# OMIM ID
# OMIM Term
# Synonyms (|-delimited)
# Marker Symbol
# MGI Marker Accession ID
# Human Marker Symbol
# "Mouse only" or "Human only" or "Both"

205400	Tangier Disease; TGD	Analphalipoproteinemia|High Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1; HDLDT1	Abca1	MGI:99607	ABCA1	Both
242500	Ichthyosis Congenita, Harlequin Fetus Type	'Harlequin Fetus'|Harlequin Ichthyosis	Abca12	MGI:2676312	ABCA12	Both
610921	Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3	Interstitial Lung Disease Due to Abca3 Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 3	Abca3	MGI:1351617	ABCA3	Both
153800	Macular Degeneration, Age-Related, 2; ARMD2	Macular Degeneration, Senile|Maculopathy, Age-Related, 2	Abca4	MGI:109424	ABCA4	Both
248200	Stargardt Disease 1; STGD1	Macular Degeneration, Juvenile|STGD	Abca4	MGI:109424	ABCA4	Both
601718	Retinitis Pigmentosa 19; RP19		Abca4	MGI:109424	ABCA4	Both
604116	Cone-Rod Dystrophy 3; CORD3		Abca4	MGI:109424	ABCA4	Both
264800	Pseudoxanthoma Elasticum; PXE	Gronblad-Strandberg Syndrome	Abcc6	MGI:1351634	ABCC6	Both
300100	Adrenoleukodystrophy; ALD	Addison Disease and Cerebral Sclerosis|Adrenomyeloneuropathy; AMN|Bronze Schilder Disease|Melanodermic Leukodystrophy|Siemerling-Creutzfeldt Disease	Abcd1	MGI:1349215	ABCD1	Both
210250	Sitosterolemia	STSL	Abcg5	MGI:1351659	ABCG5	Both
210250	Sitosterolemia	STSL	Abcg8	MGI:1914720	ABCG8	Both
275630	Chanarin-Dorfman Syndrome; CDS	Chanarin-Dorfman Disease|Dorfman-Chanarin Syndrome; DCS|Ichthyosiform Erythroderma with Leukocyte Vacuolation|Ichthyotic Neutral Lipid Storage Disease|Neutral Lipid Storage Disease with Ichthyosis; NLSDI|Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation	Abhd5	MGI:1914719	ABHD5	Both
201475	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of; ACADVLD	Vlcad Deficiency	Acadl	MGI:87866	ACADL	Both
201450	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD	ACADM Deficiency|Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency|MCAD Deficiency|MCADH Deficiency	Acadm	MGI:87867	ACADM	Both
201470	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of; ACADSD	ACADS Deficiency|Lipid-Storage Myopathy Secondary to Short-Chain Acyl-CoA Dehydrogenase Deficiency|Scad Deficiency|Scadh Deficiency	Acads	MGI:87868	ACADS	Both
201475	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of; ACADVLD	Vlcad Deficiency	Acadvl	MGI:895149	ACADVL	Both
264470	Peroxisomal Acyl-Coa Oxidase Deficiency	Pseudoneonatal Adrenoleukodystrophy|Straight-Chain Acyl-Coa Oxidase Deficiency	Acox1	MGI:1330812	ACOX1	Both
603278	Focal Segmental Glomerulosclerosis 1; FSGS1	Glomerulosclerosis, Focal Segmental, 1	Actn4	MGI:1890773	ACTN4	Both
600376	Telangiectasia, Hereditary Hemorrhagic, Type 2; HHT2		Acvrl1	MGI:1338946	ACVRL1	Both
102700	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	ADA-SCID|SCID Due to ADA Deficiency	Ada	MGI:87916	ADA	Both
274150	Thrombotic Thrombocytopenic Purpura, Congenital; TTP	Microangiopathic Hemolytic Anemia|Microangiopathic Hemolytic Anemia, Congenital|Schulman-Upshaw Syndrome|Thrombotic Microangiopathy, Familial|Thrombotic Thrombocytopenic Purpura, Familial|Upshaw Factor, Deficiency of|Upshaw-Schulman Syndrome; USS	Adamts13	MGI:2685556	ADAMTS13	Both
225410	Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive	Dermatosparaxis|Eds VIIc|Eds7c|Ehlers-Danlos Syndrome, Dermatosparaxis Type	Adamts2	MGI:1347356	ADAMTS2	Both
601665	Obesity		Adrb2	MGI:87938	ADRB2	Both
601665	Obesity		Adrb3	MGI:87939	ADRB3	Both
208400	Aspartylglucosaminuria; AGU	AGA Deficiency|Aspartylglucosaminidase Deficiency|Aspartylglycosaminuria|Glycoasparaginase|Glycosylasparaginase Deficiency	Aga	MGI:104873	AGA	Both
608594	Lipodystrophy, Congenital Generalized, Type 1; CGL1	Berardinelli-Seip Congenital Lipodystrophy, Type 1; BSCL1|Brunzell Syndrome, Agpat2-Related|Lipodystrophy, Berardinelli-Seip Congenital, Type 1	Agpat2	MGI:1914762	AGPAT2	Both
254300	Myasthenia, Limb-Girdle, Familial	Cms IB|Congenital Myasthenic Syndrome Type IB; CMS1B|LGM|Myasthenic Myopathy, Formerly	Agrn	MGI:87961	AGRN	Both
608629	Joubert Syndrome 3; JBTS3		Ahi1	MGI:87971	AHI1	Both
604393	Leber Congenital Amaurosis 4; LCA4		Aipl1	MGI:2148800	AIPL1	Both
240300	Autoimmune Polyendocrine Syndrome, Type I; APS1	APS I|Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; APECED|Autoimmune Polyglandular Syndrome, Type I|PGA I|Polyglandular Autoimmune Syndrome, Type I	Aire	MGI:1338803	AIRE	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Akt2	MGI:104874	AKT2	Both
271980	Succinic Semialdehyde Dehydrogenase Deficiency	4-hydroxybutyric Aciduria|Gaba Metabolic Defect|Gamma-Hydroxybutyric Aciduria|Ssadh Deficiency	Aldh5a1	MGI:2441982	ALDH5A1	Both
203800	Alstrom Syndrome; ALMS	ALSS	Alms1	MGI:1934606	ALMS1	Both
242100	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1; NCIE1	CIE|Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form|IECN1|NCIE|Nonbullous Congenital Ichthyosiform Erythroderma 1	Alox12b	MGI:1274782	ALOX12B	Both
146300	Hypophosphatasia, Adult		Alpl	MGI:87983	ALPL	Both
241500	Hypophosphatasia, Infantile	HOPS	Alpl	MGI:87983	ALPL	Both
241510	Hypophosphatasia, Childhood		Alpl	MGI:87983	ALPL	Both
301200	Amelogenesis Imperfecta, Type IE; AI1E	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1|Amelogenesis Imperfecta, X-Linked 1; AIH1	Amelx	MGI:88005	AMELX	Both
123000	Craniometaphyseal Dysplasia, Autosomal Dominant; CMDD	CMD|Craniometaphyseal Dysplasia, Jackson Type; CMDJ	Ank	MGI:3045421	ANKH	Both
182900	Spherocytosis, Type 1; SPH1	Sph; HS|Spherocytosis, Hereditary, 1; HS1	Ank1	MGI:88024	ANK1	Both
608233	Hermansky-Pudlak Syndrome 2; HPS2		Ap3b1	MGI:1333879	AP3B1	Both
114500	Colorectal Cancer; CRC	Colon Cancer	Apc	MGI:88039	APC	Both
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Apc	MGI:88039	APC	Both
175100	Familial Adenomatous Polyposis 1; FAP1	Adenomatous Polyposis of the Colon; APC|Familial Polyposis of the Colon; FPC	Apc	MGI:88039	APC	Both
107730	Apolipoprotein B; APOB		Apob	MGI:88052	APOB	Both
107741	Apolipoprotein E; APOE		Apoe	MGI:88057	APOE	Both
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Apoe	MGI:88057	APOE	Both
104300	Alzheimer Disease; AD		App	MGI:88059	APP	Both
102600	Adenine Phosphoribosyltransferase; APRT		Aprt	MGI:88061	APRT	Both
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Aqp2	MGI:1096865	AQP2	Both
176807	Prostate Cancer		Ar	MGI:88064	AR	Both
300068	Androgen Insensitivity Syndrome; AIS	Androgen Receptor Deficiency|AR Deficiency|DHTR Deficiency|Dihydrotestosterone Receptor Deficiency|Testicular Feminization Syndrome; TFM	Ar	MGI:88064	AR	Both
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Ar	MGI:88064	AR	Both
207800	Argininemia	ARG1 Deficiency|Arginase Deficiency|Hyperargininemia	Arg1	MGI:88070	ARG1	Both
250100	Metachromatic Leukodystrophy	ARSA Deficiency|Arylsulfatase A Deficiency|Cerebral Sclerosis, Diffuse, Metachromatic Form|Metachromatic Leukoencephalopathy|MLD|Sulfatide Lipidosis	Arsa	MGI:88077	ARSA	Both
253200	Mucopolysaccharidosis Type VI	Arsb Deficiency|Arylsulfatase B Deficiency|Maroteaux-Lamy Syndrome|MPS VI; MPS6|N-Acetylgalactosamine-4-Sulfatase Deficiency	Arsb	MGI:88075	ARSB	Both
300215	Lissencephaly, X-Linked, 2; LISX2	Lissencephaly, X-Linked, with Ambiguous Genitalia; XLAG	Arx	MGI:1097716	ARX	Both
308350	Epileptic Encephalopathy, Early Infantile, 1; EIEE1	Infantile Epileptic-Dyskinetic Encephalopathy|Infantile Spasm Syndrome, X-Linked 1; ISSX1|Ohtahara Syndrome, X-Linked|West Syndrome, X-Linked|Xmesid	Arx	MGI:1097716	ARX	Both
228000	Farber Lipogranulomatosis	AC Deficiency|Acid Ceramidase Deficiency|Ceramidase Deficiency|Farber Disease|N-Laurylsphingosine Deacylase Deficiency	Asah1	MGI:1277124	ASAH1	Both
207900	Argininosuccinic Aciduria	Argininosuccinase Deficiency|Argininosuccinate Lyase Deficiency|Argininosuccinic Acid Lyase Deficiency|ASL Deficiency	Asl	MGI:88084	ASL	Both
271900	Canavan Disease	ACY2 Deficiency|Aminoacylase 2 Deficiency|ASP Deficiency|ASPA Deficiency|Aspartoacylase Deficiency|Canavan-Van Bogaert-Bertrand Disease|Spongy Degeneration of Central Nervous System	Aspa	MGI:87914	ASPA	Both
608716	Microcephaly 5, Primary, Autosomal Recessive; MCPH5		Aspm	MGI:1334448	ASPM	Both
215700	Citrullinemia, Classic	Argininosuccinate Synthetase Deficiency|ASS Deficiency|Citrullinemia, Type I; CTLN1|Citrullinuria	Ass1	MGI:88090	ASS1	Both
611081	Inflammatory Bowel Disease 10; IBD10		Atg16l1	MGI:1924290	ATG16L1	Both
208900	Ataxia-Telangiectasia; AT	AT1	Atm	MGI:107202	ATM	Both
124200	Darier-White Disease; DAR	Keratosis Follicularis	Atp2a2	MGI:88110	ATP2A2	Both
309400	Menkes Disease	Copper Transport Disease|Kinky Hair Disease|Menkes Syndrome|Mk; MNK|Steely Hair Disease	Atp7a	MGI:99400	ATP7A	Both
277900	Wilson Disease	Hepatolenticular Degeneration|Wnd; WD	Atp7b	MGI:103297	ATP7B	Both
210600	Seckel Syndrome 1; SCKL1	Bird-Headed Dwarfism|Microcephalic Primordial Dwarfism I|Nanocephalic Dwarfism|SCKL|Seckel-Type Dwarfism	Atr	MGI:108028	ATR	Both
301040	Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX	Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type|ATR, Nondeletion Type|ATR-X Syndrome	Atrx	MGI:103067	ATRX	Both
164400	Spinocerebellar Ataxia 1; SCA1	Cerebelloparenchymal Disorder I; CPD1|Menzel Type OPCA|Olivopontocerebellar Atrophy I; OPCA I; OPCA1|Olivopontocerebellar Atrophy IV; OPCA IV; OPCA4|Schut-Haymaker Type Opca|Spinocerebellar Atrophy I	Atxn1	MGI:104783	ATXN1	Both
164500	Spinocerebellar Ataxia 7; SCA7	ADCA, Type II|Autosomal Dominant Cerebellar Ataxia, Type II|Olivopontocerebellar Atrophy III; OPCA3|OPCA III|OPCA with Macular Degeneration and External Ophthalmoplegia|OPCA with Retinal Degeneration	Atxn7	MGI:2179277	ATXN7	Both
125700	Diabetes Insipidus, Neurohypophyseal	Diabetes Insipidus, Cranial Type|Diabetes Insipidus, Primary Central	Avp	MGI:88121	AVP	Both
304800	Diabetes Insipidus, Nephrogenic, X-Linked	Diabetes Insipidus, Nephrogenic, Type I|Ndi	Avpr2	MGI:88123	AVPR2	Both
114480	Breast Cancer		Bard1	MGI:1328361	BARD1	Both
209900	Bardet-Biedl Syndrome; BBS		Bbs1	MGI:1277215	BBS1	Both
209900	Bardet-Biedl Syndrome; BBS		Bbs2	MGI:2135267	BBS2	Both
209900	Bardet-Biedl Syndrome; BBS		Bbs4	MGI:2143311	BBS4	Both
177400	Butyrylcholinesterase; BCHE	Pseudocholinesterase E1; CHE1	Bche	MGI:894278	BCHE	Both
153700	Macular Dystrophy, Vitelliform; VMD	Best Macular Dystrophy; BMD|Vitelliform Macular Dystrophy, Early-Onset|Vitelliform Macular Dystrophy, Juvenile-Onset	Best1	MGI:1346332	BEST1	Both
611809	Bestrophinopathy, Autosomal Recessive; ARB		Best1	MGI:1346332	BEST1	Both
210900	Bloom Syndrome; BLM	BS; BLS	Blm	MGI:1328362	BLM	Both
115150	Cardiofaciocutaneous Syndrome	CFC Syndrome|Cfcs	Braf	MGI:88190	BRAF	Both
114480	Breast Cancer		Brca1	MGI:104537	BRCA1	Both
114480	Breast Cancer		Brca2	MGI:109337	BRCA2	Both
155255	Medulloblastoma; MDB		Brca2	MGI:109337	BRCA2	Both
176807	Prostate Cancer		Brca2	MGI:109337	BRCA2	Both
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Brca2	MGI:109337	BRCA2	Both
605724	Fanconi Anemia, Complementation Group D1; FANCD1	FAD1	Brca2	MGI:109337	BRCA2	Both
269700	Lipodystrophy, Congenital Generalized, Type 2; CGL2	Berardinelli Syndrome|Berardinelli-Seip Congenital Lipodystrophy, Type 2|Brunzell Syndrome, Bscl2-Related|Lipoatrophic Diabetes, Congenital|Lipodystrophy, Berardinelli-Seip Congenital, Type 2|Lipodystrophy, Total, and Acromegaloid Gigantism|Seip Syndrome	Bscl2	MGI:1298392	BSCL2	Both
602522	Bartter Syndrome, Type 4a		Bsnd	MGI:2153465	BSND	Both
253260	Biotinidase Deficiency	BTD Deficiency|Multiple Carboxylase Deficiency, Juvenile-Onset|Multiple Carboxylase Deficiency, Late-Onset	Btd	MGI:1347001	BTD	Both
300755	Agammaglobulinemia, X-Linked; XLA	Agammaglobulinemia, X-Linked, Type 1; AGMX1|Bruton-Type Agammaglobulinemia	Btk	MGI:88216	BTK	Both
605670	Late-Onset Retinal Degeneration; LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant	C1qtnf5	MGI:2385958	C1QTNF5	Both
141500	Migraine, Familial Hemiplegic, 1; FHM1	FHM	Cacna1a	MGI:109482	CACNA1A	Both
601005	Timothy Syndrome; TS	Long Qt Syndrome 8; LQT8|Long Qt Syndrome with Syndactyly	Cacna1c	MGI:103013	CACNA1C	Both
300071	Night Blindness, Congenital Stationary, Type 2A; CSNB2A	Csnb, Incomplete, X-Linked|Night Blindness, Congenital Stationary, Type 2; CSNB2	Cacna1f	MGI:1859639	CACNA1F	Both
253600	Muscular Dystrophy, Limb-Girdle, Type 2A; LGMD2A	Leyden-Moebius Muscular Dystrophy|Muscular Dystrophy, Limb-Girdle, Type 2; LGMD2|Muscular Dystrophy, Pelvofemoral	Capn3	MGI:107437	CAPN3	Both
259730	Osteopetrosis, Autosomal Recessive 3; OPTB3	Carbonic Anhydrase II Deficiency|Guibaud-Vainsel Syndrome|Marble Brain Disease|Osteopetrosis with Renal Tubular Acidosis	Car2	MGI:88269	CA2	Both
607271	CASPase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome, Type IIB; ALPS2B	Casp8	MGI:1261423	CASP8	Both
611938	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2; CPVT2	Ventricular Tachycardia, Stress-Induced Polymorphic; VTSIP	Casq2	MGI:1309469	CASQ2	Both
145980	Hypocalciuric Hypercalcemia, Familial, Type I; HHC1	Familial Benign Hypercalcemia 1; FBH1|FHH1	Casr	MGI:1351351	CASR	Both
239200	Hyperparathyroidism, Neonatal Severe Primary; NSHPT	NHPT|NSPH	Casr	MGI:1351351	CASR	Both
607801	Muscular Dystrophy, Limb-Girdle, Type 1C; LGMD1C		Cav3	MGI:107570	CAV3	Both
236200	Homocystinuria Due to Cystathionine Beta-Synthase Deficiency	Cystathionine Beta-Synthase Deficiency|Homocystinuria with or without Response to Pyridoxine	Cbs	MGI:88285	CBS	Both
603284	Cerebral Cavernous Malformations 2; CCM2		Ccm2	MGI:2384924	CCM2	Both
609057	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness		Cd151	MGI:1096360	CD151	Both
607832	Focal Segmental Glomerulosclerosis 3, Susceptibility To; FSGS3	Glomerulosclerosis, Focal Segmental, 3, Susceptibility to	Cd2ap	MGI:1330281	CD2AP	Both
608404	Platelet Glycoprotein IV Deficiency	Bleeding Disorder, Platelet-Type, 10; BDPLT10|CD36 Deficiency	Cd36	MGI:107899	CD36	Both
601067	Usher Syndrome, Type ID; USH1D		Cdh23	MGI:1890219	CDH23	Both
601386	Deafness, Autosomal Recessive 12; DFNB12		Cdh23	MGI:1890219	CDH23	Both
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	Cdkn1c	MGI:104564	CDKN1C	Both
601626	Leukemia, Acute Myeloid; AML		Cebpa	MGI:99480	CEBPA	Both
610188	Joubert Syndrome 5; JBTS5		Cep290	MGI:2384917	CEP290	Both
217095	Conotruncal Heart Malformations; CTHM		Cfc1	MGI:109448	CFC1	Both
219700	Cystic Fibrosis; CF	Mucoviscidosis	Cftr	MGI:88388	CFTR	Both
214800	CHARGE Syndrome	Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies|Hall-Hittner Syndrome; HHS	Chd7	MGI:2444748	CHD7	Both
303100	Choroideremia; CHM		Chm	MGI:892979	CHM	Both
608931	Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Type ID; CMS1D	Chrne	MGI:87894	CHRNE	Both
209920	Bare Lymphocyte Syndrome, Type II	Bare Lymphocyte Syndrome; BLS|BLS, Type II|Severe Combined Immunodeficiency, Hla Class Ii-Negative	Ciita	MGI:108445	CIITA	Both
604928	Wolfram Syndrome 2; WFS2		Cisd2	MGI:1914256	CISD2	Both
300009	Dent Disease 1	Nephrolithiasis 2; NPHL2|Nephrolithiasis, Hypercalciuric, X-Linked|Urolithiasis, Hypercalciuric, X-Linked	Clcn5	MGI:99486	CLCN5	Both
611490	Osteopetrosis, Autosomal Recessive 4; OPTB4	Osteopetrosis, Infantile Malignant 2	Clcn7	MGI:1347048	CLCN7	Both
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Cln3	MGI:107537	CLN3	Both
256731	Ceroid Lipofuscinosis, Neuronal, 5; CLN5		Cln5	MGI:2442253	CLN5	Both
601780	Ceroid Lipofuscinosis, Neuronal, 6; CLN6		Cln6	MGI:2159324	CLN6	Both
600143	Ceroid Lipofuscinosis, Neuronal, 8; CLN8		Cln8	MGI:1349447	CLN8	Both
276902	Usher Syndrome, Type III; USH3		Clrn1	MGI:2388124	CLRN1	Both
268000	Retinitis Pigmentosa; RP		Cngb1	MGI:2664102	CNGB1	Both
610042	Cortical Dysplasia-Focal Epilepsy Syndrome		Cntnap2	MGI:1914047	CNTNAP2	Both
601369	Deafness, Autosomal Dominant 9; DFNA9		Coch	MGI:1278313	COCH	Both
154780	Marshall Syndrome		Col11a1	MGI:88446	COL11A1	Both
604841	Stickler Syndrome, Type II; STL2	Stickler Syndrome, Beaded Vitreous Type|Stickler Syndrome, Vitreous Type 2	Col11a1	MGI:88446	COL11A1	Both
184840	Stickler Syndrome, Type III; STL3	Stickler Syndrome, Nonocular Type	Col11a2	MGI:88447	COL11A2	Both
215150	Otospondylomegaepiphyseal Dysplasia; OSMED	Chondrodystrophy with Sensorineural Deafness|Nance-Insley Syndrome|Nance-Sweeney Chondrodysplasia	Col11a2	MGI:88447	COL11A2	Both
601868	Deafness, Autosomal Dominant 13; DFNA13		Col11a2	MGI:88447	COL11A2	Both
226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal	Col17a1	MGI:88450	COL17A1	Both
267750	Knobloch Syndrome 1; KNO1	Retinal Detachment and Occipital Encephalocele	Col18a1	MGI:88451	COL18A1	Both
166200	Osteogenesis Imperfecta, Type I	OI, Type I|Oi1|Osteogenesis Imperfecta Tarda	Col1a1	MGI:88467	COL1A1	Both
166210	Osteogenesis Imperfecta, Type II	Oi, Type II; OI2|Osteogenesis Imperfecta Congenita, Perinatal Lethal Form|Osteogenesis Imperfecta Congenita; OIC|Vrolik Type of Osteogenesis Imperfecta	Col1a1	MGI:88467	COL1A1	Both
259420	Osteogenesis Imperfecta, Type III	OI, Type III|Oi3|Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae	Col1a2	MGI:88468	COL1A2	Both
151210	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; PLSDT	Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type	Col2a1	MGI:88452	COL2A1	Both
183900	Spondyloepiphyseal Dysplasia Congenita; SEDC	SED Congenita|Spondyloepiphyseal Dysplasia, Congenital Type	Col2a1	MGI:88452	COL2A1	Both
200610	Achondrogenesis, Type II; ACG2	Achondrogenesis, Langer-Saldino Type|Chondrogenesis Imperfecta	Col2a1	MGI:88452	COL2A1	Both
609508	Stickler Syndrome, Type I, Nonsyndromic Ocular	Stickler Syndrome, Type I, Predominantly Ocular	Col2a1	MGI:88452	COL2A1	Both
130050	Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant	Eds IV; EDS4|Ehlers-Danlos Syndrome, Arterial Type|Ehlers-Danlos Syndrome, Ecchymotic Type|Ehlers-Danlos Syndrome, Sack-Barabas Type|Ehlers-Danlos Syndrome, Vascular Type	Col3a1	MGI:88453	COL3A1	Both
175780	Porencephaly, Familial	Hemiplegia, Infantile, with Porencephaly|Porencephaly, Type 1, Autosomal Dominant; ADT1P|Porencephaly, Type 1; T1P	Col4a1	MGI:88454	COL4A1	Both
203780	Alport Syndrome, Autosomal Recessive		Col4a3	MGI:104688	COL4A3	Both
203780	Alport Syndrome, Autosomal Recessive		Col4a4	MGI:104687	COL4A4	Both
301050	Alport Syndrome, X-Linked; ATS	Nephropathy and Deafness, X-Linked	Col4a5	MGI:88456	COL4A5	Both
130000	Ehlers-Danlos Syndrome, Type I	Eds I; EDS1|Ehlers-Danlos Syndrome, Gravis Type|Ehlers-Danlos Syndrome, Severe Classic Type	Col5a1	MGI:88457	COL5A1	Both
130010	Ehlers-Danlos Syndrome, Type II	EDS II|Eds2|Ehlers Danlos Syndrome, Mild Classic Type|Ehlers Danlos Syndrome, Mitis Type	Col5a1	MGI:88457	COL5A1	Both
158810	Bethlem Myopathy	Muscular Dystrophy, Benign Congenital|Myopathy, Benign Congenital, with Contractures	Col6a1	MGI:88459	COL6A1	Both
226600	Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB	Dystrophic Epidermolysis Bullosa, Autosomal Recessive	Col7a1	MGI:88462	COL7A1	Both
132400	Epiphyseal Dysplasia, Multiple, 1; EDM1		Comp	MGI:88469	COMP	Both
177170	Pseudoachondroplasia; PSACH	Pseudoachondroplastic Dysplasia|Spondyloepiphyseal Dysplasia, Pseudoachondroplastic	Comp	MGI:88469	COMP	Both
604290	Aceruloplasminemia		Cp	MGI:88476	CP	Both
237300	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to	Carbamoyl Phosphate Synthetase I Deficiency|CPS I Deficiency	Cps1	MGI:891996	CPS1	Both
255120	Carnitine Palmitoyltransferase I Deficiency	Carnitine Palmitoyltransferase IA Deficiency|CPT Deficiency, Hepatic, Type I|CPT I Deficiency	Cpt1a	MGI:1098296	CPT1A	Both
600105	Retinitis Pigmentosa 12; RP12	Retinitis Pigmentosa with or without Paraarteriolar Preservation of Retinal Pigment Epithelium|Rp with or without Pprpe|Rp with or without Preserved Paraarteriole Retinal Pigment Epithelium	Crb1	MGI:2136343	CRB1	Both
180849	Rubinstein-Taybi Syndrome 1; RSTS1	Broad Thumb-Hallux Syndrome|Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation|Rubinstein Syndrome	Crebbp	MGI:1098280	CREBBP	Both
610682	Osteogenesis Imperfecta, Type VII	Oi, Type VII|Oi7|Osteogenesis Imperfecta, Type Iib, Formerly; OI2B, FORMERLY	Crtap	MGI:1891221	CRTAP	Both
123580	Crystallin, Alpha-A; CRYAA		Cryaa	MGI:88515	CRYAA	Both
608810	Myopathy, Myofibrillar, 2, Mfm2	Alpha-B Crystallinopathy|Myopathy, Desmin-Related, Associated with Mutation in the CRYAB Gene|Myopathy, Myofibrillar, Alpha-B Crystallin-Related	Cryab	MGI:88516	CRYAB	Both
600881	Cataract, Congenital Zonular, with Sutural Opacities; CCZS		Cryba1	MGI:88518	CRYBA1	Both
601547	Cataract, Congenital, Cerulean Type, 2; CCA2	Cataract, Congenital, 'Blue Dot' Type, 2	Crybb2	MGI:88519	CRYBB2	Both
604307	Cataract, Coppock-Like; CCL	Cataract, Embryonic Nuclear	Crygc	MGI:88523	CRYGC	Both
115700	Cataract, Crystalline Aculeiform	CACA|Cataract, Aculeiform	Crygd	MGI:88524	CRYGD	Both
265120	Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1	Interstitial Lung Disease Due to Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1	Csf2rb	MGI:1339759	CSF2RB	Both
162830	Neutrophilia, Hereditary		Csf3r	MGI:1339755	CSF3R	Both
607482	Cardiomyopathy, Dilated, 1M; CMD1M		Csrp3	MGI:1330824	CSRP3	Both
612124	Cardiomyopathy, Familial Hypertrophic, 12; CMH12		Csrp3	MGI:1330824	CSRP3	Both
254800	Myoclonic Epilepsy of Unverricht and Lundborg	Baltic Myoclonic Epilepsy|Epilepsy, Progressive Myoclonic 1; EPM1|Epilepsy, Progressive Myoclonic 1A; EPM1A|Progressive Myoclonic Epilepsy; PME|ULD	Cstb	MGI:109514	CSTB	Both
219500	Cystathioninuria	Cystathionase Deficiency	Cth	MGI:1339968	CTH	Both
219800	Cystinosis, Nephropathic; CTNS	Lysosomal Cystine Transport Protein, Defect of	Ctns	MGI:1932872	CTNS	Both
256540	Galactosialidosis; GSL	Cathepsin A Deficiency|Goldberg Syndrome|Lysosomal Protective Protein Deficiency|Neuraminidase Deficiency with Beta-Galactosidase Deficiency|Neuraminidase/Beta-Galactosidase Expression; NGBE|Ppca Deficiency|Protective Protein/Cathepsin A Deficiency	Ctsa	MGI:97748	CTSA	Both
610127	Ceroid Lipofuscinosis, Neuronal, 10; CLN10	Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient	Ctsd	MGI:88562	CTSD	Both
265800	Pycnodysostosis	PYCD|Pyknodysostosis; PKND	Ctsk	MGI:107823	CTSK	Both
306400	Granulomatous Disease, Chronic, X-Linked; CGD	Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cybb	MGI:88574	CYBB	Both
231300	Glaucoma 3, Primary Congenital, A; GLC3A	Glaucoma, Congenital; GLC3	Cyp1b1	MGI:88590	CYP1B1	Both
264700	Vitamin D Hydroxylation-Deficient Rickets, Type 1A; VDDR1A	1-alpha, 25-Hydroxyvitamin D3 Deficiency, Selective|1-alpha-Hydroxylase Deficiency|25-hydroxycholecalciferol-1-Hydroxylase Deficiency|Pddr IA|Pseudovitamin D-Deficiency Rickets, Type IA; PDDR1A|Vitamin D Dependency, Type 1; VDD1|Vitamin D-Dependent Rickets, Type 1a	Cyp27b1	MGI:1098274	CYP27B1	Both
223360	Dopamine Beta-Hydroxylase Deficiency, Congenital	Noradrenaline Deficiency|Norepinephrine Deficiency	Dbh	MGI:94864	DBH	Both
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Dbt	MGI:105386	DBT	Both
602450	Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation	RS-SCID	Dclre1c	MGI:2441769	DCLRE1C	Both
278740	Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum V; XP5|XP, Group E|XPE	Ddb2	MGI:1355314	DDB2	Both
601419	Myopathy, Myofibrillar, 1; MFM1	Desmin-Related Myopathy; DRM|Desminopathy, Primary|Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; IBM1, FORMERLY|Myopathy, Myofibrillar, Desmin-Related	Des	MGI:94885	DES	Both
604765	Cardiomyopathy, Dilated, 1I; CMD1I		Des	MGI:94885	DES	Both
610220	Deafness, Autosomal Recessive 59; DFNB59		Dfnb59	MGI:2685847	DFNB59	Both
270400	Smith-Lemli-Opitz Syndrome; SLOS	Lethal Acrodysgenital Syndrome|Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung|RSH Syndrome|Rutledge Lethal Multiple Congenital Anomaly Syndrome|SLO Syndrome	Dhcr7	MGI:1298378	DHCR7	Both
607080	46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy		Dhh	MGI:94891	DHH	Both
181500	Schizophrenia; SCZD		Disc1	MGI:2447658	DISC1	Both
305000	Dyskeratosis Congenita, X-Linked; DKCX	Zinsser-Cole-Engman Syndrome	Dkc1	MGI:1861727	DKC1	Both
277300	Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1	Costovertebral Dysplasia|Jarcho-Levin Syndrome|Spondylothoracic Dysostosis|Spondylothoracic Dysplasia|Vertebral Anomalies	Dll3	MGI:1096877	DLL3	Both
300376	Muscular Dystrophy, Becker Type; BMD	Becker Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Dmd	MGI:94909	DMD	Both
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Dmd	MGI:94909	DMD	Both
160900	Myotonic Dystrophy 1; DM1	Dystrophia Myotonica 1|Dystrophia Myotonica; DM|Steinert Disease	Dmpk	MGI:94906	DMPK	Both
608644	Ciliary Dyskinesia, Primary, 3; CILD3	Ciliary Dyskinesia, Primary, 3, with or without Situs Inversus	Dnahc5	MGI:107718	DNAH5	Both
244400	Ciliary Dyskinesia, Primary, 1; CILD1	Ciliary Dyskinesia, Primary, 1, with or without Situs Inversus|Immotile Cilia Syndrome; ICS|Pcd	Dnaic1	MGI:1916172	DNAI1	Both
152700	Systemic Lupus Erythematosus; SLE		Dnase1	MGI:103157	DNASE1	Both
242860	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1; ICF1	Centromeric Instability, Immunodeficiency Syndrome; CIID|Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16|Immunodeficiency Syndrome, Variable	Dnmt3b	MGI:1261819	DNMT3B	Both
607903	Hypotrichosis 6; HYPT6	HTL|Hypotrichosis, Localized, Autosomal Recessive 1; LAH1|Hypotrichosis, Localized, Autosomal Recessive; LAH	Dsg4	MGI:2661061	DSG4	Both
125500	Dentinogenesis Imperfecta, Shields Type III	Brandywine Type Dentinogenesis Imperfecta|DGI-III	Dspp	MGI:109172	DSPP	Both
607200	Thyroid Dyshormonogenesis 6; TDH6	Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6|Thyroid Hormonogenesis, Genetic Defect In, 6	Duox2	MGI:3036280	DUOX2	Both
223800	Dyggve-Melchior-Clausen Disease; DMC		Dym	MGI:1918480	DYM	Both
607326	Smith-Mccort Dysplasia; SMC		Dym	MGI:1918480	DYM	Both
253601	Muscular Dystrophy, Limb-Girdle, Type 2B; LGMD2B	Muscular Dystrophy, Limb-Girdle, Type 3; LGMD3	Dysf	MGI:1349385	DYSF	Both
254130	Miyoshi Muscular Dystrophy 1; MMD1	Miyoshi Myopathy|Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive	Dysf	MGI:1349385	DYSF	Both
606768	Myopathy, Distal, with Anterior Tibial Onset; DMAT		Dysf	MGI:1349385	DYSF	Both
302960	Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2	CDPXD; CPXD|Conradi-Hunermann Syndrome|Conradi-Hunermann-Happle Syndrome|Happle Syndrome	Ebp	MGI:107822	EBP	Both
305100	Ectodermal Dysplasia, Hypohidrotic, X-Linked; XHED	Christ-Siemens-Touraine Syndrome|CST Syndrome|Ectodermal Dysplasia 1; ED1|Ectodermal Dysplasia, Anhidrotic, X-Linked; EDA|Ectodermal Dysplasia, Hypohidrotic, 1; HED1|EDA1|Xlhed	Eda	MGI:1195272	EDA	Both
224900	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal Dysplasia, Anhidrotic	Edar	MGI:1343498	EDAR	Both
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Edn3	MGI:95285	EDN3	Both
613265	Waardenburg Syndrome, Type 4b; WS4B	Waardenburg Syndrome, Type 4b, with Hirschsprung Disease|Waardenburg Syndrome, Type IVB	Edn3	MGI:95285	EDN3	Both
277580	Waardenburg Syndrome, Type 4A; WS4A	Shah-Waardenburg Syndrome|Waardenburg Syndrome with Hirschsprung Disease, Type 4a|Waardenburg Syndrome, Type IVA|Waardenburg-Shah Syndrome|Ws4	Ednrb	MGI:102720	EDNRB	Both
600155	Hirschsprung Disease, Susceptibility to, 2; HSCR2		Ednrb	MGI:102720	EDNRB	Both
126600	Doyne Honeycomb Retinal Dystrophy; DHRD		Efemp1	MGI:1339998	EFEMP1	Both
254770	Epilepsy, Myoclonic Juvenile; EJM	Myoclonic Epilepsy, Juvenile; JME|Petit Mal, Impulsive	Efhc1	MGI:1919127	EFHC1	Both
304110	Craniofrontonasal Syndrome; CFNS	Craniofrontonasal Dysostosis|Craniofrontonasal Dysplasia; CFND	Efnb1	MGI:102708	EFNB1	Both
605253	Neuropathy, Congenital Hypomyelinating	Charcot-Marie-Tooth Disease, Type 4E; CMT4E|Charcot-Marie-Tooth Neuropathy, Type 4E|Congenital Hypomyelinating Neuropathy; CHN|Hypomyelination, Severe Congenital	Egr2	MGI:95296	EGR2	Both
610253	Kleefstra Syndrome	9q Subtelomeric Deletion Syndrome|9q- Syndrome|Chromosome 9q34.3 Deletion Syndrome	Ehmt1	MGI:1924933	EHMT1	Both
226980	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	IDDM-MED Syndrome|MED-IDDM Syndrome|Wolcott-Rallison Syndrome	Eif2ak3	MGI:1341830	EIF2AK3	Both
185500	Supravalvular Aortic Stenosis; SVAS	Supravalvar Aortic Stenosis, Eisenberg Type	Eln	MGI:95317	ELN	Both
600110	Stargardt Disease 3; STGD3	Macular Dystrophy with Flecks, Type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant	Elovl4	MGI:1933331	ELOVL4	Both
104500	Amelogenesis Imperfecta, Type IB; AI1B	AIH2|Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant|Enamel Hypoplasia, Hereditary Localized	Enam	MGI:1333772	ENAM	Both
187300	Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber;	HHT|Osler-Rendu-Weber Disease	Eng	MGI:95392	ENG	Both
602475	Ossification of the Posterior Longitudinal Ligament of Spine; OPLL		Enpp1	MGI:97370	ENPP1	Both
611804	Elliptocytosis 1; EL1	4.1- Trait|4.1-Minus Trait|Elliptocytosis, Rhesus-Linked Type|Protein 4.1 of Erythrocyte Membrane, Defect of	Epb4.1	MGI:95401	EPB41	Both
613020	Cataract, Age-Related Cortical, 2; ARCC2		Epha2	MGI:95278	EPHA2	Both
254780	Myoclonic Epilepsy of Lafora	Epilepsy, Progressive Myoclonic 2A; EPM2A|Lafora Body Disease; LBD|Lafora Disease|MELF	Epm2a	MGI:1341085	EPM2A	Both
133100	Erythrocytosis, Familial, 1; ECYT1	Erythrocytosis, Autosomal Dominant Benign|Polycythemia, Primary Familial and Congenital; PFCP	Epor	MGI:95408	EPOR	Both
278730	Xeroderma Pigmentosum, Complementation Group D; XPD	Xeroderma Pigmentosum VIII, Formerly; XP8, FORMERLY|XP, Group D; XPDC|XP, Group H, Formerly; XPH, FORMERLY	Ercc2	MGI:95413	ERCC2	Both
601675	Trichothiodystrophy, Photosensitive; TTDP		Ercc2	MGI:95413	ERCC2	Both
610651	Xeroderma Pigmentosum, Complementation Group B; XPB		Ercc3	MGI:95414	ERCC3	Both
278760	Xeroderma Pigmentosum, Complementation Group F; XPF	Xeroderma Pigmentosum VI; XP6|XP, Group F	Ercc4	MGI:1354163	ERCC4	Both
278780	Xeroderma Pigmentosum, Complementation Group G; XPG	Xp, Group G; XPGC	Ercc5	MGI:103582	ERCC5	Both
133540	Cockayne Syndrome, Type B; CSB	Ckn2	Ercc6	MGI:1100494	ERCC6	Both
602473	Encephalopathy, Ethylmalonic; EE		Ethe1	MGI:1913321	ETHE1	Both
225500	Ellis-Van Creveld Syndrome; EVC	Chondroectodermal Dysplasia|Mesoectodermal Dysplasia	Evc	MGI:1890596	EVC	Both
133700	Exostoses, Multiple, Type I	Diaphyseal Aclasis|EXT; EXT1|Multiple Cartilaginous Exostoses|Multiple Osteochondromas|Osteochondromatosis	Ext1	MGI:894663	EXT1	Both
133701	Exostoses, Multiple, Type II	EXT2	Ext2	MGI:108050	EXT2	Both
113650	Branchiootorenal Syndrome 1; BOR1	Branchiootorenal Dysplasia|Melnick-Fraser Syndrome	Eya1	MGI:109344	EYA1	Both
227600	Factor X Deficiency	F10 Deficiency|Stuart-Prower Factor Deficiency	F10	MGI:103107	F10	Both
613225	Factor XIII, A Subunit, Deficiency of		F13a1	MGI:1921395	F13A1	Both
306700	Hemophilia A; HEMA	Hemophilia, Classic	F8	MGI:88383	F8	Both
306900	Hemophilia B; HEMB	Christmas Disease|F9 Deficiency|Factor IX Deficiency	F9	MGI:88384	F9	Both
612319	Spastic Paraplegia 35, Autosomal Recessive; SPG35	Fatty Acid Hydroxylase-Associated Neurodegeneration; FAHN|Leukodystrophy, Dysmyelinating, and Spastic Paraparesis with or without Dystonia	Fa2h	MGI:2443327	FA2H	Both
276700	Tyrosinemia, Type I	Fah Deficiency|Fumarylacetoacetase Deficiency|Hepatorenal Tyrosinemia	Fah	MGI:95482	FAH	Both
300373	Osteopathia Striata with Cranial Sclerosis; OSCS	Hyperostosis Generalisata with Striations	Fam123b	MGI:1919595	FAM123B	Both
227650	Fanconi Anemia, Complementation Group A; FANCA		Fanca	MGI:1341823	FANCA	Both
227645	Fanconi Anemia, Complementation Group C; FANCC	FACC; FAC|Fanconi Pancytopenia, Type 3; FA3	Fancc	MGI:95480	FANCC	Both
227646	Fanconi Anemia, Complementation Group D2; FANCD2	FAD2|Fanconi Anemia, Complementation Group D; FANCD; FACD|Fanconi Pancytopenia, Type 4; FA4	Fancd2	MGI:2448480	FANCD2	Both
601859	Autoimmune Lymphoproliferative Syndrome; ALPS	Canale-Smith Syndrome	Fas	MGI:95484	FAS	Both
219100	Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A	Arcl1|Cutis Laxa, Autosomal Recessive	Fbln5	MGI:1346091	FBLN5	Both
154700	Marfan Syndrome; MFS	Marfan Syndrome, Type I; MFS1	Fbn1	MGI:95489	FBN1	Both
121050	Arthrogryposis, Distal, Type 9; DA9	Beals Syndrome|Contractural Arachnodactyly, Congenital; CCA	Fbn2	MGI:95490	FBN2	Both
246560	Split-Hand/Foot Malformation 3; SHFM3	Chromosome 10q24 Duplication Syndrome|Limb Deficiencies, Distal, with Micrognathia|Shsf3	Fbxw4	MGI:1354698	FBXW4	Both
152700	Systemic Lupus Erythematosus; SLE		Fcgr2b	MGI:95499	FCGR2B	Both
177000	Protoporphyria, Erythropoietic; EPP	Erythrohepatic Protoporphyria|Ferrochelatase Deficiency|Heme Synthetase Deficiency	Fech	MGI:95513	FECH	Both
173650	Kindler Syndrome	Bullous Acrokeratotic Poikiloderma of Kindler and Weary|Poikiloderma, Congenital, with Bullae, Weary Type|Poikiloderma, Hereditary Acrokeratotic	Fermt1	MGI:2443583	FERMT1	Both
193100	Hypophosphatemic Rickets, Autosomal Dominant; ADHR	Hypophosphatemia, Autosomal Dominant|Vitamin D-Resistant Rickets, Autosomal Dominant	Fgf23	MGI:1891427	FGF23	Both
101600	Pfeiffer Syndrome	Acrocephalosyndactyly, Type V; ACS5|Acs V	Fgfr1	MGI:95522	FGFR1	Both
101200	Apert Syndrome	Acrocephalosyndactyly, Type I; ACS1	Fgfr2	MGI:95523	FGFR2	Both
101600	Pfeiffer Syndrome	Acrocephalosyndactyly, Type V; ACS5|Acs V	Fgfr2	MGI:95523	FGFR2	Both
123500	Crouzon Syndrome	Craniofacial Dysostosis, Type I; CFD1|Crouzon Craniofacial Dysostosis	Fgfr2	MGI:95523	FGFR2	Both
100800	Achondroplasia; ACH		Fgfr3	MGI:95524	FGFR3	Both
187600	Thanatophoric Dysplasia, Type I; TD1	Platyspondylic Lethal Skeletal Dysplasia, San Diego Type|Thanatophoric Dwarfism|Thanatophoric Dysplasia; TD	Fgfr3	MGI:95524	FGFR3	Both
187601	Thanatophoric Dysplasia, Type II; TD2	Cloverleaf Skull with Thanatophoric Dwarfism|Thanatophoric Dysplasia with Kleeblattschaedel|Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull	Fgfr3	MGI:95524	FGFR3	Both
602849	Muenke Syndrome; MNKES	Muenke Nonsyndromic Coronal Craniosynostosis	Fgfr3	MGI:95524	FGFR3	Both
611228	Charcot-Marie-Tooth Disease, Type 4j; CMT4J	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Fig4	MGI:2143585	FIG4	Both
606612	Muscular Dystrophy-Dystroglycanopathy (congenital with or without Mental Retardation), Type B, 5; MDDGB5	Muscular Dystrophy, Congenital, 1C; MDC1C|Muscular Dystrophy, Congenital, Fkrp-Related	Fkrp	MGI:2447586	FKRP	Both
607155	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5; MDDGC5	Muscular Dystrophy, Limb-Girdle, Type 2I; LGMD2I|Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related	Fkrp	MGI:2447586	FKRP	Both
613153	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 5; MDDGA5	Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fkrp-Related	Fkrp	MGI:2447586	FKRP	Both
253800	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 4; MDDGA4	Fukuyama Congenital Muscular Dystrophy; FCMD|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Fktn-Related	Fktn	MGI:2179507	FKTN	Both
613152	Muscular Dystrophy-Dystroglycanopathy (congenital without Mental Retardation), Type B, 4; MDDGB4	Muscular Dystrophy, Congenital, Fktn-Related	Fktn	MGI:2179507	FKTN	Both
135150	Birt-Hogg-Dube Syndrome; BHD	Fibrofolliculomas with Trichodiscomas and Acrochordons	Flcn	MGI:2442184	FLCN	Both
300049	Heterotopia, Periventricular, X-Linked Dominant	Heterotopia, Familial Nodular|Periventricular Nodular Heterotopia 1; PVNH1	Flna	MGI:95556	FLNA	Both
304120	Otopalatodigital Syndrome, Type II; OPD2	Cranioorodigital Syndrome|Faciopalatoosseous Syndrome; FPO|OPD II Syndrome|Opd Syndrome 2	Flna	MGI:95556	FLNA	Both
309350	Melnick-Needles Syndrome; MNS	Melnick-Needles Osteodysplasty|Osteodysplasty of Melnick and Needles	Flna	MGI:95556	FLNA	Both
311300	Otopalatodigital Syndrome, Type I; OPD1	Opd I Syndrome	Flna	MGI:95556	FLNA	Both
272460	Spondylocarpotarsal Synostosis Syndrome; SCT	Scoliosis, Congenital, with Unilateral Unsegmented Bar|Spondylocarpotarsal Syndrome|Synspondylism, Congenital|Vertebral Fusion with Carpal Coalition	Flnb	MGI:2446089	FLNB	Both
153100	Lymphedema, Hereditary, IA	Lmph1a|Lymphedema, Early-Onset|Milroy Disease|Nonne-Milroy Lymphedema|Primary Congenital Lymphedema; PCL	Flt4	MGI:95561	FLT4	Both
300623	Fragile X Tremor/Ataxia Syndrome; FXTAS		Fmr1	MGI:95564	FMR1	Both
300624	Fragile X Mental Retardation Syndrome	Fragile X Syndrome|Marker X Syndrome|Mental Retardation, X-Linked, Associated with Marxq28|X-Linked Mental Retardation and Macroorchidism	Fmr1	MGI:95564	FMR1	Both
153400	Lymphedema-Distichiasis Syndrome		Foxc2	MGI:1347481	FOXC2	Both
241850	Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate		Foxe1	MGI:1353500	FOXE1	Both
107250	Anterior Segment Mesenchymal Dysgenesis; ASMD	Anterior Segment Ocular Dysgenesis; ASOD	Foxe3	MGI:1353569	FOXE3	Both
110100	Blepharophimosis, Ptosis, and Epicanthus Inversus; BPES		Foxl2	MGI:1349428	FOXL2	Both
601705	T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy		Foxn1	MGI:102949	FOXN1	Both
602081	Speech-Language Disorder 1; SPCH1	Developmental Verbal Dyspraxia; DVD|Speech and Language Disorder with Orofacial Dyspraxia	Foxp2	MGI:2148705	FOXP2	Both
304790	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked;	Autoimmunity-Immunodeficiency Syndrome, X-Linked|Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea|Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked|Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy|IDDM-Secretory Diarrhea Syndrome; DMSD|IPEX|Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked; XPID|X-Linked Autoimmunity-Allergic Dysregulation Syndrome; XLAAD	Foxp3	MGI:1891436	FOXP3	Both
219000	Fraser Syndrome		Fras1	MGI:2385368	FRAS1	Both
219000	Fraser Syndrome		Frem2	MGI:2444465	FREM2	Both
607921	Retinitis Pigmentosa 30; RP30		Fscn2	MGI:2443337	FSCN2	Both
229300	Friedreich Ataxia 1; FRDA	FRDA1	Fxn	MGI:1096879	FXN	Both
232200	Glycogen Storage Disease IA	Glucose-6-Phosphatase Deficiency|Glycogen Storage Disease I; GSD1|Gsd IA; GSD1A|Hepatorenal Form of Glycogen Storage Disease|Hepatorenal Glycogenosis|Von Gierke Disease	G6pc	MGI:95607	G6PC	Both
305900	Glucose-6-Phosphate Dehydrogenase; G6PD		G6pdx	MGI:105979	G6PD	Both
232300	Glycogen Storage Disease II	Acid Alpha-Glucosidase Deficiency|Acid Maltase Deficiency; AMD|Alpha-1,4-Glucosidase Deficiency|Cardiomegalia Glycogenica Diffusa|GAA Deficiency|Glycogenosis, Generalized, Cardiac Form|Gsd II; GSD2|Pompe Disease	Gaa	MGI:95609	GAA	Both
245200	Krabbe Disease	Galactocerebrosidase Deficiency|Galactosylceramide Beta-Galactosidase Deficiency|Galc Deficiency|Globoid Cell Leukodystrophy; GLD; GCL|Globoid Cell Leukoencephalopathy	Galc	MGI:95636	GALC	Both
253000	Mucopolysaccharidosis Type IVA	Galactosamine-6-Sulfatase Deficiency|Galns Deficiency|Morquio A Disease|Morquio Syndrome A|MPS IVA; MPS4A	Galns	MGI:1355303	GALNS	Both
211900	Tumoral Calcinosis, Hyperphosphatemic, Familial; HFTC	Calcinosis, Tumoral, with Hyperphosphatemia|Cortical Hyperostosis with Hyperphosphatemia|Hyperostosis with Hyperphosphatemia|Hyperostosis-Hyperphosphatemia Syndrome; HHS|Lipocalcinogranulomatosis|Morbus Teutschlaender|Teutschlaender Disease, Familial|Tumoral Calcinosis, Primary Hyperphosphatemic; PHPTC	Galnt3	MGI:894695	GALNT3	Both
612736	Guanidinoacetate Methyltransferase Deficiency	Creatine Deficiency Syndrome Due to Gamt Deficiency|Gamt Deficiency	Gamt	MGI:1098221	GAMT	Both
256850	Giant Axonal Neuropathy 1; GAN1	Neuropathy, Giant Axonal, Autosomal Recessive; GAN	Gan	MGI:1890619	GAN	Both
601472	Charcot-Marie-Tooth Disease, Axonal, Type 2D; CMT2D	Charcot-Marie-Tooth Disease, Neuronal, Type 2d|Charcot-Marie-Tooth Neuropathy, Type 2d	Gars	MGI:2449057	GARS	Both
146255	Hypoparathyroidism, Sensorineural Deafness, and Renal Disease; HDR	Barakat Syndrome|Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; HDRS|Nephrosis, Nerve Deafness, and Hypoparathyroidism	Gata3	MGI:95663	GATA3	Both
230800	Gaucher Disease, Type I	Acid Beta-Glucosidase Deficiency|Gaucher Disease, Noncerebral Juvenile|GBA Deficiency|GD I|Glucocerebrosidase Deficiency	Gba	MGI:95665	GBA	Both
230900	Gaucher Disease, Type II	Gaucher Disease, Acute Neuronopathic Type|GD II	Gba	MGI:95665	GBA	Both
231000	Gaucher Disease, Type III	Gaucher Disease, Chronic Neuronopathic Type|Gaucher Disease, Subacute Neuronopathic Type|GD III	Gba	MGI:95665	GBA	Both
232500	Glycogen Storage Disease IV	Amylopectinosis|Andersen Disease|Brancher Deficiency|GBE1 Deficiency|Glycogen Branching Enzyme Deficiency|Glycogenosis IV|Gsd IV; GSD4	Gbe1	MGI:1921435	GBE1	Both
125851	Maturity-Onset Diabetes of the Young, Type 2; MODY2	Mody, Type 2	Gck	MGI:1270854	GCK	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Gck	MGI:1270854	GCK	Both
309541	Mental Retardation, X-Linked 3; MRX3		Gdi1	MGI:99846	GDI1	Both
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Gdnf	MGI:107430	GDNF	Both
203450	Alexander Disease		Gfap	MGI:95697	GFAP	Both
231950	Glutathionuria	Gamma-Glutamyltransferase Deficiency|Gamma-Glutamyltranspeptidase Deficiency|GGT DEFICIENCY|GTG DEFICIENCY	Ggt1	MGI:95706	GGT1	Both
173100	Isolated Growth Hormone Deficiency, Type II; IGHD2	Growth Hormone Deficiency, Isolated, Autosomal Dominant|IGHD II|Pituitary Dwarfism Due to Isolated Growth Hormone Deficiency, Autosomal Dominant	Gh	MGI:95707	GH1	Both
262500	Laron Syndrome	Growth Hormone Insensitivity Syndrome|Growth Hormone Receptor Deficiency|Pituitary Dwarfism II	Ghr	MGI:95708	GHR	Both
164200	Oculodentodigital Dysplasia; ODDD	Oculodentoosseous Dysplasia; ODOD|ODD Syndrome	Gja1	MGI:95713	GJA1	Both
116200	Cataract, Zonular Pulverulent 1; CZP1	CAE1|Cataract, Duffy-Linked|Pulverulent Zonular Cataract	Gja8	MGI:99953	GJA8	Both
302800	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1; CMTX1	Charcot-Marie-Tooth Neuropathy, X-Linked, 1|Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked|CMT2, Formerly|CMTX|Hereditary Motor and Sensory Neuropathy, X-Linked|HMSN, X-Linked	Gjb1	MGI:95719	GJB1	Both
148210	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	KID Syndrome, Autosomal Dominant	Gjb2	MGI:95720	GJB2	Both
220290	Deafness, Autosomal Recessive 1A; DFNB1A		Gjb2	MGI:95720	GJB2	Both
133200	Erythrokeratodermia Variabilis Et Progressiva; EKVP	Erythrokeratodermia Figurata, Congenital Familial, in Plaques|Erythrokeratodermia Variabilis; EKV|Erythrokeratodermia, Progressive Symmetric; PSEK	Gjb3	MGI:95721	GJB3	Both
220290	Deafness, Autosomal Recessive 1A; DFNB1A		Gjb6	MGI:107588	GJB6	Both
608804	Leukodystrophy, Hypomyelinating, 2; HLD2	Pelizaeus-Merzbacher-Like Disease, 1; PMLD1	Gjc2	MGI:2153060	GJC2	Both
301500	Fabry Disease	Alpha-Galactosidase A Deficiency|Anderson-Fabry Disease|Angiokeratoma Corporis Diffusum|GLA Deficiency|Hereditary Dystopic Lipidosis	Gla	MGI:1347344	GLA	Both
230600	Gm1-Gangliosidosis, Type II	Gangliosidosis, Generalized Gm1, Juvenile Type|Gangliosidosis, Generalized Gm1, Type II	Glb1	MGI:88151	GLB1	Both
146510	Pallister-Hall Syndrome; PHS	Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly	Gli3	MGI:95729	GLI3	Both
175700	Greig Cephalopolysyndactyly Syndrome; GCPS	Polysyndactyly with Peculiar Skull Shape	Gli3	MGI:95729	GLI3	Both
611498	Nephronophthisis 7; NPHP7		Glis2	MGI:1932535	GLIS2	Both
610199	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	Ndh Syndrome	Glis3	MGI:2444289	GLIS3	Both
149400	Hyperekplexia, Hereditary	Exaggerated Startle Reaction|Hyperexplexia, Hereditary|Kok Disease|Startle Disease, Familial|Startle Reaction, Exaggerated|STHE|Stiff-Baby Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Person Syndrome, Congenital	Glra1	MGI:95747	GLRA1	Both
149400	Hyperekplexia, Hereditary	Exaggerated Startle Reaction|Hyperexplexia, Hereditary|Kok Disease|Startle Disease, Familial|Startle Reaction, Exaggerated|STHE|Stiff-Baby Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Person Syndrome, Congenital	Glrb	MGI:95751	GLRB	Both
272750	Gm2-Gangliosidosis, Ab Variant	Ab Variant Gm2-Gangliosidosis|Gm2 Activator Deficiency|Hexosaminidase Activator Deficiency|Tay-Sachs Disease, Ab Variant	Gm2a	MGI:95762	GM2A	Both
103580	Pseudohypoparathyroidism, Type IA; PHP1A	Albright Hereditary Osteodystrophy with Multiple Hormone Resistance|Php IA	Gnas	MGI:95777	GNAS	Both
612463	Pseudopseudohypoparathyroidism; PPHP	Albright Hereditary Osteodystrophy without Multiple Hormone Resistance	Gnas	MGI:95777	GNAS	Both
605820	Nonaka Myopathy; NM	Myopathy, Distal, with Rimmed Vacuoles; DMRV|Nonaka Distal Myopathy	Gne	MGI:1354951	GNE	Both
606664	Glycine N-Methyltransferase Deficiency	GNMT Deficiency	Gnmt	MGI:1202304	GNMT	Both
222765	Rhizomelic Chondrodysplasia Punctata, Type 2; RCDP2	Chondrodysplasia Punctata, Rhizomelic, Due to Dihydroxyacetonephosphate Acyltransferase Deficiency|DHAPAT Deficiency|Dihydroxyacetonephosphate Acyltransferase Deficiency|Glyceronephosphate O-Acyltransferase Deficiency|GNPAT Deficiency|Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency	Gnpat	MGI:1343460	GNPAT	Both
252500	Mucolipidosis II Alpha/Beta	I-Cell Disease; ICD|Ml II Alpha/Beta|Mucolipidosis II; ML II	Gnptab	MGI:3643902	GNPTAB	Both
231200	Bernard-Soulier Syndrome; BSS	Bleeding Disorder, Platelet-Type, 1; BDPLT1|Glycoprotein Ib, Platelet, Deficiency of|Platelet Glycoprotein IB Deficiency	Gp1ba	MGI:1333744	GP1BA	Both
231200	Bernard-Soulier Syndrome; BSS	Bleeding Disorder, Platelet-Type, 1; BDPLT1|Glycoprotein Ib, Platelet, Deficiency of|Platelet Glycoprotein IB Deficiency	Gp1bb	MGI:107852	GP1BB	Both
312870	Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1	Bulldog Syndrome|Dysplasia Gigantism Syndrome, X-Linked; DGSX|Golabi-Rosen Syndrome|SGBS|Simpson Dysmorphia Syndrome; SDYS	Gpc3	MGI:104903	GPC3	Both
252150	Molybdenum Cofactor Deficiency	MOCOD	Gphn	MGI:109602	GPHN	Both
613470	Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency		Gpi1	MGI:95797	GPI	Both
300500	Albinism, Ocular, Type I; OA1	Nettleship-Falls Type Ocular Albinism	Gpr143	MGI:107193	GPR143	Both
605472	Usher Syndrome, Type IIC; USH2C		Gpr98	MGI:1274784	GPR98	Both
613411	Oguchi Disease 2	Night Blindness, Congenital Stationary, Oguchi Type 2	Grk1	MGI:1345146	GRK1	Both
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Gtf2i	MGI:1202722	GTF2I	Both
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Gtf2ird1	MGI:1861942	GTF2IRD1	Both
602093	Cone Dystrophy 3; COD3		Guca1a	MGI:102770	GUCA1A	Both
204000	Leber Congenital Amaurosis 1; LCA1	Amaurosis Congenita of Leber I|LCA|Retinal Blindness, Congenital; CRB	Gucy2e	MGI:105123	GUCY2D	Both
601777	Cone-Rod Dystrophy 6; CORD6	Retinal Cone Dystrophy 2; RCD2	Gucy2e	MGI:105123	GUCY2D	Both
253220	Mucopolysaccharidosis Type VII	Beta-Glucuronidase Deficiency|Gusb Deficiency|MPS VII; MPS7|Sly Syndrome	Gusb	MGI:95872	GUSB	Both
307030	Hyperglycerolemia	GK Deficiency; GKD|GK1 Deficiency|Glycerol Kinase Deficiency	Gyk	MGI:106594	GK	Both
240600	Glycogen Storage Disease 0, Liver	Gsd 0a; GSD0A|Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver|Liver Glycogen Storage Disease 0|Liver Glycogen Synthase Deficiency	Gys2	MGI:2385254	GYS2	Both
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	H2-Ab1	MGI:103070	HLA-DQB1	Both
609015	Trifunctional Protein Deficiency		Hadhb	MGI:2136381	HADHB	Both
613313	Hemochromatosis, Type 2B; HFE2B		Hamp	MGI:1933533	HAMP	Both
141900	Hemoglobin--Beta Locus; HBB		Hbb	MGI:96020	HBB	Both
603902	Beta Thalassemia, Dominant Inclusion Body Type	Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type	Hbb	MGI:96020	HBB	Both
603903	Sickle Cell Anemia		Hbb	MGI:96020	HBB	Both
309801	Microphthalmia, Syndromic 7; MCOPS7	Microphthalmia with Linear Skin Defects; MLS|Microphthalmia, Dermal Aplasia, and Sclerocornea|Midas Syndrome	Hccs	MGI:106911	HCCS	Both
161400	Narcolepsy 1; NRCLP1		Hcrt	MGI:1202306	HCRT	Both
182230	Septooptic Dysplasia		Hesx1	MGI:96071	HESX1	Both
272800	Tay-Sachs Disease; TSD	B Variant Gm2-Gangliosidosis|GM2-Gangliosidosis, Type I|Hexosaminidase A Deficiency	Hexa	MGI:96073	HEXA	Both
268800	Sandhoff Disease	GM2-Gangliosidosis, Type II	Hexb	MGI:96074	HEXB	Both
176100	Porphyria Cutanea Tarda	PCT|PCT, 'Familial' Type|Pct, Type II|Porphyria Cutanea Tarda, Type II|Porphyria, Hepatocutaneous Type|Uroporphyrinogen Decarboxylase Deficiency	Hfe	MGI:109191	HFE	Both
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	Hfe	MGI:109191	HFE	Both
602390	Hemochromatosis, Type 2A; HFE2A		Hfe2	MGI:1916835	HFE2	Both
203500	Alkaptonuria	AKU|Homogentisic Acid Oxidase Deficiency	Hgd	MGI:96078	HGD	Both
235700	Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency		Hk1	MGI:96103	HK1	Both
176000	Porphyria, Acute Intermittent	AIP|PBGD Deficiency|Porphobilinogen Deaminase Deficiency|Porphyria, Swedish Type|Uroporphyrinogen Synthase Deficiency	Hmbs	MGI:96112	HMBS	Both
612109	Oculoauricular Syndrome	Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, and Anomalies of the External Ear	Hmx1	MGI:107178	HMX1	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Hnf1a	MGI:98504	HNF1A	Both
600496	Maturity-Onset Diabetes of the Young, Type 3; MODY3	Mody, Type 3	Hnf1a	MGI:98504	HNF1A	Both
125850	Maturity-Onset Diabetes of the Young, Type 1; MODY1	Mild Juvenile Diabetes Mellitus|Mody, Type 1	Hnf4a	MGI:109128	HNF4A	Both
605432	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		Hoxa11	MGI:96172	HOXA11	Both
140000	Hand-Foot-Uterus Syndrome	Hand-Foot-Genital Syndrome|HFG Syndrome|HFU Syndrome	Hoxa13	MGI:96173	HOXA13	Both
186000	Synpolydactyly 1; SPD1		Hoxd13	MGI:96205	HOXD13	Both
276710	Tyrosinemia, Type III	4-hydroxyphenylpyruvate Dioxygenase Deficiency|4-hydroxyphenylpyruvic Acid Oxidase Deficiency	Hpd	MGI:96213	HPD	Both
300322	Lesch-Nyhan Syndrome; LNS	HPRT Deficiency|HPRT1 Deficiency|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hprt	MGI:96217	HPRT1	Both
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Hps1	MGI:2177763	HPS1	Both
146550	Hypotrichosis 4; HYPT4	Hypotrichosis, Marie Unna Type, 1|Marie Unna Hereditary Hypotrichosis 1; MUHH1	Hr	MGI:96223	HR	Both
203655	Alopecia Universalis Congenita; ALUNC	Atrichia, Generalized	Hr	MGI:96223	HR	Both
209500	Atrichia with Papular Lesions; APL	Papular Atrichia	Hr	MGI:96223	HR	Both
218040	Costello Syndrome	Faciocutaneoskeletal Syndrome	Hras1	MGI:96224	HRAS	Both
604931	Cortisone Reductase Deficiency	11-beta-Hydroxysteroid Dehydrogenase, Type I, Deficiency of|HSD11B1 Deficiency	Hsd11b1	MGI:103562	HSD11B1	Both
218030	Apparent Mineralocorticoid Excess; AME	Ame1|Cortisol 11-Beta-Ketoreductase Deficiency	Hsd11b2	MGI:104720	HSD11B2	Both
261515	D-Bifunctional Protein Deficiency	17-beta-Hydroxysteroid Dehydrogenase IV Deficiency|DBP Deficiency|PBFE Deficiency|Peroxisomal Bifunctional Enzyme Deficiency	Hsd17b4	MGI:105089	HSD17B4	Both
224410	Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH	Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type|Dyssegmental Dwarfism, Silverman-Handmaker Type	Hspg2	MGI:96257	HSPG2	Both
255800	Schwartz-Jampel Syndrome, Type 1; SJS1	Chondrodystrophic Myotonia|Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities|Schwartz-Jampel Syndrome; SJS|Schwartz-Jampel-Aberfeld Syndrome|SJA Syndrome	Hspg2	MGI:96257	HSPG2	Both
610297	Parkinson Disease 13, Autosomal Dominant; PARK13		Htra2	MGI:1928676	HTRA2	Both
143100	Huntington Disease; HD	Huntington Chorea	Htt	MGI:96067	HTT	Both
601492	Mucopolysaccharidosis Type IX	Hyaluronidase Deficiency|MPS IX; MPS9	Hyal1	MGI:96298	HYAL1	Both
607594	Immunodeficiency, Common Variable, 1; CVID1		Icos	MGI:1858745	ICOS	Both
309900	Mucopolysaccharidosis Type II	Hunter Syndrome|IDS Deficiency|Iduronate 2-Sulfatase Deficiency|MPS II; MPS2|Sids Deficiency|Sulfoiduronate Sulfatase Deficiency	Ids	MGI:96417	IDS	Both
607014	Hurler Syndrome	Mucopolysaccharidosis Type IH; MPS1-H	Idua	MGI:96418	IDUA	Both
607015	Hurler-Scheie Syndrome	Mucopolysaccharidosis Type Ih/S; MPS1-HS	Idua	MGI:96418	IDUA	Both
607016	Scheie Syndrome	Mps V, Formerly; MPS5, FORMERLY|Mucopolysaccharidosis Type Is; MPS1-S|Mucopolysaccharidosis Type V, Formerly	Idua	MGI:96418	IDUA	Both
611263	Asphyxiating Thoracic Dystrophy 2; ATD2		Ift80	MGI:1915509	IFT80	Both
601489	Insulin-Like Growth Factor-Binding Protein, Acid-Labile Subunit; IGFALS	IGFBP, Soluble	Igfals	MGI:107973	IGFALS	Both
604320	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1; DSMA1	HMN VI|Hmn6|Neuronopathy, Distal Hereditary Motor, Type Vi; DHMN6|Neuronopathy, Severe Infantile Axonal, with Respiratory Failure|Severe Infantile Axonal Neuropathy with Respiratory Failure; SIANRF|Spinal Muscular Atrophy with Respiratory Distress 1; SMARD1|Spinal Muscular Atrophy, Diaphragmatic	Ighmbp2	MGI:99954	IGHMBP2	Both
112500	Brachydactyly, Type A1; BDA1	Farabee-Type Brachydactyly	Ihh	MGI:96533	IHH	Both
308300	Incontinentia Pigmenti; IP	Bloch-Sulzberger Syndrome|Incontinentia Pigmenti, Familial Male-Lethal Type|Incontinentia Pigmenti, Type II, Formerly; IP2, FORMERLY	Ikbkg	MGI:1338074	IKBKG	Both
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Ins2	MGI:96573	INS	Both
219050	Cryptorchidism, Unilateral or Bilateral	Cryptorchidism|Undescended Testis	Insl3	MGI:108427	INSL3	Both
119300	Van Der Woude Syndrome 1; VWS1	Cleft Lip and/or Palate with Mucous Cysts of Lower Lip|Lip-Pit Syndrome; LPS; PIT|VDWS	Irf6	MGI:1859211	IRF6	Both
119500	Popliteal Pterygium Syndrome; PPS	Cleft Lip/Palate, Paramedian Mucous Cysts of the Lower Lip, Popliteal Pterygium, Digital and Genital Anomalies|Faciogenitopopliteal Syndrome	Irf6	MGI:1859211	IRF6	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Irs1	MGI:99454	IRS1	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Irs2	MGI:109334	IRS2	Both
613204	Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency	Myopathy, Congenital, Due to Integrin Alpha-7 Deficiency	Itga7	MGI:102700	ITGA7	Both
116920	Leukocyte Adhesion Deficiency, Type I; LAD	LAD1|LFA1 Immunodeficiency|Lymphocyte Function-Associated Antigen 1 Immunodeficiency	Itgb2	MGI:96611	ITGB2	Both
226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal	Itgb4	MGI:96613	ITGB4	Both
226730	Epidermolysis Bullosa Junctionalis with Pyloric Atresia	Aplasia Cutis Congenita with Gastrointestinal Atresia|Carmi Syndrome|Eb-Pa-Acc|Epidermolysis Bullosa, Junctional, with Pyloric Atresia|Epidermylosis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita|Jeb-Pa|Junctional Epidermolysis Bullosa with Pyloric Atresia	Itgb4	MGI:96613	ITGB4	Both
117300	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis|Dementia, Familial Danish; FDD|Familial Danish Dementia|Heredopathia Ophthalmootoencephalica; HOOE	Itm2b	MGI:1309517	ITM2B	Both
176500	Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Cerebral Amyloid Angiopathy, British Type|Dementia, Familial British; FBD|Presenile Dementia with Spastic Ataxia	Itm2b	MGI:1309517	ITM2B	Both
118450	Alagille Syndrome 1; ALGS1	Alagille Syndrome; ALGS|Alagille-Watson Syndrome; AWS|Arteriohepatic Dysplasia; AHD|Cholestasis with Peripheral Pulmonary Stenosis|Hepatic Ductular Hypoplasia, Syndromatic	Jag1	MGI:1095416	JAG1	Both
187950	Thrombocythemia, Essential	Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary	Jak2	MGI:96629	JAK2	Both
254450	Myelofibrosis		Jak2	MGI:96629	JAK2	Both
263300	Polycythemia Vera	Polycythemia Rubra Vera; PRV|PV	Jak2	MGI:96629	JAK2	Both
601214	Naxos Disease	Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy|Mal De Naxos|Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair|Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities	Jup	MGI:96650	JUP	Both
611528	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; ARVD12	Arrhythmogenic Right Ventricular Cardiomyopathy 12; ARVC12	Jup	MGI:96650	JUP	Both
160120	Episodic Ataxia, Type 1; EA1	Ataxia, Episodic, with Myokymia; AEM; AEMK|Episodic Ataxia with Myokymia; EAM|Paroxysmal Ataxia with Neuromyotonia, Hereditary	Kcna1	MGI:96654	KCNA1	Both
220400	Jervell and Lange-Nielsen Syndrome 1; JLNS1	Cardioauditory Syndrome of Jervell and Lange-Nielsen|Deafness, Congenital, and Functional Heart Disease|Prolonged QT Interval in EKG and Sudden Death|Surdo-Cardiac Syndrome	Kcne1	MGI:96673	KCNE1	Both
609620	Short Qt Syndrome 1; SQT1		Kcnh2	MGI:1341722	KCNH2	Both
241200	Bartter Syndrome, Antenatal, Type 2	Hyperprostaglandin E Syndrome 2|Hypokalemic Alkalosis with Hypercalciuria, Antenatal, 2	Kcnj1	MGI:1927248	KCNJ1	Both
192500	Long QT Syndrome 1; LQT1	Romano-Ward Syndrome; RWS|Ward-Romano Syndrome; WRS	Kcnq1	MGI:108083	KCNQ1	Both
220400	Jervell and Lange-Nielsen Syndrome 1; JLNS1	Cardioauditory Syndrome of Jervell and Lange-Nielsen|Deafness, Congenital, and Functional Heart Disease|Prolonged QT Interval in EKG and Sudden Death|Surdo-Cardiac Syndrome	Kcnq1	MGI:108083	KCNQ1	Both
121200	Seizures, Benign Familial Neonatal, 1; BFNS1		Kcnq2	MGI:1309503	KCNQ2	Both
121201	Seizures, Benign Familial Neonatal, 2; BFNS2	Convulsions, Benign Familial Neonatal, 2; BFNC2	Kcnq3	MGI:1336181	KCNQ3	Both
217300	Cornea Plana 2; CNA2		Kera	MGI:1202398	KERA	Both
118210	Charcot-Marie-Tooth Disease, Axonal, Type 2a1; CMT2A1	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A1|Charcot-Marie-Tooth Disease, Neuronal, Type 2A1|Charcot-Marie-Tooth Neuropathy, Type 2A1|Hereditary Motor and Sensory Neuropathy Iia1|HMSN IIA1|HMSN2A1	Kif1b	MGI:108426	KIF1B	Both
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Kiss1r	MGI:2148793	KISS1R	Both
606764	Gastrointestinal Stromal Tumor; GIST		Kit	MGI:96677	KIT	Both
604824	Klotho; KL		Kl	MGI:1101771	KL	Both
211980	Lung Cancer		Kras	MGI:96680	KRAS	Both
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Kras	MGI:96680	KRAS	Both
116860	Cerebral Cavernous Malformations; CCM	Cavernous Angioma, Familial|Cavernous Angiomatous Malformations; CAM	Krit1	MGI:1930618	KRIT1	Both
113800	Epidermolytic Hyperkeratosis; EHK	Bullous Congenital Ichthyosiform Erythroderma; BCIE|Bullous Erythroderma Ichthyosiformis Congenita of Brocq|Bullous Ichthyosiform Erythroderma; BIE	Krt1	MGI:96698	KRT1	Both
113800	Epidermolytic Hyperkeratosis; EHK	Bullous Congenital Ichthyosiform Erythroderma; BCIE|Bullous Erythroderma Ichthyosiformis Congenita of Brocq|Bullous Ichthyosiform Erythroderma; BIE	Krt10	MGI:96685	KRT10	Both
131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type	Ebs-Dm|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type	Krt14	MGI:96688	KRT14	Both
601001	Epidermolysis Bullosa Simplex, Autosomal Recessive		Krt14	MGI:96688	KRT14	Both
167210	Pachyonychia Congenita, Type 2; PC2	Pachyonychia Congenita, Jackson-Lawler Type	Krt17	MGI:96691	KRT17	Both
146800	Ichthyosis, Bullous Type	Ichthyosis Bullosa of Siemens	Krt2	MGI:96699	KRT2	Both
193900	White Sponge Nevus; WSN	Leukokeratosis, Hereditary Mucosal|White Sponge Nevus of Cannon	Krt4	MGI:96701	KRT4	Both
131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type	Ebs-Dm|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type	Krt5	MGI:96702	KRT5	Both
167210	Pachyonychia Congenita, Type 2; PC2	Pachyonychia Congenita, Jackson-Lawler Type	Krt6b	MGI:1333768	KRT6B	Both
303350	MASA Syndrome	Adducted Thumb with Mental Retardation|Clasped Thumb and Mental Retardation|CRASH Syndrome|Gareis-Mason Syndrome|Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs|Spastic Paraplegia 1, X-Linked; SPG1|Thumb, Congenital Clasped, with Mental Retardation	L1cam	MGI:96721	L1CAM	Both
607855	Muscular Dystrophy, Congenital Merosin-Deficient, 1A; MDC1A		Lama2	MGI:99912	LAMA2	Both
226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal	Lama3	MGI:99909	LAMA3	Both
609049	Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome	Lamb2	MGI:99916	LAMB2	Both
226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal	Lamb3	MGI:99915	LAMB3	Both
226700	Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Herlitz-Pearson-Type Epidermolysis Bullosa|Jeb-Herlitz Type	Lamb3	MGI:99915	LAMB3	Both
226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type	Epidermolysis Bullosa Junctionalis, Disentis Type|Epidermolysis Bullosa Junctionalis, Non-Herlitz Type|Epidermolysis Bullosa Junctionalis, Progressive|Epidermolysis Bullosa Junctionalis, Severe Nonlethal	Lamc2	MGI:99913	LAMC2	Both
226700	Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Herlitz-Pearson-Type Epidermolysis Bullosa|Jeb-Herlitz Type	Lamc2	MGI:99913	LAMC2	Both
300257	Danon Disease	Antopol Disease|Glycogen Storage Disease IIB; GSD2B, FORMERLY|Gsd Iib, Formerly|Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency, Formerly|Pseudoglycogenosis II|Vacuolar Cardiomyopathy and Myopathy, X-Linked	Lamp2	MGI:96748	LAMP2	Both
608840	Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 6; MDDGB6	Muscular Dystrophy, Congenital, Large-Related|Muscular Dystrophy, Congenital, Type 1D; MDC1D	Large	MGI:1342270	LARGE	Both
613154	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 6; MDDGA6	Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Large-Related	Large	MGI:1342270	LARGE	Both
169400	Pelger-Huet Anomaly; PHA		Lbr	MGI:2138281	LBR	Both
604537	Leber Congenital Amaurosis 5; LCA5		Lca5	MGI:1923032	LCA5	Both
136120	Fish-Eye Disease; FED	Alpha-LCAT Deficiency|Alpha-Lecithin:cholesterol Acyltransferase Deficiency|Dyslipoproteinemic Corneal Dystrophy|LCATA Deficiency	Lcat	MGI:96755	LCAT	Both
245900	Lecithin:cholesterol Acyltransferase Deficiency	LCAT Deficiency|Norum Disease	Lcat	MGI:96755	LCAT	Both
601493	Cardiomyopathy, Dilated, 1C; CMD1C		Ldb3	MGI:1344412	LDB3	Both
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Ldlr	MGI:96765	LDLR	Both
603813	Hypercholesterolemia, Autosomal Recessive; ARH	Fhcb1, Formerly|Fhcb2, Formerly|Hypercholesterolemia, Autosomal Recessive, 1, Formerly; ARH1, Formerly|Hypercholesterolemia, Autosomal Recessive, 2, Formerly; ARH2, Formerly	Ldlrap1	MGI:2140175	LDLRAP1	Both
610915	Osteogenesis Imperfecta, Type VIII	Oi, Type VIII|Oi8	Lepre1	MGI:1888921	LEPRE1	Both
600512	Epilepsy, Familial Temporal Lobe, 1; ETL1	Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; ADLTE|Epilepsy, Partial, with Auditory Features; ADPEAF	Lgi1	MGI:1861691	LGI1	Both
221750	Pituitary Hormone Deficiency, Combined, 3; CPHD3	Deafness, Sensorineural, with Pituitary Dwarfism|Pituitary Hormone Deficiency, Combined, with Rigid Cervical Spine	Lhx3	MGI:102673	LHX3	Both
606593	LIG4 Syndrome		Lig4	MGI:1335098	LIG4	Both
278000	Lysosomal Acid Lipase Deficiency	Cholesteryl Ester Storage Disease; CESD|LIPA Deficiency	Lipa	MGI:96789	LIPA	Both
200500	Acheiropody	Acheiropodia|Acheiropody, Brazilian Type|ACHP	Lmbr1	MGI:1861746	LMBR1	Both
115200	Cardiomyopathy, Dilated, 1A; CMD1A	Cardiomyopathy, Congestive|Cardiomyopathy, Dilated, with Conduction Defect 1; CDCD1|Cardiomyopathy, Familial Idiopathic|Cardiomyopathy, Idiopathic Dilated	Lmna	MGI:96794	LMNA	Both
176670	Hutchinson-Gilford Progeria Syndrome; HGPS		Lmna	MGI:96794	LMNA	Both
181350	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2	Emd2|Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant|Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant|Scapuloilioperoneal Atrophy with Cardiopathy	Lmna	MGI:96794	LMNA	Both
605588	Charcot-Marie-Tooth Disease, Axonal, Type 2B1; CMT2B1	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1|Charcot-Marie-Tooth Disease, Neuronal, Type 2B1|Charcot-Marie-Tooth Neuropathy, Type 2B1	Lmna	MGI:96794	LMNA	Both
161200	Nail-Patella Syndrome; NPS	Fong Disease|NPS1|Onychoosteodysplasia|Turner-Kieser Syndrome	Lmx1b	MGI:1100513	LMX1B	Both
144250	Hyperlipidemia, Familial Combined; FCHL	Familial Combined Hyperlipidemia	Lpl	MGI:96820	LPL	Both
238600	Hyperlipoproteinemia, Type I	Chylomicronemia, Familial|Hyperchylomicronemia, Familial|Hyperlipemia, Essential Familial|Hyperlipemia, Idiopathic, Burger-Grutz Type|Hyperlipoproteinemia, Type IA|Lipase D Deficiency|LIPD Deficiency|Lipoprotein Lipase Deficiency|LPL Deficiency	Lpl	MGI:96820	LPL	Both
222448	Donnai-Barrow Syndrome	Dbs/Foar Syndrome|Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria|Faciooculoacousticorenal Syndrome	Lrp2	MGI:95794	LRP2	Both
212780	Cenani-Lenz Syndactyly Syndrome; CLSS	Cenani Syndactylism|Cenani-Lenz Syndactyly|Syndactyly, Type VII	Lrp4	MGI:2442252	LRP4	Both
259770	Osteoporosis-Pseudoglioma Syndrome; OPPG	OPS|Osteogenesis Imperfecta, Ocular Form	Lrp5	MGI:1278315	LRP5	Both
214500	Chediak-Higashi Syndrome; CHS		Lyst	MGI:107448	LYST	Both
610202	Cataract, Pulverulent, Juvenile-Onset		Maf	MGI:96909	MAF	Both
248500	Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis|Alpha-Mannosidosis, Type I|Lysosomal Alpha-D-Mannosidase Deficiency	Man2b1	MGI:107286	MAN2B1	Both
248510	Mannosidosis, Beta A, Lysosomal	Beta-Mannosidase Deficiency|Beta-Mannosidosis|Lysosomal Beta-Mannosidase Deficiency	Manba	MGI:88175	MANBA	Both
309850	Monoamine Oxidase A; MAOA		Maoa	MGI:96915	MAOA	Both
300615	Brunner Syndrome		Maoa	MGI:96915	MAOA	Both
250850	Methionine Adenosyltransferase Deficiency	Hypermethioninemia, Isolated Persistent|MAT Deficiency|Mat I/III Deficiency	Mat1a	MGI:88017	MAT1A	Both
607078	Epiphyseal Dysplasia, Multiple, 5; EDM5	Microepiphyseal Dysplasia, Bilateral Hereditary; BHMED|Multiple Epiphyseal Dysplasia, MATN3-Related	Matn3	MGI:1328350	MATN3	Both
202200	Glucocorticoid Deficiency 1; GCCD1	ACTH Resistance|Adrenal Unresponsiveness to Acth|Familial Glucocorticoid Deficiency 1; FGD1	Mc2r	MGI:96928	MC2R	Both
601665	Obesity		Mc3r	MGI:96929	MC3R	Both
601665	Obesity		Mc4r	MGI:99457	MC4R	Both
252650	Mucolipidosis IV	Ml IV; ML4|Sialolipidosis	Mcoln1	MGI:1890498	MCOLN1	Both
251200	Microcephaly 1, Primary, Autosomal Recessive; MCPH1	Pcc Syndrome|Premature Chromosome Condensation Syndrome|Premature Chromosome Condensation with Microcephaly and Mental Retardation	Mcph1	MGI:2443308	MCPH1	Both
312750	Rett Syndrome; RTT	RTS	Mecp2	MGI:99918	MECP2	Both
249100	Familial Mediterranean Fever; FMF	Familial Mediterranean Fever, Autosomal Recessive|Polyserositis, Familial Paroxysmal|Polyserositis, Recurrent	Mefv	MGI:1859396	MEFV	Both
131100	Multiple Endocrine Neoplasia, Type I; MEN1	Endocrine Adenomatosis, Multiple|MEA I|MEN I	Men1	MGI:1316736	MEN1	Both
145000	Hyperparathyroidism 1; HRPT1		Men1	MGI:1316736	MEN1	Both
611015	Autism, Susceptibility to, 9; AUTS9		Met	MGI:96969	MET	Both
212066	Congenital Disorder of Glycosylation, Type IIA; CDG2A	Carbohydrate-Deficient Glycoprotein Syndrome, Type II, Formerly; CDGS2, FORMERLY|Cdg IIA; CDGIIA	Mgat2	MGI:2384966	MGAT2	Both
300000	Opitz Gbbb Syndrome, X-Linked	Hypertelorism with Esophageal Abnormality and Hypospadias|Hypertelorism-Hypospadias Syndrome|Opitz BBBG Syndrome, Type I; BBBG1|Opitz Gbbb Syndrome, Type I; GGGB1|Opitz Syndrome, X-Linked; OSX|Opitz Syndrome; OS|Opitz-G Syndrome, Type I; OGS1|Telecanthus-Hypospadias Syndrome	Mid1	MGI:1100537	MID1	Both
154050	Major Intrinsic Protein of Lens Fiber; MIP	LIM1|MIP26|MP26	Mip	MGI:96990	MIP	Both
604219	Cataract, Autosomal Dominant		Mip	MGI:96990	MIP	Both
103470	Albinism, Ocular, with Sensorineural Deafness	Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; WS2-OA	Mitf	MGI:104554	MITF	Both
103500	Tietz Syndrome	Albinism-Deafness of Tietz|Hypopigmentation/Deafness of Tietz|Tietz Albinism-Deafness Syndrome	Mitf	MGI:104554	MITF	Both
193510	Waardenburg Syndrome, Type 2A; WS2A	Waardenburg Syndrome without Dystopia Canthorum|Waardenburg Syndrome, Type IIA|WS2	Mitf	MGI:104554	MITF	Both
209900	Bardet-Biedl Syndrome; BBS		Mkks	MGI:1891836	MKKS	Both
249000	Meckel Syndrome, Type 1; MKS1	Dysencephalia Splanchnocystica|Gruber Syndrome|Meckel Syndrome; MKS|Meckel-Gruber Syndrome|Meckel-Gruber Syndrome, Type 1|MES	Mks1	MGI:3584243	MKS1	Both
609310	Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2	COCA2|Colon Cancer, Familial Nonpolyposis, Type 2; FCC2	Mlh1	MGI:101938	MLH1	Both
612529	Amelogenesis Imperfecta, Hypomaturation Type, Iia2; AI2A2	Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2	Mmp20	MGI:1353466	MMP20	Both
252150	Molybdenum Cofactor Deficiency	MOCOD	Mocs1	MGI:1928904	MOCS1	Both
604498	Amegakaryocytic Thrombocytopenia, Congenital; CAMT		Mpl	MGI:97076	MPL	Both
254600	Myeloperoxidase Deficiency; MPOD	MPO Deficiency	Mpo	MGI:97137	MPO	Both
251880	Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3		Mpv17	MGI:97138	MPV17	Both
118200	Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; CMT1B	Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B|Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked to Duffy|Charcot-Marie-Tooth Neuropathy, Type 1B|Hereditary Motor and Sensory Neuropathy I; HMSN I|Hereditary Motor and Sensory Neuropathy IB; HMSN IB|HMSN1|HMSN1B|Peroneal Muscular Atrophy	Mpz	MGI:103177	MPZ	Both
145900	Hypertrophic Neuropathy of Dejerine-Sottas	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F; CMT4F|Charcot-Marie-Tooth Disease, Type 3; CMT3|Dejerine-Sottas Neuropathy; DSN|Dejerine-Sottas Syndrome; DSS|Hereditary Motor and Sensory Neuropathy Type III; HMSN3	Mpz	MGI:103177	MPZ	Both
120435	Lynch Syndrome I	Colon Cancer, Familial Nonpolyposis, Type 1; FCC1|Colorectal Cancer, Hereditary Nonpolyposis, Type 1; HNPCC1	Msh2	MGI:101816	MSH2	Both
106600	Tooth Agenesis, Selective, 1; STHAG1	Hypodontia/Oligodontia 1; HYD1|Second Premolars and Third Molars, Absence of	Msx1	MGI:97168	MSX1	Both
608874	Orofacial Cleft 5; OFC5	Cleft Lip with or without Cleft Palate, Nonsyndromic, 5	Msx1	MGI:97168	MSX1	Both
168500	Parietal Foramina; PFM	Catlin Marks|Cranium Bifidum Occultum|Foramina Parietalia Permagna; FPP|Parietal Foramina, Symmetric	Msx2	MGI:97169	MSX2	Both
604757	Craniosynostosis, Type 2; CRS2	Craniosynostosis, Boston-Type; CSB	Msx2	MGI:97169	MSX2	Both
172460	Methylenetetrahydrofolate Dehydrogenase 1; MTHFD1	C1-Tetrahydrofolate Synthase, Cytoplasmic|Cyclohydrolase/Formyltetrahydrofolate Synthetase, Nadp(+)-Dependent|Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase, Nadp(+)-Dependent	Mthfd1	MGI:1342005	MTHFD1	Both
601634	Neural Tube Defects, Folate-Sensitive		Mthfr	MGI:106639	MTHFR	Both
601382	Charcot-Marie-Tooth Disease, Type 4b1; CMT4B1	Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B1|Charcot-Marie-Tooth Disease, Type 4b; CMT4B|Charcot-Marie-Tooth Neuropathy, Type 4B1	Mtmr2	MGI:1924366	MTMR2	Both
608931	Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Type ID; CMS1D	Musk	MGI:103581	MUSK	Both
251000	Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency	Methylmalonic Acidemia Due to Methylmalonyl-Coa Mutase Deficiency Mma Due to Mcm Deficiency	Mut	MGI:97239	MUT	Both
115197	Cardiomyopathy, Familial Hypertrophic, 4; CMH4		Mybpc3	MGI:102844	MYBPC3	Both
113970	Burkitt Lymphoma; BL		Myc	MGI:97250	MYC	Both
613251	Cardiomyopathy, Familial Hypertrophic, 14; CMH14		Myh6	MGI:97255	MYH6	Both
600316	Deafness, Autosomal Recessive 3; DFNB3	Neurosensory Nonsyndromic Recessive Deafness 3; NSRD3	Myo15	MGI:1261811	MYO15A	Both
607101	Deafness, Autosomal Recessive 30; DFNB30		Myo3a	MGI:2183924	MYO3A	Both
214450	Griscelli Syndrome, Type 1; GS1	Griscelli Syndrome with Neurologic Impairment|Griscelli Syndrome, Cutaneous and Neurologic Type|Partial Albinism and Primary Neurologic Disease without Hemophagocytic Syndrome	Myo5a	MGI:105976	MYO5A	Both
606346	Deafness, Autosomal Dominant 22; DFNA22		Myo6	MGI:104785	MYO6	Both
607821	Deafness, Autosomal Recessive 37; DFNB37		Myo6	MGI:104785	MYO6	Both
276900	Usher Syndrome, Type I; USH1	Us1	Myo7a	MGI:104510	MYO7A	Both
252920	Mucopolysaccharidosis Type IIIB	MPS IIIB; MPS3B|N-Acetyl-Alpha-D-Glucosaminidase Deficiency|Naglu Deficiency|Sanfilippo Syndrome B	Naglu	MGI:1351641	NAGLU	Both
251260	Nijmegen Breakage Syndrome	Ataxia-Telangiectasia Variant V1; AT-V1|Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies|NBS|Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence|Seemanova Syndrome II	Nbn	MGI:1351625	NBN	Both
176270	Prader-Willi Syndrome; PWS		Ndn	MGI:97290	NDN	Both
305390	Exudative Vitreoretinopathy 2, X-Linked; EVR2	EVRX|Exudative Vitreoretinopathy, Familial, 2|FEVR, X-Linked; FEVRX	Ndp	MGI:102570	NDP	Both
310600	Norrie Disease; ND	Atrophia Bulborum Hereditaria|Episkopi Blindness	Ndp	MGI:102570	NDP	Both
601455	Charcot-Marie-Tooth Disease, Type 4D; CMT4D	Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d|Charcot-Marie-Tooth Neuropathy, Type 4d|HMSN4D|Neuropathy, Hereditary Motor and Sensory, Lom Type; HMSNL	Ndrg1	MGI:1341799	NDRG1	Both
256000	Leigh Syndrome; LS		Ndufs4	MGI:1343135	NDUFS4	Both
256030	Nemaline Myopathy 2; NEM2		Neb	MGI:97292	NEB	Both
256550	Neuraminidase Deficiency	Glycoprotein Neuraminidase Deficiency|Lipomucopolysaccharidosis|ML I|Mucolipidosis I|NEU Deficiency|NEUG Deficiency|Neuraminidase 1 Deficiency|Sialidase Deficiency|Sialidosis, Type II	Neu1	MGI:97305	NEU1	Both
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Nf1	MGI:97306	NF1	Both
607174	Meningioma, Familial		Nf2	MGI:97307	NF2	Both
254780	Myoclonic Epilepsy of Lafora	Epilepsy, Progressive Myoclonic 2A; EPM2A|Lafora Body Disease; LBD|Lafora Disease|MELF	Nhlrc1	MGI:2145264	NHLRC1	Both
302350	Nance-Horan Syndrome; NHS	Cataract, X-Linked, with Hutchinsonian Teeth|Cataract-Dental Syndrome|Mesiodens-Cataract Syndrome	Nhs	MGI:2684894	NHS	Both
122470	Cornelia De Lange Syndrome 1; CDLS1	Brachmann-De Lange Syndrome; BDLS|CDL|Cdls|De Lange Syndrome|Typus Degenerativus Amstelodamensis	Nipbl	MGI:1913976	NIPBL	Both
300425	Autism, Susceptibility to, X-Linked 1; AUTSX1		Nlgn3	MGI:2444609	NLGN3	Both
120100	Familial Cold Autoinflammatory Syndrome 1; FCAS1	Cold Hypersensitivity|Cold Urticaria, Familial; FCU|Cold-Induced Autoinflammatory Syndrome, Familial|Fcas	Nlrp3	MGI:2653833	NLRP3	Both
191900	Muckle-Wells Syndrome; MWS	UDA Syndrome|Urticaria-Deafness-Amyloidosis Syndrome	Nlrp3	MGI:2653833	NLRP3	Both
266600	Inflammatory Bowel Disease 1; IBD1		Nod2	MGI:2429397	NOD2	Both
179010	Pyloric Stenosis, Infantile Hypertrophic 1; IHPS1	Pyloric Stenosis, Infantile|Pyloric Stenosis, Infantile Hypertrophic; IHPS	Nos1	MGI:97360	NOS1	Both
145500	Hypertension, Essential	EHT	Nos3	MGI:97362	NOS3	Both
125310	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy; CADASIL	CASIL|Dementia, Hereditary Multi-Infarct Type	Notch3	MGI:99460	NOTCH3	Both
257220	Niemann-Pick Disease, Type C1; NPC1	Niemann-Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Subacute Juvenile Form|Niemann-Pick Disease, Type C; NPC	Npc1	MGI:1097712	NPC1	Both
604387	Nephronophthisis 3; NPHP3	NPH3	Nphp3	MGI:1921275	NPHP3	Both
256300	Nephrotic Syndrome, Type 1; NPHS1	Finnish Congenital Nephrosis; CNF|Nephrotic Syndrome, Congenital	Nphs1	MGI:1859637	NPHS1	Both
600995	Nephrotic Syndrome, Type 2; NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; SRN1	Nphs2	MGI:2157018	NPHS2	Both
602875	Acromesomelic Dysplasia, Maroteaux Type; AMDM		Npr2	MGI:97372	NPR2	Both
300200	Adrenal Hypoplasia, Congenital; AHC	Addison Disease, X-Linked; AHX|Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism; AHCH|Ahc with Hhg|Cytomegalic Adrenocortical Hypoplasia	Nr0b1	MGI:1352460	NR0B1	Both
268100	Enhanced S-Cone Syndrome; ESCS		Nr2e3	MGI:1346317	NR2E3	Both
177735	Pseudohypoaldosteronism, Type I, Autosomal Dominant; PHA1A	Pha I, Autosomal Dominant	Nr3c2	MGI:99459	NR3C2	Both
256800	Insensitivity to Pain, Congenital, with Anhidrosis; CIPA	Familial Dysautonomia, Type II|Hereditary Sensory and Autonomic Neuropathy IV; HSAN4|HSAN IV|Neuropathy, Congenital Sensory, with Anhidrosis	Ntrk1	MGI:97383	NTRK1	Both
310500	Night Blindness, Congenital Stationary, Type 1A; CSNB1A	Csnb, Complete, X-Linked|Hemeralopia-Myopia|Night Blindness, Congenital Stationary, with Myopia	Nyx	MGI:2448607	NYX	Both
258870	Gyrate Atrophy of Choroid and Retina; GACR	Gyrate Atrophy|Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; HOGA|OAT Deficiency|OKT Deficiency|Ornithine Aminotransferase Deficiency|Ornithine Keto Acid Aminotransferase Deficiency|Ornithine-Delta-Aminotransferase Deficiency	Oat	MGI:97394	OAT	Both
311200	Orofaciodigital Syndrome I; OFD1	Ofds I|Oral-Facial-Digital Syndrome, Type I|Papillon-Leage and Psaume Syndrome	Ofd1	MGI:1350328	OFD1	Both
165500	Optic Atrophy 1; OPA1	Kjer-Type Optic Atrophy|Optic Atrophy, Juvenile|Optic Atrophy, Kjer Type; OAK	Opa1	MGI:1921393	OPA1	Both
300486	Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance	Mental Retardation, X-Linked 60, Formerly; MRX60, FORMERLY	Ophn1	MGI:2151070	OPHN1	Both
259700	Osteopetrosis, Autosomal Recessive 1; OPTB1	Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|Osteopetrosis, Infantile Malignant 1	Ostm1	MGI:2655574	OSTM1	Both
311250	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to	Ornithine Carbamoyltransferase Deficiency	Otc	MGI:97448	OTC	Both
601071	Deafness, Autosomal Recessive 9; DFNB9		Otof	MGI:1891247	OTOF	Both
247200	Miller-Dieker Lissencephaly Syndrome; MDLS		Pafah1b1	MGI:109520	PAFAH1B1	Both
607432	Lissencephaly 1; LIS1	Lissencephaly Sequence, Isolated; ILS	Pafah1b1	MGI:109520	PAFAH1B1	Both
261600	Phenylketonuria; PKU	Oligophrenia Phenylpyruvica|PAH Deficiency|Phenylalanine Hydroxylase Deficiency	Pah	MGI:97473	PAH	Both
612847	Spondyloepimetaphyseal Dysplasia, Pakistani Type		Papss2	MGI:1330223	PAPSS2	Both
600116	Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2	Parkinson Disease, Juvenile, Autosomal Recessive; PDJ|Parkinsonism, Early-Onset, with Diurnal Fluctuation; EPDF	Park2	MGI:1355296	PARK2	Both
606324	Parkinson Disease 7, Autosomal Recessive Early-Onset; PARK7		Park7	MGI:2135637	PARK7	Both
120330	Papillorenal Syndrome	Coloboma of Optic Nerve with Renal Disease|Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies|Optic Nerve Coloboma with Renal Disease|Renal-Coloboma Syndrome	Pax2	MGI:97486	PAX2	Both
193500	Waardenburg Syndrome, Type 1; WS1	Waardenburg Syndrome with Dystopia Canthorum	Pax3	MGI:97487	PAX3	Both
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Pax3	MGI:97487	PAX3	Both
106210	Aniridia; AN	Aniridia II, Formerly; AN2, FORMERLY	Pax6	MGI:97490	PAX6	Both
148190	Keratitis, Hereditary		Pax6	MGI:97490	PAX6	Both
604219	Cataract, Autosomal Dominant		Pax6	MGI:97490	PAX6	Both
604229	Peters Anomaly		Pax6	MGI:97490	PAX6	Both
218700	Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2	Athyreotic Hypothyroidism|Hypothyroidism, Athyreotic|Hypothyroidism, Congenital, Due to Thyroid Dysgenesis|Resistance to Thyrotropin; RTSH|Thyroid Agenesis|Thyroid Dysgenesis|Thyroid Hypoplasia|Thyroid, Ectopic|Thyrotropin Resistance	Pax8	MGI:97492	PAX8	Both
106600	Tooth Agenesis, Selective, 1; STHAG1	Hypodontia/Oligodontia 1; HYD1|Second Premolars and Third Molars, Absence of	Pax9	MGI:97493	PAX9	Both
604625	Tooth Agenesis, Selective, 3; STHAG3	Hypodontia/Oligodontia 3	Pax9	MGI:97493	PAX9	Both
602083	Usher Syndrome, Type IF; USH1F		Pcdh15	MGI:1891428	PCDH15	Both
605218	Systemic Lupus Erythematosus, Susceptibility to, 2; SLEB2		Pdcd1	MGI:104879	PDCD1	Both
603285	Cerebral Cavernous Malformations 3; CCM3		Pdcd10	MGI:1928396	PDCD10	Both
163500	Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2	Night Blindness, Congenital Stationary, Rambusch Type	Pde6b	MGI:97525	PDE6B	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Pdx1	MGI:102851	PDX1	Both
606392	Maturity-Onset Diabetes of the Young, Type 4; MODY4	Mody, Type 4	Pdx1	MGI:102851	PDX1	Both
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex13	MGI:1919379	PEX13	Both
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex5	MGI:1098808	PEX5	Both
215100	Rhizomelic Chondrodysplasia Punctata, Type 1; RCDP1	Chondrodysplasia Punctata, Rhizomelic Form; CDPR|Chondrodystrophia Calcificans Punctata	Pex7	MGI:1321392	PEX7	Both
232800	Glycogen Storage Disease VII	Gsd VII; GSD7|Muscle Phosphofructokinase Deficiency|PFKM Deficiency|Tarui Disease	Pfkm	MGI:97548	PFKM	Both
307800	Hypophosphatemic Rickets, X-Linked Dominant; XLHR	HYP|Hypophosphatemia, X-Linked; XLH|Hypophosphatemic Vitamin D-Resistant Rickets; HPDR|Vitamin D-Resistant Rickets, X-Linked	Phex	MGI:107489	PHEX	Both
300559	Glycogen Storage Disease, Type Ixd; GSD9D	Gsd Ixd|Muscle Glycogenosis, X-Linked|Muscle Phosphorylase Kinase Deficiency	Phka1	MGI:97576	PHKA1	Both
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Phox2b	MGI:1100882	PHOX2B	Both
266500	Refsum Disease, Adult	Hereditary Motor and Sensory Neuropathy IV; HSMN4|Heredopathia Atactica Polyneuritiformis|Phytanic Acid Oxidase Deficiency|Refsum Disease, Classic	Phyh	MGI:891978	PHYH	Both
605909	Parkinson Disease 6, Autosomal Recessive Early-Onset; PARK6		Pink1	MGI:1916193	PINK1	Both
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Pitx1	MGI:107374	PITX1	Both
180500	Axenfeld-Rieger Syndrome, Type 1; RIEG1	RGS|RIEG|Rieger Syndrome, Type 1	Pitx2	MGI:109340	PITX2	Both
107250	Anterior Segment Mesenchymal Dysgenesis; ASMD	Anterior Segment Ocular Dysgenesis; ASOD	Pitx3	MGI:1100498	PITX3	Both
173900	Polycystic Kidney Disease 1; PKD1		Pkd1	MGI:97603	PKD1	Both
613095	Polycystic Kidney Disease 2; PKD2	Polycystic Kidney Disease, Adult, Type II; APKD2	Pkd2	MGI:1099818	PKD2	Both
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Pkhd1	MGI:2155808	PKHD1	Both
256600	Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A	Inad|Neuroaxonal Dystrophy, Infantile; INAD1|Neurodegeneration, Pla2g6-Associated; PLAN|Seitelberger Disease	Pla2g6	MGI:1859152	PLA2G6	Both
104300	Alzheimer Disease; AD		Plau	MGI:97611	PLAU	Both
131950	Epidermolysis Bullosa Simplex, Ogna Type	Ebs-Og	Plec	MGI:1277961	PLEC	Both
226670	Epidermolysis Bullosa Simplex with Muscular Dystrophy	Ebs-Md|Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy|MD-EBS; MDEBS	Plec	MGI:1277961	PLEC	Both
217090	Plasminogen Deficiency, Type I		Plg	MGI:97620	PLG	Both
312080	Pelizaeus-Merzbacher Disease; PMD	Leukodystrophy, Hypomyelinating, 1; HLD1	Plp1	MGI:97623	PLP1	Both
312920	Spastic Paraplegia 2, X-Linked; SPG2	SPPX2	Plp1	MGI:97623	PLP1	Both
118220	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A	Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Hereditary Motor and Sensory Neuropathy IA; HMSN IA|HMSN1A	Pmp22	MGI:97631	PMP22	Both
162500	Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP	Polyneuropathy, Familial Recurrent|Tomaculous Neuropathy	Pmp22	MGI:97631	PMP22	Both
278750	Xeroderma Pigmentosum, Variant Type; XPV	Photosensitivity with Defective DNA Synthesis|Xeroderma Pigmentosum with Normal DNA Repair Rates	Polh	MGI:1891457	POLH	Both
601665	Obesity		Pomc	MGI:97742	POMC	Both
609734	Proopiomelanocortin Deficiency	Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair	Pomc	MGI:97742	POMC	Both
253280	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 3; MDDGA3	Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related	Pomgnt1	MGI:1915523	POMGNT1	Both
305600	Focal Dermal Hypoplasia; FDH	Fodh; DHOF|Goltz Syndrome|Goltz-Gorlin Syndrome	Porcn	MGI:1890212	PORCN	Both
304400	Deafness, X-Linked 2; DFNX2	Deafness 3, Conductive, with Stapes Fixation; DFN3|Deafness, Conductive, with Stapes Fixation|Deafness, Mixed, with Perilymphatic Gusher|Nance Deafness|Perilymphatic Gusher-Deafness Syndrome	Pou3f4	MGI:101894	POU3F4	Both
604367	Lipodystrophy, Familial Partial, Type 3; FPLD3	Lipodystrophy, Familial Partial, Associated with PPARG Mutations	Pparg	MGI:97747	PPARG	Both
256730	Ceroid Lipofuscinosis, Neuronal, 1; CLN1		Ppt1	MGI:1298204	PPT1	Both
208250	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome; CACP	Arthropathy-Camptodactyly Syndrome|Camptodactyly-Arthropathy-Pericarditis Syndrome|CAP Syndrome|Fibrosing Serositis, Familial|Hypertrophic Synovitis, Congenital Familial|Jacobs Syndrome|PAC Syndrome|Pericarditis-Arthropathy-Camptodactyly Syndrome	Prg4	MGI:1891344	PRG4	Both
160980	Carney Complex, Type 1; CNC1	Carney Myxoma-Endocrine Complex|Carney Syndrome; CAR|Lamb Syndrome|Myxoma, Spotty Pigmentation, and Endocrine Overactivity|Name Syndrome	Prkar1a	MGI:104878	PRKAR1A	Both
610489	Pigmented Nodular Adrenocortical Disease, Primary, 1; PPNAD1	Adrenocortical Nodular Dysplasia, Primary|Cushing Syndrome, Adrenal, Due to Ppnad1|Pigmented Micronodular Adrenocortical Disease, Primary, 1	Prkar1a	MGI:104878	PRKAR1A	Both
123400	Creutzfeldt-Jakob Disease; CJD		Prnp	MGI:97769	PRNP	Both
137440	Gerstmann-Straussler Disease; GSD	Amyloidosis, Cerebral, with Spongiform Encephalopathy|Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns|Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type|Gerstmann-Straussler-Scheinker Disease; GSSD|Prion Dementia	Prnp	MGI:97769	PRNP	Both
600072	Fatal Familial Insomnia; FFI	Insomnia, Fatal Familial	Prnp	MGI:97769	PRNP	Both
239500	Hyperprolinemia, Type I; HPI	Proline Oxidase Deficiency	Prodh	MGI:97770	PRODH	Both
612095	Retinitis Pigmentosa 41; RP41	Retinal Degeneration, Autosomal Recessive, Prominin-Related	Prom1	MGI:1100886	PROM1	Both
262600	Pituitary Hormone Deficiency, Combined, 2; CPHD2	Ateliotic Dwarfism with Hypogonadism|Hanhart Dwarfism|Panhypopituitarism|Pituitary Dwarfism III	Prop1	MGI:109330	PROP1	Both
601414	Retinitis Pigmentosa 18; RP18		Prpf3	MGI:1918017	PRPF3	Both
600138	Retinitis Pigmentosa 11; RP11		Prpf31	MGI:1916238	PRPF31	Both
600059	Retinitis Pigmentosa 13; RP13		Prpf8	MGI:2179381	PRPF8	Both
608133	Retinitis Pigmentosa 7; RP7		Prph2	MGI:102791	PRPH2	Both
249900	Metachromatic Leukodystrophy Due to Saposin B Deficiency	Metachromatic Leukodystrophy Due to Cerebroside Sulfatase Activator Deficiency|Saposin B Deficiency	Psap	MGI:97783	PSAP	Both
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Psen1	MGI:1202717	PSEN1	Both
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Psen2	MGI:109284	PSEN2	Both
109400	Basal Cell Nevus Syndrome; BCNS	Gorlin Syndrome|Gorlin-Goltz Syndrome|Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies|Nevoid Basal Cell Carcinoma Syndrome; NBCCS	Ptch1	MGI:105373	PTCH1	Both
155255	Medulloblastoma; MDB		Ptch1	MGI:105373	PTCH1	Both
605462	Basal Cell Carcinoma, Susceptibility to, 1; BCC1		Ptch1	MGI:105373	PTCH1	Both
155255	Medulloblastoma; MDB		Ptch2	MGI:1095405	PTCH2	Both
153480	Bannayan-Riley-Ruvalcaba Syndrome; BRRS	Bannayan-Zonana Syndrome; BZS|Macrocephaly, Multiple Lipomas, and Hemangiomata|Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata|Riley-Smith Syndrome|Ruvalcaba-Myhre-Smith Syndrome; RMSS	Pten	MGI:109583	PTEN	Both
158350	Cowden Disease; CD	Cowden Syndrome; CS	Pten	MGI:109583	PTEN	Both
176807	Prostate Cancer		Pten	MGI:109583	PTEN	Both
188470	Thyroid Carcinoma, Follicular; FTC		Pten	MGI:109583	PTEN	Both
608089	Endometrial Cancer		Pten	MGI:109583	PTEN	Both
151100	Leopard Syndrome 1	Lentiginosis, Cardiomyopathic|Multiple Lentigines Syndrome	Ptpn11	MGI:99511	PTPN11	Both
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Ptpn11	MGI:99511	PTPN11	Both
607785	Juvenile Myelomonocytic Leukemia; JMML		Ptpn11	MGI:99511	PTPN11	Both
152700	Systemic Lupus Erythematosus; SLE		Ptpn22	MGI:107170	PTPN22	Both
613327	Lipodystrophy, Congenital Generalized, Type 4; CGL4	Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy|Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy	Ptrf	MGI:1277968	PTRF	Both
261640	Hyperphenylalaninemia, Bh4-Deficient, A; HPABH4A	6-pyruvoyl-Tetrahydropterin Synthase Deficiency|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pts Deficiency	Pts	MGI:1338783	PTS	Both
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pxmp3	MGI:107486	PEX2	Both
611553	Noonan Syndrome 5; NS5		Raf1	MGI:97847	RAF1	Both
601457	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	SCID, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Rag2	MGI:97849	RAG2	Both
603554	Omenn Syndrome	Reticuloendotheliosis, Familial, with Eosinophilia|Severe Combined Immunodeficiency with Hypereosinophilia	Rag2	MGI:97849	RAG2	Both
182290	Smith-Magenis Syndrome; SMS		Rai1	MGI:103291	RAI1	Both
180200	Retinoblastoma; RB1	Rb	Rb1	MGI:97874	RB1	Both
268400	Rothmund-Thomson Syndrome; RTS	Poikiloderma Atrophicans and Cataract	Recql4	MGI:1931028	RECQL4	Both
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Ret	MGI:97902	RET	Both
162300	Multiple Endocrine Neoplasia, Type IIB; MEN2B	MEN IIB|Mucosal Neuroma Syndrome|Multiple Endocrine Neoplasia, Type III, Formerly; MEN3, FORMERLY|Neuromata, Mucosal, with Endocrine Tumors	Ret	MGI:97902	RET	Both
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Ret	MGI:97902	RET	Both
607475	Bothnia Retinal Dystrophy	Vasterbotten Dystrophy	Rlbp1	MGI:97930	RLBP1	Both
268310	Robinow Syndrome, Autosomal Recessive; RRS	Costovertebral Segmentation Defect with Mesomelia, Formerly	Ror2	MGI:1347521	ROR2	Both
180100	Retinitis Pigmentosa 1; RP1		Rp1	MGI:1341105	RP1	Both
204100	Leber Congenital Amaurosis 2; LCA2	Amaurosis Congenita of Leber II	Rpe65	MGI:98001	RPE65	Both
300029	Retinitis Pigmentosa 3; RP3	Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women|Cone-Rod Degeneration, X-Linked|Retinitis Pigmentosa 15; RP15	Rpgr	MGI:1344037	RPGR	Both
304020	Cone-Rod Dystrophy, X-Linked, 1; CORDX1	Cone Dystrophy 1, X-Linked; COD1	Rpgr	MGI:1344037	RPGR	Both
303600	Coffin-Lowry Syndrome; CLS		Rps6ka3	MGI:104557	RPS6KA3	Both
312700	Retinoschisis 1, X-Linked, Juvenile; RS1	Rs|XLRS1	Rs1	MGI:1336189	RS1	Both
119600	Cleidocranial Dysplasia; CCD		Runx2	MGI:99829	RUNX2	Both
117000	Central Core Disease of Muscle	CCD	Ryr1	MGI:99659	RYR1	Both
145600	Malignant Hyperthermia, Susceptibility to, 1; MHS1	Hyperthermia of Anesthesia|MHS	Ryr1	MGI:99659	RYR1	Both
255320	Minicore Myopathy with External Ophthalmoplegia	Minicore Myopathy|Multicore Myopathy|Multiminicore Disease with External Ophthalmoplegia|Multiminicore Myopathy Multicore Myopathy with External Ophthalmoplegia	Ryr1	MGI:99659	RYR1	Both
600996	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2; ARVD2	Arrhythmogenic Right Ventricular Cardiomyopathy 2; ARVC2	Ryr2	MGI:99685	RYR2	Both
604772	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy; CPVT1	Ventricular Tachycardia, Stress-Induced Polymorphic; VTSIP	Ryr2	MGI:99685	RYR2	Both
107480	Townes-Brocks Syndrome; TBS	Anus, Imperforate, with Hand, Foot, and Ear Anomalies|REAR Syndrome|Renal-Ear-Anal-Radial Syndrome	Sall1	MGI:1889585	SALL1	Both
607323	Duane-Radial Ray Syndrome; DRRS	Acrorenoocular Syndrome|DR Syndrome|Duane Anomaly with Radial Ray Abnormalities and Deafness|Okihiro Syndrome	Sall4	MGI:2139360	SALL4	Both
119540	Cleft Palate, Isolated; CPI		Satb2	MGI:2679336	SATB2	Both
604563	Charcot-Marie-Tooth Disease, Type 4b2; CMT4B2	Charcot-Marie-Tooth Disease, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2	Sbf2	MGI:1921831	SBF2	Both
607330	Lathosterolosis	Sc5d Deficiency|Sterol C5-Desaturase Deficiency	Sc5d	MGI:1353611	SC5DL	Both
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Scn1a	MGI:98246	SCN1A	Both
607208	Dravet Syndrome	Epileptic Encephalopathy, Early Infantile, 6; EIEE6|Severe Myoclonic Epilepsy of Infancy; SMEI	Scn1a	MGI:98246	SCN1A	Both
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Scn1b	MGI:98247	SCN1B	Both
613120	Brugada Syndrome 7; BRGDA7		Scn3b	MGI:1918882	SCN3B	Both
170500	Hyperkalemic Periodic Paralysis; HYPP	Adynamia Episodica Hereditaria with or without Myotonia	Scn4a	MGI:98250	SCN4A	Both
613345	Hypokalemic Periodic Paralysis, Type 2; HOKPP2		Scn4a	MGI:98250	SCN4A	Both
113900	Progressive Familial Heart Block, Type IA; PFHB1A	Bundle Branch Block|Cardiac Conduction Defect, Progressive; PCCD|Heart Block, Progressive Familial, Type I; PFHBI|Lenegre-Lev Disease|Pfhbia	Scn5a	MGI:98251	SCN5A	Both
601144	Brugada Syndrome 1; BRGDA1	Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome	Scn5a	MGI:98251	SCN5A	Both
603830	Long QT Syndrome 3; LQT3		Scn5a	MGI:98251	SCN5A	Both
177200	Liddle Syndrome	Pseudoaldosteronism	Scnn1b	MGI:104696	SCNN1B	Both
264350	Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B	Pha I, Autosomal Recessive	Scnn1b	MGI:104696	SCNN1B	Both
264350	Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B	Pha I, Autosomal Recessive	Scnn1g	MGI:104695	SCNN1G	Both
602771	Rigid Spine Muscular Dystrophy 1; RSMD1	Desmin-Related Myopathy with Mallory Bodies|Minicore Myopathy, Severe Classic Form|Multicore Myopathy, Severe Classic Form|Multiminicore Disease, Severe Classic Form|Muscular Dystrophy, Congenital, Eichsfeld Type|Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity; MDRS1|Myopathy, Sepn1-Related|Rigid Spine Syndrome; RSS	Sepn1	MGI:2151208	SEPN1	Both
611489	Corticosteroid-Binding Globulin Deficiency	Cbg Deficiency	Serpina6	MGI:88278	SERPINA6	Both
613118	Antithrombin III Deficiency; AT3D	Thrombophilia, Susceptibility to, Due to Antithrombin III Deficiency	Serpinc1	MGI:88095	SERPINC1	Both
262850	Alpha-2-Plasmin Inhibitor Deficiency	Antiplasmin Deficiency|Plasmin Inhibitor Deficiency	Serpinf2	MGI:107173	SERPINF2	Both
604218	Encephalopathy, Familial, with Neuroserpin Inclusion Bodies; FENIB	Encephalopathy, Familial, with Collins Bodies	Serpini1	MGI:1194506	SERPINI1	Both
608099	Muscular Dystrophy, Limb-Girdle, Type 2D; LGMD2D	Adhalinopathy, Primary|Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; DMDA2	Sgca	MGI:894698	SGCA	Both
604286	Muscular Dystrophy, Limb-Girdle, Type 2E; LGMD2E		Sgcb	MGI:1346523	SGCB	Both
601287	Muscular Dystrophy, Limb-Girdle, Type 2F; LGMD2F		Sgcd	MGI:1346525	SGCD	Both
606685	Cardiomyopathy, Dilated, 1L; CMD1L		Sgcd	MGI:1346525	SGCD	Both
159900	Myoclonic Dystonia	Dystonia 11; DYT11|Dystonia, Alcohol-Responsive|Myoclonus, Hereditary Essential|Myoclonus-Dystonia Syndrome	Sgce	MGI:1329042	SGCE	Both
253700	Muscular Dystrophy, Limb-Girdle, Type 2c; LGMD2C	Adhalin Deficiency, Secondary|DMDA|Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; DMDA1|Maghrebian Myopathy|Muscular Dystrophy, Duchenne-Like|Sarcoglycan, Gamma, Deficiency of|Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; SCARMD	Sgcg	MGI:1346524	SGCG	Both
252900	Mucopolysaccharidosis Type IIIA	Heparan Sulfate Sulfatase Deficiency|MPS IIIA|MPS3A|Sanfilippo Syndrome A|Sulfamidase Deficiency	Sgsh	MGI:1350341	SGSH	Both
308240	Lymphoproliferative Syndrome, X-Linked, 1; XLP1	Duncan Disease|Ebv Infection, Severe, Susceptibility To; EBVS|Epstein-Barr Virus Infection, Familial Fatal|Immunodeficiency 5; IMD5|Immunodeficiency, X-Linked Progressive Combined Variable|Infectious Mononucleosis, Severe, Susceptibility to|Lymphoproliferative Disease, X-Linked; XLPD|LYP|Purtilo Syndrome|XLP	Sh2d1a	MGI:1328352	SH2D1A	Both
118400	Cherubism	CRBM	Sh3bp2	MGI:1346349	SH3BP2	Both
249420	Frank-Ter Haar Syndrome; FTHS	Melnick-Needles Syndrome, Autosomal Recessive, Formerly|Ter Haar Syndrome	Sh3pxd2b	MGI:2442062	SH3PXD2B	Both
601596	Charcot-Marie-Tooth Disease, Type 4c; CMT4C	Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4C|Charcot-Marie-Tooth Neuropathy, Type 4C	Sh3tc2	MGI:2444417	SH3TC2	Both
142945	Holoprosencephaly 3; HPE3	HLP3	Shh	MGI:98297	SHH	Both
248800	Marinesco-Sjogren Syndrome; MSS		Sil1	MGI:1932040	SIL1	Both
601665	Obesity		Sim1	MGI:98306	SIM1	Both
157170	Holoprosencephaly 2; HPE2		Six3	MGI:102764	SIX3	Both
601678	Bartter Syndrome, Antenatal, Type 1	Hyperprostaglandin E Syndrome 1|Hypokalemic Alkalosis with Hypercalciuria, Antenatal, 1	Slc12a1	MGI:103150	SLC12A1	Both
263800	Gitelman Syndrome	Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria|Potassium and Magnesium Depletion	Slc12a3	MGI:108114	SLC12A3	Both
218000	Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN	Andermann Syndrome|Charlevoix Disease|Corpus Callosum, Agenesis of, with Neuronopathy|Polyneuropathy, Sensorimotor, with or without Agenesis of the Corpus Callosum	Slc12a6	MGI:2135960	SLC12A6	Both
300523	Allan-Herndon-Dudley Syndrome; AHDS	Allan-Herndon Syndrome|Mental Retardation and Muscular Atrophy|Mental Retardation, X-Linked, with Hypotonia|Monocarboxylate Transporter 8 Deficiency|T3 Resistance|Triiodothyronine Resistance	Slc16a2	MGI:1203732	SLC16A2	Both
269920	Infantile Sialic Acid Storage Disorder	ISSD|N-Acetylneuraminic Acid Storage Disease|Nana Storage Disease; NSD|Sialuria, Infantile Form	Slc17a5	MGI:1924105	SLC17A5	Both
604369	Sialuria, Finnish Type	Salla Disease; SD	Slc17a5	MGI:1924105	SLC17A5	Both
605583	Deafness, Autosomal Dominant 25; DFNA25		Slc17a8	MGI:3039629	SLC17A8	Both
249270	Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA	Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness|Rogers Syndrome|Thiamine-Responsive Anemia Syndrome|Thiamine-Responsive Myelodysplasia	Slc19a2	MGI:1928761	SLC19A2	Both
212140	Carnitine Deficiency, Systemic Primary; CDSP	Carnitine Deficiency, Primary|Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine|Carnitine Transporter, Plasma-Membrane, Deficiency of|Carnitine Uptake Defect; CUD|Systemic Carnitine Deficiency; SCD	Slc22a5	MGI:1329012	SLC22A5	Both
605814	Citrullinemia, Type II, Neonatal-Onset	Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency; NICCD	Slc25a13	MGI:1354721	SLC25A13	Both
607196	Microcephaly, Amish Type; MCPHA	Amish Lethal Microcephaly	Slc25a19	MGI:1914533	SLC25A19	Both
222600	Diastrophic Dysplasia	DTD	Slc26a2	MGI:892977	SLC26A2	Both
274600	Pendred Syndrome; PDS	Deafness with Goiter|Goiter-Deafness Syndrome|Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2B|Thyroid Dyshormonogenesis 2B; TDH2B|Thyroid Hormonogenesis, Genetic Defect In, 2B	Slc26a4	MGI:1346029	SLC26A4	Both
600791	Enlarged Vestibular Aqueduct; EVA	Deafness, Autosomal Recessive 4; DFNB4|Dilated Vestibular Aqueduct; DVA|Neurosensory Nonsyndromic Recessive Deafness 4; NSRD4	Slc26a4	MGI:1346029	SLC26A4	Both
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Slc2a4	MGI:95758	SLC2A4	Both
241530	Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH	Hypercalciuric Rickets	Slc34a3	MGI:2159410	SLC34A3	Both
266265	Congenital Disorder of Glycosylation, Type IIC; CDG2C	Cdg IIC; CDGIIC|Leukocyte Adhesion Deficiency, Type II; LAD2|Rambam-Hasharon Syndrome; RHS	Slc35c1	MGI:2443301	SLC35C1	Both
269250	Schneckenbecken Dysplasia	Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis	Slc35d1	MGI:2140361	SLC35D1	Both
232220	Glycogen Storage Disease IB	Glucose-6-Phosphate Transport Defect|GSD1B	Slc37a4	MGI:1316650	SLC37A4	Both
612350	Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds	Slc39a13	MGI:1915677	SLC39A13	Both
220100	Cystinuria	Csnu|Cystinuria, Type I, Formerly; CSNU1, FORMERLY|Cystinuria, Type II, Formerly|Cystinuria, Type III, Formerly; CSNU3, FORMERLY	Slc3a1	MGI:1195264	SLC3A1	Both
606069	Hemochromatosis, Type 4; HFE4	Hemochromatosis Due to Defect in Ferroportin|Hemochromatosis, Autosomal Dominant	Slc40a1	MGI:1315204	SLC40A1	Both
606574	Albinism, Oculocutaneous, Type IV; OCA4	Oculocutaneous Albinism, Type IV	Slc45a2	MGI:2153040	SLC45A2	Both
602722	Renal Tubular Acidosis, Distal, Autosomal Recessive; RTADR	RTA, Distal, Autosomal Recessive	Slc4a1	MGI:109393	SLC4A1	Both
612653	Spherocytosis, Type 4; SPH4	Spherocytosis, Hereditary, 4; HS4	Slc4a1	MGI:109393	SLC4A1	Both
234500	Hartnup Disorder	Hartnup Disease|HND	Slc6a19	MGI:1921588	SLC6A19	Both
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Slc6a3	MGI:94862	SLC6A3	Both
149400	Hyperekplexia, Hereditary	Exaggerated Startle Reaction|Hyperexplexia, Hereditary|Kok Disease|Startle Disease, Familial|Startle Reaction, Exaggerated|STHE|Stiff-Baby Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Person Syndrome, Congenital	Slc6a5	MGI:105090	SLC6A5	Both
300352	Creatine Deficiency Syndrome, X-Linked	Creatine Transporter Defect|Mental Retardation, X-Linked, with Creatine Transport Deficiency|Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia	Slc6a8	MGI:2147834	SLC6A8	Both
220100	Cystinuria	Csnu|Cystinuria, Type I, Formerly; CSNU1, FORMERLY|Cystinuria, Type II, Formerly|Cystinuria, Type III, Formerly; CSNU3, FORMERLY	Slc7a9	MGI:1353656	SLC7A9	Both
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS	Slitrk1	MGI:2679446	SLITRK1	Both
174900	Juvenile Polyposis Syndrome; JPS	Juvenile Intestinal Polyposis; JIP|Polyposis, Juvenile Intestinal; PJI	Smad4	MGI:894293	SMAD4	Both
178600	Pulmonary Hypertension, Primary, 1; PPH1	PHT	Smad9	MGI:1859993	SMAD9	Both
609322	Rhabdoid Tumor Predisposition Syndrome 1; RTPS1		Smarcb1	MGI:1328366	SMARCB1	Both
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Smn1	MGI:109257	SMN1	Both
253400	Spinal Muscular Atrophy, Type III; SMA3	Kugelberg-Welander Syndrome; KWS|Muscular Atrophy, Juvenile|SMA III|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form	Smn1	MGI:109257	SMN1	Both
257200	Niemann-Pick Disease, Type A	Sphingomyelin Lipidosis	Smpd1	MGI:98325	SMPD1	Both
607616	Niemann-Pick Disease, Type B		Smpd1	MGI:98325	SMPD1	Both
608890	Waardenburg Syndrome, Type 2D; WS2D	Waardenburg Syndrome, Type IID	Snai2	MGI:1096393	SNAI2	Both
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Snca	MGI:1277151	SNCA	Both
176270	Prader-Willi Syndrome; PWS		Snrpn	MGI:98347	SNRPN	Both
104300	Alzheimer Disease; AD		Sorl1	MGI:1202296	SORL1	Both
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Sos1	MGI:98354	SOS1	Both
607823	Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS		Sox18	MGI:103559	SOX18	Both
114290	Campomelic Dysplasia	Cmd1; CMPD1|CMPD	Sox9	MGI:98371	SOX9	Both
182601	Spastic Paraplegia 4, Autosomal Dominant; SPG4	Familial Spastic Paraplegia, Autosomal Dominant, 2; FSP2	Spast	MGI:1858896	SPAST	Both
607259	Spastic Paraplegia 7, Autosomal Recessive; SPG7		Spg7	MGI:2385906	SPG7	Both
256500	Netherton Syndrome; NETH	Netherton Disease|NS	Spink5	MGI:1919682	SPINK5	Both
270970	Spherocytosis, Type 3; SPH3	Spherocytosis, Hereditary, 3; HS3	Spna1	MGI:98385	SPTA1	Both
182870	Spectrin, Beta, Erythrocytic; SPTB		Spnb1	MGI:98387	SPTB	Both
600224	Spinocerebellar Ataxia 5; SCA5		Spnb3	MGI:1313261	SPTBN2	Both
612716	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	Sepiapterin Reductase Deficiency|Spr Deficiency	Spr	MGI:103078	SPR	Both
611431	Legius Syndrome	Neurofibromatosis Type 1-Like Syndrome; NFLS	Spred1	MGI:2150016	SPRED1	Both
602080	Paget Disease of Bone; PDB		Sqstm1	MGI:107931	SQSTM1	Both
201710	Lipoid Congenital Adrenal Hyperplasia	Adrenal Hyperplasia I|Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism	Star	MGI:102760	STAR	Both
175200	Peutz-Jeghers Syndrome; PJS	Polyposis, Hamartomatous Intestinal|Polyps-And-Spots Syndrome	Stk11	MGI:1341870	STK11	Both
603720	Deafness, Autosomal Recessive 16; DFNB16		Strc	MGI:2153816	STRC	Both
155255	Medulloblastoma; MDB		Sufu	MGI:1345643	SUFU	Both
272200	Multiple Sulfatase Deficiency; MSD	Mucosulfatidosis|Sulfatidosis, Juvenile, Austin Type	Sumf1	MGI:1889844	SUMF1	Both
256000	Leigh Syndrome; LS		Surf1	MGI:98443	SURF1	Both
270960	Spermatogenic Failure 4; SPGF4	Azoospermia Due to Perturbations of Meiosis|Azoospermia with Maturation Arrest|Spermatogenesis Arrest Pregnancy Loss, Recurrent, Susceptibility to, 4; RPRGL4	Sycp3	MGI:109542	SYCP3	Both
612998	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant; EDMD4	Emery-Dreifuss Muscular Dystrophy 4 with Variable Features	Syne1	MGI:1927152	SYNE1	Both
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tbx1	MGI:98493	TBX1	Both
192430	Velocardiofacial Syndrome	Chromosome 22q11.2 Deletion Syndrome|Shprintzen Vcf Syndrome|VCF Syndrome; VCFS	Tbx1	MGI:98493	TBX1	Both
201400	Acth Deficiency, Isolated; IAD	Adrenocorticotropic Hormone Deficiency	Tbx19	MGI:1891158	TBX19	Both
303400	Cleft Palate, X-Linked; CPX		Tbx22	MGI:2389465	TBX22	Both
181450	Ulnar-Mammary Syndrome; UMS	Pallister Ulnar-Mammary Syndrome|Schinzel Syndrome	Tbx3	MGI:98495	TBX3	Both
142900	Holt-Oram Syndrome; HOS	Atriodigital Dysplasia|Heart-Hand Syndrome|HOS1	Tbx5	MGI:102541	TBX5	Both
601954	Muscular Dystrophy, Limb-Girdle, Type 2G; LGMD2G		Tcap	MGI:1330233	TCAP	Both
259700	Osteopetrosis, Autosomal Recessive 1; OPTB1	Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|Osteopetrosis, Infantile Malignant 1	Tcirg1	MGI:1350931	TCIRG1	Both
154500	Treacher Collins Syndrome 1; TCS1	Mandibulofacial Dysostosis; MFD1|Treacher Collins Syndrome; TCS|Treacher Collins-Franceschetti Syndrome; TCOF	Tcof1	MGI:892003	TCOF1	Both
607250	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy;	SCAN1	Tdp1	MGI:1920036	TDP1	Both
601543	Deafness, Autosomal Dominant 12; DFNA12	Deafness, Autosomal Dominant 8; DFNA8	Tecta	MGI:109575	TECTA	Both
127550	Dyskeratosis Congenita, Autosomal Dominant, 1; DKCA1	Dyskeratosis Congenita, Scoggins Type	Terc	MGI:109558	TERC	Both
169100	Char Syndrome	Char|Patent Ductus Arteriosus with Facial Dysmorphism and Abnormal Fifth Digits	Tfap2b	MGI:104672	TFAP2B	Both
274700	Thyroid Dyshormonogenesis 3; TDH3	Hypothyroidism, Congenital, Due to Dyshormonogenesis, 3|Thyroid Hormonogenesis, Genetic Defect In, 3	Tg	MGI:98733	TG	Both
242300	Ichthyosis, Lamellar, 1; LI1	Collodion Fetus|Desquamation of Newborn|Ichthyosis Congenita|Lamellar Exfoliation of Newborn|Lamellar Ichthyosis, Type 1|Lamellar Ichthyosis; LI	Tgm1	MGI:98730	TGM1	Both
188040	Thrombomodulin; THBD	Thrm	Thbd	MGI:98736	THBD	Both
188570	Thyroid Hormone Resistance, Generalized, Autosomal Dominant; GRTH	Gthr|Hyperthyroxinemia, Familial Euthyroid, Secondary to Pituitary and Peripheral Resistance to Thyroid Hormones|Thyroid Hormone Unresponsiveness	Thrb	MGI:98743	THRB	Both
274300	Thyroid Hormone Resistance, Generalized, Autosomal Recessive; GRTH	Gthr|Refetoff Syndrome|Thyroid Hormone Unresponsiveness	Thrb	MGI:98743	THRB	Both
136900	Fundus Dystrophy, Pseudoinflammatory, of Sorsby; SFD	Macular Dystrophy, Hemorrhagic	Timp3	MGI:98754	TIMP3	Both
609560	Mitochondrial DNA Depletion Syndrome 2 (myopathic Type); MTDPS2	Mitochondrial DNA Depletion Myopathy, Tk2-Related	Tk2	MGI:1913266	TK2	Both
603030	Toll-Like Receptor 4; TLR4		Tlr4	MGI:96824	TLR4	Both
600974	Deafness, Autosomal Recessive 7; DFNB7	Deafness, Autosomal Recessive 11; DFNB11	Tmc1	MGI:2151016	TMC1	Both
606705	Deafness, Autosomal Dominant 36; DFNA36		Tmc1	MGI:2151016	TMC1	Both
142680	Periodic Fever, Familial, Autosomal Dominant	Familial Hibernian Fever|FPF|Hibernian Fever, Familial; FHF|TNF Receptor-Associated Periodic Syndrome|Tumor Necrosis Factor Receptor-Associated Periodic Syndrome; TRAPS	Tnfrsf1a	MGI:1314884	TNFRSF1A	Both
601494	Cardiomyopathy, Dilated, 1D; CMD1D		Tnnt2	MGI:104597	TNNT2	Both
606408	Ehlers-Danlos-Like Syndrome Due to Tenascin-X Deficiency	EDS Due to TNX Deficiency|TNX Deficiency	Tnxb	MGI:1932137	TNXB	Both
611451	Deafness, Autosomal Recessive 63; DFNB63		Tomt	MGI:3769724	LRTOMT	Both
128100	Dystonia 1, Torsion, Autosomal Dominant; DYT1	Dystonia Musculorum Deformans 1|Early-Onset Torsion Dystonia; EOTD	Tor1a	MGI:1353568	TOR1A	Both
610460	Thiopurine S-Methyltransferase Deficiency	Thiopurines, Poor Metabolism of|Tpmt Deficiency	Tpmt	MGI:98812	TPMT	Both
204500	Ceroid Lipofuscinosis, Neuronal, 2; CLN2	Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset	Tpp1	MGI:1336194	TPP1	Both
225750	Aicardi-Goutieres Syndrome 1; AGS1	Ags|Blcpmg|Cree Encephalitis|Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis|Pseudo-TORCH Syndrome	Trex1	MGI:1328317	TREX1	Both
209300	Atransferrinemia		Trf	MGI:98821	TF	Both
604250	Hemochromatosis, Type 3; HFE3	Hemochromatosis Due to Defect in Transferrin Receptor 2	Trfr2	MGI:1354956	TFR2	Both
188545	Thyrotropin-Releasing Hormone Receptor; TRHR		Trhr	MGI:98824	TRHR	Both
254110	Muscular Dystrophy, Limb-Girdle, Type 2H; LGMD2H	Muscular Dystrophy, Hutterite Type|Sarcotubular Myopathy	Trim32	MGI:1917057	TRIM32	Both
200600	Achondrogenesis, Type IA; ACG1A	Achondrogenesis, Houston-Harris Type	Trip11	MGI:1924393	TRIP11	Both
114480	Breast Cancer		Trp53	MGI:98834	TP53	Both
151623	Li-Fraumeni Syndrome 1; LFS1	Sarcoma Family Syndrome of Li and Fraumeni	Trp53	MGI:98834	TP53	Both
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Trp53	MGI:98834	TP53	Both
604292	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3; EEC3	EEC Syndrome 3	Trp63	MGI:1330810	TP63	Both
190350	Trichorhinophalangeal Syndrome, Type I; TRPS1	TRPS I	Trps1	MGI:1927616	TRPS1	Both
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Tsc1	MGI:1929183	TSC1	Both
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Tsc2	MGI:102548	TSC2	Both
209900	Bardet-Biedl Syndrome; BBS		Ttc8	MGI:1923510	TTC8	Both
600334	Tibial Muscular Dystrophy, Tardive	Tardive Tibial Muscular Dystrophy|TMD|UDD Myopathy	Ttn	MGI:98864	TTN	Both
604145	Cardiomyopathy, Dilated, 1G; CMD1G		Ttn	MGI:98864	TTN	Both
608807	Muscular Dystrophy, Limb-Girdle, Type 2J; LGMD2J		Ttn	MGI:98864	TTN	Both
277460	Vitamin E, Familial Isolated Deficiency Of; VED	Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; AVED|Friedreich-Like Ataxia	Ttpa	MGI:1354168	TTPA	Both
600638	Fibrosis of Extraocular Muscles, Congenital, 3a, with or without Extraocular Involvement; CFEOM3A	Feom3 Locus	Tubb3	MGI:107813	TUBB3	Both
600132	Retinitis Pigmentosa 14; RP14	Retinitis Pigmentosa, Juvenile, Tulp1-Related	Tulp1	MGI:109571	TULP1	Both
101400	Saethre-Chotzen Syndrome; SCS	Acrocephalosyndactyly, Type III; ACS3|ACS III|Chotzen Syndrome	Twist1	MGI:98872	TWIST1	Both
221770	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy;	Brain-Bone-Fat Disease|Dementia, Prefrontal, with Bone Cysts|Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia|Nasu-Hakola Disease; NHD|Plosl|Presenile Dementia with Bone Cysts	Tyrobp	MGI:1277211	TYROBP	Both
105830	Angelman Syndrome; AS		Ube3a	MGI:105098	UBE3A	Both
243800	Johanson-Blizzard Syndrome; JBS	Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness	Ubr1	MGI:1277977	UBR1	Both
162000	Hyperuricemic Nephropathy, Familial Juvenile, 1; HNFJ1	Familial Juvenile Hyperuricemic Nephropathy; FJHN|Gouty Nephropathy, Familial Juvenile|Hyperuricemic Nephropathy, Familial Juvenile; HNFJ|Nephropathy, Familial, with Gout	Umod	MGI:102674	UMOD	Both
176100	Porphyria Cutanea Tarda	PCT|PCT, 'Familial' Type|Pct, Type II|Porphyria Cutanea Tarda, Type II|Porphyria, Hepatocutaneous Type|Uroporphyrinogen Decarboxylase Deficiency	Urod	MGI:98916	UROD	Both
263700	Porphyria, Congenital Erythropoietic	CEP|Gunther Disease|Uroporphyrinogen III Synthase, Deficiency of|Uros Deficiency	Uros	MGI:98917	UROS	Both
276904	Usher Syndrome, Type Ic; USH1C	Usher Syndrome, Type I, Acadian Variety	Ush1c	MGI:1919338	USH1C	Both
602092	Deafness, Autosomal Recessive 18; DFNB18		Ush1c	MGI:1919338	USH1C	Both
276901	Usher Syndrome, Type IIA; USH2A		Ush2a	MGI:1341292	USH2A	Both
182940	Neural Tube Defects		Vangl1	MGI:2159344	VANGL1	Both
167320	Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia; IBMPFD	Lower Motor Neuron Degeneration with Paget-Like Bone Disease|Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone|Pagetoid Amyotrophic Lateral Sclerosis|Pagetoid Neuroskeletal Syndrome	Vcp	MGI:99919	VCP	Both
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Vdr	MGI:103076	VDR	Both
277440	Vitamin D-Dependent Rickets, Type 2A; VDDR2A	Generalized Resistance to 1,25-Dihydroxyvitamin D|Hypocalcemic Vitamin D-Resistant Rickets; HVDRR|Pddr IIA|Pseudovitamin D-Deficiency, Type IIA|Rickets, Hereditary Vitamin D-Resistant; HVDRR|Rickets-Alopecia Syndrome|Vitamin D-Dependent Rickets, Type 2a, with or without Alopecia|Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol	Vdr	MGI:103076	VDR	Both
193300	Von Hippel-Lindau Syndrome; VHL		Vhl	MGI:103223	VHL	Both
263400	Erythrocytosis, Familial, 2; ECYT2	Erythrocytosis, Autosomal Recessive Benign|Polycythemia, Chuvash Type|Polycythemia, Vhl-Dependent	Vhl	MGI:103223	VHL	Both
200150	Choreoacanthocytosis; CHAC	Acanthocytosis with Neurologic Disorder|Chorea-Acanthocytosis|Levine-Critchley Syndrome|Neuroacanthocytosis	Vps13a	MGI:2444304	VPS13A	Both
193400	Von Willebrand Disease, Type 1; VWD1	Von Willebrand Disease, Type I|Vwd, Type 1	Vwf	MGI:98941	VWF	Both
301000	Wiskott-Aldrich Syndrome; WAS	Aldrich Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndrome|Immunodeficiency 2; IMD2	Was	MGI:105059	WAS	Both
222300	Wolfram Syndrome 1; WFS1	Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness; DIDMOAD|WFS	Wfs1	MGI:1328355	WFS1	Both
607084	Deafness, Autosomal Recessive 31; DFNB31	Whirler, Mouse, Homolog of	Whrn	MGI:2682003	DFNB31	Both
611383	Usher Syndrome, Type Iid; USH2D		Whrn	MGI:2682003	DFNB31	Both
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Whsc1	MGI:1276574	WHSC1	Both
145260	Pseudohypoaldosteronism, Type II; PHA2	Hyperpotassemia and Hypertension, Familial|Hypertensive Hyperkalemia, Familial	Wnk4	MGI:1917097	WNK4	Both
277700	Werner Syndrome; WRN		Wrn	MGI:109635	WRN	Both
194080	Denys-Drash Syndrome; DDS	Drash Syndrome|Nephropathy, Wilms Tumor, and Genital Anomalies|Wilms Tumor and Pseudo- or True Hermaphroditism	Wt1	MGI:98968	WT1	Both
278700	Xeroderma Pigmentosum, Complementation Group A; XPA	Xeroderma Pigmentosum I; XP1|XP, Group A	Xpa	MGI:99135	XPA	Both
278720	Xeroderma Pigmentosum, Complementation Group C; XPC	Xeroderma Pigmentosum III; XP3|XP, Group C|XPCC	Xpc	MGI:103557	XPC	Both
247200	Miller-Dieker Lissencephaly Syndrome; MDLS		Ywhae	MGI:894689	YWHAE	Both
609141	Corneal Dystrophy, Posterior Polymorphous, 3; PPCD3		Zeb1	MGI:1344313	ZEB1	Both
235730	Mowat-Wilson Syndrome	Hirschsprung Disease-Mental Retardation Syndrome|Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung Disease	Zeb2	MGI:1344407	ZEB2	Both
187500	Tetralogy of Fallot; TOF		Zfpm2	MGI:1334444	ZFPM2	Both
609637	Holoprosencephaly 5; HPE5		Zic2	MGI:106679	ZIC2	Both
306955	Heterotaxy, Visceral, 1, X-Linked; HTX1	Dextrocardia with Other Cardiac Malformations|Laterality, X-Linked	Zic3	MGI:106676	ZIC3	Both
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	2010002N04Rik	MGI:1917088	C5orf62	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	a	MGI:87853	ASIP	Mouse only
601665	Obesity		a	MGI:87853	ASIP	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	a	MGI:87853	ASIP	Mouse only
305800	Membranoproliferative Glomerulonephritis, X-Linked	Mesangiocapillary Glomerulonephritis, X-Linked	Abca1	MGI:99607	ABCA1	Mouse only
257220	Niemann-Pick Disease, Type C1; NPC1	Niemann-Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Subacute Juvenile Form|Niemann-Pick Disease, Type C; NPC	Abcb1a	MGI:97570	ABCB1	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Abcb4	MGI:97569	ABCB4	Mouse only
104300	Alzheimer Disease; AD		Abcc1	MGI:102676	ABCC1	Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Abcc1	MGI:102676	ABCC1	Mouse only
177000	Protoporphyria, Erythropoietic; EPP	Erythrohepatic Protoporphyria|Ferrochelatase Deficiency|Heme Synthetase Deficiency	Abcg2	MGI:1347061	ABCG2	Mouse only
100800	Achondroplasia; ACH		Acan	MGI:99602	ACAN	Mouse only
115650	Cataract, Anterior Polar, 1; CTAA1	Cataract, Anterior Polar; CAP	Acc	MGI:87872		Mouse only
604219	Cataract, Autosomal Dominant		Acc	MGI:87872		Mouse only
601539	Peroxisome Biogenesis Disorders; PBD		Acox1	MGI:1330812	ACOX1	Mouse only
601853	Cerebellotrigeminal Dermal Dysplasia	Cerebello-Trigeminal-Dermal Dysplasia|Glh Syndrome|Gomez-Lopez-Hernandez Syndrome	Acp2	MGI:87882	ACP2	Mouse only
261800	Pierre Robin Syndrome	Glossoptosis, Micrognathia, and Cleft Palate|Pierre Robin Sequence	Acvr2a	MGI:102806	ACVR2A	Mouse only
208530	Asplenia with Cardiovascular Anomalies		Acvr2b	MGI:87912	ACVR2B	Mouse only
613751	Heterotaxy, Visceral, 4, Autosomal; HTX4		Acvr2b	MGI:87912	ACVR2B	Mouse only
176620	Priapism, Familial Idiopathic		Ada	MGI:87916	ADA	Mouse only
143400	Multicystic Renal Dysplasia, Bilateral; MCRD	Hydronephrosis Due to Pujo|Mrd|Pelviureteric Junction Obstruction; PUJO	Adamts1	MGI:109249	ADAMTS1	Mouse only
236600	Hydrocephalus	Hydrocephaly|Ventriculomegaly	Add1	MGI:87918	ADD1	Mouse only
182900	Spherocytosis, Type 1; SPH1	Sph; HS|Spherocytosis, Hereditary, 1; HS1	Add2	MGI:87919	ADD2	Mouse only
168600	Parkinson Disease, Late-Onset; PD	Park	Adh7	MGI:87926	ADH7	Mouse only
228100	Visceral Steatosis, Congenital	Fatty Liver Disease, Congenital|Fatty Metamorphosis of Viscera|Steatosis of Liver|White Liver Disease	Adk	MGI:87930	ADK	Mouse only
236750	Hydrops Fetalis, Nonimmune; NIHF		Adm	MGI:108058	ADM	Mouse only
160700	Myopia 2, Autosomal Dominant; MYP2		Adora2a	MGI:99402	ADORA2A	Mouse only
601665	Obesity		Adrb1	MGI:87937	ADRB1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ager	MGI:893592	AGER	Mouse only
141900	Hemoglobin--Beta Locus; HBB		Ahsp	MGI:2158492	AHSP	Mouse only
610967	Osteogenesis Imperfecta, Type V	Oi, Type V|Oi5	AI848100	MGI:2138346	C1orf9	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Aire	MGI:1338803	AIRE	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Aldh1a2	MGI:107928	ALDH1A2	Mouse only
604219	Cataract, Autosomal Dominant		Alm	MGI:87996		Mouse only
601665	Obesity		Alms1	MGI:1934606	ALMS1	Mouse only
614307	Alpha-Methylacyl-Coa Racemase Deficiency; AMACRD	Amacr Deficiency	Amacr	MGI:1098273	AMACR	Mouse only
104530	Amelogenesis Imperfecta, Hypoplastic Type		Ambn	MGI:104655	AMBN	Mouse only
167000	Ovarian Cancer		Amhr2	MGI:105062	AMHR2	Mouse only
601665	Obesity		Angptl6	MGI:1917976	ANGPTL6	Mouse only
601665	Obesity		Ankrd26	MGI:1917887	ANKRD26	Mouse only
185050	Storage Pool Platelet Disease		Ap3b1	MGI:1333879	AP3B1	Mouse only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Ap3b1	MGI:1333879	AP3B1	Mouse only
185050	Storage Pool Platelet Disease		Ap3d1	MGI:107734	AP3D1	Mouse only
608233	Hermansky-Pudlak Syndrome 2; HPS2		Ap3d1	MGI:107734	AP3D1	Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Apaf1	MGI:1306796	APAF1	Mouse only
114480	Breast Cancer		Apc	MGI:88039	APC	Mouse only
210900	Bloom Syndrome; BLM	BS; BLS	Apc	MGI:88039	APC	Mouse only
268400	Rothmund-Thomson Syndrome; RTS	Poikiloderma Atrophicans and Cataract	Apc	MGI:88039	APC	Mouse only
609310	Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2	COCA2|Colon Cancer, Familial Nonpolyposis, Type 2; FCC2	Apc	MGI:88039	APC	Mouse only
115650	Cataract, Anterior Polar, 1; CTAA1	Cataract, Anterior Polar; CAP	Apo	MGI:88048		Mouse only
604219	Cataract, Autosomal Dominant		Apo	MGI:88048		Mouse only
104300	Alzheimer Disease; AD		Apoa4	MGI:88051	APOA4	Mouse only
605019	Hypobetalipoproteinemia, Familial, 2; FHBL2	Hypolipidemia, Familial, Combined	Apob	MGI:88052	APOB	Mouse only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Apobec1	MGI:103298	APOBEC1	Mouse only
115650	Cataract, Anterior Polar, 1; CTAA1	Cataract, Anterior Polar; CAP	Apoca	MGI:2152879		Mouse only
604219	Cataract, Autosomal Dominant		Apoca	MGI:2152879		Mouse only
104300	Alzheimer Disease; AD		Apoe	MGI:88057	APOE	Mouse only
144250	Hyperlipidemia, Familial Combined; FCHL	Familial Combined Hyperlipidemia	Apoe	MGI:88057	APOE	Mouse only
603030	Toll-Like Receptor 4; TLR4		Apoe	MGI:88057	APOE	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Apoe	MGI:88057	APOE	Mouse only
257220	Niemann-Pick Disease, Type C1; NPC1	Niemann-Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Subacute Juvenile Form|Niemann-Pick Disease, Type C; NPC	App	MGI:88059	APP	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Aqp3	MGI:1333777	AQP3	Mouse only
219050	Cryptorchidism, Unilateral or Bilateral	Cryptorchidism|Undescended Testis	Ar	MGI:88064	AR	Mouse only
601665	Obesity		Ar	MGI:88064	AR	Mouse only
309801	Microphthalmia, Syndromic 7; MCOPS7	Microphthalmia with Linear Skin Defects; MLS|Microphthalmia, Dermal Aplasia, and Sclerocornea|Midas Syndrome	Arhgap6	MGI:1196332	ARHGAP6	Mouse only
600995	Nephrotic Syndrome, Type 2; NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; SRN1	Arhgdia	MGI:2178103	ARHGDIA	Mouse only
601626	Leukemia, Acute Myeloid; AML		Arid4a	MGI:2444354	ARID4A	Mouse only
601626	Leukemia, Acute Myeloid; AML		Arid4b	MGI:2137512	ARID4B	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Arl3	MGI:1929699	ARL3	Mouse only
614286	Myelodysplastic Syndrome; MDS		Atg7	MGI:1921494	ATG7	Mouse only
108800	Atrial Septal Defect 1; ASD1		avc2	MGI:4821838		Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	avc3	MGI:4821841		Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	avc4	MGI:4821843		Mouse only
187500	Tetralogy of Fallot; TOF		avc6	MGI:4821845		Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	avc6	MGI:4821845		Mouse only
181500	Schizophrenia; SCZD		Avpr1a	MGI:1859216	AVPR1A	Mouse only
123100	Craniosynostosis, Type 1; CRS1	Craniosynostosis; CRS	Axin2	MGI:1270862	AXIN2	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	B2m	MGI:88127	B2M	Mouse only
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	B2m	MGI:88127	B2M	Mouse only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Baz1b	MGI:1353499	BAZ1B	Mouse only
601665	Obesity		Bbs1	MGI:1277215	BBS1	Mouse only
601665	Obesity		Bbs4	MGI:2143311	BBS4	Mouse only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Bcat2	MGI:1276534	BCAT2	Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Bcl2l1	MGI:88139	BCL2L1	Mouse only
123500	Crouzon Syndrome	Craniofacial Dysostosis, Type I; CFD1|Crouzon Craniofacial Dysostosis	Bey	MGI:1276118		Mouse only
143400	Multicystic Renal Dysplasia, Bilateral; MCRD	Hydronephrosis Due to Pujo|Mrd|Pelviureteric Junction Obstruction; PUJO	Bicc1	MGI:1933388	BICC1	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Bicc1	MGI:1933388	BICC1	Mouse only
114480	Breast Cancer		Bin1	MGI:108092	BIN1	Mouse only
300755	Agammaglobulinemia, X-Linked; XLA	Agammaglobulinemia, X-Linked, Type 1; AGMX1|Bruton-Type Agammaglobulinemia	Blnk	MGI:96878	BLNK	Mouse only
614077	Hermansky-Pudlak Syndrome 8; HPS8		Bloc1s3	MGI:2678952	BLOC1S3	Mouse only
602482	Axenfeld-Rieger Syndrome, Type 3; RIEG3	Anterior Chamber Cleavage Syndrome|Anterior Segment Mesenchymal Dysgenesis|Axenfeld-Rieger Anomaly with or without Cardiac Defects and/or Sensorineural Hearing Loss	Bmp4	MGI:88180	BMP4	Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	Bmp4	MGI:88180	BMP4	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Bmpr1a	MGI:1338938	BMPR1A	Mouse only
194200	Wolff-Parkinson-White Syndrome		Bmpr1a	MGI:1338938	BMPR1A	Mouse only
224700	Ebstein Anomaly		Bmpr1a	MGI:1338938	BMPR1A	Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Boc	MGI:2151153	BOC	Mouse only
607361	Meckel Syndrome, Type 3; MKS3	Meckel-Gruber Syndrome, Type 3	bpck	MGI:2183341		Mouse only
152700	Systemic Lupus Erythematosus; SLE		C1qa	MGI:88223	C1QA	Mouse only
152700	Systemic Lupus Erythematosus; SLE		C4b	MGI:88228	C4B	Mouse only
607628	Epilepsy, Idiopathic Generalized, Susceptibility to, 11; EIG11		Cacna2d2	MGI:1929813	CACNA2D2	Mouse only
209850	Autism		Cadps2	MGI:2443963	CADPS2	Mouse only
236750	Hydrops Fetalis, Nonimmune; NIHF		Calcrl	MGI:1926944	CALCRL	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Casp1	MGI:96544	CASP1	Mouse only
603165	Dermatitis, Atopic	ATOD	Casp8	MGI:1261423	CASP8	Mouse only
604219	Cataract, Autosomal Dominant		Cat2	MGI:88272		Mouse only
115650	Cataract, Anterior Polar, 1; CTAA1	Cataract, Anterior Polar; CAP	Cat4	MGI:88040		Mouse only
604219	Cataract, Autosomal Dominant		Cat4	MGI:88040		Mouse only
104300	Alzheimer Disease; AD		Cav1	MGI:102709	CAV1	Mouse only
114480	Breast Cancer		Cav1	MGI:102709	CAV1	Mouse only
603174	Homocysteinemia	Hyperhomocysteinemia	Cbs	MGI:88285	CBS	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Cby1	MGI:1920989	CBY1	Mouse only
119600	Cleidocranial Dysplasia; CCD		Ccd	MGI:88291		Mouse only
268000	Retinitis Pigmentosa; RP		Ccdc66	MGI:2443639	CCDC66	Mouse only
153800	Macular Degeneration, Age-Related, 2; ARMD2	Macular Degeneration, Senile|Maculopathy, Age-Related, 2	Ccl2	MGI:98259	CCL2	Mouse only
613784	Macular Degeneration, Age-Related, 12; ARMD12		Ccl2	MGI:98259	CCL2	Mouse only
268800	Sandhoff Disease	GM2-Gangliosidosis, Type II	Ccl3	MGI:98260	CCL3	Mouse only
116860	Cerebral Cavernous Malformations; CCM	Cavernous Angioma, Familial|Cavernous Angiomatous Malformations; CAM	Ccm2	MGI:2384924	CCM2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Ccr2	MGI:106185	CCR2	Mouse only
153800	Macular Degeneration, Age-Related, 2; ARMD2	Macular Degeneration, Senile|Maculopathy, Age-Related, 2	Ccr2	MGI:106185	CCR2	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Ccr7	MGI:103011	CCR7	Mouse only
604219	Cataract, Autosomal Dominant		Ccw	MGI:107542		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Cd19	MGI:88319	CD19	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Cd19	MGI:88319	CD19	Mouse only
109100	Autoimmune Disease		Cd200	MGI:1196990	CD200	Mouse only
178000	Pterygium of Conjunctiva and Cornea		Cd36	MGI:107899	CD36	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Cd38	MGI:107474	CD38	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Cd4	MGI:88335	CD4	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Cd4	MGI:88335	CD4	Mouse only
300818	Paroxysmal Nocturnal Hemoglobinuria; PNH		Cd59b	MGI:1888996	CD59	Mouse only
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	Cd74	MGI:96534	CD74	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Cd80	MGI:101775	CD80	Mouse only
139393	Guillain-Barre Syndrome, Familial; GBS		Cd86	MGI:101773	CD86	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Cd86	MGI:101773	CD86	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Cdk4	MGI:88357	CDK4	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Cdkn1a	MGI:104556	CDKN1A	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Cdkn1a	MGI:104556	CDKN1A	Mouse only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Cdkn1c	MGI:104564	CDKN1C	Mouse only
131445	Ependymoma		Cdkn2a	MGI:104738	CDKN2A	Mouse only
155720	Melanoma, Uveal		Cdkn2a	MGI:104738	CDKN2A	Mouse only
156240	Mesothelioma, Malignant; MESOM		Cdkn2a	MGI:104738	CDKN2A	Mouse only
176807	Prostate Cancer		Cdkn2a	MGI:104738	CDKN2A	Mouse only
257910	Oculopalatocerebral Syndrome	Oculopalatocerebral Dwarfism|Opc Dwarfism	Cdkn2a	MGI:104738	CDKN2A	Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Cdkn2a	MGI:104738	CDKN2A	Mouse only
268210	Rhabdomyosarcoma 1; RMS1	Rhabdomyosarcoma Chromosomal Region; RMSCR|Rhabdomyosarcoma, Embryonal, 1; RMSE1	Cdkn2a	MGI:104738	CDKN2A	Mouse only
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Cdkn2a	MGI:104738	CDKN2A	Mouse only
607174	Meningioma, Familial		Cdkn2a	MGI:104738	CDKN2A	Mouse only
155255	Medulloblastoma; MDB		Cdkn2c	MGI:105388	CDKN2C	Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Cdon	MGI:1926387	CDON	Mouse only
206500	Anencephaly		Cecr2	MGI:1923799	CECR2	Mouse only
208530	Asplenia with Cardiovascular Anomalies		Cfc1	MGI:109448	CFC1	Mouse only
608808	Transposition of the Great Arteries, Dextro-Looped 1; DTGA1	D-TGA	Cfc1	MGI:109448	CFC1	Mouse only
602541	Muscular Dystrophy, Congenital, Megaconial Type; MDCMC	Muscular Dystrophy, Congenital, with Mitochondrial Structural Abnormalities	Chkb	MGI:1328313	CHKB	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Chrd	MGI:1313268	CHRD	Mouse only
192430	Velocardiofacial Syndrome	Chromosome 22q11.2 Deletion Syndrome|Shprintzen Vcf Syndrome|VCF Syndrome; VCFS	Chrd	MGI:1313268	CHRD	Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Chrd	MGI:1313268	CHRD	Mouse only
249210	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Berdon Syndrome|MMIH Syndrome	Chrm3	MGI:88398	CHRM3	Mouse only
181500	Schizophrenia; SCZD		Chst3	MGI:1858224	CHST3	Mouse only
187500	Tetralogy of Fallot; TOF		Cited2	MGI:1306784	CITED2	Mouse only
181500	Schizophrenia; SCZD		ckr	MGI:88414		Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	cl	MGI:88415		Mouse only
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Clcn3	MGI:103555	CLCN3	Mouse only
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Clcn6	MGI:1347049	CLCN6	Mouse only
304800	Diabetes Insipidus, Nephrogenic, X-Linked	Diabetes Insipidus, Nephrogenic, Type I|Ndi	Clcnka	MGI:1329026	CLCNKA	Mouse only
614035	Deafness, Autosomal Recessive 29; DFNB29		Cldn14	MGI:1860425	CLDN14	Mouse only
181440	Scheuermann Disease	Scheuermann Juvenile Kyphosis|Spinal Osteochondrosis	Clec3b	MGI:104540	CLEC3B	Mouse only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Clip2	MGI:1313136	CLIP2	Mouse only
104300	Alzheimer Disease; AD		Clu	MGI:88423	CLU	Mouse only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Cm	MGI:88424		Mouse only
204100	Leber Congenital Amaurosis 2; LCA2	Amaurosis Congenita of Leber II	Cnga3	MGI:1341818	CNGA3	Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Cnr1	MGI:104615	CNR1	Mouse only
604219	Cataract, Autosomal Dominant		Coc	MGI:88442		Mouse only
156500	Metaphyseal Chondrodysplasia, Schmid Type; MCDS	Spondylometaphyseal Dysplasia, Japanese Type	Col10a1	MGI:88445	COL10A1	Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Col1a1	MGI:88467	COL1A1	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Col9a1	MGI:88465	COL9A1	Mouse only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Comt	MGI:88470	COMT	Mouse only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Coro1a	MGI:1345961	CORO1A	Mouse only
251900	Mitochondrial Myopathy		Cox10	MGI:1917633	COX10	Mouse only
601665	Obesity		Cpe	MGI:101932	CPE	Mouse only
181500	Schizophrenia; SCZD		Cplx2	MGI:104726	CPLX2	Mouse only
613835	Leber Congenital Amaurosis 8; LCA8		Crb1	MGI:2136343	CRB1	Mouse only
601626	Leukemia, Acute Myeloid; AML		Crebbp	MGI:1098280	CREBBP	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Crkl	MGI:104686	CRKL	Mouse only
192430	Velocardiofacial Syndrome	Chromosome 22q11.2 Deletion Syndrome|Shprintzen Vcf Syndrome|VCF Syndrome; VCFS	Crkl	MGI:104686	CRKL	Mouse only
613829	Leber Congenital Amaurosis 7; LCA7		Crx	MGI:1194883	CRX	Mouse only
605749	Cataract, Autosomal Recessive, Early-Onset, Pulverulent	CAAR	Cryaa	MGI:88515	CRYAA	Mouse only
604219	Cataract, Autosomal Dominant		Cryga	MGI:88521	CRYGA	Mouse only
116800	Cataract, Lamellar	Cataract, Zonular	Crygb	MGI:88522	CRYGB	Mouse only
604219	Cataract, Autosomal Dominant		Crygb	MGI:88522	CRYGB	Mouse only
604307	Cataract, Coppock-Like; CCL	Cataract, Embryonic Nuclear	Crygd	MGI:88524	CRYGD	Mouse only
604219	Cataract, Autosomal Dominant		Cryge	MGI:88525		Mouse only
604219	Cataract, Autosomal Dominant		Crygs	MGI:1298216	CRYGS	Mouse only
259700	Osteopetrosis, Autosomal Recessive 1; OPTB1	Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|Osteopetrosis, Infantile Malignant 1	Csf1	MGI:1339753	CSF1	Mouse only
265120	Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1	Interstitial Lung Disease Due to Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1	Csf1	MGI:1339753	CSF1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Csf2	MGI:1339752	CSF2	Mouse only
259700	Osteopetrosis, Autosomal Recessive 1; OPTB1	Albers-Schonberg Disease, Autosomal Recessive|Marble Bones, Autosomal Recessive|Osteopetrosis, Infantile Malignant 1	Csf2	MGI:1339752	CSF2	Mouse only
265120	Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1	Interstitial Lung Disease Due to Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1	Csf2	MGI:1339752	CSF2	Mouse only
242500	Ichthyosis Congenita, Harlequin Fetus Type	'Harlequin Fetus'|Harlequin Ichthyosis	Cst6	MGI:1920970	CST6	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Ctf1	MGI:105115	CTF1	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Ctf1	MGI:105115	CTF1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Ctnnb1	MGI:88276	CTNNB1	Mouse only
176807	Prostate Cancer		Ctnnb1	MGI:88276	CTNNB1	Mouse only
211980	Lung Cancer		Ctnnb1	MGI:88276	CTNNB1	Mouse only
181500	Schizophrenia; SCZD		Ctsc	MGI:109553	CTSC	Mouse only
601626	Leukemia, Acute Myeloid; AML		Ctsg	MGI:88563	CTSG	Mouse only
613784	Macular Degeneration, Age-Related, 12; ARMD12		Cx3cr1	MGI:1333815	CX3CR1	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Cyb5r4	MGI:2386848	CYB5R4	Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Cybb	MGI:88574	CYBB	Mouse only
164230	Obsessive-Compulsive Disorder; OCD		Cyp19a1	MGI:88587	CYP19A1	Mouse only
108800	Atrial Septal Defect 1; ASD1		Cyr61	MGI:88613	CYR61	Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	Cyr61	MGI:88613	CYR61	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Cys1	MGI:2177632	CYS1	Mouse only
613818	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 7; MDDGC7	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related	Dag1	MGI:101864	DAG1	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Dbf	MGI:94863		Mouse only
607432	Lissencephaly 1; LIS1	Lissencephaly Sequence, Isolated; ILS	Dcx	MGI:1277171	DCX	Mouse only
127100	Dwarfism, Levi Type	Snub-Nosed Type of Dwarfism	Ddr2	MGI:1345277	DDR2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Def6	MGI:1346328	DEF6	Mouse only
182290	Smith-Magenis Syndrome; SMS		Del(11Cops3-4933439F18Rik)2Jrl	MGI:3521942		Mouse only
182290	Smith-Magenis Syndrome; SMS		Del(11Cops3-Rnf112)1Jrl	MGI:3521936		Mouse only
187500	Tetralogy of Fallot; TOF		Del(11Mpo-Chad)18Brd	MGI:3653212		Mouse only
608808	Transposition of the Great Arteries, Dextro-Looped 1; DTGA1	D-TGA	Del(11Mpo-Chad)18Brd	MGI:3653212		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Del(14Trim13-Dleu2)4Rdf	MGI:4437007		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Del(14Trim13-Rnaseh2b)6Rdf	MGI:5305081		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Del(16Dgcr2-Hira)1Rak	MGI:3702641		Mouse only
192430	Velocardiofacial Syndrome	Chromosome 22q11.2 Deletion Syndrome|Shprintzen Vcf Syndrome|VCF Syndrome; VCFS	Del(16Dgcr2-Hira)1Rak	MGI:3702641		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Del(16Es2el-Ufd1l)217Bld	MGI:2677647		Mouse only
611867	Chromosome 22q11.2 Deletion Syndrome, Distal	Distal Chromosome 22q11.2 Deletion Syndrome	Del(16Es2el-Ufd1l)217Bld	MGI:2677647		Mouse only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Del(5D5Mit148-Qdpr)2Jcs	MGI:3798059		Mouse only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Del(5D5Mit388-D5Mit351)4Jcs	MGI:3798061		Mouse only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Del(5D5Mit73-D5Mit351)5Jcs	MGI:3798169		Mouse only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Del(5LetM1-D5Mit81)3Jcs	MGI:3798060		Mouse only
176270	Prader-Willi Syndrome; PWS		Del(7Herc2-Mkrn3)13FRdni	MGI:3769761		Mouse only
209850	Autism		Del(7Slx1b-Sept1)4Aam	MGI:5291501		Mouse only
606369	Epileptic Encephalopathy, Lennox-Gastaut Type	Encephalopathy of Childhood	Dgkd	MGI:2138334	DGKD	Mouse only
610297	Parkinson Disease 13, Autosomal Dominant; PARK13		Diablo	MGI:1913843	DIABLO	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Dicer1	MGI:2177178	DICER1	Mouse only
608516	Major Depressive Disorder; MDD		Disc1	MGI:2447658	DISC1	Mouse only
142945	Holoprosencephaly 3; HPE3	HLP3	Disp1	MGI:1916147	DISP1	Mouse only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Dlg4	MGI:1277959	DLG4	Mouse only
209850	Autism		Dlg4	MGI:1277959	DLG4	Mouse only
164230	Obsessive-Compulsive Disorder; OCD		Dlgap3	MGI:3039563	DLGAP3	Mouse only
183600	Split-Hand/Foot Malformation 1; SHFM1	Ectrodactyly; ECD|Split-Hand Deformity|Split-Hand/Foot Deformity 1; SHFD1; SHSF1	Dlx5	MGI:101926	DLX5	Mouse only
183600	Split-Hand/Foot Malformation 1; SHFM1	Ectrodactyly; ECD|Split-Hand Deformity|Split-Hand/Foot Deformity 1; SHFD1; SHSF1	Dlx6	MGI:101927	DLX6	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Dnahc5	MGI:107718	DNAH5	Mouse only
187500	Tetralogy of Fallot; TOF		Dnahc5	MGI:107718	DNAH5	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Dnase2a	MGI:1329019	DNASE2	Mouse only
600669	Epilepsy, Idiopathic Generalized; EIG		Dnm1	MGI:107384	DNM1	Mouse only
242860	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1; ICF1	Centromeric Instability, Immunodeficiency Syndrome; CIID|Immune Deficiency, Variable, with Centromeric Instability of Chromosomes 1, 9, and 16|Immunodeficiency Syndrome, Variable	Dnmt3a	MGI:1261827	DNMT3A	Mouse only
185050	Storage Pool Platelet Disease		Dock7	MGI:1914549	DOCK7	Mouse only
131440	Myeloproliferative Disorder, Chronic, with Eosinophilia	Eosinophils, Malignant Proliferation of|MPE; EMP	Dok1	MGI:893587	DOK1	Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Dok1	MGI:893587	DOK1	Mouse only
131440	Myeloproliferative Disorder, Chronic, with Eosinophilia	Eosinophils, Malignant Proliferation of|MPE; EMP	Dok2	MGI:1332623	DOK2	Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Dok2	MGI:1332623	DOK2	Mouse only
190685	Down Syndrome		Dp(10Prmt2-Pdxk)2Yey	MGI:4461397		Mouse only
610883	Potocki-Lupski Syndrome; PTLS	Chromosome 17p11.2 Duplication Syndrome	Dp(11Cops3-Rnf112)1Jrl	MGI:3577248		Mouse only
190685	Down Syndrome		Dp(16Cbr1-ORF9)1Rhr	MGI:3487250		Mouse only
167750	Pancreas, Annular		Dp(16Lipi-Zfp295)1Yey	MGI:3714521		Mouse only
187500	Tetralogy of Fallot; TOF		Dp(16Lipi-Zfp295)1Yey	MGI:3714521		Mouse only
190685	Down Syndrome		Dp(16Lipi-Zfp295)1Yey	MGI:3714521		Mouse only
190685	Down Syndrome		Dp(17Abcg1-Rrp1b)3Yey	MGI:4461398		Mouse only
122000	Corneal Dystrophy, Posterior Polymorphous, 1; PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior|Posterior Polymorphous Corneal Dystrophy; PPCD	Dp(2Csrp2bp-6330439K17Rik)1Bra	MGI:4830884		Mouse only
608636	Chromosome 15q11-Q13 Duplication Syndrome		Dp(7Herc2-Mkrn3)1Taku	MGI:4359727		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Drd1a	MGI:99578	DRD1	Mouse only
169610	Pemphigus Vulgaris, Familial		Dsg3	MGI:99499	DSG3	Mouse only
256500	Netherton Syndrome; NETH	Netherton Disease|NS	Dsg4	MGI:2661061	DSG4	Mouse only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Dtna	MGI:106039	DTNA	Mouse only
185050	Storage Pool Platelet Disease		Dtnbp1	MGI:2137586	DTNBP1	Mouse only
614076	Hermansky-Pudlak Syndrome 7; HPS7		Dtnbp1	MGI:2137586	DTNBP1	Mouse only
608808	Transposition of the Great Arteries, Dextro-Looped 1; DTGA1	D-TGA	Dvl2	MGI:106613	DVL2	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	E2f1	MGI:101941	E2F1	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	E2f1	MGI:101941	E2F1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	E2f4	MGI:103012	E2F4	Mouse only
600084	Macrocytosis, Familial		E2f4	MGI:103012	E2F4	Mouse only
236600	Hydrocephalus	Hydrocephaly|Ventriculomegaly	E2f5	MGI:105091	E2F5	Mouse only
217095	Conotruncal Heart Malformations; CTHM		Ece1	MGI:1101357	ECE1	Mouse only
217095	Conotruncal Heart Malformations; CTHM		Ece2	MGI:1101356	ECE2	Mouse only
192430	Velocardiofacial Syndrome	Chromosome 22q11.2 Deletion Syndrome|Shprintzen Vcf Syndrome|VCF Syndrome; VCFS	Ednra	MGI:105923	EDNRA	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Ednrb	MGI:102720	EDNRB	Mouse only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM	Ednrb	MGI:102720	EDNRB	Mouse only
114480	Breast Cancer		Eef1a1	MGI:1096881	EEF1A1	Mouse only
206500	Anencephaly		Efna5	MGI:107444	EFNA5	Mouse only
109730	Aortic Valve Disease	Aortic Stenosis, Calcific|Aortic Valve, Bicuspid|Aortic Valve, Calcification of|Bicuspid Aortic Valve; BAV	Egfr	MGI:95294	EGFR	Mouse only
261515	D-Bifunctional Protein Deficiency	17-beta-Hydroxysteroid Dehydrogenase IV Deficiency|DBP Deficiency|PBFE Deficiency|Peroxisomal Bifunctional Enzyme Deficiency	Ehhadh	MGI:1277964	EHHADH	Mouse only
603523	Chylothorax, Congenital	Hydrothorax, Congenital	Elk3	MGI:101762	ELK3	Mouse only
145500	Hypertension, Essential	EHT	Eln	MGI:95317	ELN	Mouse only
603285	Cerebral Cavernous Malformations 3; CCM3		Emx1	MGI:95387	EMX1	Mouse only
209850	Autism		En2	MGI:95390	EN2	Mouse only
604219	Cataract, Autosomal Dominant		Enc	MGI:95391		Mouse only
106300	Spondyloarthropathy, Susceptibility to, 1; SPDA1	Ankylosing Spondylitis, Susceptibility to|Bechterew Syndrome|Marie-Strumpell Spondylitis	Enpp1	MGI:97370	ENPP1	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Enpp1	MGI:97370	ENPP1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Ep300	MGI:1276116	EP300	Mouse only
267450	Respiratory Distress Syndrome in Premature Infants	Hyaline Membrane Disease, Formerly|Rds of Prematurity	Epas1	MGI:109169	EPAS1	Mouse only
182900	Spherocytosis, Type 1; SPH1	Sph; HS|Spherocytosis, Hereditary, 1; HS1	Epb4.2	MGI:95402	EPB42	Mouse only
114480	Breast Cancer		Erbb2	MGI:95410	ERBB2	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Erbb2	MGI:95410	ERBB2	Mouse only
610965	Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome	Ercc1	MGI:95412	ERCC1	Mouse only
278700	Xeroderma Pigmentosum, Complementation Group A; XPA	Xeroderma Pigmentosum I; XP1|XP, Group A	Ercc2	MGI:95413	ERCC2	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Errfi1	MGI:1921405	ERRFI1	Mouse only
608089	Endometrial Cancer		Errfi1	MGI:1921405	ERRFI1	Mouse only
114480	Breast Cancer		Etv4	MGI:99423	ETV4	Mouse only
604229	Peters Anomaly		Ext1	MGI:894663	EXT1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Eya4	MGI:1337104	EYA4	Mouse only
233300	Ovarian Dysgenesis 1; ODG1	Gonadal Dysgenesis, XX Type|Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive|Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype|Ovarian Failure, Hypergonadotropic|XX Gonadal Dysgenesis; XXGD	Fancl	MGI:1914280	FANCL	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Fas	MGI:95484	FAS	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Fas	MGI:95484	FAS	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Fas	MGI:95484	FAS	Mouse only
607903	Hypotrichosis 6; HYPT6	HTL|Hypotrichosis, Localized, Autosomal Recessive 1; LAH1|Hypotrichosis, Localized, Autosomal Recessive; LAH	Fas	MGI:95484	FAS	Mouse only
601859	Autoimmune Lymphoproliferative Syndrome; ALPS	Canale-Smith Syndrome	Fasl	MGI:99255	FASLG	Mouse only
130700	Emphysema, Hereditary Pulmonary		Fbn1	MGI:95489	FBN1	Mouse only
181750	Scleroderma, Familial Progressive		Fbn1	MGI:95489	FBN1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Fbxo11	MGI:2147134	FBXO11	Mouse only
268800	Sandhoff Disease	GM2-Gangliosidosis, Type II	Fcer1g	MGI:95496	FCER1G	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Fem1b	MGI:1335087	FEM1B	Mouse only
243150	Intestinal Atresia, Multiple	Familial Intestinal Polyatresia Syndrome; FIPA	Fgf10	MGI:1099809	FGF10	Mouse only
307800	Hypophosphatemic Rickets, X-Linked Dominant; XLHR	HYP|Hypophosphatemia, X-Linked; XLH|Hypophosphatemic Vitamin D-Resistant Rickets; HPDR|Vitamin D-Resistant Rickets, X-Linked	Fgf23	MGI:1891427	FGF23	Mouse only
187500	Tetralogy of Fallot; TOF		Fgf8	MGI:99604	FGF8	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Fgf8	MGI:99604	FGF8	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Fgfr1	MGI:95522	FGFR1	Mouse only
243150	Intestinal Atresia, Multiple	Familial Intestinal Polyatresia Syndrome; FIPA	Fgfr2	MGI:95523	FGFR2	Mouse only
211980	Lung Cancer		Fgfr3	MGI:95524	FGFR3	Mouse only
114480	Breast Cancer		Fgfr4	MGI:95525	FGFR4	Mouse only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS	Fgfrl1	MGI:2150920	FGFRL1	Mouse only
202400	Afibrinogenemia, Congenital		Fgg	MGI:95526	FGG	Mouse only
158320	Muir-Torre Syndrome; MRTES	Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas	Fhit	MGI:1277947	FHIT	Mouse only
300183	Left Ventricular Noncompaction, X-Linked; LVNCX	Left Ventricular Noncompaction, Isolated, X-Linked; INVM	Fkbp1a	MGI:95541	FKBP1A	Mouse only
300068	Androgen Insensitivity Syndrome; AIS	Androgen Receptor Deficiency|AR Deficiency|DHTR Deficiency|Dihydrotestosterone Receptor Deficiency|Testicular Feminization Syndrome; TFM	Fkbp4	MGI:95543	FKBP4	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Fkbp8	MGI:1341070	FKBP8	Mouse only
181750	Scleroderma, Familial Progressive		Fli1	MGI:95554	FLI1	Mouse only
600080	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	CML-Like Syndrome, Familial	Flt3	MGI:95559	FLT3	Mouse only
130000	Ehlers-Danlos Syndrome, Type I	Eds I; EDS1|Ehlers-Danlos Syndrome, Gravis Type|Ehlers-Danlos Syndrome, Severe Classic Type	Fmod	MGI:1328364	FMOD	Mouse only
231300	Glaucoma 3, Primary Congenital, A; GLC3A	Glaucoma, Congenital; GLC3	Foxc1	MGI:1347466	FOXC1	Mouse only
218700	Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2	Athyreotic Hypothyroidism|Hypothyroidism, Athyreotic|Hypothyroidism, Congenital, Due to Thyroid Dysgenesis|Resistance to Thyrotropin; RTSH|Thyroid Agenesis|Thyroid Dysgenesis|Thyroid Hypoplasia|Thyroid, Ectopic|Thyrotropin Resistance	Foxe1	MGI:1353500	FOXE1	Mouse only
604229	Peters Anomaly		Foxe3	MGI:1353569	FOXE3	Mouse only
107250	Anterior Segment Mesenchymal Dysgenesis; ASMD	Anterior Segment Ocular Dysgenesis; ASOD	Foxf2	MGI:1347479	FOXF2	Mouse only
157170	Holoprosencephaly 2; HPE2		Foxg1	MGI:1347464	FOXG1	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Foxg1	MGI:1347464	FOXG1	Mouse only
301040	Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX	Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type|ATR, Nondeletion Type|ATR-X Syndrome	Foxg1	MGI:1347464	FOXG1	Mouse only
274600	Pendred Syndrome; PDS	Deafness with Goiter|Goiter-Deafness Syndrome|Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2B|Thyroid Dyshormonogenesis 2B; TDH2B|Thyroid Hormonogenesis, Genetic Defect In, 2B	Foxi1	MGI:1096329	FOXI1	Mouse only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Foxk1	MGI:1347488	FOXK1	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Foxm1	MGI:1347487	FOXM1	Mouse only
211980	Lung Cancer		Foxm1	MGI:1347487	FOXM1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Foxo1	MGI:1890077	FOXO1	Mouse only
166950	Teratoma, Ovarian	Dermoid Cyst, Ovarian	Foxo3	MGI:1890081	FOXO3	Mouse only
301000	Wiskott-Aldrich Syndrome; WAS	Aldrich Syndrome|Eczema-Thrombocytopenia-Immunodeficiency Syndrome|Immunodeficiency 2; IMD2	Foxp3	MGI:1891436	FOXP3	Mouse only
308200	Ichthyosis and Male Hypogonadism		Foxp3	MGI:1891436	FOXP3	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Fras1	MGI:2385368	FRAS1	Mouse only
158170	Chromosome 9p Deletion Syndrome	Monosomy 9p Syndrome	Frem1	MGI:2670972	FREM1	Mouse only
219000	Fraser Syndrome		Frem1	MGI:2670972	FREM1	Mouse only
275210	Restrictive Dermopathy, Lethal	Fetal Hypokinesia Sequence Due to Restrictive Dermopathy|Hyperkeratosis-Contracture Syndrome|Tight Skin Contracture Syndrome, Lethal	Fst	MGI:95586	FST	Mouse only
130700	Emphysema, Hereditary Pulmonary		Fut8	MGI:1858901	FUT8	Mouse only
305390	Exudative Vitreoretinopathy 2, X-Linked; EVR2	EVRX|Exudative Vitreoretinopathy, Familial, 2|FEVR, X-Linked; FEVRX	Fzd4	MGI:108520	FZD4	Mouse only
310600	Norrie Disease; ND	Atrophia Bulborum Hereditaria|Episkopi Blindness	Fzd4	MGI:108520	FZD4	Mouse only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Fzd9	MGI:1313278	FZD9	Mouse only
209850	Autism		Gabrb3	MGI:95621	GABRB3	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Gad2	MGI:95634	GAD2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Gadd45a	MGI:107799	GADD45A	Mouse only
211980	Lung Cancer		Gadd45a	MGI:107799	GADD45A	Mouse only
159595	Myeloproliferative Syndrome, Transient	Leukemia, Transient|MST|Transient Abnormal Myelopoiesis; TAM	Gata1	MGI:95661	GATA1	Mouse only
313900	Thrombocytopenia 1; THC1	THC|Thrombocytopenia, X-Linked; XLT	Gata1	MGI:95661	GATA1	Mouse only
601820	Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2	Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia|Hyperinsulinemic Hypoglycemia, Persistent|Hyperinsulinism, Congenital|Hyperinsulinism, Familial|Hyperinsulinism, Neonatal|Nesidioblastosis|Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI	Gck	MGI:1270854	GCK	Mouse only
146200	Hypoparathyroidism, Familial Isolated; FIH	Hypocalcemia, Autosomal Dominant|Hypocalcemia, Familial|Hypoparathyroidism, Autosomal Dominant	Gcm2	MGI:1861438	GCM2	Mouse only
167750	Pancreas, Annular		Gdf1	MGI:95683	GDF1	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Gdf5	MGI:95688	GDF5	Mouse only
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Gfap	MGI:95697	GFAP	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Gfra1	MGI:1100842	GFRA1	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Gfra2	MGI:1195462	GFRA2	Mouse only
262400	Isolated Growth Hormone Deficiency, Type IA; IGHD1A	Growth Hormone Deficiency, Isolated, Autosomal Recessive|Ighd IA|Illig-Type Growth Hormone Deficiency|Pituitary Dwarfism I|Primordial Dwarfism|Sexual Ateleiotic Dwarfism	Ghrh	MGI:95709	GHRH	Mouse only
187500	Tetralogy of Fallot; TOF		Gja5	MGI:95716	GJA5	Mouse only
270600	Spastic Diplegia, Infantile Type		Glb1	MGI:88151	GLB1	Mouse only
600775	Lambdoid Synostosis	Craniosynostosis, Lambdoidal	Gli3	MGI:95729	GLI3	Mouse only
612241	Inflammatory Bowel Disease 12; IBD12		Gnai2	MGI:95772	GNAI2	Mouse only
613856	Achromatopsia 4; ACHM4		Gnat2	MGI:95779	GNAT2	Mouse only
256600	Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A	Inad|Neuroaxonal Dystrophy, Infantile; INAD1|Neurodegeneration, Pla2g6-Associated; PLAN|Seitelberger Disease	gnd	MGI:95786		Mouse only
227200	Eunuchoidism, Familial Hypogonadotropic	Gonadotropin Deficiency, Familial Idiopathic; FIGD	Gnrh1	MGI:95789	GNRH1	Mouse only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Gnrhr	MGI:95790	GNRHR	Mouse only
102530	Spermatogenic Failure 6; SPGF6	Acrosome Malformation of Spermatozoa|Globozoospermia|Round-Headed Spermatozoa|Spermatozoa, Round-Headed	Gopc	MGI:2149946	GOPC	Mouse only
605814	Citrullinemia, Type II, Neonatal-Onset	Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency; NICCD	Gpd2	MGI:99778	GPD2	Mouse only
600510	Glaucoma-Related Pigment Dispersion Syndrome; GPDS1	Glaucoma, Pigment-Dispersion Type|Pigment Dispersion Syndrome; PDS	Gpnmb	MGI:1934765	GPNMB	Mouse only
601665	Obesity		Gpr12	MGI:101909	GPR12	Mouse only
109100	Autoimmune Disease		Gpr132	MGI:1890220	GPR132	Mouse only
148700	Keratosis Palmoplantaris Striata I; PPKS1	Keratoderma, Palmoplantar, Striate Form I; KPPS1|Striate Palmoplantar Keratoderma I; SPPK1	Grhl1	MGI:2182540	GRHL1	Mouse only
600628	Loose Anagen Hair Syndrome		Grhl1	MGI:2182540	GRHL1	Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Grin1	MGI:95819	GRIN1	Mouse only
181500	Schizophrenia; SCZD		Grin1	MGI:95819	GRIN1	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Grip1	MGI:1921303	GRIP1	Mouse only
219000	Fraser Syndrome		Grip1	MGI:1921303	GRIP1	Mouse only
226600	Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB	Dystrophic Epidermolysis Bullosa, Autosomal Recessive	Grip1	MGI:1921303	GRIP1	Mouse only
209850	Autism		Gstm1	MGI:95860	GSTM1	Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Gt(ROSA)26Sor	MGI:104735		Mouse only
114480	Breast Cancer		Gt(ROSA)26Sor	MGI:104735		Mouse only
125310	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy; CADASIL	CASIL|Dementia, Hereditary Multi-Infarct Type	Gt(ROSA)26Sor	MGI:104735		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Gt(ROSA)26Sor	MGI:104735		Mouse only
155255	Medulloblastoma; MDB		Gt(ROSA)26Sor	MGI:104735		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Gt(ROSA)26Sor	MGI:104735		Mouse only
173900	Polycystic Kidney Disease 1; PKD1		Gt(ROSA)26Sor	MGI:104735		Mouse only
181750	Scleroderma, Familial Progressive		Gt(ROSA)26Sor	MGI:104735		Mouse only
244400	Ciliary Dyskinesia, Primary, 1; CILD1	Ciliary Dyskinesia, Primary, 1, with or without Situs Inversus|Immotile Cilia Syndrome; ICS|Pcd	Gt(ROSA)26Sor	MGI:104735		Mouse only
302060	Barth Syndrome; BTHS	3-methylglutaconic Aciduria, Type II; MGCA2|Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria|Mga, Type II; MGA2	Gt(ROSA)26Sor	MGI:104735		Mouse only
605462	Basal Cell Carcinoma, Susceptibility to, 1; BCC1		Gt(ROSA)26Sor	MGI:104735		Mouse only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Gt(ROSA)26Sor	MGI:104735		Mouse only
300813	Sarcoma, Synovial		Gt(ROSA)26Sor	MGI:104735		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Gtf2ird1	MGI:1861942	GTF2IRD1	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Gucy2c	MGI:106903	GUCY2C	Mouse only
204000	Leber Congenital Amaurosis 1; LCA1	Amaurosis Congenita of Leber I|LCA|Retinal Blindness, Congenital; CRB	Gucy2f	MGI:105119	GUCY2F	Mouse only
307800	Hypophosphatemic Rickets, X-Linked Dominant; XLHR	HYP|Hypophosphatemia, X-Linked; XLH|Hypophosphatemic Vitamin D-Resistant Rickets; HPDR|Vitamin D-Resistant Rickets, X-Linked	Gy	MGI:2180716		Mouse only
312870	Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1	Bulldog Syndrome|Dysplasia Gigantism Syndrome, X-Linked; DGSX|Golabi-Rosen Syndrome|SGBS|Simpson Dysmorphia Syndrome; SDYS	H19	MGI:95891	H19	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	H2	MGI:95894		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	H2	MGI:95894		Mouse only
183900	Spondyloepiphyseal Dysplasia Congenita; SEDC	SED Congenita|Spondyloepiphyseal Dysplasia, Congenital Type	Hapln1	MGI:1337006	HAPLN1	Mouse only
141800	Hemoglobin--Alpha Locus 1; HBA1	3-Prime Alpha-Globin Gene	Hba	MGI:96014		Mouse only
176620	Priapism, Familial Idiopathic		Hba	MGI:96014		Mouse only
236750	Hydrops Fetalis, Nonimmune; NIHF		Hba	MGI:96014		Mouse only
603903	Sickle Cell Anemia		Hba	MGI:96014		Mouse only
604131	Alpha-Thalassemia		Hba	MGI:96014		Mouse only
141800	Hemoglobin--Alpha Locus 1; HBA1	3-Prime Alpha-Globin Gene	Hba-a1	MGI:96015	HBA2	Mouse only
141900	Hemoglobin--Beta Locus; HBB		Hba-a1	MGI:96015	HBA2	Mouse only
141800	Hemoglobin--Alpha Locus 1; HBA1	3-Prime Alpha-Globin Gene	Hba-x	MGI:96019	HBZ	Mouse only
176620	Priapism, Familial Idiopathic		Hbb	MGI:96020	HBB	Mouse only
141900	Hemoglobin--Beta Locus; HBB		Hbb-ar	MGI:102559		Mouse only
613985	Beta-Thalassemia		Hbb-ar	MGI:102559		Mouse only
141900	Hemoglobin--Beta Locus; HBB		Hbb-b1	MGI:96021		Mouse only
141900	Hemoglobin--Beta Locus; HBB		Hbb-b2	MGI:96022		Mouse only
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	Heph	MGI:1332240	HEPH	Mouse only
604290	Aceruloplasminemia		Heph	MGI:1332240	HEPH	Mouse only
262600	Pituitary Hormone Deficiency, Combined, 2; CPHD2	Ateliotic Dwarfism with Hypogonadism|Hanhart Dwarfism|Panhypopituitarism|Pituitary Dwarfism III	Hesx1	MGI:96071	HESX1	Mouse only
253220	Mucopolysaccharidosis Type VII	Beta-Glucuronidase Deficiency|Gusb Deficiency|MPS VII; MPS7|Sly Syndrome	Hexa	MGI:96073	HEXA	Mouse only
253220	Mucopolysaccharidosis Type VII	Beta-Glucuronidase Deficiency|Gusb Deficiency|MPS VII; MPS7|Sly Syndrome	Hexb	MGI:96074	HEXB	Mouse only
187500	Tetralogy of Fallot; TOF		Hey2	MGI:1341884	HEY2	Mouse only
164210	Hemifacial Microsomia; HFM	Facioauriculovertebral Sequence|Fav Sequence|Goldenhar Syndrome|OAV Dysplasia|Oculoauriculovertebral Dysplasia|Oculoauriculovertebral Spectrum; OAVS	Hfm	MGI:105953		Mouse only
236600	Hydrocephalus	Hydrocephaly|Ventriculomegaly	hhy	MGI:3505572		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Hif1a	MGI:106918	HIF1A	Mouse only
232600	Glycogen Storage Disease V	Gsd V; GSD5|Mcardle Disease|Muscle Glycogen Phosphorylase Deficiency|Myophosphorylase Deficiency|PYGM Deficiency	Hif1a	MGI:106918	HIF1A	Mouse only
232800	Glycogen Storage Disease VII	Gsd VII; GSD7|Muscle Phosphofructokinase Deficiency|PFKM Deficiency|Tarui Disease	Hif1a	MGI:106918	HIF1A	Mouse only
601665	Obesity		Hlb228	MGI:2678724		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Hmga1	MGI:96160	HMGA1	Mouse only
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	Hmox1	MGI:96163	HMOX1	Mouse only
245590	Growth Hormone Insensitivity with Immunodeficiency	Growth Hormone Insensitivity Due to Postreceptor Defect|Laron Syndrome Due to Postreceptor Defect	Hnf1a	MGI:98504	HNF1A	Mouse only
261600	Phenylketonuria; PKU	Oligophrenia Phenylpyruvica|PAH Deficiency|Phenylalanine Hydroxylase Deficiency	Hnf1a	MGI:98504	HNF1A	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Hoxa3	MGI:96175	HOXA3	Mouse only
613229	Trichotillomania; TTM		Hoxb8	MGI:96189	HOXB8	Mouse only
605432	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		Hoxd	MGI:96200	HOXD@	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Hpgd	MGI:108085	HPGD	Mouse only
179010	Pyloric Stenosis, Infantile Hypertrophic 1; IHPS1	Pyloric Stenosis, Infantile|Pyloric Stenosis, Infantile Hypertrophic; IHPS	hph1	MGI:96214		Mouse only
261600	Phenylketonuria; PKU	Oligophrenia Phenylpyruvica|PAH Deficiency|Phenylalanine Hydroxylase Deficiency	hph1	MGI:96214		Mouse only
222400	Diaphragmatic Hernia 2; DIH2		hpld	MGI:3576010		Mouse only
261800	Pierre Robin Syndrome	Glossoptosis, Micrognathia, and Cleft Palate|Pierre Robin Sequence	hpmd	MGI:3576012		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Hprt	MGI:96217	HPRT1	Mouse only
600110	Stargardt Disease 3; STGD3	Macular Dystrophy with Flecks, Type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant	Hprt	MGI:96217	HPRT1	Mouse only
185050	Storage Pool Platelet Disease		Hps1	MGI:2177763	HPS1	Mouse only
608233	Hermansky-Pudlak Syndrome 2; HPS2		Hps1	MGI:2177763	HPS1	Mouse only
185050	Storage Pool Platelet Disease		Hps3	MGI:2153839	HPS3	Mouse only
614072	Hermansky-Pudlak Syndrome 3; HPS3		Hps3	MGI:2153839	HPS3	Mouse only
185050	Storage Pool Platelet Disease		Hps4	MGI:2177742	HPS4	Mouse only
614073	Hermansky-Pudlak Syndrome 4; HPS4		Hps4	MGI:2177742	HPS4	Mouse only
185050	Storage Pool Platelet Disease		Hps5	MGI:2180307	HPS5	Mouse only
614074	Hermansky-Pudlak Syndrome 5; HPS5		Hps5	MGI:2180307	HPS5	Mouse only
185050	Storage Pool Platelet Disease		Hps6	MGI:2181763	HPS6	Mouse only
614075	Hermansky-Pudlak Syndrome 6; HPS6		Hps6	MGI:2181763	HPS6	Mouse only
105210	Amyloidosis, Hereditary, Transthyretin-Related	Hereditary Amyloidosis, Transthyretin-Related|Transthyretin Amyloidosis	Hsf1	MGI:96238	HSF1	Mouse only
187600	Thanatophoric Dysplasia, Type I; TD1	Platyspondylic Lethal Skeletal Dysplasia, San Diego Type|Thanatophoric Dwarfism|Thanatophoric Dysplasia; TD	Hspg2	MGI:96257	HSPG2	Mouse only
608808	Transposition of the Great Arteries, Dextro-Looped 1; DTGA1	D-TGA	Hspg2	MGI:96257	HSPG2	Mouse only
607834	Anxiety		Htr1a	MGI:96273	HTR1A	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Htr2c	MGI:96281	HTR2C	Mouse only
176270	Prader-Willi Syndrome; PWS		Htr2c	MGI:96281	HTR2C	Mouse only
236600	Hydrocephalus	Hydrocephaly|Ventriculomegaly	Hydin	MGI:2389007	HYDIN	Mouse only
604219	Cataract, Autosomal Dominant		Iac	MGI:96305		Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Id3	MGI:96398	ID3	Mouse only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Id4	MGI:99414	ID4	Mouse only
604219	Cataract, Autosomal Dominant		Idc	MGI:96399		Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Idua	MGI:96418	IDUA	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Ifnar1	MGI:107658	IFNAR1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ifng	MGI:107656	IFNG	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ifngr2	MGI:107654	IFNGR2	Mouse only
276950	Vacterl Association with Hydrocephalus		Ift172	MGI:2682064	IFT172	Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	Ift172	MGI:2682064	IFT172	Mouse only
263510	Short Rib-Polydactyly Syndrome, Type III	Polydactyly with Neonatal Chondrodystrophy, Type III|SRPS, TYPE III|Verma-Naumoff Syndrome	Ift80	MGI:1915509	IFT80	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Ift88	MGI:98715	IFT88	Mouse only
601489	Insulin-Like Growth Factor-Binding Protein, Acid-Labile Subunit; IGFALS	IGFBP, Soluble	Igf1	MGI:96432	IGF1	Mouse only
113970	Burkitt Lymphoma; BL		Igh	MGI:96442		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Igh	MGI:96442		Mouse only
254500	Myeloma, Multiple		Igh	MGI:96442		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Igh-J	MGI:96461		Mouse only
147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	Hies, Autosomal Dominant|Hyper-Ige Syndrome, Autosomal Dominant|Job Syndrome	Igh-J	MGI:96461		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Igh-J	MGI:96461		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Igha	MGI:96444		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ighm	MGI:96448	IGHM	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Igk	MGI:96494		Mouse only
147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	Hies, Autosomal Dominant|Hyper-Ige Syndrome, Autosomal Dominant|Job Syndrome	Igk-J	MGI:96497		Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Ihh	MGI:96533	IHH	Mouse only
167750	Pancreas, Annular		Ihh	MGI:96533	IHH	Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Ikzf1	MGI:1342540	IKZF1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Ikzf3	MGI:1342542	IKZF3	Mouse only
612381	Inflammatory Bowel Disease 23; IBD23		Il10	MGI:96537	IL10	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Il1r1	MGI:96545	IL1R1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Il3	MGI:96552	IL3	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Il4	MGI:96556	IL4	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Il4	MGI:96556	IL4	Mouse only
130700	Emphysema, Hereditary Pulmonary		Il4ra	MGI:105367	IL4R	Mouse only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Il4ra	MGI:105367	IL4R	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Il6st	MGI:96560	IL6ST	Mouse only
256600	Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A	Inad|Neuroaxonal Dystrophy, Infantile; INAD1|Neurodegeneration, Pla2g6-Associated; PLAN|Seitelberger Disease	inad	MGI:3577064		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ins1	MGI:96572		Mouse only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Ins1	MGI:96572		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ins2	MGI:96573	INS	Mouse only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Ins2	MGI:96573	INS	Mouse only
187500	Tetralogy of Fallot; TOF		Invs	MGI:1335082	INVS	Mouse only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Irak3	MGI:1921164	IRAK3	Mouse only
600080	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	CML-Like Syndrome, Familial	Irf8	MGI:96395	IRF8	Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Is(14)1Rdf	MGI:4437003		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Is(14)2Rdf	MGI:4437004		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Is(14)5Rdf	MGI:5305080		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Isl1	MGI:101791	ISL1	Mouse only
187800	Glanzmann Thrombasthenia, Autosomal Dominant	Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant	Itga2b	MGI:96601	ITGA2B	Mouse only
226700	Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Herlitz-Pearson-Type Epidermolysis Bullosa|Jeb-Herlitz Type	Itga6	MGI:96605	ITGA6	Mouse only
603523	Chylothorax, Congenital	Hydrothorax, Congenital	Itga9	MGI:104756	ITGA9	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Itgb1	MGI:96610	ITGB1	Mouse only
187800	Glanzmann Thrombasthenia, Autosomal Dominant	Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant	Itgb3	MGI:96612	ITGB3	Mouse only
130700	Emphysema, Hereditary Pulmonary		Itgb6	MGI:96615	ITGB6	Mouse only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Itgb6	MGI:96615	ITGB6	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Jag1	MGI:1095416	JAG1	Mouse only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Jak3	MGI:99928	JAK3	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Junb	MGI:96647	JUNB	Mouse only
113800	Epidermolytic Hyperkeratosis; EHK	Bullous Congenital Ichthyosiform Erythroderma; BCIE|Bullous Erythroderma Ichthyosiformis Congenita of Brocq|Bullous Ichthyosiform Erythroderma; BIE	Jup	MGI:96650	JUP	Mouse only
607872	Chromosome 1p36 Deletion Syndrome	Monosomy 1p36 Syndrome	Kcnab2	MGI:109239	KCNAB2	Mouse only
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Kcnq2	MGI:1309503	KCNQ2	Mouse only
601665	Obesity		Kdm3a	MGI:98847	KDM3A	Mouse only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Kiss1	MGI:2663985	KISS1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Kit	MGI:96677	KIT	Mouse only
130700	Emphysema, Hereditary Pulmonary		Kl	MGI:1101771	KL	Mouse only
104300	Alzheimer Disease; AD		Klc1	MGI:107978	KLC1	Mouse only
141900	Hemoglobin--Beta Locus; HBB		Klf1	MGI:1342771	KLF1	Mouse only
145701	Hypertrichosis Universalis Congenita, Ambras Type; HTC1	Ambras Syndrome	Koa	MGI:96678		Mouse only
131200	Endometriosis, Susceptibility to, 1	Endo1	Kras	MGI:96680	KRAS	Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Kras	MGI:96680	KRAS	Mouse only
167000	Ovarian Cancer		Kras	MGI:96680	KRAS	Mouse only
176807	Prostate Cancer		Kras	MGI:96680	KRAS	Mouse only
167210	Pachyonychia Congenita, Type 2; PC2	Pachyonychia Congenita, Jackson-Lawler Type	Krt6a	MGI:1100845	KRT6A	Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	l11Jus16	MGI:2671284		Mouse only
158900	Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A	Facioscapulohumeral Muscular Dystrophy; FMD|Muscular Dystrophy, Facioscapulohumeral, Type 1; FSHD1|Muscular Dystrophy, Facioscapulohumeral, Type 1A; FSHD1A	Large	MGI:1342270	LARGE	Mouse only
146700	Ichthyosis Vulgaris	Ichthyosis Simplex	Lbr	MGI:2138281	LBR	Mouse only
161200	Nail-Patella Syndrome; NPS	Fong Disease|NPS1|Onychoosteodysplasia|Turner-Kieser Syndrome	Ldb1	MGI:894762	LDB1	Mouse only
255300	Myopathy, Congenital	Batten-Turner Congenital Myopathy	Ldb3	MGI:1344412	LDB3	Mouse only
609160	Arrhythmogenic Right Ventricular Dysplasia, Familial, 7; ARVD7	Arrhythmogenic Right Ventricular Cardiomyopathy 7; ARVC7|Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myopathy, Desmin-Related, with Arrhythmogenic Right Ventricular Cardiomyopathy	Ldb3	MGI:1344412	LDB3	Mouse only
104300	Alzheimer Disease; AD		Ldlr	MGI:96765	LDLR	Mouse only
144250	Hyperlipidemia, Familial Combined; FCHL	Familial Combined Hyperlipidemia	Ldlr	MGI:96765	LDLR	Mouse only
613282	Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1		Ldlr	MGI:96765	LDLR	Mouse only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Lep	MGI:104663	LEP	Mouse only
601665	Obesity		Lep	MGI:104663	LEP	Mouse only
604367	Lipodystrophy, Familial Partial, Type 3; FPLD3	Lipodystrophy, Familial Partial, Associated with PPARG Mutations	Lep	MGI:104663	LEP	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Lepr	MGI:104993	LEPR	Mouse only
601665	Obesity		Lepr	MGI:104993	LEPR	Mouse only
106280	Ankyloglossia	'Tongue-Tie'	Lgr5	MGI:1341817	LGR5	Mouse only
155255	Medulloblastoma; MDB		Lig4	MGI:1335098	LIG4	Mouse only
604219	Cataract, Autosomal Dominant		Lim2	MGI:104698	LIM2	Mouse only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Limk1	MGI:104572	LIMK1	Mouse only
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	Lmo2	MGI:102811	LMO2	Mouse only
206500	Anencephaly		Lmo4	MGI:109360	LMO4	Mouse only
309400	Menkes Disease	Copper Transport Disease|Kinky Hair Disease|Menkes Syndrome|Mk; MNK|Steely Hair Disease	Lox	MGI:96817	LOX	Mouse only
104300	Alzheimer Disease; AD		Lrp1	MGI:96828	LRP1	Mouse only
305390	Exudative Vitreoretinopathy 2, X-Linked; EVR2	EVRX|Exudative Vitreoretinopathy, Familial, 2|FEVR, X-Linked; FEVRX	Lrp5	MGI:1278315	LRP5	Mouse only
601634	Neural Tube Defects, Folate-Sensitive		Lrp6	MGI:1298218	LRP6	Mouse only
181500	Schizophrenia; SCZD		Lrrtm1	MGI:2389173	LRRTM1	Mouse only
606963	Pulmonary Disease, Chronic Obstructive		Ltbp4	MGI:1321395	LTBP4	Mouse only
130000	Ehlers-Danlos Syndrome, Type I	Eds I; EDS1|Ehlers-Danlos Syndrome, Gravis Type|Ehlers-Danlos Syndrome, Severe Classic Type	Lum	MGI:109347	LUM	Mouse only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Ly6a	MGI:107527		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Lyn	MGI:96892	LYN	Mouse only
177650	Exfoliation Syndrome; XFS	Exfoliation Glaucoma; XFG|Pseudoexfoliation Glaucoma; PEXG|Pseudoexfoliation of the Lens|Pseudoexfoliation Syndrome; PEXS	Lyst	MGI:107448	LYST	Mouse only
185050	Storage Pool Platelet Disease		Lyst	MGI:107448	LYST	Mouse only
120100	Familial Cold Autoinflammatory Syndrome 1; FCAS1	Cold Hypersensitivity|Cold Urticaria, Familial; FCU|Cold-Induced Autoinflammatory Syndrome, Familial|Fcas	Lyz2	MGI:96897		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Lyz2	MGI:96897		Mouse only
191900	Muckle-Wells Syndrome; MWS	UDA Syndrome|Urticaria-Deafness-Amyloidosis Syndrome	Lyz2	MGI:96897		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Mafa	MGI:2673307	MAFA	Mouse only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Mafa	MGI:2673307	MAFA	Mouse only
176270	Prader-Willi Syndrome; PWS		Magel2	MGI:1351648	MAGEL2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Man2a1	MGI:104669	MAN2A1	Mouse only
224100	Anemia, Dyserythropoietic Congenital, Type II; CDAN2	CDA II|Dyserythropoietic Anemia, Congenital, Type II|Dyserythropoietic Anemia, Hempas Type|Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; HEMPAS	Man2a1	MGI:104669	MAN2A1	Mouse only
109720	Biliary Cirrhosis, Primary, 1; PBC1	Pbc	Map3k14	MGI:1858204	MAP3K14	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Map3k14	MGI:1858204	MAP3K14	Mouse only
209850	Autism		Mapk1	MGI:1346858	MAPK1	Mouse only
104300	Alzheimer Disease; AD		Mapt	MGI:97180	MAPT	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Matn3	MGI:1328350	MATN3	Mouse only
160900	Myotonic Dystrophy 1; DM1	Dystrophia Myotonica 1|Dystrophia Myotonica; DM|Steinert Disease	Mbnl1	MGI:1928482	MBNL1	Mouse only
613282	Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1		Mc4r	MGI:99457	MC4R	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Mcm9	MGI:1918817	MCM9	Mouse only
246560	Split-Hand/Foot Malformation 3; SHFM3	Chromosome 10q24 Duplication Syndrome|Limb Deficiencies, Distal, with Micrognathia|Shsf3	Mdac	MGI:96947		Mouse only
181500	Schizophrenia; SCZD		Mdk	MGI:96949	MDK	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Mecom	MGI:95457	MECOM	Mouse only
102200	Pituitary Adenoma, Growth Hormone-Secreting	Isolated Familial Somatotropinoma; IFS|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated; FIS	Men1	MGI:1316736	MEN1	Mouse only
188470	Thyroid Carcinoma, Follicular; FTC		Men1	MGI:1316736	MEN1	Mouse only
600634	Pituitary Adenoma, Prolactin-Secreting	Prolactinoma, Familial	Men1	MGI:1316736	MEN1	Mouse only
300183	Left Ventricular Noncompaction, X-Linked; LVNCX	Left Ventricular Noncompaction, Isolated, X-Linked; INVM	Mest	MGI:96968	MEST	Mouse only
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS	Met	MGI:96969	MET	Mouse only
136880	Fundus Albipunctatus		Mfrp	MGI:2385957	MFRP	Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Mfsd7b	MGI:2444881	FLVCR1	Mouse only
182250	Singleton-Merten Syndrome		Mgp	MGI:96976	MGP	Mouse only
309801	Microphthalmia, Syndromic 7; MCOPS7	Microphthalmia with Linear Skin Defects; MLS|Microphthalmia, Dermal Aplasia, and Sclerocornea|Midas Syndrome	Mid1	MGI:1100537	MID1	Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Mir15a	MGI:2676841		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Mir16-1	MGI:2676843		Mouse only
131300	Camurati-Engelmann Disease; CAEND	CED|Diaphyseal Dysplasia 1, Progressive; DPD1|Engelmann Disease|Progressive Diaphyseal Dysplasia; PDD	Mitf	MGI:104554	MITF	Mouse only
193500	Waardenburg Syndrome, Type 1; WS1	Waardenburg Syndrome with Dystopia Canthorum	Mitf	MGI:104554	MITF	Mouse only
601665	Obesity		Mkks	MGI:1891836	MKKS	Mouse only
601626	Leukemia, Acute Myeloid; AML		Mll1	MGI:96995	MLL	Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Mll1	MGI:96995	MLL	Mouse only
104300	Alzheimer Disease; AD		Mme	MGI:97004	MME	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Mmp14	MGI:101900	MMP14	Mouse only
259690	Osteopenia and Sparse Hair		Mmp14	MGI:101900	MMP14	Mouse only
203780	Alport Syndrome, Autosomal Recessive		Mmp9	MGI:97011	MMP9	Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Mog	MGI:97435	MOG	Mouse only
203780	Alport Syndrome, Autosomal Recessive		Mpv17	MGI:97138	MPV17	Mouse only
600995	Nephrotic Syndrome, Type 2; NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; SRN1	Mpv17	MGI:97138	MPV17	Mouse only
609136	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH	Waardenburg-Shah Syndrome, Neurologic Variant	Mpz	MGI:103177	MPZ	Mouse only
614072	Hermansky-Pudlak Syndrome 3; HPS3		Mreg	MGI:2151839	MREG	Mouse only
176807	Prostate Cancer		Msmb	MGI:97166	MSMB	Mouse only
104300	Alzheimer Disease; AD		Msr1	MGI:98257	MSR1	Mouse only
101400	Saethre-Chotzen Syndrome; SCS	Acrocephalosyndactyly, Type III; ACS3|ACS III|Chotzen Syndrome	Msx2	MGI:97169	MSX2	Mouse only
106600	Tooth Agenesis, Selective, 1; STHAG1	Hypodontia/Oligodontia 1; HYD1|Second Premolars and Third Molars, Absence of	Msx2	MGI:97169	MSX2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Mta2	MGI:1346340	MTA2	Mouse only
181500	Schizophrenia; SCZD		Mtap6	MGI:1201690	MAP6	Mouse only
603174	Homocysteinemia	Hyperhomocysteinemia	Mthfr	MGI:106639	MTHFR	Mouse only
603174	Homocysteinemia	Hyperhomocysteinemia	Mtrr	MGI:1891037	MTRR	Mouse only
154700	Marfan Syndrome; MFS	Marfan Syndrome, Type I; MFS1	Mus81	MGI:1918961	MUS81	Mouse only
208050	Arterial Tortuosity Syndrome; ATS	Arterial Tortuosity	Mus81	MGI:1918961	MUS81	Mouse only
185050	Storage Pool Platelet Disease		Muted	MGI:2178598	MUTED	Mouse only
187950	Thrombocythemia, Essential	Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary	Myb	MGI:97249	MYB	Mouse only
254450	Myelofibrosis		Myb	MGI:97249	MYB	Mouse only
300813	Sarcoma, Synovial		Myf5	MGI:97252	MYF5	Mouse only
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Myf6	MGI:97253	MYF6	Mouse only
251900	Mitochondrial Myopathy		Myl1	MGI:97269	MYL1	Mouse only
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Myl2	MGI:97272	MYL2	Mouse only
601493	Cardiomyopathy, Dilated, 1C; CMD1C		Myl2	MGI:97272	MYL2	Mouse only
256710	Elejalde Disease	Neuroectodermal Melanolysosomal Disease	Myo5a	MGI:105976	MYO5A	Mouse only
614072	Hermansky-Pudlak Syndrome 3; HPS3		Myo5a	MGI:105976	MYO5A	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Myocd	MGI:2137495	MYOCD	Mouse only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Myod1	MGI:97275	MYOD1	Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Myst4	MGI:1858746	KAT6B	Mouse only
256600	Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A	Inad|Neuroaxonal Dystrophy, Infantile; INAD1|Neurodegeneration, Pla2g6-Associated; PLAN|Seitelberger Disease	nad	MGI:4418710		Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Naglu	MGI:1351641	NAGLU	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Ncf1	MGI:97283	NCF1C	Mouse only
233700	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Cgd, Autosomal Recessive Cytochrome B-Positive, Type I|Granulomatous Disease, Chronic, Due to NCF1 Deficiency|Ncf1, Deficiency of|Neutrophil Cytosol Factor 1, Deficiency of|P47-Phox, Deficiency of|SOC2, Deficiency of|Soluble Oxidase Component II, Deficiency of	Ncf1	MGI:97283	NCF1C	Mouse only
601665	Obesity		Ncoa1	MGI:1276523	NCOA1	Mouse only
267450	Respiratory Distress Syndrome in Premature Infants	Hyaline Membrane Disease, Formerly|Rds of Prematurity	Ndst1	MGI:104719	NDST1	Mouse only
601665	Obesity		Neil1	MGI:1920024	NEIL1	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Neil1	MGI:1920024	NEIL1	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Nek1	MGI:97303	NEK1	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Nek8	MGI:1890646	NEK8	Mouse only
600321	Diabetes Mellitus, Insulin-Dependent, 7; IDDM7	Insulin-Dependent Diabetes Mellitus 7	Neurod1	MGI:1339708	NEUROD1	Mouse only
256700	Neuroblastoma, Susceptibility to		Nf1	MGI:97306	NF1	Mouse only
156240	Mesothelioma, Malignant; MESOM		Nf2	MGI:97307	NF2	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Nf2	MGI:97307	NF2	Mouse only
190685	Down Syndrome		Nfatc2	MGI:102463	NFATC2	Mouse only
190685	Down Syndrome		Nfatc3	MGI:103296	NFATC3	Mouse only
190685	Down Syndrome		Nfatc4	MGI:1920431	NFATC4	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Nfe2l1	MGI:99421	NFE2L1	Mouse only
166990	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension		Nfix	MGI:97311	NFIX	Mouse only
181440	Scheuermann Disease	Scheuermann Juvenile Kyphosis|Spinal Osteochondrosis	Nfix	MGI:97311	NFIX	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Nfkbia	MGI:104741	NFKBIA	Mouse only
603165	Dermatitis, Atopic	ATOD	Nfkbia	MGI:104741	NFKBIA	Mouse only
603165	Dermatitis, Atopic	ATOD	Nfkbiz	MGI:1931595	NFKBIZ	Mouse only
108800	Atrial Septal Defect 1; ASD1		Nkx2-5	MGI:97350	NKX2-5	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Nkx2-5	MGI:97350	NKX2-5	Mouse only
176807	Prostate Cancer		Nkx3-1	MGI:97352	NKX3-1	Mouse only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH	Nkx3-2	MGI:108015	NKX3-2	Mouse only
209850	Autism		Nlgn4l	MGI:3775191		Mouse only
601665	Obesity		Nmf15	MGI:2651833		Mouse only
603165	Dermatitis, Atopic	ATOD	Noa	MGI:1891009		Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Nodal	MGI:97359	NODAL	Mouse only
189960	Tracheoesophageal Fistula with or without Esophageal Atresia	Esophageal Atresia with or without Tracheoesophageal Fistula	Nog	MGI:104327	NOG	Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Nog	MGI:104327	NOG	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Nos1	MGI:97360	NOS1	Mouse only
200400	Achalasia, Familial Esophageal		Nos1	MGI:97360	NOS1	Mouse only
104300	Alzheimer Disease; AD		Nos2	MGI:97361	NOS2	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Nos2	MGI:97361	NOS2	Mouse only
109730	Aortic Valve Disease	Aortic Stenosis, Calcific|Aortic Valve, Bicuspid|Aortic Valve, Calcification of|Bicuspid Aortic Valve; BAV	Nos3	MGI:97362	NOS3	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Nos3	MGI:97362	NOS3	Mouse only
265380	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;	Acdmpv|Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies|Pulmonary Hypertension, Familial Persistent, of the Newborn	Nos3	MGI:97362	NOS3	Mouse only
118450	Alagille Syndrome 1; ALGS1	Alagille Syndrome; ALGS|Alagille-Watson Syndrome; AWS|Arteriohepatic Dysplasia; AHD|Cholestasis with Peripheral Pulmonary Stenosis|Hepatic Ductular Hypoplasia, Syndromatic	Notch2	MGI:97364	NOTCH2	Mouse only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Notch2	MGI:97364	NOTCH2	Mouse only
104300	Alzheimer Disease; AD		Npc1	MGI:1097712	NPC1	Mouse only
257220	Niemann-Pick Disease, Type C1; NPC1	Niemann-Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Subacute Juvenile Form|Niemann-Pick Disease, Type C; NPC	Npc2	MGI:1915213	NPC2	Mouse only
100800	Achondroplasia; ACH		Npr2	MGI:97372	NPR2	Mouse only
601665	Obesity		Npy1r	MGI:104963	NPY1R	Mouse only
257220	Niemann-Pick Disease, Type C1; NPC1	Niemann-Pick Disease with Cholesterol Esterification Block|Niemann-Pick Disease without Sphingomyelinase Deficiency|Niemann-Pick Disease, Chronic Neuronopathic Form|Niemann-Pick Disease, Subacute Juvenile Form|Niemann-Pick Disease, Type C; NPC	Nr1h2	MGI:1352463	NR1H2	Mouse only
608115	Ovarian Hyperstimulation Syndrome	OHSS|Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous	Nr1h3	MGI:1352462	NR1H3	Mouse only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH	Nr2f2	MGI:1352452	NR2F2	Mouse only
219080	Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH	Acth-Independent Cushing Syndrome|Acth-Independent Macronodular Adrenocortical Hyperplasia|Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia|Corticotropin-Independent Macronodular Adrenal Hyperplasia|Cushing Syndrome, Adrenal, Due to Aimah	Nr3c1	MGI:95824	NR3C1	Mouse only
601626	Leukemia, Acute Myeloid; AML		Nr4a1	MGI:1352454	NR4A1	Mouse only
181500	Schizophrenia; SCZD		Nr4a2	MGI:1352456	NR4A2	Mouse only
601626	Leukemia, Acute Myeloid; AML		Nr4a3	MGI:1352457	NR4A3	Mouse only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Nr5a1	MGI:1346833	NR5A1	Mouse only
209850	Autism		Nrcam	MGI:104750	NRCAM	Mouse only
181500	Schizophrenia; SCZD		Nrg1	MGI:96083	NRG1	Mouse only
209850	Autism		Nrp2	MGI:1100492	NRP2	Mouse only
302960	Chondrodysplasia Punctata 2, X-Linked Dominant; CDPX2	CDPXD; CPXD|Conradi-Hunermann Syndrome|Conradi-Hunermann-Happle Syndrome|Happle Syndrome	Nsdhl	MGI:1099438	NSDHL	Mouse only
108800	Atrial Septal Defect 1; ASD1		Ntf3	MGI:97380	NTF3	Mouse only
187500	Tetralogy of Fallot; TOF		Ntf3	MGI:97380	NTF3	Mouse only
116300	Cataract, Nuclear Diffuse Nonprogressive		Nuca	MGI:97387		Mouse only
604219	Cataract, Autosomal Dominant		Nuca	MGI:97387		Mouse only
155255	Medulloblastoma; MDB		Olig2	MGI:1355331	OLIG2	Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Olig2	MGI:1355331	OLIG2	Mouse only
236690	Hydrocephalus, Normal-Pressure		p23-ST1	MGI:4439296		Mouse only
182940	Neural Tube Defects		Pax1	MGI:97485	PAX1	Mouse only
107250	Anterior Segment Mesenchymal Dysgenesis; ASMD	Anterior Segment Ocular Dysgenesis; ASOD	Pax6	MGI:97490	PAX6	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Pbx1	MGI:97495	PBX1	Mouse only
601665	Obesity		Pcsk1	MGI:97511	PCSK1	Mouse only
276950	Vacterl Association with Hydrocephalus		Pcsk5	MGI:97515	PCSK5	Mouse only
268000	Retinitis Pigmentosa; RP		Pde6a	MGI:97524	PDE6A	Mouse only
268000	Retinitis Pigmentosa; RP		Pde6b	MGI:97525	PDE6B	Mouse only
216900	Achromatopsia 2; ACHM2	Colorblindness, Total|Rod Monochromacy 2; RMCH2|Rod Monochromatism 2	Pde6c	MGI:105956	PDE6C	Mouse only
268000	Retinitis Pigmentosa; RP		Pde6g	MGI:97526	PDE6G	Mouse only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH	Pdgfra	MGI:97530	PDGFRA	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Pdpk1	MGI:1338068	PDPK1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Pdx1	MGI:102851	PDX1	Mouse only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Pdx1	MGI:102851	PDX1	Mouse only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex11a	MGI:1338788	PEX11A	Mouse only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex11b	MGI:1338882	PEX11B	Mouse only
608089	Endometrial Cancer		Pgr	MGI:97567	PGR	Mouse only
187500	Tetralogy of Fallot; TOF		Phc1	MGI:103248	PHC1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Phex	MGI:107489	PHEX	Mouse only
193100	Hypophosphatemic Rickets, Autosomal Dominant; ADHR	Hypophosphatemia, Autosomal Dominant|Vitamin D-Resistant Rickets, Autosomal Dominant	Phex	MGI:107489	PHEX	Mouse only
608219	Deafness, Autosomal Recessive 38; DFNB38		Phl1	MGI:3046339		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Phox2a	MGI:106633	PHOX2A	Mouse only
300755	Agammaglobulinemia, X-Linked; XLA	Agammaglobulinemia, X-Linked, Type 1; AGMX1|Bruton-Type Agammaglobulinemia	Pik3r1	MGI:97583	PIK3R1	Mouse only
246700	Chylomicron Retention Disease; CMRD	Anderson Disease; ANDD|Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells|Lipid Transport Defect of Intestine	Pitpna	MGI:99887	PITPNA	Mouse only
104300	Alzheimer Disease; AD		Plcb1	MGI:97613	PLCB1	Mouse only
181500	Schizophrenia; SCZD		Plcb1	MGI:97613	PLCB1	Mouse only
130700	Emphysema, Hereditary Pulmonary		Pldn	MGI:1927580	PLDN	Mouse only
185050	Storage Pool Platelet Disease		Pldn	MGI:1927580	PLDN	Mouse only
601665	Obesity		Plscr3	MGI:1917560	PLSCR3	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	plt	MGI:3664332		Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	pma	MGI:97628		Mouse only
208100	Arthrogryposis Multiplex Congenita, Neurogenic Type; AMCN	AMC, Neurogenic Type	pma	MGI:97628		Mouse only
256840	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive		Pnpla6	MGI:1354723	PNPLA6	Mouse only
244400	Ciliary Dyskinesia, Primary, 1; CILD1	Ciliary Dyskinesia, Primary, 1, with or without Situs Inversus|Immotile Cilia Syndrome; ICS|Pcd	Poll	MGI:1889000	POLL	Mouse only
608526	Periodontitis, Aggressive, 2		Postn	MGI:1926321	POSTN	Mouse only
127550	Dyskeratosis Congenita, Autosomal Dominant, 1; DKCA1	Dyskeratosis Congenita, Scoggins Type	Pot1b	MGI:1920086		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Pparg	MGI:97747	PPARG	Mouse only
269700	Lipodystrophy, Congenital Generalized, Type 2; CGL2	Berardinelli Syndrome|Berardinelli-Seip Congenital Lipodystrophy, Type 2|Brunzell Syndrome, Bscl2-Related|Lipoatrophic Diabetes, Congenital|Lipodystrophy, Berardinelli-Seip Congenital, Type 2|Lipodystrophy, Total, and Acromegaloid Gigantism|Seip Syndrome	Pparg	MGI:97747	PPARG	Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Pparg	MGI:97747	PPARG	Mouse only
181500	Schizophrenia; SCZD		Ppm1g	MGI:106065	PPM1G	Mouse only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Ppm1k	MGI:2442111	PPM1K	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Ppp1r3a	MGI:2153588	PPP1R3A	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Ppp1r3c	MGI:1858229	PPP1R3C	Mouse only
104300	Alzheimer Disease; AD		Ppp3ca	MGI:107164	PPP3CA	Mouse only
181500	Schizophrenia; SCZD		Ppp3r1	MGI:107172	PPP3R1	Mouse only
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Ppt1	MGI:1298204	PPT1	Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Prf1	MGI:97551	PRF1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Prf1	MGI:97551	PRF1	Mouse only
607115	CINCA Syndrome; CINCA	Chronic Neurologic Cutaneous and Articular Syndrome|Multisystem Inflammatory Disease, Neonatal-Onset; NOMID	Prkaca	MGI:97592	PRKACA	Mouse only
607115	CINCA Syndrome; CINCA	Chronic Neurologic Cutaneous and Articular Syndrome|Multisystem Inflammatory Disease, Neonatal-Onset; NOMID	Prkar1a	MGI:104878	PRKAR1A	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Prkdc	MGI:104779	PRKDC	Mouse only
601457	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	SCID, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Prkdc	MGI:104779	PRKDC	Mouse only
607014	Hurler Syndrome	Mucopolysaccharidosis Type IH; MPS1-H	Prkdc	MGI:104779	PRKDC	Mouse only
600674	Microtia-Anotia		Prkra	MGI:1344375	PRKRA	Mouse only
601665	Obesity		Prlh	MGI:3644668	PRLH	Mouse only
155240	Thyroid Carcinoma, Familial Medullary; MTC	Fmtc|MTC1	Prlr	MGI:97763	PRLR	Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Prnp	MGI:97769	PRNP	Mouse only
265300	Lymphangiectasia, Pulmonary, Congenital; CPL	Lymphangiomatosis, Pulmonary|Pulmonary Cystic Lymphangiectasis	Prox1	MGI:97772	PROX1	Mouse only
601665	Obesity		Prox1	MGI:97772	PROX1	Mouse only
268000	Retinitis Pigmentosa; RP		Prph2	MGI:102791	PRPH2	Mouse only
242500	Ichthyosis Congenita, Harlequin Fetus Type	'Harlequin Fetus'|Harlequin Ichthyosis	Prss8	MGI:1923810	PRSS8	Mouse only
230800	Gaucher Disease, Type I	Acid Beta-Glucosidase Deficiency|Gaucher Disease, Noncerebral Juvenile|GBA Deficiency|GD I|Glucocerebrosidase Deficiency	Psap	MGI:97783	PSAP	Mouse only
230900	Gaucher Disease, Type II	Gaucher Disease, Acute Neuronopathic Type|GD II	Psap	MGI:97783	PSAP	Mouse only
231000	Gaucher Disease, Type III	Gaucher Disease, Chronic Neuronopathic Type|Gaucher Disease, Subacute Neuronopathic Type|GD III	Psap	MGI:97783	PSAP	Mouse only
245200	Krabbe Disease	Galactocerebrosidase Deficiency|Galactosylceramide Beta-Galactosidase Deficiency|Galc Deficiency|Globoid Cell Leukodystrophy; GLD; GCL|Globoid Cell Leukoencephalopathy	Psap	MGI:97783	PSAP	Mouse only
104300	Alzheimer Disease; AD		Psen1	MGI:1202717	PSEN1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Psen1	MGI:1202717	PSEN1	Mouse only
182000	Keratosis, Seborrheic		Psen1	MGI:1202717	PSEN1	Mouse only
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Psen1	MGI:1202717	PSEN1	Mouse only
104300	Alzheimer Disease; AD		Psen2	MGI:109284	PSEN2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Psen2	MGI:109284	PSEN2	Mouse only
182000	Keratosis, Seborrheic		Psen2	MGI:109284	PSEN2	Mouse only
259680	Chronic Recurrent Multifocal Osteomyelitis; CRMO	Osteomyelitis, Chronic Multifocal; CMO	Pstpip2	MGI:1335088	PSTPIP2	Mouse only
108800	Atrial Septal Defect 1; ASD1		pta	MGI:3522243		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	pta	MGI:3522243		Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	pta	MGI:3522243		Mouse only
109800	Bladder Cancer		Pten	MGI:109583	PTEN	Mouse only
114480	Breast Cancer		Pten	MGI:109583	PTEN	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Pten	MGI:109583	PTEN	Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Pten	MGI:109583	PTEN	Mouse only
167000	Ovarian Cancer		Pten	MGI:109583	PTEN	Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Pten	MGI:109583	PTEN	Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Pten	MGI:109583	PTEN	Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Pten	MGI:109583	PTEN	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Ptger4	MGI:104311	PTGER4	Mouse only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Ptgs1	MGI:97797	PTGS1	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Ptgs1	MGI:97797	PTGS1	Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Ptgs2	MGI:97798	PTGS2	Mouse only
100800	Achondroplasia; ACH		Pthlh	MGI:97800	PTHLH	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Ptprc	MGI:97810	PTPRC	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ptprn2	MGI:107418	PTPRN2	Mouse only
128230	Dystonia, Dopa-Responsive; DRD	Dopa-Responsive Dystonia, Autosomal Dominant|Dystonia 5; DYT5|Dystonia, Dopa-Responsive, Autosomal Dominant|Dystonia, Progressive, with Diurnal Variation|Dystonia-Parkinsonism with Diurnal Fluctuation|Segawa Syndrome, Autosomal Dominant	Pts	MGI:1338783	PTS	Mouse only
114500	Colorectal Cancer; CRC	Colon Cancer	Rab25	MGI:1858203	RAB25	Mouse only
175100	Familial Adenomatous Polyposis 1; FAP1	Adenomatous Polyposis of the Colon; APC|Familial Polyposis of the Colon; FPC	Rab25	MGI:1858203	RAB25	Mouse only
185050	Storage Pool Platelet Disease		Rab27a	MGI:1861441	RAB27A	Mouse only
185050	Storage Pool Platelet Disease		Rab27b	MGI:1931295	RAB27B	Mouse only
147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	Hies, Autosomal Dominant|Hyper-Ige Syndrome, Autosomal Dominant|Job Syndrome	Rag1	MGI:97848	RAG1	Mouse only
155255	Medulloblastoma; MDB		Rag1	MGI:97848	RAG1	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Rag1	MGI:97848	RAG1	Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Rag2	MGI:97849	RAG2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Rasgrp1	MGI:1314635	RASGRP1	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Rassf5	MGI:1926375	RASSF5	Mouse only
190685	Down Syndrome		Rb(12.Ts17<16>65Dn)2Cje	MGI:3531160		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Rb1	MGI:97874	RB1	Mouse only
155255	Medulloblastoma; MDB		Rb1	MGI:97874	RB1	Mouse only
167000	Ovarian Cancer		Rb1	MGI:97874	RB1	Mouse only
182280	Small Cell Cancer of the Lung	SCLC; SCCL|SCLC1	Rb1	MGI:97874	RB1	Mouse only
256700	Neuroblastoma, Susceptibility to		Rb1	MGI:97874	RB1	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Rbl1	MGI:103300	RBL1	Mouse only
180200	Retinoblastoma; RB1	Rb	Rbl1	MGI:103300	RBL1	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Rbl2	MGI:105085	RBL2	Mouse only
180200	Retinoblastoma; RB1	Rb	Rbl2	MGI:105085	RBL2	Mouse only
182280	Small Cell Cancer of the Lung	SCLC; SCCL|SCLC1	Rbl2	MGI:105085	RBL2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Rc3h1	MGI:2685397	RC3H1	Mouse only
153800	Macular Degeneration, Age-Related, 2; ARMD2	Macular Degeneration, Senile|Maculopathy, Age-Related, 2	Rdh8	MGI:2685028	RDH8	Mouse only
237500	Dubin-Johnson Syndrome; DJS	Hyperbilirubinemia II|Hyperbilirubinemia, Dubin-Johnson Type; HBLRDJ	Rdx	MGI:97887	RDX	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Ret	MGI:97902	RET	Mouse only
268000	Retinitis Pigmentosa; RP		Rho	MGI:97914	RHO	Mouse only
211980	Lung Cancer		Robo1	MGI:1274781	ROBO1	Mouse only
268000	Retinitis Pigmentosa; RP		Rpe65	MGI:98001	RPE65	Mouse only
613794	Retinitis Pigmentosa 20; RP20		Rpe65	MGI:98001	RPE65	Mouse only
613826	Leber Congenital Amaurosis 6; LCA6		Rpgrip1	MGI:1932134	RPGRIP1	Mouse only
165500	Optic Atrophy 1; OPA1	Kjer-Type Optic Atrophy|Optic Atrophy, Juvenile|Optic Atrophy, Kjer Type; OAK	Rpl24	MGI:1915443	RPL24	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Rpl38	MGI:1914921	RPL38	Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Rpsa	MGI:105381	RPSA	Mouse only
604400	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; ARVD5	Arrhythmogenic Right Ventricular Cardiomyopathy 5; ARVC5	Rpsa	MGI:105381	RPSA	Mouse only
601665	Obesity		Rsc1a1	MGI:3526447	RSC1A1	Mouse only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Runx3	MGI:102672	RUNX3	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Rxra	MGI:98214	RXRA	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Sall4	MGI:2139360	SALL4	Mouse only
115000	Cardiac Arrhythmia	Extrasystoles	Scn5a	MGI:98251	SCN5A	Mouse only
220110	Mitochondrial Complex IV Deficiency	COX Deficiency|Cytochrome C Oxidase Deficiency	Sco2	MGI:3818630	SCO2	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Sell	MGI:98279	SELL	Mouse only
260400	Shwachman-Diamond Syndrome; SDS	Lipomatosis of Pancreas, Congenital|Pancreatic Insufficiency and Bone Marrow Dysfunction|Shwachman-Bodian Syndrome	Serpini2	MGI:1915181	SERPINI2	Mouse only
260450	Pancreatic Insufficiency, Combined Exocrine		Serpini2	MGI:1915181	SERPINI2	Mouse only
601626	Leukemia, Acute Myeloid; AML		Sfpi1	MGI:98282	SPI1	Mouse only
263000	Interstitial Pneumonitis, Desquamative, Familial; DIP	Ild, Desquamative|Interstitial Lung Disease, Desquamative|Pneumonia, Desquamative Interstitial, Familial|Pneumonitis, Desquamative Interstitial, Familial	Sftpc	MGI:109517	SFTPC	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Sh3pxd2b	MGI:2442062	SH3PXD2B	Mouse only
209850	Autism		Shank3	MGI:1930016	SHANK3	Mouse only
603165	Dermatitis, Atopic	ATOD	Sharpin	MGI:1913331	SHARPIN	Mouse only
112500	Brachydactyly, Type A1; BDA1	Farabee-Type Brachydactyly	Shh	MGI:98297	SHH	Mouse only
157170	Holoprosencephaly 2; HPE2		Shh	MGI:98297	SHH	Mouse only
127300	Leri-Weill Dyschondrosteosis; LWD		Shox2	MGI:1201673	SHOX2	Mouse only
249700	Langer Mesomelic Dysplasia; LMD	Dyschondrosteosis, Homozygous|Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type	Shox2	MGI:1201673	SHOX2	Mouse only
601665	Obesity		Sim2	MGI:98307	SIM2	Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Sipa1	MGI:107576	SIPA1	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Sirt1	MGI:2135607	SIRT1	Mouse only
113650	Branchiootorenal Syndrome 1; BOR1	Branchiootorenal Dysplasia|Melnick-Fraser Syndrome	Six1	MGI:102780	SIX1	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	skc3	MGI:2671601		Mouse only
600080	Myelocytic Leukemia-Like Syndrome, Familial, Chronic	CML-Like Syndrome, Familial	Slc11a1	MGI:1345275	SLC11A1	Mouse only
222730	Dicarboxylicamino Aciduria	Glutamate-Aspartate Transport Defect	Slc1a1	MGI:105083	SLC1A1	Mouse only
606657	Glaucoma, Normal Tension, Susceptibility to	Glaucoma, Normal Pressure, Susceptibility To; NPG|NTG	Slc1a1	MGI:105083	SLC1A1	Mouse only
606657	Glaucoma, Normal Tension, Susceptibility to	Glaucoma, Normal Pressure, Susceptibility To; NPG|NTG	Slc1a3	MGI:99917	SLC1A3	Mouse only
214700	Diarrhea 1, Secretory Chloride, Congenital; DIAR1	Chloride Diarrhea, Congenital, Finnish Type|Chloridorrhea, Congenital	Slc26a3	MGI:107181	SLC26A3	Mouse only
275210	Restrictive Dermopathy, Lethal	Fetal Hypokinesia Sequence Due to Restrictive Dermopathy|Hyperkeratosis-Contracture Syndrome|Tight Skin Contracture Syndrome, Lethal	Slc27a4	MGI:1347347	SLC27A4	Mouse only
103780	Alcohol Dependence	Alcoholism	Slc29a1	MGI:1927073	SLC29A1	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Slc2a2	MGI:1095438	SLC2A2	Mouse only
241530	Hypophosphatemic Rickets with Hypercalciuria, Hereditary; HHRH	Hypercalciuric Rickets	Slc34a1	MGI:1345284	SLC34A1	Mouse only
109270	Solute Carrier Family 4 (anion Exchanger), Member 1; SLC4A1	Band 3 of Red Cell Membrane; BND3|Erythrocyte Membrane Protein Band 3; EMPB3|Erythroid Protein Band 3; EPB3	Slc4a4	MGI:1927555	SLC4A4	Mouse only
605472	Usher Syndrome, Type IIC; USH2C		Slc4a7	MGI:2443878	SLC4A7	Mouse only
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS	Slc6a3	MGI:94862	SLC6A3	Mouse only
164230	Obsessive-Compulsive Disorder; OCD		Slc6a3	MGI:94862	SLC6A3	Mouse only
181500	Schizophrenia; SCZD		Slc6a3	MGI:94862	SLC6A3	Mouse only
556500	Parkinson Disease, Mitochondrial		Slc6a3	MGI:94862	SLC6A3	Mouse only
272120	Sudden Infant Death Syndrome	SIDS	Slc6a4	MGI:96285	SLC6A4	Mouse only
268000	Retinitis Pigmentosa; RP		Slc6a6	MGI:98488	SLC6A6	Mouse only
605899	Glycine Encephalopathy; GCE		Slc6a9	MGI:95760	SLC6A9	Mouse only
185050	Storage Pool Platelet Disease		Slc7a11	MGI:1347355	SLC7A11	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	sld	MGI:98316		Mouse only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH	Slit3	MGI:1315202	SLIT3	Mouse only
164230	Obsessive-Compulsive Disorder; OCD		Slitrk5	MGI:2679448	SLITRK5	Mouse only
167000	Ovarian Cancer		Smad1	MGI:109452	SMAD1	Mouse only
114500	Colorectal Cancer; CRC	Colon Cancer	Smad3	MGI:1201674	SMAD3	Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Smad3	MGI:1201674	SMAD3	Mouse only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC	Smad3	MGI:1201674	SMAD3	Mouse only
114500	Colorectal Cancer; CRC	Colon Cancer	Smad4	MGI:894293	SMAD4	Mouse only
167000	Ovarian Cancer		Smad5	MGI:1328787	SMAD5	Mouse only
208500	Asphyxiating Thoracic Dystrophy 1; ATD1	Jeune Syndrome|Thoracic-Pelvic-Phalangeal Dystrophy	Smarcad1	MGI:95453	SMARCAD1	Mouse only
206920	Microphthalmia with Limb Anomalies	Anophthalmia-Syndactyly|Ophthalmoacromelic Syndrome; OAS|Waardenburg Anophthalmia Syndrome	Smoc1	MGI:1929878	SMOC1	Mouse only
262600	Pituitary Hormone Deficiency, Combined, 2; CPHD2	Ateliotic Dwarfism with Hypogonadism|Hanhart Dwarfism|Panhypopituitarism|Pituitary Dwarfism III	Smpd3	MGI:1927578	SMPD3	Mouse only
176270	Prader-Willi Syndrome; PWS		Snord116	MGI:1891407	PWCR1	Mouse only
105830	Angelman Syndrome; AS		Snrpn	MGI:98347	SNRPN	Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Sod2	MGI:98352	SOD2	Mouse only
256000	Leigh Syndrome; LS		Sod2	MGI:98352	SOD2	Mouse only
271900	Canavan Disease	ACY2 Deficiency|Aminoacylase 2 Deficiency|ASP Deficiency|ASPA Deficiency|Aspartoacylase Deficiency|Canavan-Van Bogaert-Bertrand Disease|Spongy Degeneration of Central Nervous System	Sod2	MGI:98352	SOD2	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Sox10	MGI:98358	SOX10	Mouse only
182900	Spherocytosis, Type 1; SPH1	Sph; HS|Spherocytosis, Hereditary, 1; HS1	Spna1	MGI:98385	SPTA1	Mouse only
603903	Sickle Cell Anemia		Spna1	MGI:98385	SPTA1	Mouse only
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	Spnb2	MGI:98388	SPTBN1	Mouse only
602404	Parkinson Disease 3, Autosomal Dominant; PARK3	Parkinson Disease 3, Autosomal Dominant Lewy Body	Spr	MGI:103078	SPR	Mouse only
100800	Achondroplasia; ACH		Spred2	MGI:2150019	SPRED2	Mouse only
101200	Apert Syndrome	Acrocephalosyndactyly, Type I; ACS1	Spry2	MGI:1345138	SPRY2	Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Spry2	MGI:1345138	SPRY2	Mouse only
200400	Achalasia, Familial Esophageal		Spry2	MGI:1345138	SPRY2	Mouse only
601223	Neuronal Intestinal Dysplasia, Type B	Nid B	Spry2	MGI:1345138	SPRY2	Mouse only
101200	Apert Syndrome	Acrocephalosyndactyly, Type I; ACS1	Spry4	MGI:1345144	SPRY4	Mouse only
181500	Schizophrenia; SCZD		Srr	MGI:1351636	SRR	Mouse only
208500	Asphyxiating Thoracic Dystrophy 1; ATD1	Jeune Syndrome|Thoracic-Pelvic-Phalangeal Dystrophy	srt	MGI:2152541		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Stat4	MGI:103062	STAT4	Mouse only
608089	Endometrial Cancer		Stk11	MGI:1341870	STK11	Mouse only
263800	Gitelman Syndrome	Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria|Potassium and Magnesium Depletion	Stk39	MGI:1858416	STK39	Mouse only
109400	Basal Cell Nevus Syndrome; BCNS	Gorlin Syndrome|Gorlin-Goltz Syndrome|Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies|Nevoid Basal Cell Carcinoma Syndrome; NBCCS	Sufu	MGI:1345643	SUFU	Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	T(2;10)67Gso	MGI:2154470		Mouse only
176270	Prader-Willi Syndrome; PWS		T(7;18)50H	MGI:103975		Mouse only
181500	Schizophrenia; SCZD		Taar1	MGI:2148258	TAAR1	Mouse only
120435	Lynch Syndrome I	Colon Cancer, Familial Nonpolyposis, Type 1; FCC1|Colorectal Cancer, Hereditary Nonpolyposis, Type 1; HNPCC1	Tap1	MGI:98483	TAP1	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Tbx1	MGI:98493	TBX1	Mouse only
108800	Atrial Septal Defect 1; ASD1		Tbx20	MGI:1888496	TBX20	Mouse only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Tbx21	MGI:1888984	TBX21	Mouse only
277300	Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1	Costovertebral Dysplasia|Jarcho-Levin Syndrome|Spondylothoracic Dysostosis|Spondylothoracic Dysplasia|Vertebral Anomalies	Tbx6	MGI:102539	TBX6	Mouse only
190685	Down Syndrome		Tc(Hsa21)1TybEmcf	MGI:3814702		Mouse only
182940	Neural Tube Defects		Tcf3	MGI:98510	TCF3	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Tcirg1	MGI:1350931	TCIRG1	Mouse only
604219	Cataract, Autosomal Dominant		Tcm	MGI:98533		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tcrb	MGI:98578	TRB@	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tcrd	MGI:98611	TRD@	Mouse only
300755	Agammaglobulinemia, X-Linked; XLA	Agammaglobulinemia, X-Linked, Type 1; AGMX1|Bruton-Type Agammaglobulinemia	Tec	MGI:98662	TEC	Mouse only
609049	Pierson Syndrome	Microcoria-Congenital Nephrotic Syndrome	Tenc1	MGI:2387586	TENC1	Mouse only
277700	Werner Syndrome; WRN		Terc	MGI:109558	TERC	Mouse only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Terc	MGI:109558	TERC	Mouse only
530000	Kearns-Sayre Syndrome; KSS	Chronic Progressive External Ophthalmoplegia with Myopathy|CPEO with Myopathy|CPEO with Ragged-Red Fibers|Mitochondrial Cytopathy|Oculocraniosomatic Syndrome|Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy|Ophthalmoplegia, Progressive External, with Ragged-Red Fibers|Ophthalmoplegia-Plus Syndrome	Tfam	MGI:107810	TFAM	Mouse only
556500	Parkinson Disease, Mitochondrial		Tfam	MGI:107810	TFAM	Mouse only
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	Tfrc	MGI:98822	TFRC	Mouse only
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Tg(ACTA1-Ar)141Kyjo	MGI:3793691		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(ACTA1-cre)79Jme	MGI:2447634		Mouse only
158900	Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A	Facioscapulohumeral Muscular Dystrophy; FMD|Muscular Dystrophy, Facioscapulohumeral, Type 1; FSHD1|Muscular Dystrophy, Facioscapulohumeral, Type 1A; FSHD1A	Tg(ACTA1-Frg1)highRotu	MGI:3817470		Mouse only
158900	Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A	Facioscapulohumeral Muscular Dystrophy; FMD|Muscular Dystrophy, Facioscapulohumeral, Type 1; FSHD1|Muscular Dystrophy, Facioscapulohumeral, Type 1A; FSHD1A	Tg(ACTA1-Frg1)medRotu	MGI:3817469		Mouse only
159000	Muscular Dystrophy, Limb-Girdle, Type 1A; LGMD1A	LGMD1|Muscular Dystrophy, Proximal, Type 1A	Tg(ACTA1-MYOT*T57I)71Mah	MGI:3640476		Mouse only
609200	Myopathy, Myofibrillar, 3; MFM3	Myopathy, Myofibrillar, Myotilin-Related|Myotilinopathy	Tg(ACTA1-MYOT*T57I)71Mah	MGI:3640476		Mouse only
182920	Myopathy, Spheroid Body		Tg(ACTA1-MYOT*T57I)71Mah	MGI:3640476		Mouse only
164300	Oculopharyngeal Muscular Dystrophy; OPMD	Muscular Dystrophy, Oculopharyngeal	Tg(ACTA1-PABPN1*A17)1Drub	MGI:3693297		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(ACTA1-SMN)69Ahmb	MGI:3774941		Mouse only
148000	Kaposi Sarcoma	Multiple Idiopathic Pigmented Hemangiosarcoma	Tg(Acta2-RAC1*G12V)33Pjgc	MGI:3850846		Mouse only
104300	Alzheimer Disease; AD		Tg(ACTB-APP*V717F)1Colm	MGI:4438221		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(ACTB-cre)1Tes	MGI:2677704		Mouse only
611228	Charcot-Marie-Tooth Disease, Type 4j; CMT4J	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Tg(ACTB-Fig4*I41T)705Mm	MGI:5014373		Mouse only
605820	Nonaka Myopathy; NM	Myopathy, Distal, with Rimmed Vacuoles; DMRV|Nonaka Distal Myopathy	Tg(ACTB-GNE*D176V)9Sngi	MGI:3698857		Mouse only
609286	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3; PEOA3	Progressive External Ophthalmoplegia, Autosomal Dominant, 3	Tg(ACTB-Peo1*)DSuom	MGI:3836895		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tg(ACTB-TNFRSF6B)754Jwu	MGI:3843669		Mouse only
600376	Telangiectasia, Hereditary Hemorrhagic, Type 2; HHT2		Tg(Acvrl1-cre)L1Spo	MGI:4398907		Mouse only
610489	Pigmented Nodular Adrenocortical Disease, Primary, 1; PPNAD1	Adrenocortical Nodular Dysplasia, Primary|Cushing Syndrome, Adrenal, Due to Ppnad1|Pigmented Micronodular Adrenocortical Disease, Primary, 1	Tg(Akr1b7-cre)1Anm	MGI:3839675		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(Alb-cre)21Mgn	MGI:2176226		Mouse only
125851	Maturity-Onset Diabetes of the Young, Type 2; MODY2	Mody, Type 2	Tg(Alb-cre)21Mgn	MGI:2176226		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Alb-cre)21Mgn	MGI:2176226		Mouse only
205400	Tangier Disease; TGD	Analphalipoproteinemia|High Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1; HDLDT1	Tg(Alb-cre)21Mgn	MGI:2176226		Mouse only
240600	Glycogen Storage Disease 0, Liver	Gsd 0a; GSD0A|Hypoglycemia with Deficiency of Glycogen Synthetase in the Liver|Liver Glycogen Storage Disease 0|Liver Glycogen Synthase Deficiency	Tg(Alb-cre)21Mgn	MGI:2176226		Mouse only
205400	Tangier Disease; TGD	Analphalipoproteinemia|High Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1; HDLDT1	Tg(ALB-cre,CMV-rtTA)#Wcyy	MGI:3510914		Mouse only
306700	Hemophilia A; HEMA	Hemophilia, Classic	Tg(Alb-F8)EBmre	MGI:5297956		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(Alb-TAg)#Arnd	MGI:5000252		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(Alb-TAg)1Gjh	MGI:3797587		Mouse only
601489	Insulin-Like Growth Factor-Binding Protein, Acid-Labile Subunit; IGFALS	IGFBP, Soluble	Tg(Alb1-cre)1Dlr	MGI:2176944		Mouse only
301200	Amelogenesis Imperfecta, Type IE; AI1E	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1|Amelogenesis Imperfecta, X-Linked 1; AIH1	Tg(AMELX*P70T)2Gibs	MGI:3716187		Mouse only
167000	Ovarian Cancer		Tg(Amhr2-SV40TAg)1Dcco	MGI:3037886		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tg(aP2-SREBF1c)9884Reh	MGI:3028849		Mouse only
269700	Lipodystrophy, Congenital Generalized, Type 2; CGL2	Berardinelli Syndrome|Berardinelli-Seip Congenital Lipodystrophy, Type 2|Brunzell Syndrome, Bscl2-Related|Lipoatrophic Diabetes, Congenital|Lipodystrophy, Berardinelli-Seip Congenital, Type 2|Lipodystrophy, Total, and Acromegaloid Gigantism|Seip Syndrome	Tg(aP2-SREBF1c)9884Reh	MGI:3028849		Mouse only
205400	Tangier Disease; TGD	Analphalipoproteinemia|High Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1; HDLDT1	Tg(APOA1)427Bres	MGI:3614552		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tg(APOB)11Rub	MGI:2385513		Mouse only
144250	Hyperlipidemia, Familial Combined; FCHL	Familial Combined Hyperlipidemia	Tg(APOC3)3707Bres	MGI:3703616		Mouse only
104300	Alzheimer Disease; AD		Tg(APP)8.9Btla	MGI:3510628		Mouse only
104300	Alzheimer Disease; AD		Tg(APP695)3Dbo	MGI:2448606		Mouse only
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Tg(APP695)3Dbo	MGI:2448606		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(APP695)3Dbo	MGI:2448606		Mouse only
104300	Alzheimer Disease; AD		Tg(APPSw)40Btla	MGI:3510557		Mouse only
104300	Alzheimer Disease; AD		Tg(APPSWE)2576Kha	MGI:2385632		Mouse only
104300	Alzheimer Disease; AD		Tg(APPswe,PSEN1dE9)85Dbo	MGI:3525178		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(APPswe,PSEN1dE9)85Dbo	MGI:3525178		Mouse only
104300	Alzheimer Disease; AD		Tg(APPSwe,tauP301L)1Lfa	MGI:2684637		Mouse only
104300	Alzheimer Disease; AD		Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas	MGI:3693207		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas	MGI:3693207		Mouse only
104300	Alzheimer Disease; AD		Tg(APPSwLon)96Btla	MGI:3693358		Mouse only
104300	Alzheimer Disease; AD		Tg(APPV717F)109Ili	MGI:2152038		Mouse only
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Tg(AR*100Q)#Als	MGI:5000271		Mouse only
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Tg(AR*100Q)C25Als	MGI:5000272		Mouse only
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Tg(AR*100Q)C32Als	MGI:5000273		Mouse only
176807	Prostate Cancer		Tg(ARR2/Pbsn-FGF8)3Prb	MGI:2681438		Mouse only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Tg(ATN1*)Q129Stsu	MGI:3834567		Mouse only
155255	Medulloblastoma; MDB		Tg(Atoh1-cre)1Bfri	MGI:3775842		Mouse only
155255	Medulloblastoma; MDB		Tg(Atoh1-cre/Esr1*)14Fsh	MGI:3615689		Mouse only
155255	Medulloblastoma; MDB		Tg(Atoh1-GFP)1Jejo	MGI:3794970		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(ATXN3*)67.2Cce	MGI:3838159		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(ATXN3*)84.2Cce	MGI:3838160		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(BCR/ABL)623Hkp	MGI:3582387		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(BCR/ABL1)5Hhi	MGI:3039035		Mouse only
313200	Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1	Bulbospinal Muscular Atrophy, X-Linked|Bulbospinal Neuronopathy, X-Linked Recessive; XBSN|Kennedy Disease; KD|Kennedy Spinal and Bulbar Muscular Atrophy|Spinal and Bulbar Muscular Atrophy; SBMA	Tg(CAG-AR*97Q)7-8Sobu	MGI:3767712		Mouse only
610048	Corneal Dystrophy, Congenital Stromal; CSCD	Congenital Stromal Corneal Dystrophy	Tg(CAG-cat,-Dcn*)#Debi	MGI:5298092		Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Tg(CAG-cat,-Ptpn11*Q97R)1Rbns	MGI:3822047		Mouse only
311200	Orofaciodigital Syndrome I; OFD1	Ofds I|Oral-Facial-Digital Syndrome, Type I|Papillon-Leage and Psaume Syndrome	Tg(CAG-cre)1Nagy	MGI:3586450		Mouse only
120100	Familial Cold Autoinflammatory Syndrome 1; FCAS1	Cold Hypersensitivity|Cold Urticaria, Familial; FCU|Cold-Induced Autoinflammatory Syndrome, Familial|Fcas	Tg(CAG-cre/Esr1*)5Amc	MGI:2182765		Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Tg(CAG-cre/Esr1*)5Amc	MGI:2182765		Mouse only
191900	Muckle-Wells Syndrome; MWS	UDA Syndrome|Urticaria-Deafness-Amyloidosis Syndrome	Tg(CAG-cre/Esr1*)5Amc	MGI:2182765		Mouse only
600995	Nephrotic Syndrome, Type 2; NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive; SRN1	Tg(CAG-cre/Esr1*)86Lbgn	MGI:3618927		Mouse only
123700	Cutis Laxa, Autosomal Dominant 1; ADCL1		Tg(CAG-ELN*)2Zu	MGI:4867506		Mouse only
123700	Cutis Laxa, Autosomal Dominant 1; ADCL1		Tg(CAG-ELN*)60Zu	MGI:4867507		Mouse only
114480	Breast Cancer		Tg(CAG-Has2)99Nita	MGI:3785858		Mouse only
135100	Fibrodysplasia Ossificans Progressiva; FOP		Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis	MGI:3821883		Mouse only
167000	Ovarian Cancer		Tg(CAG-lacZ,-SV40)#Bcv	MGI:4439282		Mouse only
194200	Wolff-Parkinson-White Syndrome		Tg(CAG-Map3k7*K63W)1232Mds	MGI:3696411		Mouse only
613095	Polycystic Kidney Disease 2; PKD2	Polycystic Kidney Disease, Adult, Type II; APKD2	Tg(CAG-PKD2)#Hwl	MGI:3844549		Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Tg(CAG-RPS19*R62W)#Dmb	MGI:4839331		Mouse only
176807	Prostate Cancer		Tg(CAG-SAC/EGFP)35Rang	MGI:3772369		Mouse only
168600	Parkinson Disease, Late-Onset; PD	Park	Tg(CAG-SNCA*)1.1Ccs	MGI:3764732		Mouse only
162400	Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A	Hsan IA|Hsn IA|Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a|Neuropathy, Hereditary Sensory, Type IA; HSN1A	Tg(CAG-SPTLC1*C133W)8EAmcc	MGI:4418349		Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tg(CAG-SYVN1)1Tn	MGI:4421696		Mouse only
167320	Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia; IBMPFD	Lower Motor Neuron Degeneration with Paget-Like Bone Disease|Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone|Pagetoid Amyotrophic Lateral Sclerosis|Pagetoid Neuroskeletal Syndrome	Tg(CAG-VCP*A232E)93Jpat	MGI:4440447		Mouse only
167320	Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia; IBMPFD	Lower Motor Neuron Degeneration with Paget-Like Bone Disease|Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone|Pagetoid Amyotrophic Lateral Sclerosis|Pagetoid Neuroskeletal Syndrome	Tg(CAG-VCP*R155H)55Jpat	MGI:4440446		Mouse only
277700	Werner Syndrome; WRN		Tg(CAG-WRN*K577M)5025Wcl	MGI:3525072		Mouse only
104300	Alzheimer Disease; AD		Tg(Camk2a-App*,-Apbb1)25Spim	MGI:4366525		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Camk2a-cre)1Szi	MGI:2177766		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Camk2a-cre)2Gsc	MGI:2181425		Mouse only
610253	Kleefstra Syndrome	9q Subtelomeric Deletion Syndrome|9q- Syndrome|Chromosome 9q34.3 Deletion Syndrome	Tg(Camk2a-cre)2Gsc	MGI:2181425		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Camk2a-cre)2Szi	MGI:2177767		Mouse only
312750	Rett Syndrome; RTT	RTS	Tg(Camk2a-cre)93Kln	MGI:2176752		Mouse only
181500	Schizophrenia; SCZD		Tg(Camk2a-cre)CW2Stl	MGI:3530536		Mouse only
104300	Alzheimer Disease; AD		Tg(Camk2a-cre)T29-1Stl	MGI:2177646		Mouse only
180849	Rubinstein-Taybi Syndrome 1; RSTS1	Broad Thumb-Hallux Syndrome|Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation|Rubinstein Syndrome	Tg(Camk2a-cre)T29-1Stl	MGI:2177646		Mouse only
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Tg(Camk2a-cre)T29-1Stl	MGI:2177646		Mouse only
181500	Schizophrenia; SCZD		Tg(Camk2a-DISC1)10Asaw	MGI:3758075		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Camk2a-MAPT*R406W)748Atak	MGI:3603947		Mouse only
607485	Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related	Frontotemporal Dementia with Tdp43 Inclusions, Grn-Related|Frontotemporal Dementia, Ubiquitin-Positive; FTDU|Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions; FTLDU|Ftld-Tdp, Grn-Related	Tg(Camk2a-Tardbp)#Ckjs	MGI:4830518		Mouse only
104300	Alzheimer Disease; AD		Tg(Camk2a-tTA)1Mmay	MGI:2179062		Mouse only
127750	Dementia, Lewy Body; DLB	Lewy Body Dementia	Tg(Camk2a-tTA)1Mmay	MGI:2179062		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Camk2a-tTA)1Mmay	MGI:2179062		Mouse only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Tg(Camk2a-tTA)1Mmay	MGI:2179062		Mouse only
181500	Schizophrenia; SCZD		Tg(Camk2a-tTA)1Mmay	MGI:2179062		Mouse only
251260	Nijmegen Breakage Syndrome	Ataxia-Telangiectasia Variant V1; AT-V1|Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies|NBS|Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence|Seemanova Syndrome II	Tg(CD19-cre/ERT2)1Cgn	MGI:3037897		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(CD2-cre)4Kio	MGI:2449946		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(CD2-Lmo2)#Thr	MGI:4889197		Mouse only
603165	Dermatitis, Atopic	ATOD	Tg(CD2-Stat6*V625A*T626A)78Mhk	MGI:3845900		Mouse only
135150	Birt-Hogg-Dube Syndrome; BHD	Fibrofolliculomas with Trichodiscomas and Acrochordons	Tg(Cdh16-cre)91Igr	MGI:2665302		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Cdh16-cre)91Igr	MGI:2665302		Mouse only
116860	Cerebral Cavernous Malformations; CCM	Cavernous Angioma, Familial|Cavernous Angiomatous Malformations; CAM	Tg(Cdh5-cre/ERT2)1Rha	MGI:3848980		Mouse only
603284	Cerebral Cavernous Malformations 2; CCM2		Tg(Cdh5-cre/ERT2)1Rha	MGI:3848980		Mouse only
603285	Cerebral Cavernous Malformations 3; CCM3		Tg(Cdh5-cre/ERT2)1Rha	MGI:3848980		Mouse only
613659	Gastric Cancer		Tg(CEACAM5-Tag)L5496Wzm	MGI:2652507		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(Cebpb-tTA)5Bjd	MGI:3056822		Mouse only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Tg(Cebpb-tTA)5Bjd	MGI:3056822		Mouse only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Tg(Cga-cre)3Sac	MGI:2180056		Mouse only
147421	Inclusion Body Myositis	IBM	Tg(Ckm-APPSw)A2Lfa	MGI:3720793		Mouse only
147421	Inclusion Body Myositis	IBM	Tg(Ckm-APPSw)A6Lfa	MGI:3720794		Mouse only
105120	Amyloidosis, Finnish Type	Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy|Amyloidosis V|Amyloidosis, Meretoja Type	Tg(Ckm-GSN*D187N)AJewe	MGI:4353752		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tg(Ckm-IGF1R*K1003R)1Dlr	MGI:3842763		Mouse only
607801	Muscular Dystrophy, Limb-Girdle, Type 1C; LGMD1C		Tg(Ckmm-Cav3)1Ysu	MGI:3621120		Mouse only
229300	Friedreich Ataxia 1; FRDA	FRDA1	Tg(Ckmm-cre)1Lrsn	MGI:2177172		Mouse only
530000	Kearns-Sayre Syndrome; KSS	Chronic Progressive External Ophthalmoplegia with Myopathy|CPEO with Myopathy|CPEO with Ragged-Red Fibers|Mitochondrial Cytopathy|Oculocraniosomatic Syndrome|Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy|Ophthalmoplegia, Progressive External, with Ragged-Red Fibers|Ophthalmoplegia-Plus Syndrome	Tg(Ckmm-cre)1Lrsn	MGI:2177172		Mouse only
232600	Glycogen Storage Disease V	Gsd V; GSD5|Mcardle Disease|Muscle Glycogen Phosphorylase Deficiency|Myophosphorylase Deficiency|PYGM Deficiency	Tg(Ckmm-cre)5Khn	MGI:2182093		Mouse only
232800	Glycogen Storage Disease VII	Gsd VII; GSD7|Muscle Phosphofructokinase Deficiency|PFKM Deficiency|Tarui Disease	Tg(Ckmm-cre)5Khn	MGI:2182093		Mouse only
608807	Muscular Dystrophy, Limb-Girdle, Type 2J; LGMD2J		Tg(Ckmm-cre)5Khn	MGI:2182093		Mouse only
608931	Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Type ID; CMS1D	Tg(Ckmm-cre)5Khn	MGI:2182093		Mouse only
154800	Mast Cell Disease		Tg(Cma1-cre)ARoer	MGI:3784997		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(CMV-ATXN3*94Q)94Pama	MGI:4822569		Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Tg(CMV-cre)1Cgn	MGI:2176179		Mouse only
300068	Androgen Insensitivity Syndrome; AIS	Androgen Receptor Deficiency|AR Deficiency|DHTR Deficiency|Dihydrotestosterone Receptor Deficiency|Testicular Feminization Syndrome; TFM	Tg(CMV-cre)1Ipc	MGI:2177164		Mouse only
601665	Obesity		Tg(CMV-cre)1Ipc	MGI:2177164		Mouse only
205400	Tangier Disease; TGD	Analphalipoproteinemia|High Density Lipoprotein Deficiency, Tangier Type|High Density Lipoprotein Deficiency, Type 1; HDLDT1	Tg(CMV-EGFP,Rnu6-siAbca1)#Wcyy	MGI:3510913		Mouse only
604757	Craniosynostosis, Type 2; CRS2	Craniosynostosis, Boston-Type; CSB	Tg(CMV-Msx2*P7H)1Rem	MGI:3762248		Mouse only
137760	Glaucoma, Primary Open Angle; POAG		Tg(CMV-MYOC*Y437H)#Vcs	MGI:5302111		Mouse only
304020	Cone-Rod Dystrophy, X-Linked, 1; CORDX1	Cone Dystrophy 1, X-Linked; COD1	Tg(CMV-Rpgr)1Tili	MGI:3038635		Mouse only
128100	Dystonia 1, Torsion, Autosomal Dominant; DYT1	Dystonia Musculorum Deformans 1|Early-Onset Torsion Dystonia; EOTD	Tg(CMV-TOR1A*)1Nush	MGI:3832907		Mouse only
128100	Dystonia 1, Torsion, Autosomal Dominant; DYT1	Dystonia Musculorum Deformans 1|Early-Onset Torsion Dystonia; EOTD	Tg(CMV-TOR1A*)2Nush	MGI:3832912		Mouse only
166200	Osteogenesis Imperfecta, Type I	OI, Type I|Oi1|Osteogenesis Imperfecta Tarda	Tg(COL1A1)73Prc	MGI:3766094		Mouse only
181750	Scleroderma, Familial Progressive		Tg(Col1a2-cre/ERT)7Cpd	MGI:3785759		Mouse only
183900	Spondyloepiphyseal Dysplasia Congenita; SEDC	SED Congenita|Spondyloepiphyseal Dysplasia, Congenital Type	Tg(Col2a1*R789C)#Waho	MGI:4940991		Mouse only
114290	Campomelic Dysplasia	Cmd1; CMPD1|CMPD	Tg(Col2a1-cre)1Bhr	MGI:2176069		Mouse only
187601	Thanatophoric Dysplasia, Type II; TD2	Cloverleaf Skull with Thanatophoric Dwarfism|Thanatophoric Dysplasia with Kleeblattschaedel|Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull	Tg(Col2a1-cre)1Bhr	MGI:2176069		Mouse only
133700	Exostoses, Multiple, Type I	Diaphyseal Aclasis|EXT; EXT1|Multiple Cartilaginous Exostoses|Multiple Osteochondromas|Osteochondromatosis	Tg(Col2a1-cre/ERT)KA3Smac	MGI:3665434		Mouse only
156400	Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type	Tg(Col2a1-PTHLH)1Ecw	MGI:2388103		Mouse only
156400	Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type	Tg(Col2a1-PTHR1*H223R)AHju	MGI:3584002		Mouse only
156400	Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type	Tg(Col2a1-PTHR1*H223R)BHju	MGI:3584003		Mouse only
177170	Pseudoachondroplasia; PSACH	Pseudoachondroplastic Dysplasia|Spondyloepiphyseal Dysplasia, Pseudoachondroplastic	Tg(Col2a1-rtTA,tetO-COMP*)2Jath	MGI:4361024		Mouse only
219080	Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH	Acth-Independent Cushing Syndrome|Acth-Independent Macronodular Adrenocortical Hyperplasia|Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia|Corticotropin-Independent Macronodular Adrenal Hyperplasia|Cushing Syndrome, Adrenal, Due to Aimah	Tg(Crh)227.1Pbl	MGI:3055441		Mouse only
601665	Obesity		Tg(Crh)227.1Pbl	MGI:3055441		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Cryaa-TAg)1Ove	MGI:3576673		Mouse only
612259	Inflammatory Bowel Disease 16; IBD16		Tg(Csf1r-Tnfsf15,-EGFP)#Targ	MGI:4943324		Mouse only
604348	Advanced Sleep-Phase Syndrome, Familial	FASPS	Tg(CSNK1D*)816Yfu	MGI:3837571		Mouse only
604348	Advanced Sleep-Phase Syndrome, Familial	FASPS	Tg(CSNK1D*)827Yfu	MGI:3837570		Mouse only
139300	Aromatase Excess Syndrome; AEXS		Tg(Cyp19)C2-3Rrte	MGI:2450860		Mouse only
128230	Dystonia, Dopa-Responsive; DRD	Dopa-Responsive Dystonia, Autosomal Dominant|Dystonia 5; DYT5|Dystonia, Dopa-Responsive, Autosomal Dominant|Dystonia, Progressive, with Diurnal Variation|Dystonia-Parkinsonism with Diurnal Fluctuation|Segawa Syndrome, Autosomal Dominant	Tg(DBH-PTS)6Csic	MGI:3813869		Mouse only
160900	Myotonic Dystrophy 1; DM1	Dystrophia Myotonica 1|Dystrophia Myotonica; DM|Steinert Disease	Tg(DM15)26Bew	MGI:3054421		Mouse only
104300	Alzheimer Disease; AD		Tg(DMD-APP*)18Neve	MGI:3720648		Mouse only
104300	Alzheimer Disease; AD		Tg(DMD-APP*)7Neve	MGI:3720647		Mouse only
147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	Hies, Autosomal Dominant|Hyper-Ige Syndrome, Autosomal Dominant|Job Syndrome	Tg(DO11.10)10Dlo	MGI:2664401		Mouse only
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS	Tg(DRD1-ctxA)7Burt	MGI:3778285		Mouse only
164230	Obsessive-Compulsive Disorder; OCD		Tg(DRD1-ctxA)7Burt	MGI:3778285		Mouse only
125400	Dentin Dysplasia, Type I; DTDP1	Dentin Dysplasia, Shields Type I|Rootless Teeth	Tg(Dspp-TGFB1)3Kul	MGI:3828144		Mouse only
125420	Dentin Dysplasia, Type II	Anomalous Dysplasia of Dentin|Coronal Dentin Dysplasia|Dentin Dysplasia, Shields Type II|DTDP2|Pulp Stones|Pulpal Dysplasia	Tg(Dspp-TGFB1)3Kul	MGI:3828144		Mouse only
190685	Down Syndrome		Tg(DYRK1A)36Wjs	MGI:4867505		Mouse only
101200	Apert Syndrome	Acrocephalosyndactyly, Type I; ACS1	Tg(EIIa-cre)C5379Lmgd	MGI:2137685		Mouse only
309801	Microphthalmia, Syndromic 7; MCOPS7	Microphthalmia with Linear Skin Defects; MLS|Microphthalmia, Dermal Aplasia, and Sclerocornea|Midas Syndrome	Tg(EIIa-cre)C5379Lmgd	MGI:2137685		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(Ela1-TAg)18Bri	MGI:3621125		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(Ela1-TAg)19Bri	MGI:3621127		Mouse only
167800	Pancreatitis, Hereditary; PCTT	HP|HPC	Tg(Ela2a-Prss1*,GFP)1Dbs	MGI:3832829		Mouse only
254500	Myeloma, Multiple		Tg(Emu-FGFR3)A5Wmk	MGI:4819002		Mouse only
254500	Myeloma, Multiple		Tg(Emu-FGFR3)D3Wmk	MGI:4819003		Mouse only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Tg(Eno2-ATN1)14Tx	MGI:4360678		Mouse only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Tg(Eno2-ATN1)3Tx	MGI:4360676		Mouse only
229300	Friedreich Ataxia 1; FRDA	FRDA1	Tg(Eno2-cre)39Jme	MGI:2177174		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(Eno2-cre)39Jme	MGI:2177174		Mouse only
609260	Charcot-Marie-Tooth Disease, Axonal, Type 2A2; CMT2A2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2|Charcot-Marie-Tooth Disease, Neuronal, Type 2A2|Charcot-Marie-Tooth Neuropathy, Type 2A2|Hereditary Motor and Sensory Neuropathy Iia2; HMSN2A2|HMSN IIA2	Tg(Eno2-MFN2*R94Q)L51Ugfm	MGI:4440921		Mouse only
104300	Alzheimer Disease; AD		Tg(Eno2-PSEN2)2348Ykk	MGI:5052115		Mouse only
104300	Alzheimer Disease; AD		Tg(Eno2-PSEN2*)1480Ykk	MGI:5052117		Mouse only
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Tg(Eno2-Scn2a1*)Q54Mm	MGI:3793790		Mouse only
128100	Dystonia 1, Torsion, Autosomal Dominant; DYT1	Dystonia Musculorum Deformans 1|Early-Onset Torsion Dystonia; EOTD	Tg(Eno2-TOR1A*)13Shas	MGI:4838204		Mouse only
109800	Bladder Cancer		Tg(Fabp1-cre)1Jig	MGI:2447210		Mouse only
114500	Colorectal Cancer; CRC	Colon Cancer	Tg(Fabp1-cre)1Jig	MGI:2447210		Mouse only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Tg(Fabp4-Hsd11b1)7Jesf	MGI:3622477		Mouse only
151660	Lipodystrophy, Familial Partial, Type 2; FPLD2	FPL2|Lipoatrophic Diabetes|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Reverse Partial	Tg(Fabp4-LMNA*R482Q)11ACdl	MGI:4454327		Mouse only
151660	Lipodystrophy, Familial Partial, Type 2; FPLD2	FPL2|Lipoatrophic Diabetes|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Reverse Partial	Tg(Fabp4-LMNA*R482Q)17CCdl	MGI:4454329		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Fabp7-cre)2Gtm	MGI:3810646		Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tg(FCGR2A)11Mkz	MGI:3056730		Mouse only
229300	Friedreich Ataxia 1; FRDA	FRDA1	Tg(FXN)YG8Pook	MGI:3797738		Mouse only
159595	Myeloproliferative Syndrome, Transient	Leukemia, Transient|MST|Transient Abnormal Myelopoiesis; TAM	Tg(Gata1*)#Mym	MGI:4450914		Mouse only
313900	Thrombocytopenia 1; THC1	THC|Thrombocytopenia, X-Linked; XLT	Tg(Gata1*V205G)1Mym	MGI:5295639		Mouse only
194200	Wolff-Parkinson-White Syndrome		Tg(GATA6-cre)#Jbeb	MGI:3663688		Mouse only
224700	Ebstein Anomaly		Tg(GATA6-cre)#Jbeb	MGI:3663688		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Gcg-cre)1Slib	MGI:3844014		Mouse only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Tg(Gdf5-cre-ALPP)1Kng	MGI:3577947		Mouse only
203450	Alexander Disease		Tg(GFAP)10Mes	MGI:3581778		Mouse only
203450	Alexander Disease		Tg(GFAP)7Mes	MGI:3581786		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(GFAP-cre)#Gtm	MGI:3696795		Mouse only
164200	Oculodentodigital Dysplasia; ODDD	Oculodentoosseous Dysplasia; ODOD|ODD Syndrome	Tg(GFAP-cre)1Kdmc	MGI:3655845		Mouse only
158350	Cowden Disease; CD	Cowden Syndrome; CS	Tg(Gfap-cre)1Sbk	MGI:2448663		Mouse only
155255	Medulloblastoma; MDB		Tg(GFAP-cre)25Mes	MGI:2179047		Mouse only
603285	Cerebral Cavernous Malformations 3; CCM3		Tg(GFAP-cre)25Mes	MGI:2179047		Mouse only
155255	Medulloblastoma; MDB		Tg(Gfap-cre)2Brn	MGI:2671944		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Gfap-cre)77.6Mvs	MGI:3838839		Mouse only
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Tg(GFAP-cre)8Gtm	MGI:2656244		Mouse only
203450	Alexander Disease		Tg(Gfap-GFAP*R239H)60TMIke	MGI:3809242		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(GFAP-HTT*160Q)1Xjl	MGI:4429153		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(GFAP-HTT*160Q)31Xjl	MGI:4437301		Mouse only
104300	Alzheimer Disease; AD		Tg(Gfap-TGFB1)64Lms	MGI:3717675		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tg(Gfap-TNF*)K21Gkl	MGI:3766211		Mouse only
155255	Medulloblastoma; MDB		Tg(GFAP-tTA)67Pop	MGI:4355878		Mouse only
176807	Prostate Cancer		Tg(Ggamma-T)15Cps	MGI:3039899		Mouse only
173900	Polycystic Kidney Disease 1; PKD1		Tg(Ggt1-cre)M3Egn	MGI:3811270		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Ggt1-Hif1a*)43Log	MGI:5298018		Mouse only
104300	Alzheimer Disease; AD		Tg(GSK3B*S9A)1Vln	MGI:3722094		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(H2-Ea-G6pc2)69Tkay	MGI:3790747		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(H2-Ea-Ins2)1Wehi	MGI:3590214		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(H2-Ea<d>)12Lt	MGI:3052552		Mouse only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial	Tg(H2-K-Fosl2,EGFP)13Wag	MGI:3813492		Mouse only
176620	Priapism, Familial Idiopathic		Tg(HBA-HBBs)41Paz	MGI:3056734		Mouse only
603903	Sickle Cell Anemia		Tg(HBA-HBBs)41Paz	MGI:3056734		Mouse only
166950	Teratoma, Ovarian	Dermoid Cyst, Ovarian	Tg(HBA1-Gfp)1Ew	MGI:3586532		Mouse only
603903	Sickle Cell Anemia		Tg(HBB-AR-HBA2,-HBB*)58Rub	MGI:4411996		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HD)63Aron	MGI:3057176		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HD82Gln)81Dbo	MGI:2670664		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HDexon1)61Gpb	MGI:2653600		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HDexon1)62Gpb	MGI:2653601		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(HLA-A/H2-D/B2M)1Dvs	MGI:3711051		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(HLA-DQA1,HLA-DQB1)1Dv	MGI:3586631		Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tg(HLA-DRA*0101,HLA-DRB1*0101)1Dmz	MGI:3809473		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(HLA-DRB1)31Dmz	MGI:3529463		Mouse only
104300	Alzheimer Disease; AD		Tg(Hmgcr-PSEN1*M146L)#Lpr	MGI:5003457		Mouse only
130700	Emphysema, Hereditary Pulmonary		Tg(HP-MMP1a)34-1Cha	MGI:4830475		Mouse only
210900	Bloom Syndrome; BLM	BS; BLS	Tg(Hsp70-1-cre)6Arge	MGI:2447239		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HTT*)1Xwy	MGI:4438235		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HTT*/EGFP)150Nn	MGI:5052378		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HTT*/EGFP)190Nn	MGI:5052376		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(HTT*97Q)IXwy	MGI:3800752		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(Htt-ATXN3*148Q)3746Thsc	MGI:4429400		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Igh-6/Igh-V125)2Jwt	MGI:3526722		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Igh-6/Igh-V281)3Jwt	MGI:3056940		Mouse only
176270	Prader-Willi Syndrome; PWS		Tg(Igh-Lmp2a)13FRdni	MGI:3769683		Mouse only
254500	Myeloma, Multiple		Tg(Igh-Maf)524Staka	MGI:4939023		Mouse only
254500	Myeloma, Multiple		Tg(Igh-Maf)68Staka	MGI:4939024		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Tg(Igh-Mir29a,-Mir29b-1,-hrGFP)#Cro	MGI:4820815		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Tg(Igh-TCL1A)1Ypek	MGI:4850006		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tg(Igh-V-CD40lg)#Tsub	MGI:4461028		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Tg(Igh-V186.2-TCL1A)3Cro	MGI:3841582		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Igh-VB1-8/Igh-6m)1Mjsk	MGI:3578636		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(IghelMD4)4Ccg	MGI:3053738		Mouse only
113970	Burkitt Lymphoma; BL		Tg(IghMyc)22Bri	MGI:2448238		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Igk-C/Igk-V125)1Jwt	MGI:3057120		Mouse only
113970	Burkitt Lymphoma; BL		Tg(IGL-MYC)3Hm	MGI:2673278		Mouse only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Tg(Il1rn)1Dih	MGI:3573759		Mouse only
125852	Diabetes Mellitus, Insulin-Dependent, 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2	Tg(Ins-Igf2)1Fbos	MGI:3818711		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(INS-Il10)#Sar	MGI:3622648		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(INS-MT2A,Tyr)1Pne	MGI:3043842		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(INS-SOD2)3Pne	MGI:3576515		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins1-Cat,Tyr)25Pne	MGI:3043841		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2*Y16A)1Ell	MGI:3576357		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2*Y16A)3Ell	MGI:3576271		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-CALM1)26Ove	MGI:3576671		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-CD80)3B7Flv	MGI:3046790		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-CD86)12B70Flv	MGI:3764557		Mouse only
131100	Multiple Endocrine Neoplasia, Type I; MEN1	Endocrine Adenomatosis, Multiple|MEA I|MEN I	Tg(Ins2-cre)23Herr	MGI:4431238		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-cre)23Herr	MGI:4431238		Mouse only
222300	Wolfram Syndrome 1; WFS1	Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness; DIDMOAD|WFS	Tg(Ins2-cre)23Herr	MGI:4431238		Mouse only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Tg(Ins2-cre)23Herr	MGI:4431238		Mouse only
125850	Maturity-Onset Diabetes of the Young, Type 1; MODY1	Mild Juvenile Diabetes Mellitus|Mody, Type 1	Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
125851	Maturity-Onset Diabetes of the Young, Type 2; MODY2	Mody, Type 2	Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(Ins2-cre)25Mgn	MGI:2176225		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-Fas*I246N)1Ach	MGI:3662912		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-Fasl)24Ach	MGI:2385759		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-GP)34-20Olds	MGI:3573698		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-HA)165Bri	MGI:2680174		Mouse only
600496	Maturity-Onset Diabetes of the Young, Type 3; MODY3	Mody, Type 3	Tg(Ins2-Hnf1a)#Cbw	MGI:4942178		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-Nos2)31Okam	MGI:3706436		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-Nos2)40Okam	MGI:3706437		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Ins2-NP)25-3Olds	MGI:3531505		Mouse only
600496	Maturity-Onset Diabetes of the Young, Type 3; MODY3	Mody, Type 3	Tg(Ins2-TCF1*P291)2Kya	MGI:3603404		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(Ipf1-cre)1Tuv	MGI:3029979		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(ITGAM-cre)2781Gkl	MGI:3629089		Mouse only
606438	Huntington Disease-Like 2; HDL2		Tg(JPH3*)CXwy	MGI:5052362		Mouse only
606438	Huntington Disease-Like 2; HDL2		Tg(JPH3-GFP,-JPH3*)GXwy	MGI:5052364		Mouse only
209500	Atrichia with Papular Lesions; APL	Papular Atrichia	Tg(K6ODCtr)55Tgo	MGI:1930205		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Kdr-AGER)102Hyam	MGI:3696981		Mouse only
610048	Corneal Dystrophy, Congenital Stromal; CSCD	Congenital Stromal Corneal Dystrophy	Tg(Kera-cre)KC4.3Wwk	MGI:3849604		Mouse only
180500	Axenfeld-Rieger Syndrome, Type 1; RIEG1	RGS|RIEG|Rieger Syndrome, Type 1	Tg(Kera-PITX2*A)AHjal	MGI:3851132		Mouse only
180500	Axenfeld-Rieger Syndrome, Type 1; RIEG1	RGS|RIEG|Rieger Syndrome, Type 1	Tg(Kera-PITX2*A)BHjal	MGI:3851244		Mouse only
154800	Mast Cell Disease		Tg(Kit*D814V)1Roer	MGI:4942354		Mouse only
154800	Mast Cell Disease		Tg(Kit*D814V)2Roer	MGI:4942355		Mouse only
154800	Mast Cell Disease		Tg(Kit*D814V)3Roer	MGI:4942356		Mouse only
226600	Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB	Dystrophic Epidermolysis Bullosa, Autosomal Recessive	Tg(KRT14-COL7A1*)1Shzu	MGI:4417892		Mouse only
158350	Cowden Disease; CD	Cowden Syndrome; CS	Tg(KRT14-cre)#Smr	MGI:3813244		Mouse only
603165	Dermatitis, Atopic	ATOD	Tg(KRT14-cre)1Efu	MGI:1926453		Mouse only
175200	Peutz-Jeghers Syndrome; PJS	Polyposis, Hamartomatous Intestinal|Polyps-And-Spots Syndrome	Tg(KRT14-cre)1Ipc	MGI:2177412		Mouse only
242500	Ichthyosis Congenita, Harlequin Fetus Type	'Harlequin Fetus'|Harlequin Ichthyosis	Tg(KRT14-cre)1Ipc	MGI:2177412		Mouse only
114480	Breast Cancer		Tg(KRT14-cre)8Brn	MGI:2177242		Mouse only
230900	Gaucher Disease, Type II	Gaucher Disease, Acute Neuronopathic Type|GD II	Tg(KRT14-cre)8Brn	MGI:2177242		Mouse only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Tg(KRT14-cre)8Brn	MGI:2177242		Mouse only
131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type	Ebs-Dm|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type	Tg(KRT14-cre/PGR)1Der	MGI:2447650		Mouse only
613659	Gastric Cancer		Tg(Krt19-Ptgs2,Krt19-Ptges)8Tko	MGI:4361181		Mouse only
613659	Gastric Cancer		Tg(Krt19-Wnt1)2Maos	MGI:4361182		Mouse only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Tg(KRT5-Akt1*)Jmpa	MGI:3842825		Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tg(KRT5-cre)1Tak	MGI:1926776		Mouse only
131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type	Ebs-Dm|Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type	Tg(KRT5-cre/PGR)1Der	MGI:2651407		Mouse only
603935	Psoriasis Susceptibility 4; PSORS4		Tg(KRT5-rtTA)#Glk	MGI:4867435		Mouse only
176670	Hutchinson-Gilford Progeria Syndrome; HGPS		Tg(KRT5-tTA)1216Glk	MGI:3583787		Mouse only
603165	Dermatitis, Atopic	ATOD	Tg(KRT5-tTA)1216Glk	MGI:3583787		Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Tg(Lck-cre)#Zhu	MGI:3054842		Mouse only
607271	CASPase 8 Deficiency	Autoimmune Lymphoproliferative Syndrome, Type IIB; ALPS2B	Tg(Lck-cre)548Jxm	MGI:2176198		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(Lck-LMO1)11Sjk	MGI:4819170		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Tg(Lck-TNFSF13)3919Mhah	MGI:4850028		Mouse only
612259	Inflammatory Bowel Disease 16; IBD16		Tg(Lck-Tnfsf15,-EGFP)#Targ	MGI:4943325		Mouse only
603903	Sickle Cell Anemia		Tg(LCR-HBA2,LCR-HBB)11Cos	MGI:3795461		Mouse only
114480	Breast Cancer		Tg(LGB-cre)74Acl	MGI:2137690		Mouse only
210900	Bloom Syndrome; BLM	BS; BLS	Tg(LGB-cre)74Acl	MGI:2137690		Mouse only
604219	Cataract, Autosomal Dominant		Tg(Lim2*G15V)1Rlc	MGI:3606781		Mouse only
607060	Parkinson Disease 8, Autosomal Dominant; PARK8		Tg(Lrrk2*G2019S)2Yue	MGI:4437434		Mouse only
607060	Parkinson Disease 8, Autosomal Dominant; PARK8		Tg(LRRK2*R1441G)135Cjli	MGI:3847808		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(Ly6a-BCR/ABL1)IS1AIsg	MGI:3834459		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(Ly6a-BCR/ABL1)IS1BIsg	MGI:3834460		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(Ly6a-TK,-BCR/ABL1)IS9AIsg	MGI:3834478		Mouse only
104300	Alzheimer Disease; AD		Tg(MAPT)8cPdav	MGI:3057130		Mouse only
104300	Alzheimer Disease; AD		Tg(Mapt-MAPT*)#Hanr	MGI:5052110		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tg(Mbp-Pad2)28Fgm	MGI:4459093		Mouse only
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS	Tg(mI56i-cre,EGFP)1Kc	MGI:3609984		Mouse only
308350	Epileptic Encephalopathy, Early Infantile, 1; EIEE1	Infantile Epileptic-Dyskinetic Encephalopathy|Infantile Spasm Syndrome, X-Linked 1; ISSX1|Ohtahara Syndrome, X-Linked|West Syndrome, X-Linked|Xmesid	Tg(mI56i-cre,EGFP)1Kc	MGI:3609984		Mouse only
611015	Autism, Susceptibility to, 9; AUTS9		Tg(mI56i-cre,EGFP)1Kc	MGI:3609984		Mouse only
114480	Breast Cancer		Tg(MMTV-AURKA)#Cxd	MGI:3836146		Mouse only
114480	Breast Cancer		Tg(MMTV-cre)4Mam	MGI:2176163		Mouse only
158350	Cowden Disease; CD	Cowden Syndrome; CS	Tg(MMTV-cre)4Mam	MGI:2176163		Mouse only
173900	Polycystic Kidney Disease 1; PKD1		Tg(MMTV-cre)4Mam	MGI:2176163		Mouse only
114480	Breast Cancer		Tg(MMTV-cre)7Mul	MGI:3589277		Mouse only
114480	Breast Cancer		Tg(MMTV-Erbb2*,-cre)1Mul	MGI:4361015		Mouse only
114480	Breast Cancer		Tg(MMTV-ERBB2*,-luc)6157Aami	MGI:5013908		Mouse only
114480	Breast Cancer		Tg(MMTV-Myc)141-3Led	MGI:3038956		Mouse only
114480	Breast Cancer		Tg(MMTV-neu/OT-I/OT-II)CBnel	MGI:3761162		Mouse only
114480	Breast Cancer		Tg(MMTV-PyVT)634Mul	MGI:2679594		Mouse only
114480	Breast Cancer		Tg(MMTV-PyVT*Y250F)250-2Mul	MGI:3614258		Mouse only
114480	Breast Cancer		Tg(MMTV-PyVT*Y315F*Y322F)Db-1Mul	MGI:3614259		Mouse only
114480	Breast Cancer		Tg(MMTV-rtTA)1Lach	MGI:3511873		Mouse only
114480	Breast Cancer		Tg(MMTV-TGFBR2)7Hlm	MGI:3039368		Mouse only
114480	Breast Cancer		Tg(MMTVneu)202Mul	MGI:1930203		Mouse only
209850	Autism		Tg(Mov1/Tyr)OVE876BPay	MGI:5006854		Mouse only
605253	Neuropathy, Congenital Hypomyelinating	Charcot-Marie-Tooth Disease, Type 4E; CMT4E|Charcot-Marie-Tooth Neuropathy, Type 4E|Congenital Hypomyelinating Neuropathy; CHN|Hypomyelination, Severe Congenital	Tg(Mpz)80.2Wra	MGI:2653544		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Mpz-cre)94Imeg	MGI:2176595		Mouse only
176807	Prostate Cancer		Tg(Msmb-TAg)183-2Xuan	MGI:3574626		Mouse only
176807	Prostate Cancer		Tg(Msmb-TAg)186-3Xuan	MGI:3574627		Mouse only
604757	Craniosynostosis, Type 2; CRS2	Craniosynostosis, Boston-Type; CSB	Tg(Msx2)1Rem	MGI:1926369		Mouse only
187500	Tetralogy of Fallot; TOF		Tg(Msx2-cre)5Rem	MGI:2159108		Mouse only
268210	Rhabdomyosarcoma 1; RMS1	Rhabdomyosarcoma Chromosomal Region; RMSCR|Rhabdomyosarcoma, Embryonal, 1; RMSE1	Tg(Mt-HGFSF)18Lmb	MGI:2653472		Mouse only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM	Tg(Mt1-RET)304Ina	MGI:3039780		Mouse only
190685	Down Syndrome		Tg(MT1A-Dyrk1a)#Xest	MGI:3814564		Mouse only
190685	Down Syndrome		Tg(MT1A-Dyrk1a)33Xest	MGI:3814571		Mouse only
190685	Down Syndrome		Tg(MT1A-Dyrk1a)Xest	MGI:3814566		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(MtTGFA)42Lmb	MGI:2388995		Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
154800	Mast Cell Disease		Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
158350	Cowden Disease; CD	Cowden Syndrome; CS	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
187950	Thrombocythemia, Essential	Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
230800	Gaucher Disease, Type I	Acid Beta-Glucosidase Deficiency|Gaucher Disease, Noncerebral Juvenile|GBA Deficiency|GD I|Glucocerebrosidase Deficiency	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
251260	Nijmegen Breakage Syndrome	Ataxia-Telangiectasia Variant V1; AT-V1|Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies|NBS|Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence|Seemanova Syndrome II	Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
601626	Leukemia, Acute Myeloid; AML		Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
603284	Cerebral Cavernous Malformations 2; CCM2		Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
607785	Juvenile Myelomonocytic Leukemia; JMML		Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(Mx1-cre)1Cgn	MGI:2176072		Mouse only
613251	Cardiomyopathy, Familial Hypertrophic, 14; CMH14		Tg(Myh6*)131Lnwd	MGI:3793719		Mouse only
613251	Cardiomyopathy, Familial Hypertrophic, 14; CMH14		Tg(Myh6*)140Lnwd	MGI:3793720		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tg(Myh6-cre)2182Mds	MGI:2447636		Mouse only
194200	Wolff-Parkinson-White Syndrome		Tg(Myh6-cre)2182Mds	MGI:2447636		Mouse only
611528	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; ARVD12	Arrhythmogenic Right Ventricular Cardiomyopathy 12; ARVC12	Tg(Myh6-cre)2182Mds	MGI:2447636		Mouse only
601493	Cardiomyopathy, Dilated, 1C; CMD1C		Tg(Myh6-cre/Esr1*)1Jmk	MGI:3050446		Mouse only
611528	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12; ARVD12	Arrhythmogenic Right Ventricular Cardiomyopathy 12; ARVC12	Tg(Myh6-cre/Esr1*)1Jmk	MGI:3050446		Mouse only
608751	Cardiomyopathy, Familial Hypertrophic, 8; CMH8	Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1	Tg(Myh6-MYL2*D166V)1Dsc	MGI:3838171		Mouse only
600858	Cardiomyopathy, Familial Hypertrophic, 6; CMH6		Tg(Myh6-PRKAG2*N488I)4623Jse	MGI:3841152		Mouse only
194200	Wolff-Parkinson-White Syndrome		Tg(Myh6-PRKAG2*R302Q)#Rro	MGI:3688879		Mouse only
194200	Wolff-Parkinson-White Syndrome		Tg(Myh6-PRKAG2*R531G)22Dca	MGI:3688829		Mouse only
261740	Glycogen Storage Disease of Heart, Lethal Congenital	Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart	Tg(Myh6-PRKAG2*T400N)1Feah	MGI:4818885		Mouse only
160900	Myotonic Dystrophy 1; DM1	Dystrophia Myotonica 1|Dystrophia Myotonica; DM|Steinert Disease	Tg(Myh6-rtTA)8585Jam	MGI:3712950		Mouse only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tg(Myh6-Tnnt2)117Lnwd	MGI:3692591		Mouse only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tg(Myh6-Tnnt2)191Lnwd	MGI:3692594		Mouse only
601494	Cardiomyopathy, Dilated, 1D; CMD1D		Tg(Myh6-TNNT2*R141W)#Ajm	MGI:4819714		Mouse only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tg(Myh6-TNNT2*R92Q)#Ajm	MGI:4819713		Mouse only
115196	Cardiomyopathy, Familial Hypertrophic, 3; CMH3		Tg(Myh6-Tpm1*E180G)57Dfw	MGI:5007624		Mouse only
261740	Glycogen Storage Disease of Heart, Lethal Congenital	Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart	Tg(Myh6-tTA)55Rbns	MGI:3757879		Mouse only
261740	Glycogen Storage Disease of Heart, Lethal Congenital	Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart	Tg(Myh6/tetO-PRKAG2*N488I)1Chib	MGI:3841168		Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Tg(Myh7-Ptpn11*Q79R)11Rbns	MGI:3822031		Mouse only
115200	Cardiomyopathy, Dilated, 1A; CMD1A	Cardiomyopathy, Congestive|Cardiomyopathy, Dilated, with Conduction Defect 1; CDCD1|Cardiomyopathy, Familial Idiopathic|Cardiomyopathy, Idiopathic Dilated	Tg(Myh7-RARA/lacZ)30Mcco	MGI:3838146		Mouse only
530000	Kearns-Sayre Syndrome; KSS	Chronic Progressive External Ophthalmoplegia with Myopathy|CPEO with Myopathy|CPEO with Ragged-Red Fibers|Mitochondrial Cytopathy|Oculocraniosomatic Syndrome|Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy|Ophthalmoplegia, Progressive External, with Ragged-Red Fibers|Ophthalmoplegia-Plus Syndrome	Tg(Myhca-cre)1Lrsn	MGI:2177635		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(NEFH)200Jpj	MGI:2183652		Mouse only
607684	Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E	Charcot-Marie-Tooth Neuropathy, Type 2E	Tg(NEFL*E397K)#Milg	MGI:5140990		Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Tg(Nes-cre)1Atp	MGI:3687337		Mouse only
180200	Retinoblastoma; RB1	Rb	Tg(Nes-cre)1Atp	MGI:3687337		Mouse only
312750	Rett Syndrome; RTT	RTS	Tg(Nes-cre)1Atp	MGI:3687337		Mouse only
209850	Autism		Tg(Nes-cre)1Kag	MGI:2176221		Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
155255	Medulloblastoma; MDB		Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
219080	Acth-Independent Macronodular Adrenal Hyperplasia; AIMAH	Acth-Independent Cushing Syndrome|Acth-Independent Macronodular Adrenocortical Hyperplasia|Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia|Corticotropin-Independent Macronodular Adrenal Hyperplasia|Cushing Syndrome, Adrenal, Due to Aimah	Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
256000	Leigh Syndrome; LS		Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
256840	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive		Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
312750	Rett Syndrome; RTT	RTS	Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Tg(Nes-cre)1Kln	MGI:2176172		Mouse only
301040	Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX	Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type|ATR, Nondeletion Type|ATR-X Syndrome	Tg(Nes-cre)2472Pick	MGI:3528486		Mouse only
155255	Medulloblastoma; MDB		Tg(Neurod2-Smo*A1)199Jols	MGI:3830736		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(NFH)120Jpj	MGI:2183653		Mouse only
161200	Nail-Patella Syndrome; NPS	Fong Disease|NPS1|Onychoosteodysplasia|Turner-Kieser Syndrome	Tg(NPHS2-cre)295Lbh	MGI:2450360		Mouse only
220290	Deafness, Autosomal Recessive 1A; DFNB1A		Tg(Otog-cre)1Ugds	MGI:2671942		Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Tg(P0-Cre)1Gth	MGI:3039529		Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Tg(P0-Cre)2Gth	MGI:3047116		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Pax3-cre)1Joe	MGI:2176201		Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Tg(Pax3-cre)1Joe	MGI:2176201		Mouse only
604229	Peters Anomaly		Tg(Pax6-cre,GFP)1Pgr	MGI:3045750		Mouse only
180200	Retinoblastoma; RB1	Rb	Tg(Pax6-cre,GFP)2Pgr	MGI:3052668		Mouse only
301040	Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked; ATRX	Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type|ATR, Nondeletion Type|ATR-X Syndrome	Tg(Pax6-cre,GFP)2Pgr	MGI:3052668		Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Tg(Pax8-rtTA2S*M2)1Koes	MGI:3763914		Mouse only
176807	Prostate Cancer		Tg(Pbsn-Ar*E231G)7353Ng	MGI:3831139		Mouse only
176807	Prostate Cancer		Tg(Pbsn-cre)4Prb	MGI:2388169		Mouse only
176807	Prostate Cancer		Tg(Pbsn-IGF1*)5305Ng	MGI:3831170		Mouse only
176807	Prostate Cancer		Tg(Pbsn-MYC)6Key	MGI:2675928		Mouse only
176807	Prostate Cancer		Tg(Pbsn-TAg)15Tvd	MGI:3794203		Mouse only
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Tg(Pcp2-cre)2Mpin	MGI:2137514		Mouse only
300624	Fragile X Mental Retardation Syndrome	Fragile X Syndrome|Marker X Syndrome|Mental Retardation, X-Linked, Associated with Marxq28|X-Linked Mental Retardation and Macroorchidism	Tg(Pcp2-cre)2Mpin	MGI:2137514		Mouse only
300623	Fragile X Tremor/Ataxia Syndrome; FXTAS		Tg(Pcp2-FMR1*)1Dln	MGI:3848935		Mouse only
607136	Spinocerebellar Ataxia 17; SCA17	Huntington Disease-Like 4; HDL4	Tg(Pcp2-TBP*)69Hmhl	MGI:5142232		Mouse only
104300	Alzheimer Disease; AD		Tg(PDGFB-APPSwDutLon)46Lpr	MGI:5003452		Mouse only
104300	Alzheimer Disease; AD		Tg(PDGFB-APPSwInd)20Lms	MGI:3057146		Mouse only
104300	Alzheimer Disease; AD		Tg(PDGFB-APPSwInd)J9Lms	MGI:3717717		Mouse only
600116	Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2	Parkinson Disease, Juvenile, Autosomal Recessive; PDJ|Parkinsonism, Early-Onset, with Diurnal Fluctuation; EPDF	Tg(PDGFB-GPR37)20Ryot	MGI:3768568		Mouse only
104300	Alzheimer Disease; AD		Tg(PDGFB-PSEN1M146L)2Jhd	MGI:2448598		Mouse only
127750	Dementia, Lewy Body; DLB	Lewy Body Dementia	Tg(PDGFB-SNCA)4Ema	MGI:3528948		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(PDGFB-SNCA)4Ema	MGI:3528948		Mouse only
613643	Parkinson Disease 5, Autosomal Dominant; PARK5		Tg(PDGFB-UCHL1*I93M)HWada	MGI:5008737		Mouse only
114290	Campomelic Dysplasia	Cmd1; CMPD1|CMPD	Tg(Pdx1-cre)6Cvw	MGI:2177603		Mouse only
131100	Multiple Endocrine Neoplasia, Type I; MEN1	Endocrine Adenomatosis, Multiple|MEA I|MEN I	Tg(Pdx1-cre)89.1Dam	MGI:2684318		Mouse only
175200	Peutz-Jeghers Syndrome; PJS	Polyposis, Hamartomatous Intestinal|Polyps-And-Spots Syndrome	Tg(Pdx1-cre)89.1Dam	MGI:2684318		Mouse only
193300	Von Hippel-Lindau Syndrome; VHL		Tg(Pdx1-cre)89.1Dam	MGI:2684318		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(Pdx1-cre)89.1Dam	MGI:2684318		Mouse only
604348	Advanced Sleep-Phase Syndrome, Familial	FASPS	Tg(PER2*S662G)867Ljp	MGI:3837441		Mouse only
148210	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	KID Syndrome, Autosomal Dominant	Tg(Pgk1-cre)1Lni	MGI:2178049		Mouse only
164200	Oculodentodigital Dysplasia; ODDD	Oculodentoosseous Dysplasia; ODOD|ODD Syndrome	Tg(Pgk1-cre)1Lni	MGI:2178049		Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Tg(Pkd1)26Mtru	MGI:4437764		Mouse only
102700	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency	ADA-SCID|SCID Due to ADA Deficiency	Tg(PLADA)4118Rkmb	MGI:2683065		Mouse only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Tg(PLAT-cre)116Sdu	MGI:3052519		Mouse only
312080	Pelizaeus-Merzbacher Disease; PMD	Leukodystrophy, Hypomyelinating, 1; HLD1	Tg(Plp)66Kan	MGI:2388031		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tg(PLP1*)4Rsj	MGI:4459440		Mouse only
146500	Multiple System Atrophy; MSA		Tg(Plp1-SNCA)1Haa	MGI:3604006		Mouse only
612376	Acute Promyelocytic Leukemia; APL	Leukemia, Acute Promyelocytic	Tg(PML-RARA)556Kog	MGI:2673324		Mouse only
118220	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A	Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Hereditary Motor and Sensory Neuropathy IA; HMSN IA|HMSN1A	Tg(Pmp22)247Ueli	MGI:2388307		Mouse only
118220	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A	Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Hereditary Motor and Sensory Neuropathy IA; HMSN IA|HMSN1A	Tg(PMP22)C22Clh	MGI:2388171		Mouse only
118220	Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; CMT1A	Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1A|Charcot-Marie-Tooth Neuropathy, Type 1A|Hereditary Motor and Sensory Neuropathy IA; HMSN IA|HMSN1A	Tg(PMP22)C61Clh	MGI:4819407		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Ppp1r1b-HTT*)1Meeh	MGI:3813480		Mouse only
137440	Gerstmann-Straussler Disease; GSD	Amyloidosis, Cerebral, with Spongiform Encephalopathy|Cerebellar Ataxia, Progressive Dementia, and Amyloid Deposits in Cns|Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type|Gerstmann-Straussler-Scheinker Disease; GSSD|Prion Dementia	Tg(Prnp*A116V*M128V)1309Jama	MGI:4356191		Mouse only
123400	Creutzfeldt-Jakob Disease; CJD		Tg(Prnp*D177N*M128V)A21Rchi	MGI:3836987		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-APP)A-2Dbo	MGI:3696802		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-APP*)1Hmor	MGI:4818988		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-App/APPswe)E1-2Dbo	MGI:3696469		Mouse only
104300	Alzheimer Disease; AD		Tg(PRNP-APPSweInd)8Dwst	MGI:3590546		Mouse only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Tg(Prnp-ATN1)124Dbo	MGI:3831323		Mouse only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Tg(Prnp-ATN1)150Dbo	MGI:3831324		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(Prnp-ATXN3*79Q)#Hlw	MGI:4940058		Mouse only
606159	Neurodegeneration with Brain Iron Accumulation 3; NBIA3	Basal Ganglia Disease, Adult-Onset|Neuroferritinopathy	Tg(Prnp-FTL*)4Ruvi	MGI:3848964		Mouse only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Tg(Prnp-GFP/cre)1Blw	MGI:3044722		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Prnp-HTT*82Q)52Caro	MGI:5304694		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(Prnp-HTT*82Q,KRT14-EGFP)C63Dbo	MGI:5287242		Mouse only
117300	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis|Dementia, Familial Danish; FDD|Familial Danish Dementia|Heredopathia Ophthalmootoencephalica; HOOE	Tg(Prnp-ITM2B*)1Ruvi	MGI:4415605		Mouse only
117300	Cerebral Amyloid Angiopathy, Itm2b-Related, 2	Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis|Dementia, Familial Danish; FDD|Familial Danish Dementia|Heredopathia Ophthalmootoencephalica; HOOE	Tg(Prnp-ITM2B*)7Jckr	MGI:4452487		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-ITM2B/APP695*40)1Emcg	MGI:3710688		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-ITM2B/APP695*42)A12Emcg	MGI:3710685		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-MAPT)43Vle	MGI:3505723		Mouse only
104300	Alzheimer Disease; AD		Tg(Prnp-MAPT*P301L)JNPL3Hlmc	MGI:3604138		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Prnp-MAPT*P301L)JNPL3Hlmc	MGI:3604138		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(Prnp-SMN)92Ahmb	MGI:3774942		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Prnp-SNCA*A53T)23Mkle	MGI:3574080		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Prnp-SNCA*A53T)25Mkle	MGI:4942282		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Prnp-SNCA*A53T)83Vle	MGI:3057168		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo	MGI:4849841		Mouse only
612069	Amyotrophic Lateral Sclerosis 10, with or without Frontotemporal Dementia;		Tg(Prnp-TARDBP)4Jlel	MGI:4839651		Mouse only
612069	Amyotrophic Lateral Sclerosis 10, with or without Frontotemporal Dementia;		Tg(Prnp-TARDBP*A315T)23Jlel	MGI:4839652		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Prnp-TARDBP*A315T)95Balo	MGI:4358721		Mouse only
612069	Amyotrophic Lateral Sclerosis 10, with or without Frontotemporal Dementia;		Tg(Prnp-TARDBP*A315T)95Balo	MGI:4358721		Mouse only
607136	Spinocerebellar Ataxia 17; SCA17	Huntington Disease-Like 4; HDL4	Tg(Prnp-TBP*)105Xjl	MGI:3772698		Mouse only
607136	Spinocerebellar Ataxia 17; SCA17	Huntington Disease-Like 4; HDL4	Tg(Prnp-TBP*)71-16Xjl	MGI:3772770		Mouse only
607136	Spinocerebellar Ataxia 17; SCA17	Huntington Disease-Like 4; HDL4	Tg(Prnp-TBP*)71-27Xjl	MGI:3772769		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(Prnp-tTA)F959Sbp	MGI:2651601		Mouse only
605375	Epilepsy, Nocturnal Frontal Lobe, Type 3	ENFL3	Tg(Prnp-tTA)F959Sbp	MGI:2651601		Mouse only
600116	Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2	Parkinson Disease, Juvenile, Autosomal Recessive; PDJ|Parkinsonism, Early-Onset, with Diurnal Fluctuation; EPDF	Tg(Prp-GPR37)1Ryot	MGI:3768567		Mouse only
114290	Campomelic Dysplasia	Cmd1; CMPD1|CMPD	Tg(Prrx1-cre)1Cjt	MGI:2450928		Mouse only
127300	Leri-Weill Dyschondrosteosis; LWD		Tg(Prrx1-cre)1Cjt	MGI:2450928		Mouse only
249700	Langer Mesomelic Dysplasia; LMD	Dyschondrosteosis, Homozygous|Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type	Tg(Prrx1-cre)1Cjt	MGI:2450928		Mouse only
300373	Osteopathia Striata with Cranial Sclerosis; OSCS	Hyperostosis Generalisata with Striations	Tg(Prrx1-cre)1Cjt	MGI:2450928		Mouse only
104300	Alzheimer Disease; AD		Tg(PSEN1)5Dbo	MGI:2448609		Mouse only
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Tg(PSEN1)5Dbo	MGI:2448609		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(PSEN1)5Dbo	MGI:2448609		Mouse only
104300	Alzheimer Disease; AD		Tg(PSEN1dE9)S9Dbo	MGI:3618598		Mouse only
606889	Alzheimer Disease 4	Ad4|Alzheimer Disease, Familial, 4	Tg(PSEN1dE9)S9Dbo	MGI:3618598		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(PSEN1dE9)S9Dbo	MGI:3618598		Mouse only
104300	Alzheimer Disease; AD		Tg(PSEN1H163R)G9Btla	MGI:3693363		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(PSEN1H163R)G9Btla	MGI:3693363		Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Tg(Psp-Rbbp4)1Yoha	MGI:3818759		Mouse only
600110	Stargardt Disease 3; STGD3	Macular Dystrophy with Flecks, Type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant	Tg(RBP3-ELOVL4*)1Kzh	MGI:4360791		Mouse only
600110	Stargardt Disease 3; STGD3	Macular Dystrophy with Flecks, Type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant	Tg(RBP3-ELOVL4*)2Kzh	MGI:4360794		Mouse only
600110	Stargardt Disease 3; STGD3	Macular Dystrophy with Flecks, Type 3|Stargardt-Like Macular Dystrophy, Autosomal Dominant	Tg(RBP3-ELOVL4*)3Kzh	MGI:4360795		Mouse only
180200	Retinoblastoma; RB1	Rb	Tg(Rbp3-SV40)IT-2Jjw	MGI:2388174		Mouse only
268000	Retinitis Pigmentosa; RP		Tg(Rho)1Wbae	MGI:2686798		Mouse only
602093	Cone Dystrophy 3; COD3		Tg(Rho-GUCA1A*Y99C)L53Amd	MGI:4430103		Mouse only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Tg(RIP1-Tag)2Dh	MGI:2429940		Mouse only
248250	Hypomagnesemia 3, Renal; HOMG3	Hypomagnesemia, Isolated Renal|Hypomagnesemia, Primary, Due to Defect in Renal Tubular Transport of Magnesium	Tg(RNU6-RNAi:Cldn16)551Dago	MGI:3822349		Mouse only
239100	Hyperostosis Corticalis Generalisata	Endosteal Hyperostosis, Autosomal Recessive|Hyperphosphatasemia Tarda|Van Buchem Disease; VBCH	Tg(RP11-209M4)#Gglo	MGI:5304470		Mouse only
164500	Spinocerebellar Ataxia 7; SCA7	ADCA, Type II|Autosomal Dominant Cerebellar Ataxia, Type II|Olivopontocerebellar Atrophy III; OPCA3|OPCA III|OPCA with Macular Degeneration and External Ophthalmoplegia|OPCA with Retinal Degeneration	Tg(SCA7)c92QAls	MGI:2450855		Mouse only
211980	Lung Cancer		Tg(Scgb1a1-rtTA)1Jaw	MGI:2652186		Mouse only
219700	Cystic Fibrosis; CF	Mucoviscidosis	Tg(Scgb1a1-Scnn1b)6608Bouc	MGI:3605470		Mouse only
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Tg(Scn1a*)RH9Aesc	MGI:3851209		Mouse only
211980	Lung Cancer		Tg(SFTPC-EML4/ALK)502-4Hima	MGI:3834678		Mouse only
211980	Lung Cancer		Tg(SFTPC-env)1Yhch	MGI:4366149		Mouse only
130700	Emphysema, Hereditary Pulmonary		Tg(SFTPC-rtTA)5Jaw	MGI:2679530		Mouse only
303100	Choroideremia; CHM		Tg(Six3-cre)69Frty	MGI:3574770		Mouse only
600116	Parkinson Disease 2, Autosomal Recessive Juvenile; PARK2	Parkinson Disease, Juvenile, Autosomal Recessive; PDJ|Parkinsonism, Early-Onset, with Diurnal Fluctuation; EPDF	Tg(Slc6a3-PARK2*Q311X)AXwy	MGI:3845879		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN1*A2G)2023Ahmb	MGI:3033247		Mouse only
253400	Spinal Muscular Atrophy, Type III; SMA3	Kugelberg-Welander Syndrome; KWS|Muscular Atrophy, Juvenile|SMA III|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form	Tg(SMN1*A2G)2023Ahmb	MGI:3033247		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN2)11Tro	MGI:3832049		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN2)2Hung	MGI:3514027		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN2)46Tro	MGI:3832055		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN2)89Ahmb	MGI:2676918		Mouse only
253400	Spinal Muscular Atrophy, Type III; SMA3	Kugelberg-Welander Syndrome; KWS|Muscular Atrophy, Juvenile|SMA III|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form	Tg(SMN2)89Ahmb	MGI:2676918		Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Tg(SMN2*delta7)4299Ahmb	MGI:3056917		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(SNCA*A30P)1Nbm	MGI:4412056		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(SNCA*A30P)2Nbm	MGI:4412068		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(SNCA*A53T)1Nbm	MGI:4412062		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(SNCA*A53T)2Nbm	MGI:4412064		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*)125Dbo	MGI:4843142		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G127X)716Mrkl	MGI:5286584		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G37R)106Dpr	MGI:2183553		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G37R)1Dwc	MGI:3629225		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G37R)29Dpr	MGI:3573960		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G37R)42Dpr	MGI:3573957		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G37R)9Dpr	MGI:3573959		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G85R)148Dwc	MGI:2388294		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G85R)74Dwc	MGI:2388295		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Sod1*G86R)M1Jwg	MGI:2388296		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G93A)<dl>1Gur	MGI:2388297		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G93A)1Gur	MGI:2388308		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*G93A)2Gur	MGI:2388309		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*H46R)#Maw	MGI:5297586		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(SOD1*H46R*H48Q)58Dbo	MGI:3793783		Mouse only
602522	Bartter Syndrome, Type 4a		Tg(Sox10-cre)1Wdr	MGI:3586899		Mouse only
305600	Focal Dermal Hypoplasia; FDH	Fodh; DHOF|Goltz Syndrome|Goltz-Gorlin Syndrome	Tg(Sox2-cre)1Amc	MGI:2656537		Mouse only
608089	Endometrial Cancer		Tg(Sprr2f-cre)1Dcas	MGI:4438219		Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Tg(STIL-TAL1)A5(3)Alpa	MGI:4819171		Mouse only
205700	Anemia, Autoimmune Hemolytic		Tg(SV40-Igh-64C8)H3Hon	MGI:3813627		Mouse only
205700	Anemia, Autoimmune Hemolytic		Tg(SV40-Igk4C8)L1Hon	MGI:3813629		Mouse only
608516	Major Depressive Disorder; MDD		Tg(Syn1-ADCY7)11004Btab	MGI:3695125		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Syn1-cre)671Jxm	MGI:2176054		Mouse only
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Tg(Syn1-cre)671Jxm	MGI:2176054		Mouse only
125310	Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy; CADASIL	CASIL|Dementia, Hereditary Multi-Infarct Type	Tg(Tagln-cre)1Her	MGI:2450259		Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Tg(Tagln-cre)1Her	MGI:2450259		Mouse only
178600	Pulmonary Hypertension, Primary, 1; PPH1	PHT	Tg(Tagln-rtTA)E1Jwst	MGI:3703754		Mouse only
180200	Retinoblastoma; RB1	Rb	Tg(TagRb)1Plm	MGI:3040287		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(Tal1-tTA)19Dgt	MGI:3693323		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tg(Tbx1-cre)1Joe	MGI:3037844		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(Tcra/Tcrb)1Vbo	MGI:2680177		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tg(Tcra2D2,Tcrb2D2)1Kuch	MGI:3700835		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcraAI4)1Dvs	MGI:3497904		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcraBDC12-4.1)10Jos	MGI:3687035		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcraBDC2.5,TcrbBDC2.5)1Doi	MGI:3612117		Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tg(TcraR28,TcrbR28)KRNDim	MGI:3767249		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcraTcrbNY8.3)1Pesa	MGI:3584119		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcrbAI4)1Dvs	MGI:3497905		Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tg(TcrbBDC12-4.1)82Gse	MGI:3687033		Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Tg(Tek-cre)12Flv	MGI:2136409		Mouse only
181750	Scleroderma, Familial Progressive		Tg(Tek-cre)12Flv	MGI:2136409		Mouse only
230800	Gaucher Disease, Type I	Acid Beta-Glucosidase Deficiency|Gaucher Disease, Noncerebral Juvenile|GBA Deficiency|GD I|Glucocerebrosidase Deficiency	Tg(Tek-cre)12Flv	MGI:2136409		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tg(Tek-cre)1Ywa	MGI:2450309		Mouse only
211980	Lung Cancer		Tg(Tek-cre)1Ywa	MGI:2450309		Mouse only
104300	Alzheimer Disease; AD		Tg(tetO-APPSwInd)102Dbo	MGI:3708165		Mouse only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Tg(tetO-ATXN3)2904Olri	MGI:4410557		Mouse only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Tg(tetO-BCR/ABL1)2Dgt	MGI:3621056		Mouse only
178600	Pulmonary Hypertension, Primary, 1; PPH1	PHT	Tg(tetO-Bmpr2*R899X)#Jwst	MGI:4838757		Mouse only
176807	Prostate Cancer		Tg(tetO-BRAF*V600E)29Lc	MGI:3834719		Mouse only
605375	Epilepsy, Nocturnal Frontal Lobe, Type 3	ENFL3	Tg(tetO-Chrnb2*V287L)H3Gica	MGI:3843694		Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Tg(tetO-cre)LC1Bjd	MGI:2671943		Mouse only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Tg(tetO-Csnk1d)#Mfla	MGI:4452244		Mouse only
160900	Myotonic Dystrophy 1; DM1	Dystrophia Myotonica 1|Dystrophia Myotonica; DM|Steinert Disease	Tg(tetO-CUGBP1)3413Coop	MGI:4438034		Mouse only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Tg(tetO-DBT)525AGeh	MGI:3704918		Mouse only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Tg(tetO-DBT)A1Geh	MGI:3704901		Mouse only
114480	Breast Cancer		Tg(tetO-Esr1)#Paf	MGI:5296681		Mouse only
181500	Schizophrenia; SCZD		Tg(tetO-Gnas)1593Mpke	MGI:4843270		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(tetO-HTT*94Q,-lacZ)1Rhn	MGI:3851437		Mouse only
155255	Medulloblastoma; MDB		Tg(tetO-Ifng)184Pop	MGI:4355870		Mouse only
603165	Dermatitis, Atopic	ATOD	Tg(tetO-Il13)1Tazh	MGI:3850184		Mouse only
176670	Hutchinson-Gilford Progeria Syndrome; HGPS		Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer	MGI:3834664		Mouse only
104300	Alzheimer Disease; AD		Tg(tetO-MAPT*P301L)#Kha	MGI:4819832		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(tetO-MET)23Rwng	MGI:3810466		Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Tg(tetO-MYC)36aBop	MGI:4459071		Mouse only
607684	Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E	Charcot-Marie-Tooth Neuropathy, Type 2E	Tg(tetO-NEFL)173.2Jpj	MGI:4819092		Mouse only
211980	Lung Cancer		Tg(tetO-PIK3CA*H1047R)13Lca	MGI:3834438		Mouse only
130700	Emphysema, Hereditary Pulmonary		Tg(tetO-PLAGL2)P3Ysy	MGI:4360911		Mouse only
603935	Psoriasis Susceptibility 4; PSORS4		Tg(tetO-S100a7a)#Yus	MGI:4936854		Mouse only
127750	Dementia, Lewy Body; DLB	Lewy Body Dementia	Tg(tetO-SNCA*A53T)33Vle	MGI:5289951		Mouse only
256700	Neuroblastoma, Susceptibility to		Tg(tetO-TAg)2-5Hiwa	MGI:5292655		Mouse only
155255	Medulloblastoma; MDB		Tg(tetO-TAg,CMV-rtTA)123Yihu	MGI:3819431		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Th-cre)1Tmd	MGI:3584377		Mouse only
256700	Neuroblastoma, Susceptibility to		Tg(Th-MYCN)41Waw	MGI:2673317		Mouse only
168600	Parkinson Disease, Late-Onset; PD	Park	Tg(Th-SNCA*)1.2Ccs	MGI:3764733		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Th-SNCA*)1702Yosh	MGI:3757751		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APP)3Somm	MGI:2448181		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-APP)3Somm	MGI:2448181		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APP*)2.2Ingm	MGI:5294352		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APP<SL>)28Lpr	MGI:3510602		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(Thy1-APP<SL>)28Lpr	MGI:3510602		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-AppDutch)#Jckr	MGI:4438880		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APPLon)2Vln	MGI:3717495		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APPSw)10Jiri	MGI:4843218		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APPSw,Thy1-PSEN1*L166P)21Jckr	MGI:3765348		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APPSwDutIowa)BWevn	MGI:3721991		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-APPSwe,Prnp-PSEN2*N141I)152HLaoz	MGI:4412049		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-APPSwe,Prnp-PSEN2*N141I)152HLaoz	MGI:4412049		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-BACE1)16Vln	MGI:3722131		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-BACE1)54/4Ppa	MGI:4819390		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-cre)1Vln	MGI:2684622		Mouse only
607822	Alzheimer Disease 3	Ad3|Alzheimer Disease 3, Early-Onset	Tg(Thy1-cre)1Vln	MGI:2684622		Mouse only
149400	Hyperekplexia, Hereditary	Exaggerated Startle Reaction|Hyperexplexia, Hereditary|Kok Disease|Startle Disease, Familial|Startle Reaction, Exaggerated|STHE|Stiff-Baby Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Person Syndrome, Congenital	Tg(Thy1-GLRA1*R271Q)300Wha	MGI:5086224		Mouse only
608634	Neuronopathy, Distal Hereditary Motor, Type IIB; HMN2B	Dhmn2b|Hmn IIB|Neuropathy, Distal Hereditary Motor, Type IIB	Tg(Thy1-HSPB1*P182L)#Lvdb	MGI:5285197		Mouse only
606595	Charcot-Marie-Tooth Disease, Axonal, Type 2F; CMT2F	Charcot-Marie-Tooth Disease, Neuronal, Type 2F|Charcot-Marie-Tooth Neuropathy, Type 2F	Tg(Thy1-HSPB1*S135F)#Lvdb	MGI:5285196		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-MAPT)183Gotz	MGI:3621179		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-MAPT)183Gotz	MGI:3621179		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-MAPT)1Vln	MGI:3720110		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-MAPT)22Schd	MGI:3717228		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-MAPT)2Vln	MGI:3720111		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Thy1-MAPT*K369I)K3Gotz	MGI:3833375		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-MAPT*P301L)2Vln	MGI:3768526		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Thy1-MAPT*V337M)1Godt	MGI:3832876		Mouse only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	Tg(Thy1-PSEN1*G384A)45Jckr	MGI:4818997		Mouse only
104300	Alzheimer Disease; AD		Tg(Thy1-PSEN1*M146V,-APP*Swe)10Arte	MGI:4417911		Mouse only
604218	Encephalopathy, Familial, with Neuroserpin Inclusion Bodies; FENIB	Encephalopathy, Familial, with Collins Bodies	Tg(Thy1-SERPINI1*G392E)333Icka	MGI:3833387		Mouse only
168601	Parkinson Disease 1, Autosomal Dominant; PARK1	Parkinson Disease 1, Autosomal Dominant Lewy Body	Tg(Thy1-SNCA*A30P)18Pjk	MGI:2652211		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Thy1-SOD1*G93A)T1Hgrd	MGI:3785265		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Thy1-SOD1*G93A)T3Hgrd	MGI:3785089		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Thy1-TARDBP)4Singh	MGI:4438486		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Thy1-TARDBP)4Singh	MGI:4438486		Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Tg(Thy1-TARDBP)6Singh	MGI:4438487		Mouse only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Tg(Thy1-TARDBP)6Singh	MGI:4438487		Mouse only
607684	Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E	Charcot-Marie-Tooth Neuropathy, Type 2E	Tg(THY1-tTA)177Jpj	MGI:4819093		Mouse only
604757	Craniosynostosis, Type 2; CRS2	Craniosynostosis, Boston-Type; CSB	Tg(Timp1-Msx2*P7H)1Rem	MGI:3762247		Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tg(Tnf)6074Gkl	MGI:3766128		Mouse only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Tg(Tnfsf13b)1Fma	MGI:2450863		Mouse only
161950	Iga Nephropathy, Susceptibility to, 1; IGAN1	Berger Disease|IGAN|Nephritis, IgA Type	Tg(Tnfsf13b)1Fma	MGI:2450863		Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Tg(Tnfsf13b)1Fma	MGI:2450863		Mouse only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect	Tg(Tnnt2-cre)5Blh	MGI:2679082		Mouse only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tg(Tnnt2-TNNT2*R92Q)#Ajm	MGI:4819715		Mouse only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tg(Tnnt2-TNNT2*R92Q)M-2Ajm	MGI:4819717		Mouse only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Tg(Tpbpa-cre,-EGFP)5Jcc	MGI:5287871		Mouse only
188470	Thyroid Carcinoma, Follicular; FTC		Tg(TPO-cre)1Shk	MGI:3653643		Mouse only
176807	Prostate Cancer		Tg(TRAMP)8247Ng	MGI:2680364		Mouse only
114480	Breast Cancer		Tg(Trp53R172H)8512Jmr	MGI:1929640		Mouse only
300068	Androgen Insensitivity Syndrome; AIS	Androgen Receptor Deficiency|AR Deficiency|DHTR Deficiency|Dihydrotestosterone Receptor Deficiency|Testicular Feminization Syndrome; TFM	Tg(TSPY)9Jshm	MGI:3775643		Mouse only
105210	Amyloidosis, Hereditary, Transthyretin-Related	Hereditary Amyloidosis, Transthyretin-Related|Transthyretin Amyloidosis	Tg(TTR-V30M)15Imeg	MGI:3047091		Mouse only
160980	Carney Complex, Type 1; CNC1	Carney Myxoma-Endocrine Complex|Carney Syndrome; CAR|Lamb Syndrome|Myxoma, Spotty Pigmentation, and Endocrine Overactivity|Name Syndrome	Tg(Tyr-cre)3Gfk	MGI:3580516		Mouse only
155720	Melanoma, Uveal		Tg(Tyr-HRAS)60Lc	MGI:2675988		Mouse only
176807	Prostate Cancer		Tg(Tyr-rtTA)37Lc	MGI:3039789		Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tg(UcpDta)1Kz	MGI:2385505		Mouse only
162000	Hyperuricemic Nephropathy, Familial Juvenile, 1; HNFJ1	Familial Juvenile Hyperuricemic Nephropathy; FJHN|Gouty Nephropathy, Familial Juvenile|Hyperuricemic Nephropathy, Familial Juvenile; HNFJ|Nephropathy, Familial, with Gout	Tg(Umod*C147W)958Lura	MGI:4819112		Mouse only
603860	Medullary Cystic Kidney Disease 2; MCKD2	Medullary Cystic Kidney Disease 2, Autosomal Dominant; ADMCKD2	Tg(Umod*C147W)958Lura	MGI:4819112		Mouse only
109800	Bladder Cancer		Tg(UPII-SV40T)29Xrw	MGI:5141745		Mouse only
109800	Bladder Cancer		Tg(UPII-SV40T)2Xrw	MGI:3040303		Mouse only
211980	Lung Cancer		Tg(Upk2-cre)6Xrw	MGI:3583892		Mouse only
109800	Bladder Cancer		Tg(Upk2-TAg)#Rkl	MGI:5014308		Mouse only
614286	Myelodysplastic Syndrome; MDS		Tg(Vav1-cre)A2Kio	MGI:2449945		Mouse only
120435	Lynch Syndrome I	Colon Cancer, Familial Nonpolyposis, Type 1; FCC1|Colorectal Cancer, Hereditary Nonpolyposis, Type 1; HNPCC1	Tg(Vil-cre)20Syr	MGI:3053809		Mouse only
114480	Breast Cancer		Tg(Wap-cre)11738Mam	MGI:2176164		Mouse only
114480	Breast Cancer		Tg(WapTgfa)215Bri	MGI:3054254		Mouse only
114480	Breast Cancer		Tg(Wnt1)1Hev	MGI:1890060		Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Tg(Wnt1-cre)11Rth	MGI:2447280		Mouse only
163950	Noonan Syndrome 1; NS1	Female Pseudo-Turner Syndrome|Male Turner Syndrome|Noonan Syndrome	Tg(Wnt1-cre)11Rth	MGI:2447280		Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tg(Wnt1-cre)11Rth	MGI:2447280		Mouse only
604229	Peters Anomaly		Tg(Wnt1-cre)11Rth	MGI:2447280		Mouse only
607411	Patent Ductus Arteriosus	PDA|PDA1	Tg(Wnt1-cre)11Rth	MGI:2447280		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(YAC128)53Hay	MGI:3613512		Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Tg(YAC72)2511Hay	MGI:3056898		Mouse only
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	Tg(YACW408A5)1952Ricc	MGI:3655814		Mouse only
191900	Muckle-Wells Syndrome; MWS	UDA Syndrome|Urticaria-Deafness-Amyloidosis Syndrome	Tg(Zp3-cre)3Mrt	MGI:2176051		Mouse only
176270	Prader-Willi Syndrome; PWS		Tg(Zp3-cre)93Knw	MGI:2176186		Mouse only
130700	Emphysema, Hereditary Pulmonary		Tgfb1	MGI:98725	TGFB1	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Tgfb1	MGI:98725	TGFB1	Mouse only
604229	Peters Anomaly		Tgfb2	MGI:98726	TGFB2	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Tgfbr2	MGI:98729	TGFBR2	Mouse only
211980	Lung Cancer		Tgfbr2	MGI:98729	TGFBR2	Mouse only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Tgm2	MGI:98731	TGM2	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Thbs1	MGI:98737	THBS1	Mouse only
188470	Thyroid Carcinoma, Follicular; FTC		Thrb	MGI:98743	THRB	Mouse only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Timo	MGI:3766098		Mouse only
601665	Obesity		Timo	MGI:3766098		Mouse only
130700	Emphysema, Hereditary Pulmonary		Tlr4	MGI:96824	TLR4	Mouse only
243180	Visceral Neuropathy, Familial, Autosomal Recessive	Argyrophil Myenteric Plexus, Deficiency of|Intestinal Pseudoobstruction Due to Neuronal Disease	Tlx2	MGI:1350935	TLX2	Mouse only
601223	Neuronal Intestinal Dysplasia, Type B	Nid B	Tlx2	MGI:1350935	TLX2	Mouse only
155255	Medulloblastoma; MDB		Tlx3	MGI:1351209	TLX3	Mouse only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Tlx3	MGI:1351209	TLX3	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Tnf	MGI:104798	TNF	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tnfrsf13b	MGI:1889411	TNFRSF13B	Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tnfrsf1a	MGI:1314884	TNFRSF1A	Mouse only
126200	Multiple Sclerosis, Susceptibility To; MS		Tnfrsf1b	MGI:1314883	TNFRSF1B	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Tnfrsf9	MGI:1101059	TNFRSF9	Mouse only
270150	Sjogren Syndrome	Sicca Syndrome	Tnfrsf9	MGI:1101059	TNFRSF9	Mouse only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Tnfsf4	MGI:104511	TNFSF4	Mouse only
603165	Dermatitis, Atopic	ATOD	Traf3ip2	MGI:2143599	TRAF3IP2	Mouse only
224900	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal Dysplasia, Anhidrotic	Traf6	MGI:108072	TRAF6	Mouse only
184850	Stiff-Person Syndrome; SPS	Stiff-Man Syndrome	Trak1	MGI:1914345	TRAK1	Mouse only
104300	Alzheimer Disease; AD		Trib2	MGI:2145021	TRIB2	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Trove2	MGI:106652	TROVE2	Mouse only
109800	Bladder Cancer		Trp53	MGI:98834	TP53	Mouse only
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	Trp53	MGI:98834	TP53	Mouse only
155255	Medulloblastoma; MDB		Trp53	MGI:98834	TP53	Mouse only
156240	Mesothelioma, Malignant; MESOM		Trp53	MGI:98834	TP53	Mouse only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Trp53	MGI:98834	TP53	Mouse only
167000	Ovarian Cancer		Trp53	MGI:98834	TP53	Mouse only
175200	Peutz-Jeghers Syndrome; PJS	Polyposis, Hamartomatous Intestinal|Polyps-And-Spots Syndrome	Trp53	MGI:98834	TP53	Mouse only
176807	Prostate Cancer		Trp53	MGI:98834	TP53	Mouse only
182280	Small Cell Cancer of the Lung	SCLC; SCCL|SCLC1	Trp53	MGI:98834	TP53	Mouse only
211980	Lung Cancer		Trp53	MGI:98834	TP53	Mouse only
256700	Neuroblastoma, Susceptibility to		Trp53	MGI:98834	TP53	Mouse only
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Trp53	MGI:98834	TP53	Mouse only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Trp53	MGI:98834	TP53	Mouse only
608089	Endometrial Cancer		Trp53	MGI:98834	TP53	Mouse only
109350	Gastroesophageal Reflux; GER	Gastroesophageal Reflux Disease; GERD|Gastroesophageal Reflux, Pediatric	Trp63	MGI:1330810	TP63	Mouse only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent	Trp73	MGI:1336991	TP73	Mouse only
603165	Dermatitis, Atopic	ATOD	Trpv3	MGI:2181407	TRPV3	Mouse only
605583	Deafness, Autosomal Dominant 25; DFNA25		Trpv4	MGI:1926945	TRPV4	Mouse only
190685	Down Syndrome		Ts(16C-tel)1Cje	MGI:3623021		Mouse only
190685	Down Syndrome		Ts(17<16>)65Dn	MGI:2178111		Mouse only
263200	Polycystic Kidney Disease, Autosomal Recessive; ARPKD	Polycystic Kidney and Hepatic Disease 1; PKHD1|Polycystic Kidney Disease, Infantile, Type I	Tsc1	MGI:1929183	TSC1	Mouse only
181750	Scleroderma, Familial Progressive		Tsk2	MGI:98851		Mouse only
305390	Exudative Vitreoretinopathy 2, X-Linked; EVR2	EVRX|Exudative Vitreoretinopathy, Familial, 2|FEVR, X-Linked; FEVRX	Tspan12	MGI:1889818	TSPAN12	Mouse only
601665	Obesity		Tub	MGI:2651573	TUB	Mouse only
607432	Lissencephaly 1; LIS1	Lissencephaly Sequence, Isolated; ILS	Tuba1a	MGI:98869	TUBA1A	Mouse only
227260	Setleis Syndrome	Bitemporal Forceps Marks Syndrome|Facial Ectodermal Dysplasia|FFDD, Type II|Focal Facial Dermal Dysplasia, Type II	Twist2	MGI:104685	TWIST2	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Txnip	MGI:1889549	TXNIP	Mouse only
231300	Glaucoma 3, Primary Congenital, A; GLC3A	Glaucoma, Congenital; GLC3	Tyr	MGI:98880	TYR	Mouse only
600512	Epilepsy, Familial Temporal Lobe, 1; ETL1	Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; ADLTE|Epilepsy, Partial, with Auditory Features; ADPEAF	Tyr	MGI:98880	TYR	Mouse only
600510	Glaucoma-Related Pigment Dispersion Syndrome; GPDS1	Glaucoma, Pigment-Dispersion Type|Pigment Dispersion Syndrome; PDS	Tyrp1	MGI:98881	TYRP1	Mouse only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Uaca	MGI:1919815	UACA	Mouse only
218800	Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome|Hyperbilirubinemia, Crigler-Najjar Type I; HBLRCN1	Ugt1	MGI:3785283		Mouse only
174000	Medullary Cystic Kidney Disease 1; MCKD1	MCKD|Medullary Cystic Kidney Disease, Autosomal Dominant; ADMCKD1|Polycystic Kidneys, Medullary Type	Umod	MGI:102674	UMOD	Mouse only
125800	Diabetes Insipidus, Nephrogenic, Autosomal	Diabetes Insipidus, Nephrogenic, Type II	Uox	MGI:98907	UOX	Mouse only
193000	Vesicoureteral Reflux 1; VUR1		Upk3a	MGI:98914	UPK3A	Mouse only
227646	Fanconi Anemia, Complementation Group D2; FANCD2	FAD2|Fanconi Anemia, Complementation Group D; FANCD; FACD|Fanconi Pancytopenia, Type 4; FA4	Usp1	MGI:2385198	USP1	Mouse only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Utrn	MGI:104631	UTRN	Mouse only
182940	Neural Tube Defects		Vangl2	MGI:2135272	VANGL2	Mouse only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Vegfa	MGI:103178	VEGFA	Mouse only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids	Vegfa	MGI:103178	VEGFA	Mouse only
267450	Respiratory Distress Syndrome in Premature Infants	Hyaline Membrane Disease, Formerly|Rds of Prematurity	Vegfa	MGI:103178	VEGFA	Mouse only
204200	Ceroid Lipofuscinosis, Neuronal, 3; CLN3	Batten Disease|Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL|Spielmeyer-Sjogren Disease|Vogt-Spielmeyer Disease	Vim	MGI:98932	VIM	Mouse only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Vldlr	MGI:98935	VLDLR	Mouse only
253300	Spinal Muscular Atrophy, Type I; SMA1	Muscular Atrophy, Infantile|SMA I|SMA, Infantile Acute Form|Werdnig-Hoffmann Disease	Vps54	MGI:2178798	VPS54	Mouse only
119800	Clubfoot, Congenital; CCF	Talipes Equinovarus; TEV	vsd	MGI:3522251		Mouse only
142900	Holt-Oram Syndrome; HOS	Atriodigital Dysplasia|Heart-Hand Syndrome|HOS1	vsd	MGI:3522251		Mouse only
114480	Breast Cancer		Wap	MGI:98943		Mouse only
107100	Anorectal Anomalies		Wnt5a	MGI:98958	WNT5A	Mouse only
606963	Pulmonary Disease, Chronic Obstructive		Wwtr1	MGI:1917649	WWTR1	Mouse only
609886	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria		Wwtr1	MGI:1917649	WWTR1	Mouse only
302045	Cardiomyopathy, Dilated, 3b; CMD3B	Cardiomyopathy, Dilated, X-Linked; XLCM	Xlch	MGI:3797603		Mouse only
133540	Cockayne Syndrome, Type B; CSB	Ckn2	Xpa	MGI:99135	XPA	Mouse only
601675	Trichothiodystrophy, Photosensitive; TTDP		Xpa	MGI:99135	XPA	Mouse only
211980	Lung Cancer		Xpc	MGI:103557	XPC	Mouse only
155255	Medulloblastoma; MDB		Xrcc4	MGI:1333799	XRCC4	Mouse only
155255	Medulloblastoma; MDB		Xrcc5	MGI:104517	XRCC5	Mouse only
152700	Systemic Lupus Erythematosus; SLE		Yaa	MGI:99140		Mouse only
607903	Hypotrichosis 6; HYPT6	HTL|Hypotrichosis, Localized, Autosomal Recessive 1; LAH1|Hypotrichosis, Localized, Autosomal Recessive; LAH	Yaa	MGI:99140		Mouse only
607432	Lissencephaly 1; LIS1	Lissencephaly Sequence, Isolated; ILS	Ywhae	MGI:894689	YWHAE	Mouse only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Zap70	MGI:99613	ZAP70	Mouse only
143100	Huntington Disease; HD	Huntington Chorea	Zdhhc17	MGI:2445110	ZDHHC17	Mouse only
159580	Myelopathy, Htlv-1-Associated; HAM	Familial Spastic Paraparesis, HTLV-1-Associated	Zeb1	MGI:1344313	ZEB1	Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Zfp36l1	MGI:107946	ZFP36L1	Mouse only
613065	Leukemia, Acute Lymphoblastic; ALL		Zfp36l2	MGI:107945	ZFP36L2	Mouse only
220200	Dandy-Walker Syndrome; DWS		Zfp423	MGI:1891217	ZNF423	Mouse only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH	Zfpm2	MGI:1334444	ZFPM2	Mouse only
605067	Tricuspid Atresia		Zfpm2	MGI:1334444	ZFPM2	Mouse only
213300	Joubert Syndrome; JBTS	Joubert-Boltshauser Syndrome	Zic1	MGI:106683	ZIC1	Mouse only
220200	Dandy-Walker Syndrome; DWS		Zic1	MGI:106683	ZIC1	Mouse only
181500	Schizophrenia; SCZD		Zic2	MGI:106679	ZIC2	Mouse only
164210	Hemifacial Microsomia; HFM	Facioauriculovertebral Sequence|Fav Sequence|Goldenhar Syndrome|OAV Dysplasia|Oculoauriculovertebral Dysplasia|Oculoauriculovertebral Spectrum; OAVS	Zic3	MGI:106676	ZIC3	Mouse only
220200	Dandy-Walker Syndrome; DWS		Zic4	MGI:107201	ZIC4	Mouse only
151660	Lipodystrophy, Familial Partial, Type 2; FPLD2	FPL2|Lipoatrophic Diabetes|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Reverse Partial	Zmpste24	MGI:1890508	ZMPSTE24	Mouse only
159001	Muscular Dystrophy, Limb-Girdle, Type 1B; LGMD1B	Muscular Dystrophy, Proximal, Type 1B	Zmpste24	MGI:1890508	ZMPSTE24	Mouse only
176670	Hutchinson-Gilford Progeria Syndrome; HGPS		Zmpste24	MGI:1890508	ZMPSTE24	Mouse only
181350	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2	Emd2|Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant|Muscular Dystrophy with Early Contractures and Cardiomyopathy, Autosomal Dominant|Scapuloilioperoneal Atrophy with Cardiopathy	Zmpste24	MGI:1890508	ZMPSTE24	Mouse only
104300	Alzheimer Disease; AD		A2m	MGI:2449119	A2M	Human only
104000	Alopecia Areata 1				AA1	Human only
610753	Alopecia Areata 2	Aa2			AA2	Human only
100070	Aortic Aneurysm, Familial Abdominal, 1; AAA1	Abdominal Aortic Aneurysm|Aneurysm, Abdominal Aortic; AAA			AAA1	Human only
609782	Aortic Aneurysm, Familial Abdominal, 2; AAA2				AAA2	Human only
611891	Aortic Aneurysm, Familial Abdominal, 3; AAA3				AAA3	Human only
231550	Achalasia-Addisonianism-Alacrima Syndrome; AAAS	Addisonian-Achalasia Syndrome|Alacrima-Achalasia-Addisonianism|Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder|Allgrove Syndrome|Glucocorticoid Deficiency and Achalasia|Hypoadrenalism with Achalasia|Triple-A Syndrome	Aaas	MGI:2443767	AAAS	Human only
109660	Beta-Amino Acids, Renal Transport Of; AABT	Taurine Renal Reabsorption			AABT	Human only
613287	Charcot-Marie-Tooth Disease, Axonal, Type 2n; CMT2N	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n	Aars	MGI:2384560	AARS	Human only
238700	Hyperlysinemia	Alpha-Aminoadipic Semialdehyde Synthase Deficiency|L-Lysine:NAD-Oxido-Reductase Deficiency|Lysine Intolerance|Lysine:Alpha-Ketoglutarate Reductase Deficiency	Aass	MGI:1353573	AASS	Human only
268700	Saccharopinuria	Alpha-Aminoadipic Semialdehyde Synthase Deficiency|Saccharopine Dehydrogenase Deficiency	Aass	MGI:1353573	AASS	Human only
607086	Aortic Aneurysm, Familial Thoracic 1; AAT1	Annuloaortic Ectasia|Aortic Aneurysm, Familial Thoracic|Aortic Dissection, Familial|FAA1			AAT1	Human only
607087	Aortic Aneurysm, Familial Thoracic 2; AAT2	FAA2			AAT2	Human only
613163	Gaba-Transaminase Deficiency		Abat	MGI:2443582	ABAT	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Abca1	MGI:99607	ABCA1	Human only
600046	ATP-Binding Cassette, Subfamily A, Member 1; ABCA1	ABC Transporter 1|ATP-Binding Cassette 1; ABC1|ATP-Binding Cassette Transporter 1	Abca1	MGI:99607	ABCA1	Human only
604091	Hypoalphalipoproteinemia, Primary	Familial Hdl Deficiency; FHD|Hdl Cholesterol, Low Serum; HDLC|High Density Lipoprotein Deficiency; HDLD|Hypoalphalipoproteinemia, Familial; FHA	Abca1	MGI:99607	ABCA1	Human only
601277	Ichthyosis, Lamellar, 2; LI2	Ichthyosis Congenita IIB; ICR2B|Lamellar Ichthyosis, Type 2	Abca12	MGI:2676312	ABCA12	Human only
612244	Inflammatory Bowel Disease 13; IBD13		Abcb1a	MGI:97570	ABCB1	Human only
601847	Cholestasis, Progressive Familial Intrahepatic, 2; PFIC2		Abcb11	MGI:1351619	ABCB11	Human only
605479	Cholestasis, Benign Recurrent Intrahepatic, 2; BRIC2		Abcb11	MGI:1351619	ABCB11	Human only
147480	Cholestasis, Intrahepatic, of Pregnancy; ICP	Cholestasis, Pregnancy-Related|Recurrent Intrahepatic Cholestasis of Pregnancy; RICP	Abcb4	MGI:97569	ABCB4	Human only
600803	Gallbladder Disease 1; GBD1	Cholecystitis|Cholelithiasis|Gallstones	Abcb4	MGI:97569	ABCB4	Human only
602347	Cholestasis, Progressive Familial Intrahepatic, 3; PFIC3	Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase|MDR3 Deficiency	Abcb4	MGI:97569	ABCB4	Human only
301310	Anemia, Sideroblastic, and Spinocerebellar Ataxia; ASAT		Abcb7	MGI:109533	ABCB7	Human only
237500	Dubin-Johnson Syndrome; DJS	Hyperbilirubinemia II|Hyperbilirubinemia, Dubin-Johnson Type; HBLRDJ	Abcc2	MGI:1352447	ABCC2	Human only
177850	Pseudoxanthoma Elasticum, Forme Fruste		Abcc6	MGI:1351634	ABCC6	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Abcc8	MGI:1352629	ABCC8	Human only
240800	Hypoglycemia, Leucine-Induced; LIH	Leucine-Sensitive Hypoglycemia of Infancy	Abcc8	MGI:1352629	ABCC8	Human only
256450	Hyperinsulinemic Hypoglycemia, Familial, 1; HHF1	Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia|Hyperinsulinism, Congenital|Hyperinsulinism, Familial, with Pancreatic Nesidioblastosis|Hypoglycemia, Hyperinsulinemic, of Infancy|Nesidioblastosis of Pancreas|Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI	Abcc8	MGI:1352629	ABCC8	Human only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Abcc8	MGI:1352629	ABCC8	Human only
610374	Diabetes Mellitus, Transient Neonatal, 2	Tndm2	Abcc8	MGI:1352629	ABCC8	Human only
608569	Cardiomyopathy, Dilated, 1O; CMD1O	Cardiomyopathy, Dilated, with Ventricular Tachycardia	Abcc9	MGI:1352630	ABCC9	Human only
170995	ATP-Binding Cassette, Subfamily D, Member 3; ABCD3	Peroxisomal Membrane Protein 1; PXMP1	Abcd3	MGI:1349216	ABCD3	Human only
611465	Gallbladder Disease 4	Gbd4	Abcg8	MGI:1914720	ABCG8	Human only
612674	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract;	Pharc	Abhd12	MGI:1923442	ABHD12	Human only
155255	Medulloblastoma; MDB		Abr	MGI:107771	ABR	Human only
261515	D-Bifunctional Protein Deficiency	17-beta-Hydroxysteroid Dehydrogenase IV Deficiency|DBP Deficiency|PBFE Deficiency|Peroxisomal Bifunctional Enzyme Deficiency	Acaa1a	MGI:2148491	ACAA1	Human only
611283	Isobutyryl-Coa Dehydrogenase Deficiency	Acad8 Deficiency|Acyl-Coa Dehydrogenase Family, Member 8, Deficiency of|Ibd Deficiency	Acad8	MGI:1914198	ACAD8	Human only
611126	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency of	Acad9 Deficiency|Mitochondrial Complex I Deficiency Due to Acad9 Deficiency	Acad9	MGI:1914272	ACAD9	Human only
610006	2-methylbutyryl-Coa Dehydrogenase Deficiency	2-methylbutyryl Glycinuria|Short/Branched-Chain Acyl-Coa Dehydrogenase Deficiency; SBCADD	Acadsb	MGI:1914135	ACADSB	Human only
165800	Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis;	Od	Acan	MGI:99602	ACAN	Human only
608361	Spondyloepiphyseal Dysplasia, Kimberley Type	SEDK	Acan	MGI:99602	ACAN	Human only
612813	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Semd, Aggrecan Type	Acan	MGI:99602	ACAN	Human only
203750	Alpha-Methylacetoacetic Aciduria	2-methyl-3-Hydroxybutyric Acidemia|3-Ketothiolase Deficiency|3-Ktd Deficiency|3-Oxothiolase Deficiency|Beta-Ketothiolase Deficiency|MAT Deficiency|Mitochondrial Acetoacetyl-CoA Thiolase Deficiency|T2 Deficiency	Acat1	MGI:87870	ACAT1	Human only
104300	Alzheimer Disease; AD		Ace	MGI:87874	ACE	Human only
106180	Angiotensin I-Converting Enzyme; ACE	ACE1|Dipeptidyl Carboxypeptidase 1; DCP1	Ace	MGI:87874	ACE	Human only
267430	Renal Tubular Dysgenesis; RTD		Ace	MGI:87874	ACE	Human only
603933	Microvascular Complications of Diabetes, Susceptibility to, 1; MVCD1	Proliferative Retinopathy, Diabetic, Susceptibility to	Ace	MGI:87874	ACE	Human only
612624	Microvascular Complications of Diabetes, Susceptibility to, 3; MVCD3	End-Stage Renal Disease, Diabetic, Susceptibility to|Nephropathy, Diabetic, Susceptibility to	Ace	MGI:87874	ACE	Human only
125520	Cayler Cardiofacial Syndrome	Asymmetric Crying Facies; ACF|Depressor Anguli Oris Muscle, Hypoplasia of|Facial Paresis, Partial, Unilateral			ACF	Human only
200990	Acrocallosal Syndrome; ACLS	Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum			ACLS	Human only
605967	Acropectoral Syndrome	ACRP Syndrome|ACRPS|Syndactyly, Preaxial Polydactyly, and Sternal Deformity			ACRPS	Human only
102510	Acropectorovertebral Dysplasia, F-Form of	ACRPV|F Syndrome			ACRPV	Human only
300387	Mental Retardation, X-Linked 63; MRX63	Mental Retardation, X-Linked 68; MRX68	Acsl4	MGI:1354713	ACSL4	Human only
161800	Nemaline Myopathy 3; NEM3		Acta1	MGI:87902	ACTA1	Human only
255310	Myopathy, Congenital, with Fiber-Type Disproportion; CFTD	Fiber-Type Disproportion Myopathy, Congenital; CFTDM	Acta1	MGI:87902	ACTA1	Human only
611788	Aortic Aneurysm, Familial Thoracic 6; AAT6	Familial Thoracic Aortic Aneurysm with Livedo Reticularis and Iris Flocculi	Acta2	MGI:87909	ACTA2	Human only
607371	Dystonia, Juvenile-Onset		Actb	MGI:87904	ACTB	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Actc1	MGI:87905	ACTC1	Human only
612098	Cardiomyopathy, Familial Hypertrophic, 11; CMH11		Actc1	MGI:87905	ACTC1	Human only
612794	Atrial Septal Defect 5; ASD5		Actc1	MGI:87905	ACTC1	Human only
613424	Cardiomyopathy, Dilated, 1r; CMD1R		Actc1	MGI:87905	ACTC1	Human only
142700	Acetabular Dysplasia				ACTD	Human only
604717	Deafness, Autosomal Dominant 20; DFNA20	DFNA26	Actg1	MGI:87906	ACTG1	Human only
612158	Cardiomyopathy, Dilated, 1aa; CMD1AA		Actn2	MGI:109192	ACTN2	Human only
135100	Fibrodysplasia Ossificans Progressiva; FOP		Acvr1	MGI:87911	ACVR1	Human only
609924	Aminoacylase 1 Deficiency	Acy1d	Acy1	MGI:87913	ACY1	Human only
104300	Alzheimer Disease; AD				AD10	Human only
609636	Alzheimer Disease 10	Ad10|Alzheimer Disease, Familial, 10			AD10	Human only
609790	Alzheimer Disease 11	Ad11|Alzheimer Disease, Familial, 11			AD11	Human only
611073	Alzheimer Disease 12	Ad12|Alzheimer Disease, Familial, 12			AD12	Human only
611152	Alzheimer Disease 13; AD13				AD13	Human only
611154	Alzheimer Disease 14; AD14				AD14	Human only
611155	Alzheimer Disease 15; AD15				AD15	Human only
300756	Alzheimer Disease 16; AD16				AD16	Human only
104300	Alzheimer Disease; AD				AD5	Human only
602096	Alzheimer Disease 5	AD5|Alzheimer Disease, Familial, 5			AD5	Human only
104300	Alzheimer Disease; AD				AD6	Human only
605526	Alzheimer Disease 6	AD6			AD6	Human only
606187	Alzheimer Disease 7	AD7|Alzheimer Disease, Familial, 7			AD7	Human only
104300	Alzheimer Disease; AD				AD8	Human only
607116	Alzheimer Disease 8	AD8|Alzheimer Disease, Familial, 8			AD8	Human only
104300	Alzheimer Disease; AD				AD9	Human only
608907	Alzheimer Disease 9	AD9|Alzheimer Disease 9, Late-Onset			AD9	Human only
612775	Cone-Rod Dystrophy 9; CORD9		Adam9	MGI:105376	ADAM9	Human only
277600	Weill-Marchesani Syndrome 1; WMS1	Mesodermal Dysmorphodystrophy, Congenital|Spherophakia-Brachymorphia Syndrome|Weill-Marchesani Syndrome, Autosomal Recessive	Adamts10	MGI:2449112	ADAMTS10	Human only
613195	Weill-Marchesani-Like Syndrome		Adamts17	MGI:3588195	ADAMTS17	Human only
231050	Geleophysic Dysplasia 1; GPHYSD1		Adamtsl2	MGI:1925044	ADAMTSL2	Human only
225100	Ectopia Lentis, Isolated, Autosomal Recessive		Adamtsl4	MGI:2389008	ADAMTSL4	Human only
127400	Dyschromatosis Symmetrica Hereditaria 1	DSH1|Dyschromatosis Symmetrica Hereditaria; DSH|Reticulate Acropigmentation of Dohi|Symmetric Dyschromatosis of the Extremities	Adar	MGI:1889575	ADAR	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Adck3	MGI:1914676	ADCK3	Human only
612016	Spinocerebellar Ataxia, Autosomal Recessive 9; SCAR9		Adck3	MGI:1914676	ADCK3	Human only
143870	Hypercalciuria, Absorptive, 2; HCA2	Hypercalciuria, Familial Idiopathic	Adcy10	MGI:2660854	ADCY10	Human only
145500	Hypertension, Essential	EHT	Add1	MGI:87918	ADD1	Human only
300700	Albinism-Deafness Syndrome; ADFN	ALDS			ADFN	Human only
103780	Alcohol Dependence	Alcoholism			ADH1B	Human only
103780	Alcohol Dependence	Alcoholism	Adh1	MGI:87921	ADH1C	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Adh1	MGI:87921	ADH1C	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood			ADHD1	Human only
608903	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 1	ADHD1			ADHD1	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood			ADHD2	Human only
608904	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 2	ADHD2			ADHD2	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood			ADHD3	Human only
608905	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 3	ADHD3			ADHD3	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood			ADHD4	Human only
608906	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 4	ADHD4			ADHD4	Human only
612311	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 5	Adhd5|Motor Timing Quantitative Trait Locus			ADHD5	Human only
612312	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 6	Adhd6|Digit Span Quantitative Trait Locus			ADHD6	Human only
104250	Alpha-2c-Adrenergic Receptor; ADRA2C		Adra2c	MGI:87936	ADRA2C	Human only
607276	Resting Heart Rate, Variation in	RHR	Adrb1	MGI:87937	ADRB1	Human only
109630	Beta-1-Adrenergic Receptor; ADRB1	Adrb1r	Adrb1	MGI:87937	ADRB1	Human only
109690	Beta-2-Adrenergic Receptor; ADRB2	Beta-2-Adrenoceptor; BAR; B2AR|Beta-Adrenergic Receptor; ADRBR	Adrb2	MGI:87938	ADRB2	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Adrb2	MGI:87938	ADRB2	Human only
103050	Adenylosuccinase Deficiency	Adenylosuccinate Lyase Deficiency|Adsl Deficiency	Adsl	MGI:103202	ADSL	Human only
106250	Ankyloblepharon Filiforme Adnatum and Cleft Palate; AFA				AFA	Human only
109200	Alopecia, Androgenetic, 1; AGA1				AFA1	Human only
154400	Acrofacial Dysostosis 1, Nager Type; AFD1	AFD, Nager Type|Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies|Nager Acrofacial Dysostosis			AFD1	Human only
309548	Mental Retardation, X-Linked, Associated with Fragile Site Fraxe	Fraxe Mental Retardation Syndrome	Aff2	MGI:1202294	AFF2	Human only
610246	Spinocerebellar Ataxia 28; SCA28		Afg3l2	MGI:1916847	AFG3L2	Human only
104150	Alpha-Fetoprotein; AFP		Afp	MGI:87951	AFP	Human only
300710	Alopecia, Androgenetic, 2; AGA2				AGA2	Human only
612421	Alopecia, Androgenetic, 3; AGA3				AGA3	Human only
149000	Klippel-Trenaunay-Weber Syndrome	Angioosteohypertrophy Syndrome|Klippel-Trenaunay Syndrome; KTS|KTW Syndrome	Aggf1	MGI:1913799	AGGF1	Human only
232400	Glycogen Storage Disease III	AGL Deficiency|Amylo-1,6-Glucosidase Deficiency|Cori Disease|Forbes Disease|Glycogen Debrancher Deficiency|Gsd III; GSD3|Limit Dextrinosis	Agl	MGI:1924809	AGL	Human only
300310	Agammaglobulinemia, X-Linked, Type 2; AGMX2	XLA2			AGMX2	Human only
600121	Rhizomelic Chondrodysplasia Punctata, Type 3; RCDP3	AGPS Deficiency|Alkyldihydroxyacetonephosphate Synthase Deficiency|Alkylglycerone-Phosphate Synthase Deficiency	Agps	MGI:2443065	AGPS	Human only
601665	Obesity		Agrp	MGI:892013	AGRP	Human only
300652	Angioma Serpiginosum, X-Linked				AGSPX	Human only
145500	Hypertension, Essential	EHT	Agt	MGI:87963	AGT	Human only
267430	Renal Tubular Dysgenesis; RTD		Agt	MGI:87963	AGT	Human only
106150	Angiotensinogen; AGT		Agt	MGI:87963	AGT	Human only
145500	Hypertension, Essential	EHT	Agtr1a	MGI:87964	AGTR1	Human only
267430	Renal Tubular Dysgenesis; RTD		Agtr1a	MGI:87964	AGTR1	Human only
259900	Hyperoxaluria, Primary, Type I; HP1	Alanine-Glyoxylate Aminotransferase Deficiency|Glycolic Aciduria|Hepatic Agt Deficiency|Oxalosis I|Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency|Serine:pyruvate Aminotransferase Deficiency	Agxt	MGI:1329033	AGXT	Human only
304050	Aicardi Syndrome; AIC	Corpus Callosum, Agenesis of, with Chorioretinal Abnormality			AIC	Human only
605258	Immunodeficiency with Hyper-Igm, Type 2; HIGM2	Hyper-Igm Syndrome 2	Aicda	MGI:1342279	AICDA	Human only
300816	Combined Oxidative Phosphorylation Deficiency 6; COXPD6	Encephalomyopathy, Mitochondrial, X-Linked	Aifm1	MGI:1349419	AIFM1	Human only
301201	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly; AIH3, FORMERLY|Enamel Hypoplasia, X-Linked			AIH3	Human only
102200	Pituitary Adenoma, Growth Hormone-Secreting	Isolated Familial Somatotropinoma; IFS|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated; FIS	Aip	MGI:109622	AIP	Human only
219090	Pituitary Adenoma, Acth-Secreting	Cushing Disease, Pituitary	Aip	MGI:109622	AIP	Human only
600634	Pituitary Adenoma, Prolactin-Secreting	Prolactinoma, Familial	Aip	MGI:109622	AIP	Human only
601676	Acute Insulin Response	AIR			AIR	Human only
181800	Scoliosis, Idiopathic, Susceptibility to, 1; IS1	Adolescent Idiopathic Scoliosis; AIS			AIS	Human only
607836	Autoimmune Disease, Susceptibility to, 1; AIS1	Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2; VAMAS2			AIS1	Human only
608391	Autoimmune Disease, Susceptibility to, 2; AIS2	Autoimmune Disease Susceptibility Locus, Chromosome 7-Related|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3; VAMAS3			AIS2	Human only
608392	Autoimmune Disease, Susceptibility to, 3; AIS3	Autoimmune Disease Susceptibility Locus, Chromosome 8-Related|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4; VAMAS4			AIS3	Human only
609400	Autoimmune Disease, Susceptibility to, 4; AIS4	Autoimmune Disease Susceptibility Locus, Chromosome 4-Related|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5; VAMAS5			AIS4	Human only
608173	Autoimmune Thyroid Disease, Susceptibility to, 1	AITD1			AITD1	Human only
608174	Autoimmune Thyroid Disease, Susceptibility to, 2	AITD2			AITD2	Human only
608176	Autoimmune Thyroid Disease, Susceptibility to, 4	AITD4			AITD4	Human only
612631	Adenylate Kinase Deficiency, Hemolytic Anemia Due to		Ak1	MGI:87977	AK1	Human only
267500	Reticular Dysgenesis	Aleukocytosis|Congenital Aleukia|De Vaal Disease|Hematopoietic Hypoplasia, Generalized|Reticular Dysgenesia|Severe Combined Immunodeficiency with Leukopenia	Ak2	MGI:87978	AK2	Human only
115080	Cardiac Conduction Defect		Akap10	MGI:1890218	AKAP10	Human only
611820	Long Qt Syndrome 11; LQT11		Akap9	MGI:2178217	AKAP9	Human only
235555	Bile Acid Synthesis Defect, Congenital, 2; CBAS2	Cholestasis with Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency	Akr1d1	MGI:2384785	AKR1D1	Human only
114480	Breast Cancer		Akt1	MGI:87986	AKT1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Akt1	MGI:87986	AKT1	Human only
181500	Schizophrenia; SCZD		Akt1	MGI:87986	AKT1	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Akt1	MGI:87986	AKT1	Human only
612740	Porphyria, Acute Hepatic	Alad Deficiency|Delta-Aminolevulinate Dehydratase Deficiency|Porphobilinogen Synthase Deficiency|Porphyria, Alad	Alad	MGI:96853	ALAD	Human only
300751	Anemia, Sideroblastic, X-Linked; XLSA	Anemia, Hereditary Sideroblastic|Anemia, Hypochromic; ANH1|Hereditary Iron-Loading Anemia	Alas2	MGI:87990	ALAS2	Human only
300752	Protoporphyria, Erythropoietic, X-Linked; XLEPP	Erythrohepatic Protoporphyria, X-Linked;|Protoporphyria, Erythropoietic, X-Linked Dominant; XLDPP	Alas2	MGI:87990	ALAS2	Human only
103600	Albumin; ALB		Alb	MGI:87991	ALB	Human only
194470	Zinc, Elevated Plasma	Albumin Binding of Zinc, Elevated	Alb	MGI:87991	ALB	Human only
219150	Cutis Laxa, Autosomal Recessive, Type IIIA; ARCL3A	Cutis Laxa, Corneal Clouding, and Mental Retardation|De Barsy Syndrome A|Progeroid Syndrome of De Barsy	Aldh18a1	MGI:1888908	ALDH18A1	Human only
100650	Aldehyde Dehydrogenase 2 Family; ALDH2	Aldehyde Dehydrogenase 2|ALDH, Liver Mitochondrial	Aldh2	MGI:99600	ALDH2	Human only
610251	Alcohol Sensitivity, Acute		Aldh2	MGI:99600	ALDH2	Human only
270200	Sjogren-Larsson Syndrome; SLS	Faldh Deficiency|Fatty Alcohol:NAD+ Oxidoreductase Deficiency|Fatty Aldehyde Dehydrogenase Deficiency|Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia	Aldh3a2	MGI:1353452	ALDH3A2	Human only
239510	Hyperprolinemia, Type II; HPII	1-pyrroline-5-Carboxylate Dehydrogenase Deficiency	Aldh4a1	MGI:2443883	ALDH4A1	Human only
266100	Epilepsy, Pyridoxine-Dependent; EPD	Aasa Dehydrogenase Deficiency|Pyridoxine Dependency with Seizures|Pyridoxine-Dependent Epilepsy; PDE	Aldh7a1	MGI:108186	ALDH7A1	Human only
611881	Glycogen Storage Disease Xii; GSD12	Aldoa Deficiency|Aldolase A Deficiency|Aldolase Deficiency, Red Cell|Gsd Xii|Red Cell Aldolase Deficiency	Aldoa	MGI:87994	ALDOA	Human only
229600	Fructose Intolerance, Hereditary	Aldob Deficiency|Aldolase B Deficiency|Fructose-1,6-Bisphosphate Aldolase B Deficiency|Fructose-1-Phosphate Aldolase Deficiency|Fructosemia	Aldob	MGI:87995	ALDOB	Human only
608540	Congenital Disorder of Glycosylation, Type IK; CDG1K	Cdg IK; CDGIK	Alg1	MGI:2384774	ALG1	Human only
613661	Congenital Disorder of Glycosylation, Type Ip; CDG1P		Alg11	MGI:2142632	ALG11	Human only
607143	Congenital Disorder of Glycosylation, Type IG; CDG1G	Cdg IG; CDGIG	Alg12	MGI:2385025	ALG12	Human only
607906	Congenital Disorder of Glycosylation, Type II; CDG1I	Cdg II; CDGII	Alg2	MGI:1914731	ALG2	Human only
601110	Congenital Disorder of Glycosylation, Type ID; CDG1D	Carbohydrate-Deficient Glycoprotein Syndrome, Type IV, Formerly; CDGS4, FORMERLY|Cdg ID; CDGID|Cdgs, Type IV, Formerly	Alg3	MGI:1098592	ALG3	Human only
603147	Congenital Disorder of Glycosylation, Type Ic; CDG1C	Carbohydrate-Deficient Glycoprotein Syndrome, Type I, with Deficient Glycosylation of Dolichol-Linked Oligosaccharide, Formerly|Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly; CDGS5, FORMERLY|Cdg Ic; CDGIC	Alg6	MGI:2444031	ALG6	Human only
608104	Congenital Disorder of Glycosylation, Type IH; CDG1H	Cdg IH; CDGIH	Alg8	MGI:2141959	ALG8	Human only
608776	Congenital Disorder of Glycosylation, Type IL: Cdg1l	Cdg IL: Cdgil	Alg9	MGI:1924753	ALG9	Human only
256700	Neuroblastoma, Susceptibility to		Alk	MGI:103305	ALK	Human only
613014	Neuroblastoma, Susceptibility to, 3; NBLST3		Alk	MGI:103305	ALK	Human only
613065	Leukemia, Acute Lymphoblastic; ALL				ALL1	Human only
613067	Leukemia, Acute Lymphoblastic, Susceptibility to, 2	All2|Leukemia, Acute Lymphocytic, Susceptibility to, 2			ALL2	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Alox5	MGI:87999	ALOX5	Human only
601367	Stroke, Ischemic	Cerebral Infarction|Cerebrovascular Accident	Alox5ap	MGI:107505	ALOX5AP	Human only
242100	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1; NCIE1	CIE|Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form|IECN1|NCIE|Nonbullous Congenital Ichthyosiform Erythroderma 1	Aloxe3	MGI:1345140	ALOXE3	Human only
607154	Allergic Rhinitis	ALRH			ALRH	Human only
205100	Amyotrophic Lateral Sclerosis 2, Juvenile; ALS2	ALS, Juvenile; ALSJ	Als2	MGI:1921268	ALS2	Human only
606353	Primary Lateral Sclerosis, Juvenile; PLSJ	Pls, Juvenile	Als2	MGI:1921268	ALS2	Human only
607225	Spastic Paralysis, Infantile-Onset Ascending; IAHSP		Als2	MGI:1921268	ALS2	Human only
606640	Amyotrophic Lateral Sclerosis 3; ALS3				ALS3	Human only
602099	Amyotrophic Lateral Sclerosis 5; ALS5				ALS5	Human only
608031	Amyotrophic Lateral Sclerosis 7; ALS7				ALS7	Human only
613456	Frontonasal Dysplasia 3; FND3		Alx1	MGI:104621	ALX1	Human only
136760	Frontonasal Dysplasia 1; FND1		Alx3	MGI:1277097	ALX3	Human only
168500	Parietal Foramina; PFM	Catlin Marks|Cranium Bifidum Occultum|Foramina Parietalia Permagna; FPP|Parietal Foramina, Symmetric	Alx4	MGI:108359	ALX4	Human only
609597	Parietal Foramina 2; PFM2		Alx4	MGI:108359	ALX4	Human only
613451	Frontonasal Dysplasia 2; FND2		Alx4	MGI:108359	ALX4	Human only
214950	Bile Acid Synthesis Defect, Congenital, 4; CBAS4	Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid|Trihydroxycoprostanic Acid in Bile	Amacr	MGI:1098273	AMACR	Human only
300645	Atypical Mycobacteriosis, Familial, X-Linked 2; AMCBX2	Atypical Mycobacterial Infection, Disseminated, X-Linked 2|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2|Mycobacterial Disease, Mendelian Susceptibility to, X-Linked Recessive 2; XRMSMD2|Mycobacterial Disease, Susceptibility to, X-Linked 2			AMCBX2	Human only
208100	Arthrogryposis Multiplex Congenita, Neurogenic Type; AMCN	AMC, Neurogenic Type			AMCN	Human only
300158	Arthrogryposis, X-Linked, Type V; AMCX5				AMCX5	Human only
261550	Persistent Mullerian Duct Syndrome, Types I and II; PMDS	Female Genital Ducts in Otherwise Normal Male|Hernia Uteri Inguinale|Persistent Oviduct Syndrome|Pseudohermaphroditism, Male Internal	Amh	MGI:88006	AMH	Human only
261550	Persistent Mullerian Duct Syndrome, Types I and II; PMDS	Female Genital Ducts in Otherwise Normal Male|Hernia Uteri Inguinale|Persistent Oviduct Syndrome|Pseudohermaphroditism, Male Internal	Amhr2	MGI:105062	AMHR2	Human only
601626	Leukemia, Acute Myeloid; AML				AMLCR2	Human only
602439	Acute Myelogenous Leukemia				AMLCR2	Human only
300194	AMME Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis|ATS-MR|Chromosome Xq22.3 Telomeric Deletion Syndrome			AMMEC	Human only
300194	AMME Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis|ATS-MR|Chromosome Xq22.3 Telomeric Deletion Syndrome	Ammecr1	MGI:1860206	AMMECR1	Human only
261100	Megaloblastic Anemia 1	Enterocyte Cobalamin Malabsorption|Enterocyte Intrinsic Factor Receptor, Defect of|Imerslund-Grasbeck Syndrome; IGS|Mga1|Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria	Amn	MGI:1934943	AMN	Human only
102770	Adenosine Monophosphate Deaminase 1; AMPD1		Ampd1	MGI:88015	AMPD1	Human only
612874	Erythrocyte Amp Deaminase Deficiency		Ampd3	MGI:1096344	AMPD3	Human only
203650	Alopecia-Mental Retardation Syndrome 1; APMR1	AMR Syndrome			AMRS	Human only
605899	Glycine Encephalopathy; GCE		Amt	MGI:3646700	AMT	Human only
606179	Aneurysmal Bone Cysts				ANBC	Human only
105580	Anal Canal Carcinoma				ANC	Human only
105830	Angelman Syndrome; AS				ANCR	Human only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Ang	MGI:88022	ANG	Human only
611895	Amyotrophic Lateral Sclerosis 9; ALS9		Ang	MGI:88022	ANG	Human only
605019	Hypobetalipoproteinemia, Familial, 2; FHBL2	Hypolipidemia, Familial, Combined	Angptl3	MGI:1353627	ANGPTL3	Human only
605910	Angiopoietin-Like 4; ANGPTL4	Fasting-Induced Adipose Factor; FIAF|Pparg Angiopoietin-Related Protein; PGAR	Angptl4	MGI:1888999	ANGPTL4	Human only
105800	Aneurysm, Intracranial Berry, 1; ANIB1	Aneurysmal Subarachnoid Hemorrhage, Familial			ANIB1	Human only
612587	Aneurysm, Intracranial Berry, 10; ANIB10				ANIB10	Human only
608542	Aneurysm, Intracranial Berry, 2; ANIB2				ANIB2	Human only
609122	Aneurysm, Intracranial Berry, 3; ANIB3				ANIB3	Human only
610213	Aneurysm, Intracranial Berry, 4; ANIB4				ANIB4	Human only
610402	Aneurysm, Intracranial Berry, 5; ANIB5				ANIB5	Human only
611892	Aneurysm, Intracranial Berry, 6; ANIB6				ANIB6	Human only
612161	Aneurysm, Intracranial Berry, 7; ANIB7				ANIB7	Human only
612162	Aneurysm, Intracranial Berry, 8; ANIB8				ANIB8	Human only
612586	Aneurysm, Intracranial Berry, 9; ANIB9				ANIB9	Human only
107200	Anosmia, Congenital	ANIC|Anosmia, Isolated Congenital			ANIC	Human only
600919	Cardiac Arrhythmia, Ankyrin-B-Related		Ank2	MGI:88025	ANK2	Human only
118600	Chondrocalcinosis 2; CCAL2	Calcium Gout|Calcium Pyrophosphate Arthropathy|Calcium Pyrophosphate Dihydrate Deposition Disease; CPPDD|Chondrocalcinosis, Familial Articular	Ank	MGI:3045421	ANKH	Human only
605746	Anisomastia				ANMA	Human only
166260	Gnathodiaphyseal Dysplasia; GDD	Gnathodiaphyseal Sclerosis|Osteogenesis Imperfecta with Unusual Skeletal Lesions	Ano5	MGI:3576659	ANO5	Human only
611307	Muscular Dystrophy, Limb-Girdle, Type 2L; LGMD2L		Ano5	MGI:3576659	ANO5	Human only
613319	Miyoshi Muscular Dystrophy 3; MMD3	Miyoshi Myopathy 3	Ano5	MGI:3576659	ANO5	Human only
262890	Scott Syndrome; SCTS	Bleeding Abnormality Due to Deficiency of Platelet Binding of Factor X|Bleeding Disorder, Platelet-Type, 7; BDPLT7|Prothrombin Consumption Deficiency|Prothrombin Consumption Inhibitor, Familial|Prothrombin Conversion Defect, Familial	Ano6	MGI:2145890	ANO6	Human only
606788	Anorexia Nervosa, Susceptibility to, 1; ANON1	AN			ANON	Human only
301590	Microphthalmia, Syndromic 4; MCOPS4	Anop1, Formerly|Microphthalmia with Ankyloblepharon and Mental Retardation			ANOP1	Human only
602089	Hemangioma, Capillary Infantile	HCI|Hemangioma, Hereditary Capillary	Antxr1	MGI:1916788	ANTXR1	Human only
228600	Fibromatosis, Juvenile Hyaline	Hyalinosis, Systemic Juvenile|JHF|Puretic Syndrome	Antxr2	MGI:1919164	ANTXR2	Human only
236490	Hyalinosis, Infantile Systemic	Infantile Systemic Hyalinosis|ISH	Antxr2	MGI:1919164	ANTXR2	Human only
606049	Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia	AOCH			AOCH	Human only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1			AOMS1	Human only
100300	Adams-Oliver Syndrome 1; AOS1	Absence Defect of Limbs, Scalp, and Skull|Aos|Congenital Scalp Defects with Distal Limb Reduction Anomalies			AOS	Human only
300630	Mental Retardation, X-Linked, Syndromic, Fried Type; MRXSF	Mental Retardation, X-Linked 59; MRX59|Mental Retardation, X-Linked, Syndromic 21; MRXS21	Ap1s2	MGI:1889383	AP1S2	Human only
612936	Cerebral Palsy, Spastic Quadriplegic, 3; CPSQ3		Ap4m1	MGI:1337063	AP4M1	Human only
104300	Alzheimer Disease; AD		Apbb2	MGI:108405	APBB2	Human only
135290	Desmoid Disease, Hereditary		Apc	MGI:88039	APC	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Apc	MGI:88039	APC	Human only
155255	Medulloblastoma; MDB		Apc	MGI:88039	APC	Human only
276300	Mismatch Repair Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1; BTPS1|Btp1 Syndrome|Childhood Cancer Syndrome|Mismatch Repair Deficiency|Mmr Deficiency|Mmrcs|Turcot Syndrome	Apc	MGI:88039	APC	Human only
613659	Gastric Cancer		Apc	MGI:88039	APC	Human only
610422	Alopecia-Mental Retardation Syndrome 2; APMR2				APMR2	Human only
105200	Amyloidosis, Familial Visceral	Amyloidosis VIII|Amyloidosis, Familial Renal|Amyloidosis, Systemic Nonneuropathic|German Type Amyloidosis|Ostertag Type Amyloidosis	Apoa1	MGI:88049	APOA1	Human only
604091	Hypoalphalipoproteinemia, Primary	Familial Hdl Deficiency; FHD|Hdl Cholesterol, Low Serum; HDLC|High Density Lipoprotein Deficiency; HDLD|Hypoalphalipoproteinemia, Familial; FHA	Apoa1	MGI:88049	APOA1	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Apoa2	MGI:88050	APOA2	Human only
107670	Apolipoprotein A-Ii; APOA2		Apoa2	MGI:88050	APOA2	Human only
144650	Hyperlipoproteinemia, Type V	Hyperchylomicronemia with Hyperprebetalipoproteinemia, Familial|Hyperchylomicronemia, Late-Onset|Hyperlipemia, Combined Fat and Carbohydrate-Induced|Hyperlipemia, Mixed|Hyperlipidemia, Type V	Apoa5	MGI:1913363	APOA5	Human only
145750	Hypertriglyceridemia, Familial		Apoa5	MGI:1913363	APOA5	Human only
144010	Hypercholesterolemia, Autosomal Dominant, Type B	Apolipoprotein B-100, Familial Defective|Apolipoprotein B-100, Familial Ligand-Defective|Hypercholesterolemia, Familial, Due to Ligand-Defective Apolipoprotein B	Apob	MGI:88052	APOB	Human only
207750	Apolipoprotein C-II Deficiency	APOC2 Deficiency|C-II Anapolipoproteinemia|Hyperlipoproteinemia, Type IB	Apoc2	MGI:88054	APOC2	Human only
104310	Alzheimer Disease 2	Ad2|Alzheimer Disease 2, Late-Onset|Alzheimer Disease Associated with APOE4	Apoe	MGI:88057	APOE	Human only
269600	Sea-Blue Histiocyte Disease	Histiocytosis, Sea-Blue|Sea-Blue Histiocytosis	Apoe	MGI:88057	APOE	Human only
611771	Lipoprotein Glomerulopathy; LPG		Apoe	MGI:88057	APOE	Human only
181500	Schizophrenia; SCZD				APOL1	Human only
612551	Focal Segmental Glomerulosclerosis 4, Susceptibility To; FSGS4				APOL1	Human only
181500	Schizophrenia; SCZD		Apol8	MGI:2444921	APOL2	Human only
181500	Schizophrenia; SCZD				APOL4	Human only
605714	Cerebral Amyloid Angiopathy, App-Related	Amyloidosis, Cerebroarterial, App-Related|Amyloidosis, Hereditary, with Cerebral Hemorrhage, Dutch Variant; HCHWAD|Cerebral Amyloid Angiopathy, App-Related, Arctic Variant|Cerebral Amyloid Angiopathy, App-Related, Dutch Variant|Cerebral Amyloid Angiopathy, App-Related, Flemish Variant|Cerebral Amyloid Angiopathy, App-Related, Iowa Variant|Cerebral Amyloid Angiopathy, App-Related, Italian Variant	App	MGI:88059	APP	Human only
104760	Amyloid Beta A4 Precursor Protein; APP	Amyloid of Aging and Alzheimer Disease; AAA|Cerebral Vascular Amyloid Peptide; CVAP	App	MGI:88059	APP	Human only
208920	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia;	Ataxia-Oculomotor Apraxia 1; AOA1|Ataxia-Oculomotor Apraxia Syndrome; AOA|Ataxia-Telangiectasia-Like Syndrome|Eaoh	Aptx	MGI:1913658	APTX	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Aptx	MGI:1913658	APTX	Human only
312300	Androgen Insensitivity, Partial; PAIS	Androgen Insensitivity, Partial, with or without Breast Cancer|Reifenstein Syndrome	Ar	MGI:88064	AR	Human only
300633	Hypospadias 1, X-Linked; HYSP1		Ar	MGI:88064	AR	Human only
609026	Cataract, Age-Related Cortical, 1; ARCC1				ARCC1	Human only
602483	Auriculocondylar Syndrome	Question Mark Ears Syndrome			ARCODS	Human only
607936	Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like	Arei|Exfoliative Ichthyosis, Autosomal Recessive, Ibs-Like			AREI	Human only
608097	Heterotopia, Periventricular, Autosomal Recessive	Periventricular Heterotopia with Microcephaly, Autosomal Recessive; ARPHM|Periventricular Nodular Heterotopia 2; PVNH2	Arfgef2	MGI:2139354	ARFGEF2	Human only
607785	Juvenile Myelomonocytic Leukemia; JMML		Arhgap26	MGI:1918552	ARHGAP26	Human only
610576	Rho Gtpase-Activating Protein 9; ARHGAP9		Arhgap9	MGI:2143764	ARHGAP9	Human only
608236	Slowed Nerve Conduction Velocity, Autosomal Dominant		Arhgef10	MGI:2444453	ARHGEF10	Human only
601626	Leukemia, Acute Myeloid; AML		Arhgef12	MGI:1916882	ARHGEF12	Human only
300436	Mental Retardation, X-Linked 46; MRX46		Arhgef6	MGI:1920591	ARHGEF6	Human only
300607	Epileptic Encephalopathy, Early Infantile, 8; EIEE8	Hyperekplexia and Epilepsy	Arhgef9	MGI:2442233	ARHGEF9	Human only
612448	Age-Related Hearing Impairment 1; ARHI1	Presbycusis 1			ARHI1	Human only
612976	Age-Related Hearing Impairment 2; ARHI2	Presbycusis 2			ARHI2	Human only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Arl11	MGI:2444054	ARL11	Human only
612291	Joubert Syndrome 8; JBTS8		Arl13b	MGI:1915396	ARL13B	Human only
209900	Bardet-Biedl Syndrome; BBS		Arl6	MGI:1927136	ARL6	Human only
613575	Retinitis Pigmentosa 55; RP55		Arl6	MGI:1927136	ARL6	Human only
302950	Chondrodysplasia Punctata 1, X-Linked Recessive; CDPX1	Chondrodysplasia Punctata, Brachytelephalangic|CPXR			ARSE	Human only
602086	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3; ARVD3	Arrhythmogenic Right Ventricular Cardiomyopathy 3; ARVC3			ARVD3	Human only
602087	Arrhythmogenic Right Ventricular Dysplasia, Familial, 4; ARVD4	Arrhythmogenic Right Ventricular Cardiomyopathy 4; ARVC4			ARVD4	Human only
604401	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6; ARVD6	Arrhythmogenic Right Ventricular Cardiomyopathy 6; ARVC6			ARVD6	Human only
609160	Arrhythmogenic Right Ventricular Dysplasia, Familial, 7; ARVD7	Arrhythmogenic Right Ventricular Cardiomyopathy 7; ARVC7|Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy|Myopathy, Desmin-Related, with Arrhythmogenic Right Ventricular Cardiomyopathy			ARVD7	Human only
300004	Corpus Callosum, Agenesis of, with Abnormal Genitalia	ACC with Abnormal Genitalia|Proud Syndrome	Arx	MGI:1097716	ARX	Human only
300419	Mental Retardation, X-Linked, with or without Seizures, Arx-Related;	Mental Retardation, X-Linked 29; MRX29|Mental Retardation, X-Linked 32; MRX32|Mental Retardation, X-Linked 33; MRX33|Mental Retardation, X-Linked 38; MRX38|Mental Retardation, X-Linked 43; MRX43|Mental Retardation, X-Linked 54; MRX54|Mental Retardation, X-Linked 76; MRX76|Mental Retardation, X-Linked 87; MRX87|Mrxarx	Arx	MGI:1097716	ARX	Human only
309510	Partington X-Linked Mental Retardation Syndrome; PRTS	Mental Retardation, X-Linked 36; MRX36|Mental Retardation, X-Linked, Syndromic 1; MRXS1|Mental Retardation, X-Linked, with Dystonic Movements, Ataxia, and Seizures|Partington Syndrome	Arx	MGI:1097716	ARX	Human only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Ascl1	MGI:96919	ASCL1	Human only
108800	Atrial Septal Defect 1; ASD1				ASD1	Human only
105563	Anal Sphincter Dysplasia; ASDP				ASDP	Human only
611742	Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9	Skin/Hair/Eye Pigmentation 9, Brown/Nonbrown Eyes|Skin/Hair/Eye Pigmentation 9, Dark/Light Hair|Skin/Hair/Eye Pigmentation 9, Freckling and Burning|Skin/Hair/Eye Pigmentation 9, Red/Nonred Hair	a	MGI:87853	ASIP	Human only
107250	Anterior Segment Mesenchymal Dysgenesis; ASMD	Anterior Segment Ocular Dysgenesis; ASOD			ASMD	Human only
608638	Asperger Syndrome, Susceptibility to, 1	ASPG1			ASPG1	Human only
608631	Asperger Syndrome, Susceptibility to, 2	ASPG2			ASPG2	Human only
608781	Asperger Syndrome, Susceptibility to, 3	ASPG3			ASPG3	Human only
609954	Asperger Syndrome, Susceptibility to, 4	Aspg4			ASPG4	Human only
603932	Intervertebral Disc Disease; IDD		Aspn	MGI:1913945	ASPN	Human only
607850	Osteoarthritis Susceptibility 3; OS3	Osteoarthritis of Knee/Hip	Aspn	MGI:1913945	ASPN	Human only
606243	Alveolar Soft Part Sarcoma; ASPS		Aspscr1	MGI:1916188	ASPSCR1	Human only
609958	Asthma-Related Traits, Susceptibility to, 3	Asrt3			ASRT3	Human only
610906	Asthma-Related Traits, Susceptibility to, 4	Asrt4|Asthma and Allergic Rhinitis, Susceptibility to			ASRT4	Human only
611403	Asthma-Related Traits, Susceptibility to, 6	Asrt6			ASRT6	Human only
613207	Asthma-Related Traits, Susceptibility to, 8; ASRT8				ASRT8	Human only
601238	Cerebellar Ataxia, Cayman Type; ATCAY		Atcay	MGI:2448730	ATCAY	Human only
208500	Asphyxiating Thoracic Dystrophy 1; ATD1	Jeune Syndrome|Thoracic-Pelvic-Phalangeal Dystrophy			ATD	Human only
608583	Atrial Fibrillation, Familial, 1; ATFB1	Atrial Fibrillation, Autosomal Dominant			ATFB1	Human only
608988	Atrial Fibrillation, Familial, 2; ATFB2				ATFB3	Human only
611494	Atrial Fibrillation, Familial, 5; ATFB5				ATFB5	Human only
613055	Atrial Fibrillation, Familial, 8; ATFB8				ATFB8	Human only
108725	Atherosclerosis Susceptibility; ATHS	Atherogenic Lipoprotein Phenotype; ALP			ATHS	Human only
608688	Aicar Transformylase/Imp Cyclohydrolase Deficiency	AICA-Ribosuria Due to ATIC Deficiency|ATIC Deficiency	Atic	MGI:1351352	ATIC	Human only
182600	Spastic Paraplegia 3, Autosomal Dominant; SPG3A	Familial Spastic Paraplegia, Autosomal Dominant, 1; FSP1|SPG3|Strumpell Disease	Atl1	MGI:1921241	ATL1	Human only
114480	Breast Cancer		Atm	MGI:107202	ATM	Human only
125370	Dentatorubral-Pallidoluysian Atrophy; DRPLA	Ataxia, Chorea, Seizures, and Dementia|Haw River Syndrome; HRS|Myoclonic Epilepsy with Choreoathetosis|Naito-Oyanagi Disease; NOD	Atn1	MGI:104725	ATN1	Human only
603165	Dermatitis, Atopic	ATOD			ATOD	Human only
603165	Dermatitis, Atopic	ATOD			ATOD3	Human only
605804	Dermatitis, Atopic, 3; ATOD3	Dermatitis, Atopic, with Asthma			ATOD3	Human only
603165	Dermatitis, Atopic	ATOD			ATOD5	Human only
605844	Dermatitis, Atopic, 5; ATOD5				ATOD5	Human only
603165	Dermatitis, Atopic	ATOD			ATOD6	Human only
605845	Dermatitis, Atopic, 6; ATOD6				ATOD6	Human only
613064	Dermatitis, Atopic, 7; ATOD7				ATOD7	Human only
606693	Kufor-Rakeb Syndrome; KRS	Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia; KRPPD|Parkinson Disease 9, Autosomal Recessive; PARK9	Atp13a2	MGI:1922022	ATP13A2	Human only
104290	Alternating Hemiplegia of Childhood		Atp1a2	MGI:88106	ATP1A2	Human only
602481	Migraine, Familial Hemiplegic, 2; FHM2		Atp1a2	MGI:88106	ATP1A2	Human only
128235	Dystonia 12; DYT12	Dystonia-Parkinsonism, Rapid-Onset; RDP	Atp1a3	MGI:88107	ATP1A3	Human only
145500	Hypertension, Essential	EHT	Atp1b1	MGI:88108	ATP1B1	Human only
601003	Brody Myopathy		Atp2a1	MGI:105058	ATP2A1	Human only
101900	Acrokeratosis Verruciformis; AKV	Hopf Disease	Atp2a2	MGI:88110	ATP2A2	Human only
601386	Deafness, Autosomal Recessive 12; DFNB12		Atp2b2	MGI:105368	ATP2B2	Human only
169600	Benign Chronic Pemphigus; BCPM	Hailey-Hailey Disease; HHD|Pemphigus, Benign Familial	Atp2c1	MGI:1889008	ATP2C1	Human only
300423	Mental Retardation, X-Linked, Syndromic, Hedera Type; MRXSH	Mental Retardation, X-Linked, with Epilepsy; MRXE	Atp6ap2	MGI:1917745	ATP6AP2	Human only
219200	Cutis Laxa, Autosomal Recessive, Type IIA; ARCL2A	Arcl2|Cutis Laxa with Bone Dystrophy|Cutis Laxa with Congenital Disorder of Glycosylation|Cutis Laxa with Growth and Developmental Delay|Cutis Laxa with Joint Laxity and Retarded Development|Cutis Laxa, Debre Type	Atp6v0a2	MGI:104855	ATP6V0A2	Human only
278250	Wrinkly Skin Syndrome; WSS		Atp6v0a2	MGI:104855	ATP6V0A2	Human only
602722	Renal Tubular Acidosis, Distal, Autosomal Recessive; RTADR	RTA, Distal, Autosomal Recessive	Atp6v0a4	MGI:2153480	ATP6V0A4	Human only
267300	Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis with Progressive Nerve Deafness|Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness|Rta with Progressive Nerve Deafness	Atp6v1b1	MGI:103285	ATP6V1B1	Human only
300489	Spinal Muscular Atrophy, Distal, X-Linked 3; SMAX3	DSMAX|Spinal Muscular Atrophy, Distal, X-Linked Recessive	Atp7a	MGI:99400	ATP7A	Human only
304150	Occipital Horn Syndrome; OHS	Cutis Laxa, X-Linked, Formerly|EDS IX, Formerly|Eds9, Formerly|Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly	Atp7a	MGI:99400	ATP7A	Human only
211600	Cholestasis, Progressive Familial Intrahepatic, 1; PFIC1	Byler Disease|Cholestasis, Fatal Intrahepatic	Atp8b1	MGI:1859665	ATP8B1	Human only
243300	Cholestasis, Benign Recurrent Intrahepatic, 1; BRIC1	Summerskill Syndrome	Atp8b1	MGI:1859665	ATP8B1	Human only
604273	Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1;	Mc5dn1 Mitochondrial Complex V (atp Synthase) Deficiency, Atpaf2 Type	Atpaf2	MGI:2180561	ATPAF2	Human only
107320	Antiphospholipid Syndrome, Familial	Lupus Anticoagulant, Familial			ATPLS	Human only
300448	Alpha-Thalassemia Myelodysplasia Syndrome; ATMDS	Hemoglobin H Disease, Acquired	Atrx	MGI:103067	ATRX	Human only
309580	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1; MRXHF1	Carpenter-Waziri Syndrome|Chudley-Lowry Syndrome|Holmes-Gang Syndrome|Juberg-Marsidi Syndrome; JMS|Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism|Sfms|Smith-Fineman-Myers Syndrome 1; SFM1|Xlmr-Hypotonic Facies Syndrome	Atrx	MGI:103067	ATRX	Human only
603516	Spinocerebellar Ataxia 10; SCA10		Atxn10	MGI:1859293	ATXN10	Human only
183090	Spinocerebellar Ataxia 2; SCA2	Cerebellar Degeneration with Slow Eye Movements|Olivopontocerebellar Atrophy II; OPCA2|Olivopontocerebellar Atrophy, Holguin Type|Spinocerebellar Ataxia, Cuban Type|Spinocerebellar Atrophy II|Wadia-Swami Syndrome	Atxn2	MGI:1277223	ATXN2	Human only
109150	Machado-Joseph Disease; MJD	Azorean Neurologic Disease|Nigrospinodentatal Degeneration|Spinocerebellar Ataxia 3; SCA3|Spinocerebellar Atrophy III|Spinopontine Atrophy	Atxn3	MGI:1099442	ATXN3	Human only
608768	Spinocerebellar Ataxia 8; SCA8				ATXN8	Human only
608768	Spinocerebellar Ataxia 8; SCA8		Atxn8os	MGI:1891412	ATXN8OS	Human only
250950	3-methylglutaconic Aciduria, Type I; MGCA1	3-methylglutaconyl-Coa Hydratase Deficiency|3-mg-Coa-Hydratase Deficiency|Mga, Type I; MGA1	Auh	MGI:1338011	AUH	Human only
300614	Deafness, X-Linked 5; DFNX5	Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy; AUNX1			AUNX1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Aurka	MGI:894678	AURKA	Human only
243060	Spermatogenic Failure 5; SPGF5	Infertility Associated with Multi-Tailed Spermatozoa and Excessive DNA|Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa	Aurkc	MGI:1321119	AURKC	Human only
209850	Autism				AUTS1	Human only
610836	Autism, Susceptibility to, 11; AUTS11				AUTS11	Human only
610838	Autism, Susceptibility to, 12; AUTS12				AUTS12	Human only
610908	Autism, Susceptibility to, 13; AUTS13				AUTS13	Human only
611913	Chromosome 16p11.2 Deletion Syndrome, 593-Kb				AUTS14	Human only
608049	Autism, Susceptibility to, 3; AUTS3				AUTS3	Human only
606053	Autism, Susceptibility to, 5; AUTS5	Autism-Related Speech Delay|Phrase Speech Delay, Autism-Related			AUTS5	Human only
609378	Autism, Susceptibility to, 6; AUTS6				AUTS6	Human only
610676	Autism, Susceptibility to, 7; AUTS7				AUTS7	Human only
607373	Autism, Susceptibility to, 8; AUTS8	Auts2, Formerly			AUTS8	Human only
300830	Chromosome Xp22 Deletion Syndrome	Autism, Susceptibility to, X-Linked 4; AUTSX4			AUTSX4	Human only
300539	Nephrogenic Syndrome of Inappropriate Antidiuresis; NSIAD		Avpr2	MGI:88123	AVPR2	Human only
600309	Atrioventricular Septal Defect 3; AVSD3				AVSD1	Human only
606215	Atrioventricular Septal Defect; AVSD	Atrioventricular Canal Defect; AVCD|Avc Defect			AVSD1	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Axin1	MGI:1096327	AXIN1	Human only
607864	Caudal Duplication Anomaly		Axin1	MGI:1096327	AXIN1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Axin2	MGI:1270862	AXIN2	Human only
608615	Oligodontia-Colorectal Cancer Syndrome	Tooth Agenesis-Colorectal Cancer Syndrome	Axin2	MGI:1270862	AXIN2	Human only
415000	Spermatogenic Failure, Y-Linked, 2; SPGFY2	Azoospermia, Nonobstructive, Y-Linked|Oligospermia, Nonobstructive, Y-Linked|Oligozoospermia, Nonobstructive, Y-Linked|Spermatogenic Failure, Nonobstructive, Y-Linked			AZF1	Human only
606766	Spermatogenic Failure 3; SPGF3	Azoospermia, Nonobstructive; AZON			AZON	Human only
241600	Hypoproteinemia, Hypercatabolic		B2m	MGI:88127	B2M	Human only
261540	Peters-Plus Syndrome	Krause-Kivlin Syndrome|Peters Anomaly with Short-Limb Dwarfism	B3galtl	MGI:2685903	B3GALTL	Human only
607091	Congenital Disorder of Glycosylation, Type Iid; CDG2D	Cdg Iid; CDGIID	B4galt1	MGI:95705	B4GALT1	Human only
130070	Ehlers-Danlos Syndrome, Progeroid Form	Dermatan Sulfate Proteoglycan|Galactosyltransferase I Deficiency|PDS, Defective Biosynthesis of|Proteodermatan Sulfate, Defective Biosynthesis of|XGPT Deficiency|Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B4galt7	MGI:2384987	B4GALT7	Human only
607748	Hypercholanemia, Familial; FHCA		Baat	MGI:106642	BAAT	Human only
612954	Myopathy, Myofibrillar 6, Mfm6	Myopathy, Myofibrillar, Bag3-Related	Bag3	MGI:1352493	BAG3	Human only
152700	Systemic Lupus Erythematosus; SLE		Bank1	MGI:2442120	BANK1	Human only
209900	Bardet-Biedl Syndrome; BBS		Bbs10	MGI:1919019	BBS10	Human only
209900	Bardet-Biedl Syndrome; BBS		Bbs12	MGI:2686651	BBS12	Human only
209900	Bardet-Biedl Syndrome; BBS		Bbs5	MGI:1919819	BBS5	Human only
209900	Bardet-Biedl Syndrome; BBS		Bbs7	MGI:1918742	BBS7	Human only
209900	Bardet-Biedl Syndrome; BBS		Bbs9	MGI:2442833	BBS9	Human only
605462	Basal Cell Carcinoma, Susceptibility to, 1; BCC1				BCC1	Human only
613058	Basal Cell Carcinoma, Susceptibility to, 2; BCC2				BCC2	Human only
613059	Basal Cell Carcinoma, Susceptibility to, 3; BCC3				BCC3	Human only
613061	Basal Cell Carcinoma, Susceptibility to, 4; BCC4				BCC4	Human only
613062	Basal Cell Carcinoma, Susceptibility to, 5; BCC5				BCC5	Human only
613063	Basal Cell Carcinoma, Susceptibility to, 6; BCC6				BCC6	Human only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Bckdha	MGI:107701	BCKDHA	Human only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Bckdhb	MGI:88137	BCKDHB	Human only
142335	Fetal Hemoglobin Quantitative Trait Locus 5; HBFQTL5		Bcl11a	MGI:106190	BCL11A	Human only
151430	B-Cell Cll/Lymphoma 2; BCL2		Bcl2	MGI:88138	BCL2	Human only
115300	Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant		Bcmo1	MGI:1926923	BCMO1	Human only
300166	Microphthalmia, Syndromic 2; MCOPS2	Anop2, Formerly|Maa2, Formerly|Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects|Oculofaciocardiodental Syndrome|OFCD Syndrome	Bcor	MGI:1918708	BCOR	Human only
608232	Leukemia, Chronic Myeloid; CML	Leukemia, Chronic Myelogenous	Bcr	MGI:88141	BCR	Human only
613065	Leukemia, Acute Lymphoblastic; ALL		Bcr	MGI:88141	BCR	Human only
124000	Mitochondrial Complex III Deficiency		Bcs1l	MGI:1914071	BCS1L	Human only
256000	Leigh Syndrome; LS		Bcs1l	MGI:1914071	BCS1L	Human only
262000	Bjornstad Syndrome; BJS	Pili Torti and Nerve Deafness|PTD	Bcs1l	MGI:1914071	BCS1L	Human only
603358	Gracile Syndrome	Fellman Syndrome|Finnish Lethal Neonatal Metabolic Syndrome; FLNMS|Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death|Lactic Acidosis, Finnish, with Hepatic Hemosiderosis	Bcs1l	MGI:1914071	BCS1L	Human only
112500	Brachydactyly, Type A1; BDA1	Farabee-Type Brachydactyly			BDA1B	Human only
607004	Brachydactyly, Type A1, B	BDA1B			BDA1B	Human only
605913	Bleeding Disorder, East Texas Type	BDET			BDET	Human only
112250	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	Bone Dysplasia with Malignant Fibrous Histiocytoma|Bone Dysplasia with Medullary Fibrosarcoma; BDMF|DMSMFH			BDMF	Human only
600430	Brachydactyly-Mental Retardation Syndrome; BDMR				BDMR	Human only
164230	Obsessive-Compulsive Disorder; OCD		Bdnf	MGI:88145	BDNF	Human only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Bdnf	MGI:88145	BDNF	Human only
606788	Anorexia Nervosa, Susceptibility to, 1; ANON1	AN	Bdnf	MGI:88145	BDNF	Human only
607499	Bulimia Nervosa, Susceptibility to, 1; BULN1	BN	Bdnf	MGI:88145	BDNF	Human only
610269	Bulimia Nervosa, Susceptibility to, 2; BULN2		Bdnf	MGI:88145	BDNF	Human only
612469	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome; WAGRO	Chromosome 11p13-P12 Deletion Syndrome|Wagr Syndrome with Obesity|Wagro Syndrome	Bdnf	MGI:88145	BDNF	Human only
117210	Spinocerebellar Ataxia 31; SCA31	Spinocerebellar Ataxia, 16q22-Linked	Bean1	MGI:1929597	BEAN1	Human only
153870	Macular Dystrophy, Concentric Annular	Macular Dystrophy, Benign Concentric Annular; BCAMD|Mcdca	Best1	MGI:1346332	BEST1	Human only
193220	Vitreoretinochoroidopathy; VRCP	Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract|Vitreoretinochoroidopathy, Autosomal Dominant; ADVIRC	Best1	MGI:1346332	BEST1	Human only
608161	Macular Dystrophy, Vitelliform, Adult-Onset	AVMD|Foveomacular Dystrophy, Adult-Onset, with Choroidal Neovascularization|Foveomacular Dystrophy, Adult-Onset; AOFMD|Vitelliform Macular Dystrophy, Adult-Onset	Best1	MGI:1346332	BEST1	Human only
613194	Retinitis Pigmentosa 50; RP50		Best1	MGI:1346332	BEST1	Human only
142669	Hip Dysplasia, Beukes Type	Beukes Familial Hip Dysplasia; BFHD|BHD|Osteoarthropathy, Premature Degenerative, of Hip			BFHD	Human only
601764	Seizures, Benign Familial Infantile, 1; BFIS1	Convulsions, Benign Familial Infantile, 1; BFIC1			BFIC	Human only
605751	Seizures, Benign Familial Infantile, 2; BFIS2	Convulsions, Benign Familial Infantile, 2; BFIC2			BFIC2	Human only
612627	Seizures, Benign Familial Infantile, 4; BFIS4	Convulsions, Benign Familial Infantile, 4; BFIC4			BFIC4	Human only
611391	Cataract, Cortical, Juvenile-Onset		Bfsp1	MGI:101770	BFSP1	Human only
604219	Cataract, Autosomal Dominant		Bfsp2	MGI:1333828	BFSP2	Human only
611597	Cataract, Autosomal Dominant, Multiple Types 1		Bfsp2	MGI:1333828	BFSP2	Human only
255200	Myopathy, Centronuclear, 2; CNM2	Myopathy, Centronuclear, Autosomal Recessive|Myotubular Myopathy, Autosomal Recessive	Bin1	MGI:108092	BIN1	Human only
613375	Maturity-Onset Diabetes of the Young, Type 11; MODY11		Blk	MGI:88169	BLK	Human only
104300	Alzheimer Disease; AD		Blmh	MGI:1345186	BLMH	Human only
613502	Agammaglobulinemia 4, Autosomal Recessive; AGM4	Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect	Blnk	MGI:96878	BLNK	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Bloc1s3	MGI:2678952	BLOC1S3	Human only
612459	Body Mass Index Quantitative Trait Locus 13; BMIQ13				BMIQ13	Human only
612460	Body Mass Index Quantitative Trait Locus 14; BMIQ14				BMIQ14	Human only
607447	Body Mass Index Quantitative Trait Locus 4; BMIQ4	Obesity, Susceptibility to			BMIQ4	Human only
601665	Obesity				BMIQ8	Human only
603188	Body Mass Index Quantitative Trait Locus 8; BMIQ8	Obesity, Susceptibility to			BMIQ8	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal			BMND7	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal			BMND8	Human only
300510	Ovarian Dysgenesis 2; ODG2	Ovarian Dysgenesis, Hypergonadotropic, X-Linked	Bmp15	MGI:1316745	BMP15	Human only
235200	Hemochromatosis; HFE	Hemochromatosis, Hereditary; HH|HLAH	Bmp2	MGI:88177	BMP2	Human only
600625	Orofacial Cleft 11; OFC11		Bmp4	MGI:88180	BMP4	Human only
607932	Microphthalmia, Syndromic 6; MCOPS6	Anophthalmia, Clinical, with Micrognathia, Malformed Ears, Digital Anomalies, and Abnormal External Genitalia|Microphthalmia and Pituitary Anomalies|Microphthalmia with Brain and Digit Developmental Anomalies	Bmp4	MGI:88180	BMP4	Human only
158350	Cowden Disease; CD	Cowden Syndrome; CS	Bmpr1a	MGI:1338938	BMPR1A	Human only
174900	Juvenile Polyposis Syndrome; JPS	Juvenile Intestinal Polyposis; JIP|Polyposis, Juvenile Intestinal; PJI	Bmpr1a	MGI:1338938	BMPR1A	Human only
610069	Polyposis Syndrome, Hereditary Mixed, 2; HMPS2		Bmpr1a	MGI:1338938	BMPR1A	Human only
612242	Chromosome 10q23 Deletion Syndrome		Bmpr1a	MGI:1338938	BMPR1A	Human only
112600	Brachydactyly, Type A2; BDA2	Brachymesophalangy II|Mohr-Wriedt Type Brachydactyly	Bmpr1b	MGI:107191	BMPR1B	Human only
609441	Chondrodysplasia, Acromesomelic, with Genital Anomalies		Bmpr1b	MGI:107191	BMPR1B	Human only
178600	Pulmonary Hypertension, Primary, 1; PPH1	PHT	Bmpr2	MGI:1095407	BMPR2	Human only
265450	Pulmonary Venoocclusive Disease; PVOD		Bmpr2	MGI:1095407	BMPR2	Human only
612691	Polymicrogyria, Bilateral Occipital				BOP	Human only
120502	Branchiootic Syndrome 2	BO Syndrome 2; BOS2			BOS2	Human only
222800	Bisphosphoglycerate Mutase Deficiency	Bisphosphoglyceromutase Deficiency|Bpgm Deficiency|Diphosphoglycerate Mutase Deficiency of Erythrocyte|DPGM Deficiency	Bpgm	MGI:1098242	BPGM	Human only
193007	Vertigo, Benign Recurrent; BRV	Vertigo, Benign Paroxysmal Positional; BPPV			BPPV	Human only
211980	Lung Cancer		Braf	MGI:88190	BRAF	Human only
613706	Noonan Syndrome 7; NS7		Braf	MGI:88190	BRAF	Human only
613707	Leopard Syndrome 3		Braf	MGI:88190	BRAF	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Brca1	MGI:104537	BRCA1	Human only
137800	Glioma Susceptibility 1; GLM1		Brca2	MGI:109337	BRCA2	Human only
194070	Wilms Tumor 1; WT1	Nephroblastoma	Brca2	MGI:109337	BRCA2	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Brca2	MGI:109337	BRCA2	Human only
612555	Breast-Ovarian Cancer, Familial, Susceptibility to, 2; BROVCA2		Brca2	MGI:109337	BRCA2	Human only
613029	Glioma Susceptibility 3; GLM3		Brca2	MGI:109337	BRCA2	Human only
613347	Pancreatic Cancer, Susceptibility to, 2	Pnca2	Brca2	MGI:109337	BRCA2	Human only
605365	Breast Cancer 3; BRCA3	BRCAX			BRCA3	Human only
600048	Breast Cancer, 11-22 Translocation-Associated	BRCATA			BRCATA	Human only
114450	Cancer, Familial, with in Vitro Radioresistance				BRCD1	Human only
300404	Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia	Bresek Syndrome|Bresheck Syndrome			BRESEK	Human only
114480	Breast Cancer		Brip1	MGI:2442836	BRIP1	Human only
609054	Fanconi Anemia, Complementation Group J; FANCJ		Brip1	MGI:2442836	BRIP1	Human only
259450	Bruck Syndrome 1; BRKS1	Osteogenesis Imperfecta with Congenital Joint Contractures			BRKS	Human only
613106	Vertigo, Benign Recurrent, 2; BRV2				BRV2	Human only
300659	Mental Retardation, X-Linked 93; MRX93	Mental Retardation, X-Linked, with Macrocephaly	Brwd3	MGI:3029414	BRWD3	Human only
270685	Spastic Paraplegia 17; SPG17	Silver Spastic Paraplegia Syndrome|Silver Syndrome|Spastic Paraplegia with Amyotrophy of Hands and Feet	Bscl2	MGI:1298392	BSCL2	Human only
600794	Neuronopathy, Distal Hereditary Motor, Type V; HMN5	Dhmn V|Dhmn5|HMN V|Neuropathy, Distal Hereditary Motor, Type V|Spinal Muscular Atrophy, Distal, Type V; DSMAV|Spinal Muscular Atrophy, Distal, with Upper Limb Predominance	Bscl2	MGI:1298392	BSCL2	Human only
611185	Restless Legs Syndrome, Susceptibility to, 6	Periodic Limb Movements in Sleep|Rls6	Btbd9	MGI:1916625	BTBD9	Human only
307200	Isolated Growth Hormone Deficiency, Type III; IGHD3	Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked|Fleisher Syndrome|Growth Hormone Deficiency with Hypogammaglobulinemia|Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked|IGHD III	Btk	MGI:88216	BTK	Human only
181000	Sarcoidosis, Susceptibility to, 1; SS1	Boeck Sarcoid|Sarcoidosis	Btnl2	MGI:1859549	BTNL2	Human only
612387	Sarcoidosis, Susceptibility to, 2; SS2		Btnl2	MGI:1859549	BTNL2	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Bub1b	MGI:1333889	BUB1B	Human only
176430	Premature Chromatid Separation Trait; PCS	Total Premature Chromatid Separation Trait	Bub1b	MGI:1333889	BUB1B	Human only
257300	Mosaic Variegated Aneuploidy Syndrome 1; MVA1	MVA Syndrome	Bub1b	MGI:1333889	BUB1B	Human only
607499	Bulimia Nervosa, Susceptibility to, 1; BULN1	BN			BULN	Human only
613459	Birth Weight Quantitative Trait Locus 2; BWQTL2				BWQTL2	Human only
301845	Bazex Syndrome; BZX	Bazex-Dupre-Christol Syndrome; BDCS|Follicular Atrophoderma and Basal Cell Carcinomas			BZX	Human only
251880	Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3		Peo1	MGI:2137410	C10orf2	Human only
271245	Mitochondrial DNA Depletion Syndrome 7 (hepatocerebral Type); MTDPS7	OHAHA Syndrome|Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis|Spinocerebellar Ataxia 8, Formerly; SCA8, FORMERLY|Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy|Spinocerebellar Ataxia, Infantile-Onset; IOSCA	Peo1	MGI:2137410	C10orf2	Human only
607459	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; SANDO		Peo1	MGI:2137410	C10orf2	Human only
609286	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3; PEOA3	Progressive External Ophthalmoplegia, Autosomal Dominant, 3	Peo1	MGI:2137410	C10orf2	Human only
613559	Combined Oxidative Phosphorylation Deficiency 7; COXPD7		2810006K23Rik	MGI:1919900	C12orf65	Human only
613404	Arthrogryposis, Renal Dysfunction, and Cholestasis 2; ARCS2		Vipar	MGI:2144805	C14orf133	Human only
604173	Poikiloderma with Neutropenia; PN	Poikiloderma with Neutropenia, Clericuzio-Type	AA960436	MGI:2142454	C16orf57	Human only
300622	Tn Syndrome	Galactosyltransferase Deficiency	C1galt1c1	MGI:1913493	C1GALT1C1	Human only
216950	Complement Component C1r/C1s Deficiency	C1r/C1s Deficiency	C1ra	MGI:1355313	C1R	Human only
217000	Complement Component 2 Deficiency; C2D	C2 Deficiency	C2	MGI:88226	C2	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	C2	MGI:88226	C2	Human only
211500	Fazio-Londe Disease	Bulbar Palsy, Progressive, of Childhood	2310046K01Rik	MGI:1916948	C20orf54	Human only
211530	Brown-Vialetto-Van Laere Syndrome; BVVLS	Bulbar Palsy, Progressive, with Sensorineural Deafness|Pontobulbar Palsy with Deafness	2310046K01Rik	MGI:1916948	C20orf54	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	2310003L22Rik	MGI:1916737	C20orf7	Human only
611867	Chromosome 22q11.2 Deletion Syndrome, Distal	Distal Chromosome 22q11.2 Deletion Syndrome			C22DDELS	Human only
268000	Retinitis Pigmentosa; RP		BC027072	MGI:2385061	C2orf71	Human only
613428	Retinitis Pigmentosa 54; RP54		BC027072	MGI:2385061	C2orf71	Human only
611378	Macular Degeneration, Age-Related, 9; ARMD9		C3	MGI:88227	C3	Human only
612925	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5; AHUS5	Ahus, Susceptibility to, 5	C3	MGI:88227	C3	Human only
152700	Systemic Lupus Erythematosus; SLE		C4a	MGI:98320	C4A	Human only
609536	Complement Component 5 Deficiency; C5D	C5 Deficiency	Hc	MGI:96031	C5	Human only
612446	Complement Component 6 Deficiency; C6D		C6	MGI:88233	C6	Human only
610102	Complement Component 7 Deficiency; C7D	C7 Deficiency	C7	MGI:88235	C7	Human only
234050	Trichothiodystrophy, Nonphotosensitive 1; TTDN1	Amish Brittle Hair Brain Syndrome; ABHS|BIDS Syndrome|Hair-Brain Syndrome	2810021B07Rik	MGI:1913558	C7orf11	Human only
613790	Complement Component 8 Deficiency, Type I; C8D1	C8 Alpha-Gamma Deficiency|C8 Deficiency, Type I|C8ag Deficiency	C8a	MGI:2668347	C8A	Human only
613789	Complement Component 8 Deficiency, Type II; C8D2	C8 Beta Deficiency|C8 Deficiency, Type II|C8b Deficiency|Complement Component 8b Deficiency	C8b	MGI:88236	C8B	Human only
256000	Leigh Syndrome; LS		2310030N02Rik	MGI:1924197	C8orf38	Human only
143860	Hyperchlorhidrosis, Isolated		Car12	MGI:1923709	CA12	Human only
600852	Retinitis Pigmentosa 17; RP17		Car4	MGI:1096574	CA4	Human only
613227	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3; CAMRQ3	Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion 3	Car8	MGI:88253	CA8	Human only
607842	Aural Atresia, Congenital; CAA				CAA	Human only
610427	Night Blindness, Congenital Stationary, Type 2B; CSNB2B	Csnb, Incomplete, Autosomal Recessive|Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive	Cabp4	MGI:1920910	CABP4	Human only
215500	Choroidal Dystrophy, Central Areolar 1; CACD1	Choroidal Dystrophy, Central Areolar; CACD|Choroidal Sclerosis			CACD	Human only
108500	Episodic Ataxia, Type 2; EA2	Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; APCA|Ataxia, Episodic, with Nystagmus|Ataxia, Familial Paroxysmal|Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; CAPA|Cerebellopathy, Hereditary Paroxysmal|Episodic Ataxia, Nystagmus-Associated	Cacna1a	MGI:109482	CACNA1A	Human only
183086	Spinocerebellar Ataxia 6; SCA6		Cacna1a	MGI:109482	CACNA1A	Human only
611875	Brugada Syndrome 3; BRGDA3		Cacna1c	MGI:103013	CACNA1C	Human only
300476	Cone-Rod Dystrophy, X-Linked, 3; CORDX3		Cacna1f	MGI:1859639	CACNA1F	Human only
300600	Aland Island Eye Disease; AIED	Forsius-Eriksson Type Ocular Albinism	Cacna1f	MGI:1859639	CACNA1F	Human only
611942	Epilepsy, Childhood Absence, Susceptibility to, 6; ECA6		Cacna1h	MGI:1928842	CACNA1H	Human only
170400	Hypokalemic Periodic Paralysis, Type 1; HOKPP1	Hypokalemic Periodic Paralysis; HOKPP	Cacna1s	MGI:88294	CACNA1S	Human only
188580	Thyrotoxic Periodic Paralysis, Susceptibility to, 1; TTPP1		Cacna1s	MGI:88294	CACNA1S	Human only
601887	Malignant Hyperthermia, Susceptibility to, 5	MHS5	Cacna1s	MGI:88294	CACNA1S	Human only
610478	Retinal Cone Dystrophy 4; RCD4		Cacna2d4	MGI:2442632	CACNA2D4	Human only
611876	Brugada Syndrome 4; BRGDA4		Cacnb2	MGI:894644	CACNB2	Human only
254770	Epilepsy, Myoclonic Juvenile; EJM	Myoclonic Epilepsy, Juvenile; JME|Petit Mal, Impulsive	Cacnb4	MGI:103301	CACNB4	Human only
600669	Epilepsy, Idiopathic Generalized; EIG		Cacnb4	MGI:103301	CACNB4	Human only
607682	Epilepsy, Idiopathic Generalized, Susceptibility to, 9; EIG9		Cacnb4	MGI:103301	CACNB4	Human only
613855	Episodic Ataxia, Type 5; EA5		Cacnb4	MGI:103301	CACNB4	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Calcr	MGI:101950	CALCR	Human only
114200	Camptodactyly 1; CAMPD1				CAMPD1	Human only
114580	Candidiasis, Familial, 1; CANDF1	Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, with or without Thyroid Disease|Cmct			CANDF1	Human only
607644	Candidiasis, Familial, 3; CANDF3	Candidiasis, Familial Chronic Nail, with Icam1 Deficiency; CANDN1|FCNC			CANDN1	Human only
251450	Desbuquois Dysplasia; DBQD	Desbuquois Syndrome	Cant1	MGI:1923275	CANT1	Human only
601283	Diabetes Mellitus, Noninsulin-Dependent, 1; NIDDM1	Noninsulin-Dependent Diabetes Mellitus 1	Capn10	MGI:1344392	CAPN10	Human only
606771	Adiponectin, Serum Level of, Quantitative Trait Locus 3; ADIPQTL3	Circulating Adiponectin Quantitative Trait Locus on Chromosome 14; CAQ14			CAQ14	Human only
606770	Adiponectin, Serum Level of, Quantitative Trait Locus 2; ADIPQTL2	Circulating Adiponectin Quantitative Trait Locus on Chromosome 5; CAQ5			CAQ5	Human only
212050	Candidiasis, Familial, 2; CANDF2	Candidiasis, Familial Chronic Mucocutaneous, Autosomal Recessive	Card9	MGI:2685628	CARD9	Human only
601665	Obesity		Cartpt	MGI:1351330	CARTPT	Human only
300422	Fg Syndrome 4; FGS4		Cask	MGI:1309489	CASK	Human only
300749	Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia	Micpch|Micpch Syndrome	Cask	MGI:1309489	CASK	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC				CASP10	Human only
603909	Autoimmune Lymphoproliferative Syndrome, Type IIA; ALPS2A				CASP10	Human only
605027	Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma; NHL			CASP10	Human only
114480	Breast Cancer		Casp8	MGI:1261423	CASP8	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Casp8	MGI:1261423	CASP8	Human only
211980	Lung Cancer		Casp8	MGI:1261423	CASP8	Human only
604772	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy; CPVT1	Ventricular Tachycardia, Stress-Induced Polymorphic; VTSIP	Casq2	MGI:1309469	CASQ2	Human only
146200	Hypoparathyroidism, Familial Isolated; FIH	Hypocalcemia, Autosomal Dominant|Hypocalcemia, Familial|Hypoparathyroidism, Autosomal Dominant	Casr	MGI:1351351	CASR	Human only
601199	Calcium-Sensing Receptor; CASR		Casr	MGI:1351351	CASR	Human only
612899	Epilepsy, Idiopathic Generalized, Susceptibility to, 8; EIG8		Casr	MGI:1351351	CASR	Human only
612968	Cataract, Autosomal Recessive Congenital 3; CATC3				CATC3	Human only
609376	Cataract, Congenital Nuclear, Autosomal Recessive 1; CATCN1				CATCN1	Human only
156850	Microphthalmia, Isolated, with Cataract 1; MCOPCT1	Cataract, Congenital, with Microphthalmia			CATM	Human only
612997	Spermatogenic Failure 7; SPGF7	Male Infertility, Nonsyndromic, Autosomal Recessive; MIAR	Catsper1	MGI:2179947	CATSPER1	Human only
612526	Lipodystrophy, Congenital Generalized, Type 3; CGL3	Berardinelli-Seip Congenital Lipodystrophy, Type 3; BSCL3|Lipodystrophy, Berardinelli-Seip Congenital, Type 3	Cav1	MGI:102709	CAV1	Human only
123320	Creatine Phosphokinase, Elevated Serum	CPK, Elevated Serum|Hyperckemia, Idiopathic	Cav3	MGI:107570	CAV3	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Cav3	MGI:107570	CAV3	Human only
606072	Rippling Muscle Disease; RMD		Cav3	MGI:107570	CAV3	Human only
611818	Long Qt Syndrome 9; LQT9		Cav3	MGI:107570	CAV3	Human only
121360	Core-Binding Factor, Beta Subunit; CBFB		Cbfb	MGI:99851	CBFB	Human only
613563	Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL	Cbl Mutation-Associated Syndrome|Cbl Syndrome	Cbl	MGI:88279	CBL	Human only
613080	46,xy Sex Reversal 5; SRXY5	46,xy Gonadal Dysgenesis, Complete, Cbx2-Related|46,xy Sex Reversal, Cbx2-Related|Disorder of Sex Development, 46,xy, Cbx2-Related|Sex Reversal, Xy, Cbx2-Related	Cbx2	MGI:88289	CBX2	Human only
608443	Mental Retardation, Autosomal Recessive 3; MRT3		Cc2d1a	MGI:2384831	CC2D1A	Human only
216360	COACH Syndrome	Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis|Joubert Syndrome with Congenital Hepatic Fibrosis	Cc2d2a	MGI:1924487	CC2D2A	Human only
612284	Meckel Syndrome, Type 6; MKS6		Cc2d2a	MGI:1924487	CC2D2A	Human only
612285	Joubert Syndrome 9; JBTS9		Cc2d2a	MGI:1924487	CC2D2A	Human only
115660	Cataract, Congenital, Cerulean Type, 1; CCA1	Cataract, Congenital, 'blue Dot' Type, 1			CCA1	Human only
600668	Chondrocalcinosis 1; CCAL1	Chondrocalcinosis with Early-Onset Osteoarthritis			CCAL1	Human only
235510	Hennekam Lymphangiectasia-Lymphedema Syndrome	Lymphatic Dysplasia, Generalized	Ccbe1	MGI:2445053	CCBE1	Human only
607453	Deafness, Autosomal Dominant 44; DFNA44		Ccdc50	MGI:1914751	CCDC50	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Ccdc6	MGI:1923801	CCDC6	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Ccl11	MGI:103576	CCL11	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Ccl11	MGI:103576	CCL11	Human only
182940	Neural Tube Defects		Ccl2	MGI:98259	CCL2	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Ccl2	MGI:98259	CCL2	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Ccl2	MGI:98259	CCL2	Human only
158105	Chemokine, Cc Motif, Ligand 2; CCL2	Monocyte Chemotactic Protein 1; MCP1|Small Inducible Cytokine A2; SCYA2	Ccl2	MGI:98259	CCL2	Human only
610247	Esophagitis, Eosinophilic, 1; EOE1	Esophagitis, Eosinophilic; EE	Ccl26	MGI:3589281	CCL26	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Ccl3	MGI:98260	CCL3	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to				CCL3L1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Ccnd1	MGI:88313	CCND1	Human only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	Ccnd1	MGI:88313	CCND1	Human only
193300	Von Hippel-Lindau Syndrome; VHL		Ccnd1	MGI:88313	CCND1	Human only
254500	Myeloma, Multiple		Ccnd1	MGI:88313	CCND1	Human only
607304	Cataract, Nuclear Progressive	Cataract, Congenital, Nuclear Progressive; CCNP			CCNP	Human only
605728	Cataract, Central Saccular, with Sutural Opacities	Cataract, Central Pouch-Like, with Sutural Opacities|CCSSO			CCPSO	Human only
609532	Hepatitis C Virus, Susceptibility to		Ccr5	MGI:107182	CCR5	Human only
610379	West Nile Virus, Susceptibility to	Wnv, Susceptibility to	Ccr5	MGI:107182	CCR5	Human only
612522	Diabetes Mellitus, Insulin-Dependent, 22; IDDM22		Ccr5	MGI:107182	CCR5	Human only
302200	Cataract, Congenital, X-Linked; CXN	Cataract, Congenital Total, with Posterior Sutural Opacities in Heterozygotes; CCT			CCT	Human only
256840	Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive		Cct5	MGI:107185	CCT5	Human only
115665	Cataract, Congenital, Volkmann Type; CCV				CCV	Human only
613493	Immunodeficiency, Common Variable, 3; CVID3	Antibody Deficiency Due to Cd19 Defect	Cd19	MGI:88319	CD19	Human only
613393	Birbeck Granule Deficiency	Birbeck Granules, Absence of	Cd207	MGI:2180021	CD207	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Cd209a	MGI:2157942	CD209	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Cd209a	MGI:2157942	CD209	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		Cd24a	MGI:88323	CD24	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Cd244	MGI:109294	CD244	Human only
610163	Immunodeficiency Due to Defect in Cd3-Zeta		Cd247	MGI:88334	CD247	Human only
613646	Methylmalonic Aciduria Due to Transcobalamin Receptor Defect	Methylmalonic Acidemia, Tcblr Type	Cd320	MGI:1860083	CD320	Human only
248310	Plasmodium Falciparum Blood Infection Level	Pfbi|Plasmodium Falciparum Parasitemia	Cd36	MGI:107899	CD36	Human only
610938	Coronary Heart Disease, Susceptibility to, 7	Chds7	Cd36	MGI:107899	CD36	Human only
611162	Malaria, Susceptibility to		Cd36	MGI:107899	CD36	Human only
600802	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Cd3d	MGI:88331	CD3D	Human only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Cd3d	MGI:88331	CD3D	Human only
186830	CD3 Antigen, Epsilon Subunit; CD3E	CD3-Epsilon	Cd3e	MGI:88332	CD3E	Human only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Cd3e	MGI:88332	CD3E	Human only
186740	CD3 Antigen, Gamma Subunit; CD3G	CD3-Gamma	Cd3g	MGI:88333	CD3G	Human only
606843	Immunodeficiency with Hyper-Igm, Type 3; HIGM3	Hyper-Igm Syndrome 3	Cd40	MGI:88336	CD40	Human only
308230	Immunodeficiency with Hyper-IgM, Type 1; HIGM1	Hyper-Igm Immunodeficiency, X-Linked; XHIM|Hyper-Igm Syndrome 1|Hyper-Igm Syndrome; HIGM; IHIS	Cd40lg	MGI:88337	CD40LG	Human only
235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1		Cd46	MGI:1203290	CD46	Human only
612922	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2; AHUS2	Ahus, Susceptibility to, 2	Cd46	MGI:1203290	CD46	Human only
612300	Cd59 Deficiency		Cd59b	MGI:1888996	CD59	Human only
613501	Agammaglobulinemia 3, Autosomal Recessive; AGM3	Agammaglobulinemia, Autosomal Recessive, Due to Cd79a Defect	Cd79a	MGI:101774	CD79A	Human only
612692	Agammaglobulinemia 6, Autosomal Recessive; AGM6	Agammaglobulinemia, Autosomal Recessive, Due to Cd79b Defect	Cd79b	MGI:96431	CD79B	Human only
613496	Immunodeficiency, Common Variable, 6; CVID6	Antibody Deficiency Due to Cd81 Defect	Cd81	MGI:1096398	CD81	Human only
176807	Prostate Cancer		Cd82	MGI:104651	CD82	Human only
608957	CD8 Deficiency, Familial		Cd8a	MGI:88346	CD8A	Human only
211750	C Syndrome	Opitz Trigonocephaly Syndrome|Trigonocephaly Syndrome	Cd96	MGI:1934368	CD96	Human only
605039	Bohring-Opitz Syndrome; BOPS	Bohring Syndrome|C-Like Syndrome|Opitz Trigonocephaly-Like Syndrome	Cd96	MGI:1934368	CD96	Human only
603116	Cdags Syndrome	CAP Syndrome|Craniosynostosis, Anal Anomalies, and Porokeratosis			CDAGS	Human only
224120	Anemia, Dyserythropoietic Congenital, Type I; CDAN1	CDA I|Dyserythropoietic Anemia, Congenital, Type I	Cdan1	MGI:1916218	CDAN1	Human only
105600	Anemia, Dyserythropoietic Congenital, Type III; CDAN3	Anemia with Multinucleated Erythroblasts|CDA III|Dyserythropoietic Anemia, Congenital, Type III|Erythroreticulosis, Hereditary Benign			CDAN3	Human only
602082	Corneal Dystrophy of Bowman Layer, Type II; CDB2	Corneal Dystrophy, Honeycomb-Shaped|Corneal Dystrophy, Thiel-Behnke Type; CDTB|Thiel-Behnke Corneal Dystrophy; TBCD			CDB2	Human only
613805	Meier-Gorlin Syndrome 5; MGORS5		Cdc6	MGI:1345150	CDC6	Human only
145000	Hyperparathyroidism 1; HRPT1		Cdc73	MGI:2384876	CDC73	Human only
145001	Hyperparathyroidism 2; HRPT2	Hyperparathyroidism, Familial Primary, with Multiple Ossifying Jaw Fibromas	Cdc73	MGI:2384876	CDC73	Human only
608266	Parathyroid Carcinoma	PRTC	Cdc73	MGI:2384876	CDC73	Human only
114480	Breast Cancer		Cdh1	MGI:88354	CDH1	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Cdh1	MGI:88354	CDH1	Human only
167000	Ovarian Cancer		Cdh1	MGI:88354	CDH1	Human only
176807	Prostate Cancer		Cdh1	MGI:88354	CDH1	Human only
608089	Endometrial Cancer		Cdh1	MGI:88354	CDH1	Human only
612580	Mental Retardation, Autosomal Dominant 3; MRD3		Cdh15	MGI:106672	CDH15	Human only
225280	EEM Syndrome	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy	Cdh3	MGI:88356	CDH3	Human only
601553	Hypotrichosis, Congenital, with Juvenile Macular Dystrophy; HJMD	Hypotrichosis with Cone-Rod Dystrophy	Cdh3	MGI:88356	CDH3	Human only
613660	Cone-Rod Dystrophy 15; CORD15		Cdhr1	MGI:2157782	CDHR1	Human only
609048	Melanoma, Cutaneous Malignant, Susceptibility to, 3; CMM3		Cdk4	MGI:88357	CDK4	Human only
604804	Microcephaly 3, Primary, Autosomal Recessive; MCPH3		Cdk5rap2	MGI:2384875	CDK5RAP2	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Cdkal1	MGI:1921765	CDKAL1	Human only
105830	Angelman Syndrome; AS		Cdkl5	MGI:1278336	CDKL5	Human only
308350	Epileptic Encephalopathy, Early Infantile, 1; EIEE1	Infantile Epileptic-Dyskinetic Encephalopathy|Infantile Spasm Syndrome, X-Linked 1; ISSX1|Ohtahara Syndrome, X-Linked|West Syndrome, X-Linked|Xmesid	Cdkl5	MGI:1278336	CDKL5	Human only
312750	Rett Syndrome; RTT	RTS	Cdkl5	MGI:1278336	CDKL5	Human only
300672	Epileptic Encephalopathy, Early Infantile, 2; EIEE2	Infantile Spasm Syndrome, X-Linked 2; ISSX2|Rett Syndrome, Atypical, Cdkl5-Related|Rett Syndrome, Variant, with Infantile Spasms	Cdkl5	MGI:1278336	CDKL5	Human only
610755	Multiple Endocrine Neoplasia, Type IV; MEN4		Cdkn1b	MGI:104565	CDKN1B	Human only
151623	Li-Fraumeni Syndrome 1; LFS1	Sarcoma Family Syndrome of Li and Fraumeni	Cdkn2a	MGI:104738	CDKN2A	Human only
155601	Melanoma, Cutaneous Malignant, Susceptibility to, 2; CMM2		Cdkn2a	MGI:104738	CDKN2A	Human only
155755	Melanoma-Astrocytoma Syndrome	Melanoma and Neural System Tumor Syndrome	Cdkn2a	MGI:104738	CDKN2A	Human only
606719	Melanoma-Pancreatic Cancer Syndrome	Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome; FAMMMPC	Cdkn2a	MGI:104738	CDKN2A	Human only
602197	Cerebellar Degeneration-Related Autoantigen 3	CDR3	Cdr3	MGI:1100884	CDR3	Human only
146520	Hypotrichosis 2; HYPT2	HTSS|Hypotrichosis Simplex of the Scalp 1; HTSS1|Hypotrichosis, Spanish Type	Cdsn	MGI:3505689	CDSN	Human only
613804	Meier-Gorlin Syndrome 4; MGORS4		Cdt1	MGI:1914427	CDT1	Human only
245480	Specific Granule Deficiency; SGD	Lactoferrin-Deficient Neutrophils|Neutrophil Lactoferrin Deficiency	Cebpe	MGI:103572	CEBPE	Human only
115470	Cat Eye Syndrome; CES	Chromosome 22 Partial Tetrasomy|Inv Dup(22)(q11)|Schmid-Fraccaro Syndrome			CECR	Human only
609812	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction;	Diabetes and Pancreatic Exocrine Dysfunction; DPED|Diabetes-Pancreatic Exocrine Dysfunction Syndrome|Mody8	Cel	MGI:88374	CEL	Human only
612008	Celiac Disease, Susceptibility to, 10; CELIAC10	Gluten-Sensitive Enteropathy, Susceptibility to, 10			CELIAC10	Human only
612009	Celiac Disease, Susceptibility to, 11; CELIAC11	Gluten-Sensitive Enteropathy, Susceptibility to, 11			CELIAC11	Human only
612010	Celiac Disease, Susceptibility to, 12; CELIAC12	Gluten-Sensitive Enteropathy, Susceptibility to, 12			CELIAC12	Human only
612011	Celiac Disease, Susceptibility to, 13; CELIAC13	Gluten-Sensitive Enteropathy, Susceptibility to, 13			CELIAC13	Human only
609754	Celiac Disease, Susceptibility to, 2; CELIAC2	Gluten-Sensitive Enteropathy, Susceptibility to, 2			CELIAC2	Human only
607202	Celiac Disease, Susceptibility to, 5; CELIAC5	Gluten-Sensitive Enteropathy, Susceptibility to, 5|GSES			CELIAC5	Human only
611598	Celiac Disease, Susceptibility to, 6; CELIAC6				CELIAC6	Human only
612005	Celiac Disease, Susceptibility to, 7; CELIAC7	Gluten-Sensitive Enteropathy, Susceptibility to, 7			CELIAC7	Human only
612006	Celiac Disease, Susceptibility to, 8; CELIAC8	Gluten-Sensitive Enteropathy, Susceptibility to, 8			CELIAC8	Human only
612007	Celiac Disease, Susceptibility to, 9; CELIAC9	Gluten-Sensitive Enteropathy, Susceptibility to, 9			CELIAC9	Human only
608393	Microcephaly 6, Primary, Autosomal Recessive; MCPH6		Cenpj	MGI:2684927	CENPJ	Human only
613676	Seckel Syndrome 4; SCKL4		Cenpj	MGI:2684927	CENPJ	Human only
604321	Microcephaly 4, Primary, Autosomal Recessive; MCPH4		Cep152	MGI:2139083	CEP152	Human only
209900	Bardet-Biedl Syndrome; BBS		Cep290	MGI:2384917	CEP290	Human only
610189	Senior-Loken Syndrome 6; SLSN6		Cep290	MGI:2384917	CEP290	Human only
611134	Meckel Syndrome, Type 4; MKS4		Cep290	MGI:2384917	CEP290	Human only
611755	Leber Congenital Amaurosis 10; LCA10		Cep290	MGI:2384917	CEP290	Human only
608380	Retinitis Pigmentosa 26; RP26		Cerkl	MGI:3037816	CERKL	Human only
114835	Carboxylesterase 1; CES1	Carboxylesterase 2, Formerly; CES2, FORMERLY|Carboxylesterase, Liver|Serine Esterase 1; SES1|Triacylglycerol Hydrolase; TGH	Ces1g	MGI:88378	CES1	Human only
143470	Hyperalphalipoproteinemia 1; HALP1	Cholesterol Ester Transfer Protein Deficiency			CETP	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Cfb	MGI:105975	CFB	Human only
138470	Complement Factor B; CFB	C3 Proaccelerator|C3 Proactivator|Factor B, Properdin|Factor B; FB|Properdin Factor B; BF	Cfb	MGI:105975	CFB	Human only
612924	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4; AHUS4	Ahus, Susceptibility to, 4	Cfb	MGI:105975	CFB	Human only
605376	Heterotaxy, Visceral, 2, Autosomal; HTX2	HTX	Cfc1	MGI:109448	CFC1	Human only
126700	Basal Laminar Drusen	Drusen of Bruch Membrane|Drusen, Cuticular|Drusen, Early Adult-Onset, Grouped	Cfh	MGI:88385	CFH	Human only
235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1		Cfh	MGI:88385	CFH	Human only
609814	Complement Factor H Deficiency; CFHD	Cfh Deficiency|Factor H Deficiency	Cfh	MGI:88385	CFH	Human only
610698	Macular Degeneration, Age-Related, 4; ARMD4		Cfh	MGI:88385	CFH	Human only
235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1		Cfhr1	MGI:2138169	CFHR1	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Cfhr1	MGI:2138169	CFHR1	Human only
235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1				CFHR3	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1			CFHR3	Human only
235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1; AHUS1		Cfi	MGI:105937	CFI	Human only
610984	Complement Factor I Deficiency; CFID	C3 Inactivator Deficiency|Complement Component 3 Inactivator Deficiency	Cfi	MGI:105937	CFI	Human only
612923	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3; AHUS3	Ahus, Susceptibility to, 3	Cfi	MGI:105937	CFI	Human only
610687	Nemaline Myopathy 7; NEM7		Cfl2	MGI:101763	CFL2	Human only
603855	Cystic Fibrosis, Modifier of, 1; CFM1		Cfm1	MGI:106062	CFM1	Human only
312060	Properdin Deficiency, X-Linked; CFPD	Complement Factor Properdin Deficiency|Properdin P Factor Deficiency; PFD	Cfp	MGI:97545	CFP	Human only
300712	Craniofacioskeletal Syndrome				CFSS	Human only
300580	Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked; CFTDX				CFTDX	Human only
167800	Pancreatitis, Hereditary; PCTT	HP|HPC	Cftr	MGI:88388	CFTR	Human only
211400	Bronchiectasis with or without Elevated Sweat Chloride 1; BESC1	Cystic Fibrosis-Like Syndrome	Cftr	MGI:88388	CFTR	Human only
277180	Vas Deferens, Congenital Bilateral Aplasia Of; CBAVD	CAVD	Cftr	MGI:88388	CFTR	Human only
300082	Cognitive Function 1, Social; CGF1	Social Cognition			CGF1	Human only
254210	Myasthenic Syndrome, Congenital, Associated with Episodic Apnea	Cms Ia2|CMS-EA|Congenital Myasthenic Syndrome Type Ia2; CMS1A2|Myasthenia Gravis, Familial Infantile, 2, Formerly; FIMG2, FORMERLY|Myasthenia, Familial Infantile; FIM|Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea	Chat	MGI:88392	CHAT	Human only
608901	Coronary Heart Disease, Susceptibility to, 5	Chds5|Coronary Artery Disease, Early-Onset	Chd5	MGI:3036258	CHD5	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Chd7	MGI:2444748	CHD7	Human only
608765	Scoliosis, Idiopathic, Susceptibility to, 3; IS3		Chd7	MGI:2444748	CHD7	Human only
612370	Kallmann Syndrome 5; KAL5		Chd7	MGI:2444748	CHD7	Human only
215400	Chordoma, Susceptibility To; CHDM				CHDM	Human only
607339	Coronary Heart Disease, Susceptibility to, 1	CHDS1			CHDS1	Human only
608316	Coronary Heart Disease, Susceptibility to, 2	CHDS2			CHDS2	Human only
300464	Coronary Heart Disease, Susceptibility to, 3	CHDS3			CHDS3	Human only
608318	Coronary Heart Disease, Susceptibility to, 4	CHDS4			CHDS4	Human only
611139	Coronary Heart Disease, Susceptibility to, 8; CHDS8				CHDS8	Human only
612030	Coronary Heart Disease, Susceptibility to, 9; CHDS9				CHDS9	Human only
121700	Corneal Endothelial Dystrophy 1, Autosomal Dominant; CHED1	Congenital Hereditary Endothelial Dystrophy of Cornea|Corneal Dystrophy, Congenital Hereditary Endothelial; CHED|Maumenee Corneal Dystrophy			CHED1	Human only
114480	Breast Cancer		Chek2	MGI:1355321	CHEK2	Human only
176807	Prostate Cancer		Chek2	MGI:1355321	CHEK2	Human only
259500	Osteogenic Sarcoma	Osteosarcoma; OSRC	Chek2	MGI:1355321	CHEK2	Human only
604373	Checkpoint Kinase 2, S. Pombe, Homolog Of; CHEK2	CHK2|RAD53, S. Cerevisiae, Homolog Of; RAD53	Chek2	MGI:1355321	CHEK2	Human only
609265	Li-Fraumeni Syndrome 2; LFS2		Chek2	MGI:1355321	CHEK2	Human only
181500	Schizophrenia; SCZD		Chi3l1	MGI:1340899	CHI3L1	Human only
611960	Asthma-Related Traits, Susceptibility to, 7; ASRT7		Chi3l1	MGI:1340899	CHI3L1	Human only
601626	Leukemia, Acute Myeloid; AML		Chic2	MGI:1921527	CHIC2	Human only
600795	Frontotemporal Dementia, Chromosome 3-Linked; FTD3	Dementia, Familial Nonspecific|DMT1; DEM	Chmp2b	MGI:1916192	CHMP2B	Human only
609512	Chmp Family, Member 2B; CHMP2B	Charged Multivesicular Body Protein 2B|Chromatin-Modifying Protein 2B	Chmp2b	MGI:1916192	CHMP2B	Human only
605387	Cataract, Posterior Polar, 3; CTPP3	CPP3	Chmp4b	MGI:1922858	CHMP4B	Human only
610185	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2; CAMRQ2	Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion 2			CHMRQ	Human only
604356	Duane Retraction Syndrome 2; DURS2		Chn1	MGI:1915674	CHN1	Human only
609893	Hypothyroidism, Congenital, Nongoitrous, 3; CHNG3	Resistance to Thyrotropin; RTSH|Thyrotropin Resistance			CHNG3	Human only
253290	Multiple Pterygium Syndrome, Lethal Type	Pterygium Syndrome, Multiple, Lethal Type	Chrna1	MGI:87885	CHRNA1	Human only
601462	Myasthenic Syndrome, Congenital, Slow-Channel; SCCMS	Cms IIA|Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel|Myasthenic Syndrome, Congenital, Type IIA; CMS2A	Chrna1	MGI:87885	CHRNA1	Human only
608930	Myasthenic Syndrome, Congenital, Fast-Channel	FCCMS	Chrna1	MGI:87885	CHRNA1	Human only
610353	Epilepsy, Nocturnal Frontal Lobe, Type 4	Enfl4|Epilepsy, Familial, with Nocturnal Wandering and Ictal Fear	Chrna2	MGI:87886	CHRNA2	Human only
612052	Smoking As A Quantitative Trait Locus 3; SQTL3		Chrna3	MGI:87887	CHRNA3	Human only
188890	Tobacco Addiction, Susceptibility to	Cigarette Habituation, Susceptibility to|Nicotine Addiction, Susceptibility to|Nicotine Dependence, Susceptibility to|Smoking Habit, Susceptibility to	Chrna4	MGI:87888	CHRNA4	Human only
600513	Epilepsy, Nocturnal Frontal Lobe, Type 1	ENFL1	Chrna4	MGI:87888	CHRNA4	Human only
612052	Smoking As A Quantitative Trait Locus 3; SQTL3		Chrna5	MGI:87889	CHRNA5	Human only
601462	Myasthenic Syndrome, Congenital, Slow-Channel; SCCMS	Cms IIA|Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel|Myasthenic Syndrome, Congenital, Type IIA; CMS2A	Chrnb1	MGI:87890	CHRNB1	Human only
608931	Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Type ID; CMS1D	Chrnb1	MGI:87890	CHRNB1	Human only
605375	Epilepsy, Nocturnal Frontal Lobe, Type 3	ENFL3	Chrnb2	MGI:87891	CHRNB2	Human only
253290	Multiple Pterygium Syndrome, Lethal Type	Pterygium Syndrome, Multiple, Lethal Type	Chrnd	MGI:87893	CHRND	Human only
601462	Myasthenic Syndrome, Congenital, Slow-Channel; SCCMS	Cms IIA|Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel|Myasthenic Syndrome, Congenital, Type IIA; CMS2A	Chrnd	MGI:87893	CHRND	Human only
608930	Myasthenic Syndrome, Congenital, Fast-Channel	FCCMS	Chrnd	MGI:87893	CHRND	Human only
601462	Myasthenic Syndrome, Congenital, Slow-Channel; SCCMS	Cms IIA|Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel|Myasthenic Syndrome, Congenital, Type IIA; CMS2A	Chrne	MGI:87894	CHRNE	Human only
608930	Myasthenic Syndrome, Congenital, Fast-Channel	FCCMS	Chrne	MGI:87894	CHRNE	Human only
253290	Multiple Pterygium Syndrome, Lethal Type	Pterygium Syndrome, Multiple, Lethal Type	Chrng	MGI:87895	CHRNG	Human only
265000	Multiple Pterygium Syndrome, Escobar Variant	Escobar Syndrome|Multiple Pterygium Syndrome|Multiple Pterygium Syndrome, Nonlethal Type|Pterygium Colli Syndrome|Pterygium Syndrome|Pterygium Universale	Chrng	MGI:87895	CHRNG	Human only
601776	Ehlers-Danlos Syndrome, Musculocontractural Type	Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome|Adducted Thumb-Clubfoot Syndrome; ATCS|Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis|Dundar Syndrome|Ehlers-Danlos Syndrome, Type Vib, Formerly; EDS6B, FORMERLY	Chst14	MGI:1919386	CHST14	Human only
143095	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	Chondrodysplasia with Multiple Dislocations; CDMD|Humerospinal Dysostosis; HSD|Spondyloepiphyseal Dysplasia, Omani Type	Chst3	MGI:1858224	CHST3	Human only
217800	Macular Dystrophy, Corneal, 1; MCDC1	Corneal Dystrophy, Macular Type|Groenouw Type II Corneal Dystrophy|MCD			CHST6	Human only
613630	Cocoon Syndrome	Fetal Encasement Syndrome	Chuk	MGI:99484	CHUK	Human only
613290	Hearing Loss, Cisplatin-Induced, Susceptibility To; CIHL				CIHL	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		Ciita	MGI:108445	CIITA	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Ciita	MGI:108445	CIITA	Human only
606763	Ciliary Dyskinesia, Primary, 2; CILD2				CILD2	Human only
608646	Ciliary Dyskinesia, Primary, 4; CILD4	Ciliary Dyskinesia, Primary, 4, with or without Situs Inversus			CILD4	Human only
608647	Ciliary Dyskinesia, Primary, 5; CILD5	Ciliary Dyskinesia, Primary, 5, with or without Situs Inversus			CILD5	Human only
612274	Ciliary Dyskinesia, Primary, 8; CILD8	Ciliary Dyskinesia, Primary, 8, with or without Situs Inversus			CILD8	Human only
603932	Intervertebral Disc Disease; IDD		Cilp	MGI:2444507	CILP	Human only
608447	Carotid Intimal Medial Thickness 2	Carotid Intimal Medial Thickness Quantitative Trait Locus on Chromosome 12|CIMT2			CIMT	Human only
604901	North American Indian Childhood Cirrhosis; NAIC		Cirh1a	MGI:1096573	CIRH1A	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Cish	MGI:103159	CISH	Human only
611162	Malaria, Susceptibility to		Cish	MGI:103159	CISH	Human only
608029	Spinocerebellar Ataxia, Autosomal Recessive 6; SCAR6	Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive|Norwegian Infantile Onset Ataxia			CLA3	Human only
608027	Pontocerebellar Hypoplasia, Type 3; PCH3	Cerebellar Atrophy with Progressive Microcephaly; CLAM|Pch with Optic Atrophy			CLAM	Human only
610313	Cold-Induced Sweating Syndrome 2; CISS2		Clcf1	MGI:1930088	CLCF1	Human only
160800	Myotonia Congenita, Autosomal Dominant		Clcn1	MGI:88417	CLCN1	Human only
255700	Myotonia Congenita, Autosomal Recessive	Becker Disease|Myotonia, Generalized	Clcn1	MGI:88417	CLCN1	Human only
254770	Epilepsy, Myoclonic Juvenile; EJM	Myoclonic Epilepsy, Juvenile; JME|Petit Mal, Impulsive	Clcn2	MGI:105061	CLCN2	Human only
607628	Epilepsy, Idiopathic Generalized, Susceptibility to, 11; EIG11		Clcn2	MGI:105061	CLCN2	Human only
607631	Epilepsy, Juvenile Absence, Susceptibility to, 1; EJA1	Jae1	Clcn2	MGI:105061	CLCN2	Human only
607682	Epilepsy, Idiopathic Generalized, Susceptibility to, 9; EIG9		Clcn2	MGI:105061	CLCN2	Human only
308990	Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis		Clcn5	MGI:99486	CLCN5	Human only
310468	Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN	Nephrolithiasis 1; NPHL1|Nephrolithiasis, X-Linked Recessive, Type 1|Urolithiasis, X-Linked Recessive, Type 1	Clcn5	MGI:99486	CLCN5	Human only
300554	Hypophosphatemic Rickets, X-Linked Recessive		Clcn5	MGI:99486	CLCN5	Human only
166600	Osteopetrosis, Autosomal Dominant 2; OPTA2	Albers-Schonberg Disease, Autosomal Dominant|Marble Bones, Autosomal Dominant|Osteopetrosis, Autosomal Dominant, Type II|Osteosclerosis Fragilis Generalisata	Clcn7	MGI:1347048	CLCN7	Human only
602522	Bartter Syndrome, Type 4a		Clcnka	MGI:1329026	CLCNKA	Human only
613090	Bartter Syndrome, Type 4b	Bartter Syndrome, Infantile, with Sensorineural Deafness	Clcnka	MGI:1329026	CLCNKA	Human only
602522	Bartter Syndrome, Type 4a		Clcnkb	MGI:1930643	CLCNKB	Human only
607364	Bartter Syndrome, Type 3		Clcnkb	MGI:1930643	CLCNKB	Human only
607626	Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis	Ichthyosis-Sclerosing Cholangitis Syndrome|ILVASC|Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome|NISCH Syndrome	Cldn1	MGI:1276109	CLDN1	Human only
248250	Hypomagnesemia 3, Renal; HOMG3	Hypomagnesemia, Isolated Renal|Hypomagnesemia, Primary, Due to Defect in Renal Tubular Transport of Magnesium	Cldn16	MGI:2148742	CLDN16	Human only
248190	Hypomagnesemia 5, Renal, with Ocular Involvement; HOMG5	Fhhnc with Severe Ocular Involvement|Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement|Hypomagnesemia, Renal, with Ocular Involvement|Macular Coloboma, Bilateral, with Hypercalciuria	Cldn19	MGI:3033992	CLDN19	Human only
613108	Candidiasis, Familial, 4; CANDF4	Candidiasis, Familial Chronic Mucocutaneous	Clec7a	MGI:1861431	CLEC7A	Human only
604595	Cholesterol Level Quantitative Trait Locus 1	Cholesterol Level Quantitative Trait Locus on Chromosome 13|Cholesterol-Lowering Factor; CLF|Clqtl1			CLF	Human only
181510	Schizophrenia 1; SCZD1	Schizophrenia Susceptibility Locus, Chromosome 5-Related	Clint1	MGI:2144243	CLINT1	Human only
609630	Leukemia, Chronic Lymphocytic, Susceptibility to, 1	Clls1			CLLS1	Human only
612557	Leukemia, Chronic Lymphocytic, Susceptibility to, 3	Clls3			CLLS3	Human only
612558	Leukemia, Chronic Lymphocytic Susceptibility to, 4	Clls4			CLLS4	Human only
612559	Leukemia, Chronic Lymphocytic Susceptibility to, 5	Clls5			CLLS5	Human only
610003	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Epilepsy, Progressive, with Mental Retardation; EPMR|Northern Epilepsy	Cln8	MGI:1349447	CLN8	Human only
609055	Ceroid Lipofuscinosis, Neuronal, 9; CLN9				CLN9	Human only
163000	Capillary Malformations, Congenital, 1	Capillary Malformations; CMAL|Cmc1|Nevi Flammei, Familial Multiple|Port-Wine Stain			CMAL	Human only
600884	Cardiomyopathy, Dilated, 1B; CMD1B	Cardiomyopathy, Familial Dilated, 1; CMPD1|Cardiomyopathy, Familial Dilated; FDC			CMD1B	Human only
601493	Cardiomyopathy, Dilated, 1C; CMD1C				CMD1C	Human only
602067	Cardiomyopathy, Dilated, 1f and Limb-Girdle Muscular Dystrophy Type 1d	Cardiomyopathy, Dilated, with Conduction Defect and Muscular Dystrophy; CDCD3|Cmd1f and Lgmd1d			CMD1F	Human only
604288	Cardiomyopathy, Dilated, 1H; CMD1H	Cardiomyopathy, Dilated, with Conduction Defect			CMD1H	Human only
605582	Cardiomyopathy, Dilated, 1K; CMD1K				CMD1K	Human only
609915	Cardiomyopathy, Dilated, 1q; CMD1Q				CMD1Q	Human only
218400	Craniometaphyseal Dysplasia, Autosomal Recessive; CMDR				CMDR	Human only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM			CMM	Human only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM			CMM4	Human only
608035	Melanoma, Cutaneous Malignant, Susceptibility to, 4; CMM4				CMM4	Human only
612263	Melanoma, Cutaneous Malignant, Susceptibility to, 7; CMM7				CMM7	Human only
608591	Charcot-Marie-Tooth Disease, Axonal, Type 2G; CMT2G	Charcot-Marie-Tooth Neuropathy, Type 2G			CMT2G	Human only
607731	Charcot-Marie-Tooth Disease, Axonal, Type 2H; CMT2H	Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive|Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive			CMT2H	Human only
606483	Charcot-Marie-Tooth Disease, Dominant Intermediate A; CMTDIA	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A|DI-CMTA			CMTDI2	Human only
302801	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2; CMTX2	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2			CMTX2	Human only
302802	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3			CMTX3	Human only
121400	Cornea Plana 1; CNA1				CNA1	Human only
602668	Myotonic Dystrophy 2; DM2	Dystrophia Myotonica 2|Myotonic Myopathy, Proximal|Proximal Myotonic Myopathy; PROMM|Ricker Syndrome	Cnbp	MGI:88431	CNBP	Human only
605244	Carney Complex, Type 2; CNC2	Carney Myxoma-Endocrine Complex, Type 2			CNC	Human only
304730	Dermoids of Cornea; CND				CND	Human only
216900	Achromatopsia 2; ACHM2	Colorblindness, Total|Rod Monochromacy 2; RMCH2|Rod Monochromatism 2	Cnga3	MGI:1341818	CNGA3	Human only
248200	Stargardt Disease 1; STGD1	Macular Degeneration, Juvenile|STGD	Cngb3	MGI:1353562	CNGB3	Human only
262300	Achromatopsia 3; ACHM3	Achm1, Formerly|Achromatopsia with Myopia|Pingelapese Blindness|Rod Monochromacy 1, Formerly; RMCH1, FORMERLY|Rod Monochromatism 1, Formerly|Total Colorblindness with Myopia	Cngb3	MGI:1353562	CNGB3	Human only
217080	Jalili Syndrome	Cone-Rod Dystrophy and Amelogenesis Imperfecta	Cnnm4	MGI:2151060	CNNM4	Human only
212200	Carnosinemia	Carnosinase Deficiency			CNSN	Human only
612540	Myopathy, Congenital, Compton-North		Cntn1	MGI:105980	CNTN1	Human only
612100	Autism, Susceptibility to, 15; AUTS15		Cntnap2	MGI:1914047	CNTNAP2	Human only
300085	Cone-Rod Dystrophy, X-Linked, 2; CORDX2	Cone Dystrophy 2, X-Linked; COD2			COD2	Human only
611543	Cavitary Optic Disc Anomalies				CODA	Human only
611209	Congenital Disorder of Glycosylation, Type Iig; CDG2G	Cdg Iig; CDGIIG|Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome	Cog1	MGI:1333873	COG1	Human only
613489	Congenital Disorder of Glycosylation, Type Iij; CDG2J	Cdg Iij; CDGIIJ	Cog4	MGI:2142808	COG4	Human only
613612	Congenital Disorder of Glycosylation, Type III; CDG2I		Cog5	MGI:2145130	COG5	Human only
608779	Congenital Disorder of Glycosylation, Type Iie; CDG2E	Cdg Iie; CDGIIE	Cog7	MGI:2685013	COG7	Human only
611182	Congenital Disorder of Glycosylation, Type Iih; CDG2H	Cdg Iih; CDGIIH	Cog8	MGI:2142885	COG8	Human only
603932	Intervertebral Disc Disease; IDD		Col11a1	MGI:88446	COL11A1	Human only
277610	Weissenbacher-Zweymuller Syndrome; WZS	Pierre Robin Syndrome with Fetal Chondrodysplasia	Col11a2	MGI:88447	COL11A2	Human only
609706	Deafness, Autosomal Recessive 53; DFNB53		Col11a2	MGI:88447	COL11A2	Human only
114000	Caffey Disease		Col1a1	MGI:88467	COL1A1	Human only
130000	Ehlers-Danlos Syndrome, Type I	Eds I; EDS1|Ehlers-Danlos Syndrome, Gravis Type|Ehlers-Danlos Syndrome, Severe Classic Type	Col1a1	MGI:88467	COL1A1	Human only
130060	Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant	Arthrochalasis Multiplex Congenita|Eds Viia; EDS7A|Ehlers-Danlos Syndrome, Arthrochalasia Type	Col1a1	MGI:88467	COL1A1	Human only
166220	Osteogenesis Imperfecta, Type IV	OI, Type IV|Oi4|Osteogenesis Imperfecta with Normal Sclerae	Col1a1	MGI:88467	COL1A1	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Col1a1	MGI:88467	COL1A1	Human only
259420	Osteogenesis Imperfecta, Type III	OI, Type III|Oi3|Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae	Col1a1	MGI:88467	COL1A1	Human only
120150	Collagen, Type I, Alpha-1; COL1A1		Col1a1	MGI:88467	COL1A1	Human only
130060	Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant	Arthrochalasis Multiplex Congenita|Eds Viia; EDS7A|Ehlers-Danlos Syndrome, Arthrochalasia Type	Col1a2	MGI:88468	COL1A2	Human only
166210	Osteogenesis Imperfecta, Type II	Oi, Type II; OI2|Osteogenesis Imperfecta Congenita, Perinatal Lethal Form|Osteogenesis Imperfecta Congenita; OIC|Vrolik Type of Osteogenesis Imperfecta	Col1a2	MGI:88468	COL1A2	Human only
166220	Osteogenesis Imperfecta, Type IV	OI, Type IV|Oi4|Osteogenesis Imperfecta with Normal Sclerae	Col1a2	MGI:88468	COL1A2	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Col1a2	MGI:88468	COL1A2	Human only
225320	Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form		Col1a2	MGI:88468	COL1A2	Human only
108300	Stickler Syndrome, Type I; STL1	Arthroophthalmopathy, Hereditary Progressive; AOM|Stickler Syndrome, Membranous Vitreous Type|Stickler Syndrome, Vitreous Type 1	Col2a1	MGI:88452	COL2A1	Human only
120140	Collagen, Type II, Alpha-1; COL2A1	Collagen, Type II	Col2a1	MGI:88452	COL2A1	Human only
132450	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	EDMMD	Col2a1	MGI:88452	COL2A1	Human only
150600	Legg-Calve-Perthes Disease; LCPD	LCP|Legg-Perthes Disease|Perthes Disease	Col2a1	MGI:88452	COL2A1	Human only
156550	Kniest Dysplasia		Col2a1	MGI:88452	COL2A1	Human only
184250	Spondyloepimetaphyseal Dysplasia, Strudwick Type; SEMDSTWK	Dappled Metaphysis Syndrome|SEMD, Strudwick Type|Semdc|SMED, Strudwick Type|SMED, Type I|Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type|Spondylometaphyseal Dysplasia; SMD|Strudwick Syndrome	Col2a1	MGI:88452	COL2A1	Human only
184252	Spondylometaphyseal Dysplasia, Kozlowski Type; SMDK	SMD, Kozlowski Type	Col2a1	MGI:88452	COL2A1	Human only
215150	Otospondylomegaepiphyseal Dysplasia; OSMED	Chondrodystrophy with Sensorineural Deafness|Nance-Insley Syndrome|Nance-Sweeney Chondrodysplasia	Col2a1	MGI:88452	COL2A1	Human only
271700	Spondyloperipheral Dysplasia	Spondyloperipheral Dysplasia with Short Ulna	Col2a1	MGI:88452	COL2A1	Human only
604864	Osteoarthritis with Mild Chondrodysplasia		Col2a1	MGI:88452	COL2A1	Human only
608805	Avascular Necrosis of Femoral Head, Primary	ANFH|Femoral Head, Aseptic Necrosis of|Femoral Head, Avascular Necrosis of|Ischemic Necrosis of Femoral Head|Osteonecrosis of Femoral Head	Col2a1	MGI:88452	COL2A1	Human only
130020	Ehlers-Danlos Syndrome, Type III	Benign Hypermobility Syndrome|EDS III|Eds3|Ehlers-Danlos Syndrome, Hypermobility Type	Col3a1	MGI:88453	COL3A1	Human only
607595	Brain Small Vessel Disease with Hemorrhage	Infantile Hemiparesis	Col4a1	MGI:88454	COL4A1	Human only
611773	Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps;	Hanac	Col4a1	MGI:88454	COL4A1	Human only
141200	Hematuria, Benign Familial; BFH	Thin Membrane Nephropathy; TMN|Thin-Basement-Membrane Nephropathy	Col4a3	MGI:104688	COL4A3	Human only
308940	Leiomyomatosis, Diffuse, with Alport Syndrome; DL-ATS	Alport Syndrome and Diffuse Leiomyomatosis; ATS-DL|Chromosome Xq22.3 Centromeric Deletion Syndrome|Leiomyomatosis, Esophageal and Vulval, with Nephropathy	Col4a6	MGI:2152695	COL4A6	Human only
130000	Ehlers-Danlos Syndrome, Type I	Eds I; EDS1|Ehlers-Danlos Syndrome, Gravis Type|Ehlers-Danlos Syndrome, Severe Classic Type	Col5a2	MGI:88458	COL5A2	Human only
254090	Ullrich Congenital Muscular Dystrophy; UCMD	Muscular Dystrophy, Scleroatonic|Ullrich Disease|Ullrich Scleroatonic Muscular Dystrophy	Col6a1	MGI:88459	COL6A1	Human only
602475	Ossification of the Posterior Longitudinal Ligament of Spine; OPLL		Col6a1	MGI:88459	COL6A1	Human only
158810	Bethlem Myopathy	Muscular Dystrophy, Benign Congenital|Myopathy, Benign Congenital, with Contractures	Col6a2	MGI:88460	COL6A2	Human only
254090	Ullrich Congenital Muscular Dystrophy; UCMD	Muscular Dystrophy, Scleroatonic|Ullrich Disease|Ullrich Scleroatonic Muscular Dystrophy	Col6a2	MGI:88460	COL6A2	Human only
255600	Myosclerosis, Autosomal Recessive	Myopathy, Myosclerotic|Myosclerosis, Congenital, of Lowenthal	Col6a2	MGI:88460	COL6A2	Human only
158810	Bethlem Myopathy	Muscular Dystrophy, Benign Congenital|Myopathy, Benign Congenital, with Contractures	Col6a3	MGI:88461	COL6A3	Human only
254090	Ullrich Congenital Muscular Dystrophy; UCMD	Muscular Dystrophy, Scleroatonic|Ullrich Disease|Ullrich Scleroatonic Muscular Dystrophy	Col6a3	MGI:88461	COL6A3	Human only
131705	Transient Bullous Dermolysis of the Newborn; TBDN	Dystrophic Epidermolysis Bullosa, Neonatal|Epidermolysis Bullosa Dystrophica, Neonatal Form	Col7a1	MGI:88462	COL7A1	Human only
131750	Epidermolysis Bullosa Dystrophica, Autosomal Dominant; DDEB	Dystrophic Epidermolysis Bullosa, Autosomal Dominant|Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; EBDCT|Epidermolysis Bullosa Dystrophica, Pasini Type	Col7a1	MGI:88462	COL7A1	Human only
131850	Epidermolysis Bullosa Dystrophica, Pretibial	Deb, Pretibial|Dystrophic Epidermolysis Bullosa, Pretibial|Epidermolysis Bullosa, Pretibial	Col7a1	MGI:88462	COL7A1	Human only
132000	Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails	Epidermolysis Bullosa Dystrophica, Bart Type	Col7a1	MGI:88462	COL7A1	Human only
604129	Epidermolysis Bullosa Pruriginosa	Deb, Pruriginosa|Dystrophic Epidermolysis Bullosa Pruriginosa	Col7a1	MGI:88462	COL7A1	Human only
607523	Nail Disorder, Nonsyndromic Congenital, 8; NDNC8	Toenail Dystrophy, Isolated	Col7a1	MGI:88462	COL7A1	Human only
122000	Corneal Dystrophy, Posterior Polymorphous, 1; PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior|Posterior Polymorphous Corneal Dystrophy; PPCD	Col8a2	MGI:88464	COL8A2	Human only
136800	Corneal Dystrophy, Fuchs Endothelial, 1; FECD1	Corneal Dystrophy, Fuchs Endothelial, Early-Onset	Col8a2	MGI:88464	COL8A2	Human only
609140	Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2		Col8a2	MGI:88464	COL8A2	Human only
600204	Epiphyseal Dysplasia, Multiple, 2; EDM2		Col9a2	MGI:88466	COL9A2	Human only
603932	Intervertebral Disc Disease; IDD		Col9a2	MGI:88466	COL9A2	Human only
600969	Epiphyseal Dysplasia, Multiple, 3; EDM3		Col9a3	MGI:894686	COL9A3	Human only
603932	Intervertebral Disc Disease; IDD		Col9a3	MGI:894686	COL9A3	Human only
603034	Endplate Acetylcholinesterase Deficiency; EAD	Cms IC|Congenital Myasthenic Syndrome Type Ic; CMS1C|Engel Congenital Myasthenic Syndrome|Myasthenic Syndrome, Congenital, Engel Type	Colq	MGI:1338761	COLQ	Human only
257550	Ocular Motor Apraxia	Oculomotor Apraxia, Cogan Type; COMA|Saccade Initiation Failure, Congenital			COMA	Human only
116790	Catechol-O-Methyltransferase; COMT		Comt	MGI:88470	COMT	Human only
167870	Panic Disorder 1; PAND1	Panic Disorder Susceptibility Locus, Chromosome 13q-Related	Comt	MGI:88470	COMT	Human only
181500	Schizophrenia; SCZD		Comt	MGI:88470	COMT	Human only
606963	Pulmonary Disease, Chronic Obstructive				COPD	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Coq2	MGI:1919133	COQ2	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Coq9	MGI:1915164	COQ9	Human only
600624	Cone-Rod Dystrophy 1; CORD1	CRD1			CORD1	Human only
605549	Cone-Rod Dystrophy 8; CORD8				CORD8	Human only
256000	Leigh Syndrome; LS		Cox15	MGI:1920112	COX15	Human only
612714	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis		Cox4i2	MGI:2135755	COX4I2	Human only
220110	Mitochondrial Complex IV Deficiency	COX Deficiency|Cytochrome C Oxidase Deficiency	Cox6b1	MGI:107460	COX6B1	Human only
605388	Cerebral Palsy, Ataxic, Autosomal Recessive	ACP|Ataxic Cerebral Palsy			CPAT1	Human only
212070	Carboxypeptidase N Deficiency		Cpn1	MGI:2135874	CPN1	Human only
121300	Coproporphyria, Hereditary; HCP	Coproporphyrinogen Oxidase Deficiency|CPO Deficiency|Cpox Deficiency	Cpox	MGI:104841	CPOX	Human only
265380	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;	Acdmpv|Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies|Pulmonary Hypertension, Familial Persistent, of the Newborn	Cps1	MGI:891996	CPS1	Human only
608307	Carbamoyl Phosphate Synthetase I; CPS1		Cps1	MGI:891996	CPS1	Human only
255110	Carnitine Palmitoyltransferase II Deficiency, Late-Onset	Carnitine Palmitoyltransferase II Deficiency, Adult-Onset|Carnitine Palmitoyltransferase II Deficiency, Myopathic|CPT II Deficiency, Myopathic|CPT2 Deficiency, Late-Onset	Cpt2	MGI:109176	CPT2	Human only
600649	Carnitine Palmitoyltransferase II Deficiency, Infantile	Carnitine Palmitoyltransferase II Deficiency with Hypoketotic Hypoglycemia|Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular|CPT II Deficiency, Hepatic|CPT2 Deficiency, Infantile	Cpt2	MGI:109176	CPT2	Human only
608836	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal	Carnitine Palmitoyltransferase II Deficiency, Antenatal|Carnitine Palmitoyltransferase II Deficiency, Neonatal|CPT II Deficiency, Lethal Neonatal|CPT2 Deficiency, Lethal Neonatal	Cpt2	MGI:109176	CPT2	Human only
611162	Malaria, Susceptibility to				CR1	Human only
610927	Systemic Lupus Erythematosus, Susceptibility to, 9; SLEB9		Cr2	MGI:88489	CR2	Human only
601228	Polyposis Syndrome, Hereditary Mixed, 1; HMPS1				CRAC1	Human only
172870	Pigmented Paravenous Chorioretinal Atrophy; PPCRA		Crb1	MGI:2136343	CRB1	Human only
607417	Mental Retardation, Autosomal Recessive 2; MRT2	Mental Retardation, Autosomal Recessive 2A; MRT2A	Crbn	MGI:1913277	CRBN	Human only
612591	Colorectal Cancer, Susceptibility to, 10; CRCS10	Colorectal Cancer, Susceptibility to, on Chromosome 19q			CRCS10	Human only
612592	Colorectal Cancer, Susceptibility to, 11; CRCS11	Colorectal Cancer, Susceptibility to, on Chromosome 20p			CRCS11	Human only
611469	Colorectal Cancer, Susceptibility to, 2; CRCS2	Colorectal Cancer, Susceptibility to, on Chromosome 8q24			CRCS2	Human only
612230	Colorectal Cancer, Susceptibility to, 5; CRCS5	Colorectal Cancer, Susceptibility to, on Chromosome 10			CRCS5	Human only
612231	Colorectal Cancer, Susceptibility to, 6; CRCS6	Colorectal Cancer, Susceptibility to, on Chromosome 8q23			CRCS6	Human only
612232	Colorectal Cancer, Susceptibility to, 7; CRCS7	Colorectal Cancer, Susceptibility to, on Chromosome 11			CRCS7	Human only
612589	Colorectal Cancer, Susceptibility to, 8; CRCS8	Colorectal Cancer, Susceptibility to, on Chromosome 14q			CRCS8	Human only
612590	Colorectal Cancer, Susceptibility to, 9; CRCS9	Colorectal Cancer, Susceptibility to, on Chromosome 16q			CRCS9	Human only
612160	Histiocytoma, Angiomatoid Fibrous		Creb1	MGI:88494	CREB1	Human only
606217	Atrioventricular Septal Defect, Susceptibility to, 2; AVSD2		Creld1	MGI:2152539	CRELD1	Human only
201400	Acth Deficiency, Isolated; IAD	Adrenocorticotropic Hormone Deficiency	Crh	MGI:88496	CRH	Human only
272430	Cold-Induced Sweating Syndrome 1; CISS1	Sweating, Cold-Induced	Crlf1	MGI:1340030	CRLF1	Human only
601378	Crisponi Syndrome	Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death	Crlf1	MGI:1340030	CRLF1	Human only
123100	Craniosynostosis, Type 1; CRS1	Craniosynostosis; CRS			CRS	Human only
600593	Craniosynostosis, Adelaide Type; CRSA				CRSA	Human only
120970	Cone-Rod Dystrophy 2; CORD2	Cone-Rod Dystrophy; CORD|Cone-Rod Retinal Dystrophy; CRD; CRD2|Retinal Cone-Rod Dystrophy; RCRD2	Crx	MGI:1194883	CRX	Human only
268000	Retinitis Pigmentosa; RP		Crx	MGI:1194883	CRX	Human only
610425	Cataract, Lamellar 2		Cryba4	MGI:102716	CRYBA4	Human only
610426	Microphthalmia, Isolated, with Cataract 4; MCOPCT4		Cryba4	MGI:102716	CRYBA4	Human only
600929	Crystallin, Beta-B1; CRYBB1		Crybb1	MGI:104992	CRYBB1	Human only
611544	Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3		Crybb1	MGI:104992	CRYBB1	Human only
604307	Cataract, Coppock-Like; CCL	Cataract, Embryonic Nuclear	Crybb2	MGI:88519	CRYBB2	Human only
607133	Cataract, Sutural, with Punctate and Cerulean Opacities	CSPC	Crybb2	MGI:88519	CRYBB2	Human only
123620	Crystallin, Beta-B2; CRYBB2		Crybb2	MGI:88519	CRYBB2	Human only
609741	Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2		Crybb3	MGI:102717	CRYBB3	Human only
123680	Crystallin, Gamma-C; CRYGC		Crygc	MGI:88523	CRYGC	Human only
123690	Crystallin, Gamma-D; CRYGD		Crygd	MGI:88524	CRYGD	Human only
601286	Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant	Cataract, Polymorphic Congenital|CCP; PCC	Crygd	MGI:88524	CRYGD	Human only
608983	Cataract, Congenital, Cerulean Type, 3; CCA3	Cataract, Congenital, 'blue Dot' Type, 3	Crygd	MGI:88524	CRYGD	Human only
123730	Crystallin, Gamma-S; CRYGS		Crygs	MGI:1298216	CRYGS	Human only
601042	Choreoathetosis/Spasticity, Episodic; CSE	Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity|Choreoathetosis, Paroxysmal, with Episodic Ataxia|Dystonia 9; DYT9			CSE	Human only
300770	Surfactant Metabolism Dysfunction, Pulmonary, 4; SMDP4	Csf2ra Deficiency|Pap Due to Csf2ra Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 4	Csf2ra	MGI:1339754	CSF2RA	Human only
105150	Cerebral Amyloid Angiopathy, Cst3-Related	Amyloidosis VI|Amyloidosis, Cerebroarterial, Icelandic Type|Cerebral Hemorrhage, Hereditary, with Amyloidosis|Hereditary Cerebral Hemorrhage with Amyloidosis; HCHWA	Cst3	MGI:102519	CST3	Human only
611953	Macular Degeneration, Age-Related, 11; ARMD11		Cst3	MGI:102519	CST3	Human only
115650	Cataract, Anterior Polar, 1; CTAA1	Cataract, Anterior Polar; CAP			CTAA1	Human only
601202	Cataract, Anterior Polar, 2; CTAA2				CTAA2	Human only
300216	Coats Disease	Retinal Telangiectasis			CTD	Human only
604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	Cataract, Congenital, with Facial Dysmorphism and Neuropathy|CCFDN	Ctdp1	MGI:1926953	CTDP1	Human only
612862	Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility to	Cteph, Dvt-Negative, Susceptibility to			CTEPH1	Human only
140300	Hashimoto Thyroiditis	Hashimoto Struma|HT	Ctla4	MGI:88556	CTLA4	Human only
275000	Graves Disease	GRD|Thyrotoxicosis	Ctla4	MGI:88556	CTLA4	Human only
601388	Diabetes Mellitus, Insulin-Dependent, 12; IDDM12	Insulin-Dependent Diabetes Mellitus 12	Ctla4	MGI:88556	CTLA4	Human only
609755	Celiac Disease, Susceptibility to, 3; CELIAC3	Gluten-Sensitive Enteropathy, Susceptibility to, 3	Ctla4	MGI:88556	CTLA4	Human only
123890	Cytotoxic T Lymphocyte-Associated 4; CTLA4		Ctla4	MGI:88556	CTLA4	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Ctnnb1	MGI:88276	CTNNB1	Human only
132600	Pilomatrixoma	Epithelioma Calcificans of Malherbe|Pilomatricoma; PTR	Ctnnb1	MGI:88276	CTNNB1	Human only
155255	Medulloblastoma; MDB		Ctnnb1	MGI:88276	CTNNB1	Human only
167000	Ovarian Cancer		Ctnnb1	MGI:88276	CTNNB1	Human only
123450	Cri-Du-Chat Syndrome	Cat Cry Syndrome|Chromosome 5p Deletion Syndrome	Ctnnd2	MGI:1195966	CTNND2	Human only
219750	Cystinosis, Adult Nonnephropathic	Cystinosis, Benign Nonnephropathic|Cystinosis, Ocular Nonnephropathic	Ctns	MGI:1932872	CTNS	Human only
219900	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	Cystinosis, Intermediate	Ctns	MGI:1932872	CTNS	Human only
605749	Cataract, Autosomal Recessive, Early-Onset, Pulverulent	CAAR			CTPL1	Human only
116600	Cataract, Posterior Polar, 1; CTPP1	CTPP			CTPP	Human only
610634	Cataract, Posterior Polar, 5; CTPP5				CTPP5	Human only
167800	Pancreatitis, Hereditary; PCTT	HP|HPC	Ctrc	MGI:1923951	CTRC	Human only
170650	Periodontitis, Aggressive, 1	Periodontitis, Juvenile; JPD; JP|Periodontitis, Prepubertal; PPP	Ctsc	MGI:109553	CTSC	Human only
245000	Papillon-Lefevre Syndrome; PALS	Keratosis Palmoplantaris with Periodontopathia|PLS	Ctsc	MGI:109553	CTSC	Human only
245010	Haim-Munk Syndrome; HMS	Cochin Jewish Disorder|Keratosis Palmoplantaris with Periodontopathia and Onychogryposis	Ctsc	MGI:109553	CTSC	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Ctsz	MGI:1891190	CTSZ	Human only
261100	Megaloblastic Anemia 1	Enterocyte Cobalamin Malabsorption|Enterocyte Intrinsic Factor Receptor, Defect of|Imerslund-Grasbeck Syndrome; IGS|Mga1|Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria	Cubn	MGI:1931256	CUBN	Human only
300354	Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait	Cabezas Syndrome|Cabezas X-Linked Mental Retardation Syndrome; MRXSC|Mental Retardation, X-Linked, Syndromic 15; MRXS15	Cul4b	MGI:1919834	CUL4B	Human only
273750	Three M Syndrome 1; 3M1	3M Syndrome|Dolichospondylic Dysplasia|Le Merrer Syndrome	Cul7	MGI:1913765	CUL7	Human only
300471	Cubitus Valgus with Mental Retardation and Unusual Facies				CVMRF	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Cx3cr1	MGI:1333815	CX3CR1	Human only
607339	Coronary Heart Disease, Susceptibility to, 1	CHDS1	Cx3cr1	MGI:1333815	CX3CR1	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Cx3cr1	MGI:1333815	CX3CR1	Human only
120050	Coxsackievirus B3 Susceptibility; CXB3S	CB3S			CXB3S	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Cxcl12	MGI:103556	CXCL12	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Cxcr1	MGI:2448715	CXCR1	Human only
193670	WHIM Syndrome	Warts, Hypogammaglobulinemia, Infections, and Myelokathexis	Cxcr4	MGI:109563	CXCR4	Human only
250790	Methemoglobinemia Type IV	Methemoglobinemia Due to Deficiency of Cytochrome B5	Cyb5	MGI:1926952	CYB5A	Human only
250800	Methemoglobinemia Due to Deficiency of Methemoglobin Reductase	Nadh-Cytochrome B5 Reductase Deficiency|NADH-Dependent Methemoglobin Reductase Deficiency	Cyb5r3	MGI:94893	CYB5R3	Human only
233690	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B|Cgd, Autosomal Recessive Cytochrome B-Negative|CYBA Deficiency	Cyba	MGI:1316658	CYBA	Human only
608508	Cytochrome B(-245), Alpha Subunit; CYBA	Cytochrome B(558), Alpha Subunit|P22-Phox	Cyba	MGI:1316658	CYBA	Human only
612004	Thrombocytopenia 4; THC4	Thrombocytopenia, Autosomal Dominant, 4	Cycs	MGI:88578	CYCS	Human only
132700	Cylindromatosis, Familial	'turban Tumor' Syndrome|Ancell-Spiegler Cylindromas|Cylindromas, Dermal Eccrine	Cyld	MGI:1921506	CYLD	Human only
601606	Trichoepithelioma, Multiple Familial, 1	Brooke-Fordyce Trichoepitheliomas|Epithelioma Adenoides Cysticum of Brooke; EAC|Epithelioma, Hereditary Multiple Benign Cystic|Mft1	Cyld	MGI:1921506	CYLD	Human only
605041	Brooke-Spiegler Syndrome; BRSS	Bss|Spiegler-Brooke Syndrome; SBS	Cyld	MGI:1921506	CYLD	Human only
201710	Lipoid Congenital Adrenal Hyperplasia	Adrenal Hyperplasia I|Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism	Cyp11a1	MGI:88582	CYP11A1	Human only
103900	Glucocorticoid-Remediable Aldosteronism; GRA	ACTH-Dependent Hyperaldosteronism Syndrome|Aldosteronism, Sensitive to Dexamethasone|FH I|Glucocorticoid-Suppressible Hyperaldosteronism; GSH|Hyperaldosteronism, Familial, Type I	Cyp11b1	MGI:88583	CYP11B1	Human only
202010	Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency	11-beta-Hydroxylase Deficiency|Adrenal Hyperplasia IV|Adrenal Hyperplasia, Hypertensive Form|P450c11b1 Deficiency|Steroid 11-Beta-Hydroxylase Deficiency	Cyp11b1	MGI:88583	CYP11B1	Human only
203400	Corticosterone Methyloxidase Type I Deficiency	18-hydroxylase Deficiency|Aldosterone Deficiency Due to Defect in Steroid 18-Hydroxylase|Aldosterone Deficiency I|CMO I Deficiency|Hyperreninemic Hypoaldosteronism, Familial, 1; FHHA1A|Steroid 18-hydroxylase Deficiency	Cyp11b2	MGI:88584	CYP11B2	Human only
610600	Corticosterone Methyloxidase Type II Deficiency	18-oxidase Deficiency|Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase|Aldosterone Deficiency II|Cmo II Deficiency|Hyperreninemic Hypoaldosteronism, Familial, 1; FHHA1B|Steroid 18-Oxidase Deficiency	Cyp11b2	MGI:88584	CYP11B2	Human only
202110	Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency	Adrenal Hyperplasia V	Cyp17a1	MGI:88586	CYP17A1	Human only
139300	Aromatase Excess Syndrome; AEXS		Cyp19a1	MGI:88587	CYP19A1	Human only
613546	Aromatase Deficiency	Pseudohermaphroditism, Female, Due to Placental Aromatase Deficiency	Cyp19a1	MGI:88587	CYP19A1	Human only
124060	Cytochrome P450, Subfamily I, Polypeptide 2; CYP1A2	Cytochrome P-450, Aromatic Compound-Inducible	Cyp1a2	MGI:88589	CYP1A2	Human only
137750	Glaucoma 1, Open Angle, A; GLC1A		Cyp1b1	MGI:88590	CYP1B1	Human only
137760	Glaucoma, Primary Open Angle; POAG		Cyp1b1	MGI:88590	CYP1B1	Human only
604229	Peters Anomaly		Cyp1b1	MGI:88590	CYP1B1	Human only
201910	Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency	21-hydroxylase Deficiency|Adrenal Hyperplasia III|CYP21 Deficiency	Cyp21a2-ps	MGI:3645529	CYP21A2	Human only
213700	Cerebrotendinous Xanthomatosis; CTX	Cerebral Cholesterinosis	Cyp27a1	MGI:88594	CYP27A1	Human only
122700	Coumarin Resistance	Coumarin, Poor Metabolism of	Cyp2a4	MGI:88596	CYP2A6	Human only
122720	Cytochrome P450, Subfamily IIA, Polypeptide 6; CYP2A6	Coumarin 7-Hydroxylase|Cytochrome P450, Phenobarbital-Inducible; P450PB	Cyp2a4	MGI:88596	CYP2A6	Human only
188890	Tobacco Addiction, Susceptibility to	Cigarette Habituation, Susceptibility to|Nicotine Addiction, Susceptibility to|Nicotine Dependence, Susceptibility to|Smoking Habit, Susceptibility to	Cyp2a4	MGI:88596	CYP2A6	Human only
211980	Lung Cancer		Cyp2a4	MGI:88596	CYP2A6	Human only
609535	Drug Metabolism, Poor, Cyp2c19-Related		Cyp2c50	MGI:2147497	CYP2C19	Human only
601129	Cytochrome P450, Subfamily IIC, Polypeptide 8; CYP2C8		Cyp2c65	MGI:1919553	CYP2C8	Human only
122700	Coumarin Resistance	Coumarin, Poor Metabolism of			CYP2C9	Human only
608902	Drug Metabolism, Poor, Cyp2d6-Related		Cyp2d22	MGI:1929474	CYP2D6	Human only
600081	Vitamin D Hydroxylation-Deficient Rickets, Type 1B; VDDR1B	25-hydroxyvitamin D3 Deficiency, Selective|Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency|Vitamin D-Dependent Rickets, Type 1b	Cyp2r1	MGI:2449771	CYP2R1	Human only
145500	Hypertension, Essential	EHT			CYP3A5	Human only
604777	Ichthyosis, Lamellar, 3; LI3	Ichthyosis Congenita III|Lamellar Ichthyosis, Type 3	Cyp4f39	MGI:2445210	CYP4F22	Human only
210370	Bietti Crystalline Corneoretinal Dystrophy	BCD|Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy	Cyp4v3	MGI:2142763	CYP4V2	Human only
270800	Spastic Paraplegia 5A, Autosomal Recessive; SPG5A		Cyp7b1	MGI:104978	CYP7B1	Human only
109543	Leukemia, Chronic Lymphocytic, Susceptibility to, 2	B-Cell Malignancy, Low-Grade|Clls2|Disrupted in B-Cell Malignancy; DBM|Leukemia, Chronic Lymphocytic, B-Cell; BCLL			D13S25	Human only
600721	D-2-hydroxyglutaric Aciduria 1	D2hga|D2hga1	D2hgdh	MGI:2138209	D2HGDH	Human only
609128	Arthrogryposis, Distal, Type 4; DA4	Arthrogryposis with Severe Scoliosis|Arthrogryposis, Distal, Type IID; DAIID			DA4	Human only
181500	Schizophrenia; SCZD		Dao	MGI:94859	DAO	Human only
181500	Schizophrenia; SCZD				DAOA	Human only
611162	Malaria, Susceptibility to		Darc	MGI:1097689	DARC	Human only
611105	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation; LBSL	Mitochondrial Aspartyl-Trna Synthetase Deficiency	Dars2	MGI:2442510	DARS2	Human only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary			DBA2	Human only
606129	Diamond-Blackfan Anemia 2; DBA2				DBA2	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Dbh	MGI:94864	DBH	Human only
241080	Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome	Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia|Woodhouse-Sakati Syndrome	Dcaf17	MGI:1923013	DCAF17	Human only
157600	Mirror Movements, Congenital	Bimanual Synergia	Dcc	MGI:94869	DCC	Human only
600202	Dyslexia, Susceptibility to, 2; DYX2	Reading Disability, Specific, 2	Dcdc2a	MGI:2652818	DCDC2	Human only
603554	Omenn Syndrome	Reticuloendotheliosis, Familial, with Eosinophilia|Severe Combined Immunodeficiency with Hypereosinophilia	Dclre1c	MGI:2441769	DCLRE1C	Human only
610048	Corneal Dystrophy, Congenital Stromal; CSCD	Congenital Stromal Corneal Dystrophy	Dcn	MGI:94872	DCN	Human only
190685	Down Syndrome				DCR	Human only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Dctn1	MGI:107745	DCTN1	Human only
168605	Perry Syndrome	Parkinsonism with Alveolar Hypoventilation and Mental Depression	Dctn1	MGI:107745	DCTN1	Human only
607641	Neuronopathy, Distal Hereditary Motor, Type Viib; HMN7B	Dhmn7b|Hmn Viib|Lower Motor Neuron Disease, Dynactin Type|Neuropathy, Distal Hereditary Motor, Type Viib|Neuropathy, Distal Hereditary Motor, with Vocal Cord Paralysis, Type Viib	Dctn1	MGI:107745	DCTN1	Human only
300067	Lissencephaly, X-Linked, 1; LISX1	XLIS	Dcx	MGI:1277171	DCX	Human only
260800	Pentosuria	L-Xylulose Reductase Deficiency|L-Xylulosuria|Xylitol Dehydrogenase Deficiency	Dcxr	MGI:1915130	DCXR	Human only
608643	Aromatic L-Amino Acid Decarboxylase Deficiency	AADC Deficiency|DDC Deficiency|DOPA Decarboxylase Deficiency	Ddc	MGI:94876	DDC	Human only
613488	Myxoid Liposarcoma		Ddit3	MGI:109247	DDIT3	Human only
271665	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Smed, Short Limb-Abnormal Calcification Type|SMED, Short Limb-Hand Type|SMED, Type II|Smed-Sl|Smed-Sl/Ac|Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type	Ddr2	MGI:1345277	DDR2	Human only
125630	Dermodistortive Urticaria; DDU				DDU	Human only
613398	Warsaw Breakage Syndrome		Ddx11	MGI:2443590	DDX11	Human only
133239	Esophageal Cancer				DEC1	Human only
222745	2,4-dienoyl-Coa Reductase 1; DECR1		Decr1	MGI:1914710	DECR1	Human only
266600	Inflammatory Bowel Disease 1; IBD1		Defb2	MGI:1338754	DEFB4A	Human only
194072	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome; WAGR	Chromosome 11p13 Deletion Syndrome|Wagr Syndrome			DEL11P13	Human only
606528	Homozygous 11p15-P14 Deletion Syndrome	Hyperinsulinism, Infantile, with Enteropathy and Deafness			DEL11P15P14	Human only
613457	Chromosome 14q11-Q22 Deletion Syndrome				DEL14Q11Q22	Human only
611102	Deafness, Sensorineural, and Male Infertility	Chromosome 15q15.3 Deletion Syndrome			DEL15Q15.3	Human only
613406	Chromosome 15q24 Deletion Syndrome				DEL15Q24	Human only
612626	Chromosome 15q26-Qter Deletion Syndrome	Drayer Syndrome			DEL15Q26QTER	Human only
613604	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb				DEL16P12.1P11.2	Human only
610443	Chromosome 17q21.31 Deletion Syndrome	Microdeletion 17q21.31 Syndrome			DEL17Q21.31	Human only
613355	Chromosome 17q23.1-Q23.2 Deletion Syndrome				DEL17Q23.1Q23.2	Human only
146390	Chromosome 18p Deletion Syndrome	18p- Syndrome			DEL18P	Human only
601808	Chromosome 18q Deletion Syndrome	18q- Syndrome|Chromosome 18q- Syndrome			DEL18Q	Human only
613638	Chromosome 19p13.13 Deletion Syndrome				DEL19P13.13	Human only
613026	Chromosome 19q13.11 Deletion Syndrome				DEL19Q13.11	Human only
613735	Chromosome 1p32-P31 Deletion Syndrome				DEL1P32P31	Human only
607872	Chromosome 1p36 Deletion Syndrome	Monosomy 1p36 Syndrome			DEL1P36	Human only
612474	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb				DEL1Q21	Human only
612530	Chromosome 1q41-Q42 Deletion Syndrome				DEL1Q41Q42	Human only
612337	Chromosome 1q43-Q44 Deletion Syndrome	Chromosome 1qter Deletion Syndrome			DEL1Q42Q44	Human only
613564	Chromosome 2p12-P11.2 Deletion Syndrome				DEL2P12P11.2	Human only
612513	Chromosome 2p16.1-P15 Deletion Syndrome				DEL2P16.1-P15	Human only
606407	Hypotonia-Cystinuria Syndrome	Cystinuria with Mitochondrial Disease			DEL2P21	Human only
612345	Chromosome 2q31.2 Deletion Syndrome				DEL2Q31	Human only
612313	Chromosome 2q32-Q33 Deletion Syndrome				DEL2Q32Q33	Human only
613509	Chromosome 4q21 Deletion Syndrome				DEL4Q21	Human only
612582	Chromosome 6pter-P24 Deletion Syndrome				DEL6PTER	Human only
613544	Chromosome 6q11-Q14 Deletion Syndrome				DEL6Q11Q14	Human only
612863	Chromosome 6q24-Q25 Deletion Syndrome				DEL6Q24Q25	Human only
600383	Mesomelia-Synostoses Syndrome	Chromosome 8q13 Deletion Syndrome|Mesomelic Dysplasia with Acral Synostoses, Verloes-David-Pfeiffer Type|Mesomelic Dysplasia, Syndromic			DEL8Q13	Human only
158170	Chromosome 9p Deletion Syndrome	Monosomy 9p Syndrome			DEL9P	Human only
300578	Chromosome Xp11.3 Deletion Syndrome	Mental Retardation, X-Linked, with Retinitis Pigmentosa			DELXP11.3	Human only
300679	Chromosome Xp21 Deletion Syndrome	Complex Glycerol Kinase Deficiency			DELXP21	Human only
300475	Chromosome Xq28 Deletion Syndrome	Contiguous Abcd1/Dxs1375e Deletion Syndrome; CADDS			DELXQ28	Human only
609029	Emanuel Syndrome	Supernumerary Der(22)t(11;22) Syndrome			DER22T11-22	Human only
613700	Supernumerary Der(22)t(8;22) Syndrome				DER22T8-22	Human only
181400	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Kaeser Syndrome|Scapuloperoneal Syndrome, Neurogenic Type, of Kaeser|Stark-Kaeser Syndrome	Des	MGI:94885	DES	Human only
300719	Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities				DFCTRPS	Human only
300030	Deafness, X-Linked 3; DFNX3	Deafness, X-Linked 4, Congenital Sensorineural; DFN4			DFN4	Human only
300066	Deafness, X-Linked 4; DFNX4	Deafness, Nonsyndromic Sensorineural Progressive 6|Deafness, X-Linked 6, Progressive; DFN6			DFN6	Human only
603964	Deafness, Autosomal Dominant 16; DFNA16				DFNA16	Human only
606012	Deafness, Autosomal Dominant 18; DFNA18				DFNA18	Human only
607017	Deafness, Autosomal Dominant 21; DFNA21				DFNA21	Human only
606282	Deafness, Autosomal Dominant 24; DFNA24				DFNA24	Human only
612431	Deafness, Autosomal Dominant 27; DFNA27				DFNA27	Human only
606451	Deafness, Autosomal Dominant 30; DFNA30				DFNA30	Human only
608645	Deafness, Autosomal Dominant 31; DFNA31				DFNA31	Human only
608224	Deafness, Autosomal Dominant 41; DFNA41				DFNA41	Human only
608394	Deafness, Autosomal Dominant 43; DFNA43				DFNA43	Human only
608652	Deafness, Autosomal Dominant 47; DFNA47				DFNA47	Human only
608372	Deafness, Autosomal Dominant 49; DFNA49				DFNA49	Human only
600994	Deafness, Autosomal Dominant 5; DFNA5		Dfna5	MGI:1889850	DFNA5	Human only
607683	Deafness, Autosomal Dominant 52; DFNA52				DFNA52	Human only
609965	Deafness, Autosomal Dominant 53; DFNA53				DFNA53	Human only
612642	Deafness, Autosomal Dominant 59; DFNA59				DFNA59	Human only
601412	Deafness, Autosomal Dominant 7; DFNA7				DFNA7	Human only
603098	Deafness, Autosomal Recessive 13; DFNB13				DFNB13	Human only
603678	Deafness, Autosomal Recessive 14; DFNB14				DFNB14	Human only
603010	Deafness, Autosomal Recessive 17; DFNB17				DFNB17	Human only
604060	Deafness, Autosomal Recessive 20; DFNB20				DFNB20	Human only
605428	Deafness, Autosomal Recessive 26; DFNB26				DFNB26	Human only
605818	Deafness, Autosomal Recessive 27; DFNB27				DFNB27	Human only
608653	Deafness, Autosomal Recessive 32; DFNB32				DFNB32	Human only
607239	Deafness, Autosomal Recessive 33; DFNB33				DFNB33	Human only
608219	Deafness, Autosomal Recessive 38; DFNB38				DFNB38	Human only
608264	Deafness, Autosomal Recessive 40; DFNB40				DFNB40	Human only
610154	Deafness, Autosomal Recessive 44; DFNB44				DFNB44	Human only
612433	Deafness, Autosomal Recessive 45; DFNB45				DFNB45	Human only
609647	Deafness, Autosomal Recessive 46; DFNB46				DFNB46	Human only
609946	Deafness, Autosomal Recessive 47; DFNB47				DFNB47	Human only
609439	Deafness, Autosomal Recessive 48; DFNB48				DFNB48	Human only
600792	Deafness, Autosomal Recessive 5; DFNB5	Neurosensory Nonsyndromic Recessive Deafness 5; NSRD5			DFNB5	Human only
609941	Deafness, Autosomal Recessive 51; DFNB51				DFNB51	Human only
609952	Deafness, Autosomal Recessive 55; DFNB55				DFNB55	Human only
610143	Deafness, Autosomal Recessive 62; DFNB62				DFNB62	Human only
610248	Deafness, Autosomal Recessive 65; DFNB65				DFNB65	Human only
610212	Deafness, Autosomal Recessive 66; DFNB66				DFNB66	Human only
610419	Deafness, Autosomal Recessive 68; DFNB68				DFNB68	Human only
612789	Deafness, Autosomal Recessive 71; DFNB71				DFNB71	Human only
613685	Deafness, Autosomal Recessive 83; DFNB83				DFNB83	Human only
613392	Deafness, Autosomal Recessive 85; DFNB85				DFNB85	Human only
605429	Deafness, Nonsyndromic, Modifier 1; DFNM1				DFNM1	Human only
400043	Deafness, Y-Linked 1; DFNY1				DFNY1	Human only
188400	DiGeorge Syndrome; DGS	Chromosome 22q11.2 Deletion Syndrome|Hypoplasia of Thymus and Parathyroids			DGCR	Human only
300387	Mental Retardation, X-Linked 63; MRX63	Mental Retardation, X-Linked 68; MRX68	Dgkk	MGI:3580254	DGKK	Human only
601362	Digeorge Syndrome/Velocardiofacial Syndrome Complex 2	DGS2			DGS2	Human only
251880	Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3		Dguok	MGI:1351602	DGUOK	Human only
602398	Desmosterolosis		Dhcr24	MGI:1922004	DHCR24	Human only
233420	46,xy Sex Reversal 7; SRXY7	46,xy Gonadal Dysgenesis, Complete or Partial, Dhh-Related|46,xy Sex Reversal, Partial or Complete, Dhh-Related|Gonadal Dysgenesis, Xy, Male-Limited; GDXYM	Dhh	MGI:94891	DHH	Human only
177720	Pseudohyperkalemia, Familial, 1, Due to Red Cell Leak	PSHK1			DHS	Human only
194380	Dehydrated Hereditary Stomatocytosis; DHS	Desiccytosis, Hereditary|Xerocytosis, Hereditary			DHS	Human only
603528	Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema				DHS	Human only
603933	Microvascular Complications of Diabetes, Susceptibility to, 1; MVCD1	Proliferative Retinopathy, Diabetic, Susceptibility to			DIANPH	Human only
124900	Deafness, Autosomal Dominant 1; DFNA1	Deafness, Progressive Low Tone|Hereditary Low Frequency Hearing Loss; LFHL1|Konigsmark Syndrome	Diap1	MGI:1194490	DIAPH1	Human only
300511	Premature Ovarian Failure 2A; POF2A		Diap2	MGI:1858500	DIAPH2	Human only
609129	Auditory Neuropathy, Autosomal Dominant, 1; AUNA1	Auditory Neuropathy, Nonsyndromic Dominant; NSDAN	Diap3	MGI:1927222	DIAPH3	Human only
601200	Pleuropulmonary Blastoma; PPB	Ppb Familial Tumor and Dysplasia Syndrome; PPBFTDS	Dicer1	MGI:2177178	DICER1	Human only
142340	Diaphragmatic Hernia, Congenital	Diaphragm, Unilateral Agenesis of|Diaphragmatic Defect, Congenital|Dih|Hernia, Congenital Diaphragmatic; HCD; CDH			DIH1	Human only
222400	Diaphragmatic Hernia 2; DIH2				DIH2	Human only
147892	Deiodinase, Iodothyronine, Type I; DIO1		Dio1	MGI:94896	DIO1	Human only
263000	Interstitial Pneumonitis, Desquamative, Familial; DIP	Ild, Desquamative|Interstitial Lung Disease, Desquamative|Pneumonia, Desquamative Interstitial, Familial|Pneumonitis, Desquamative Interstitial, Familial			DIP	Human only
136630	Mental Retardation, Fra12a Type		Dip2b	MGI:2145977	DIP2B	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Dirc2	MGI:2387188	DIRC2	Human only
604906	Schizophrenia 9; SCZD9	Schizophrenia Susceptibility Locus, Chromosome 1q42-Related	Disc1	MGI:2447658	DISC1	Human only
181500	Schizophrenia; SCZD				DISC2	Human only
127600	Dyskeratosis, Hereditary Benign Intraepithelial	DKBI			DKBI	Human only
300240	Hoyeraal-Hreidarsson Syndrome; HHS	Cerebellar Hypoplasia with Pancytopenia|Growth Retardation, Prenatal, with Progressive Pancytopenia and Cerebellar Hypoplasia	Dkc1	MGI:1861727	DKC1	Human only
245348	Pyruvate Dehydrogenase E2 Deficiency; PDHDD	Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex	Dlat	MGI:2385311	DLAT	Human only
248600	Maple Syrup Urine Disease	BCKD Deficiency|Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency|Branched-Chain Ketoaciduria|Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to|MSUD	Dld	MGI:107450	DLD	Human only
256000	Leigh Syndrome; LS		Dld	MGI:107450	DLD	Human only
133239	Esophageal Cancer		Dlec1	MGI:2443671	DLEC1	Human only
211980	Lung Cancer		Dlec1	MGI:2443671	DLEC1	Human only
266600	Inflammatory Bowel Disease 1; IBD1		Dlg5	MGI:1918478	DLG5	Human only
104510	Amelogenesis Imperfecta, Type IV; AI4	Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; AIHHT	Dlx3	MGI:94903	DLX3	Human only
190320	Trichodentoosseous Syndrome	TDO Syndrome	Dlx3	MGI:94903	DLX3	Human only
137800	Glioma Susceptibility 1; GLM1		Dmbt1	MGI:106210	DMBT1	Human only
155255	Medulloblastoma; MDB		Dmbt1	MGI:106210	DMBT1	Human only
302045	Cardiomyopathy, Dilated, 3b; CMD3B	Cardiomyopathy, Dilated, X-Linked; XLCM	Dmd	MGI:94909	DMD	Human only
605850	Dimethylglycine Dehydrogenase Deficiency; DMGDHD	DMGDH Deficiency	Dmgdh	MGI:1921379	DMGDH	Human only
241520	Hypophosphatemic Rickets, Autosomal Recessive, 1; ARHR1	Arhr|Hypophosphatemia, Autosomal Recessive; ARHP	Dmp1	MGI:94910	DMP1	Human only
613193	Ciliary Dyskinesia, Primary, 13; CILD13	Ciliary Dyskinesia, Primary, 13, with or without Situs Inversus	Lrrc50	MGI:1915520	DNAAF1	Human only
612518	Ciliary Dyskinesia, Primary, 10; CILD10		1110034A24Rik	MGI:1923566	DNAAF2	Human only
611884	Ciliary Dyskinesia, Primary, 7; CILD7	Ciliary Dyskinesia, Primary, 7, with or without Situs Inversus	Dnahc11	MGI:1100864	DNAH11	Human only
612444	Ciliary Dyskinesia, Primary, 9; CILD9	Ciliary Dyskinesia, Primary, 9, with or without Situs Inversus	Dnaic2	MGI:2685574	DNAI2	Human only
610198	3-methylglutaconic Aciduria, Type V; MGCA5	Cardiomyopathy, Dilated, with Ataxia; DCMA|Mga, Type V; MGA5	Dnajc19	MGI:1914963	DNAJC19	Human only
160150	Myopathy, Centronuclear, 1; CNM1	Myopathy, Centronuclear, Autosomal Dominant|Myotubular Myopathy, Autosomal Dominant	Dnm2	MGI:109547	DNM2	Human only
606482	Charcot-Marie-Tooth Disease, Dominant Intermediate B; CMTDIB	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B|DI-CMTB	Dnm2	MGI:109547	DNM2	Human only
243700	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	Hies, Autosomal Recessive|Hyper-Ige Syndrome, Autosomal Recessive	Dock8	MGI:1921396	DOCK8	Human only
208150	Fetal Akinesia Deformation Sequence; FADS	Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia|Fetal Akinesia Sequence|Pena-Shokeir Syndrome, Type I	Dok7	MGI:3584043	DOK7	Human only
254300	Myasthenia, Limb-Girdle, Familial	Cms IB|Congenital Myasthenic Syndrome Type IB; CMS1B|LGM|Myasthenic Myopathy, Formerly	Dok7	MGI:3584043	DOK7	Human only
610768	Congenital Disorder of Glycosylation, Type Im; CDG1M	Cdg Im; CDGIM|Dk1 Deficiency|Dolichol Kinase Deficiency	Dolk	MGI:2677836	DOLK	Human only
608093	Congenital Disorder of Glycosylation, Type IJ; CDG1J	Cdg IJ; CDGIJ	Dpagt1	MGI:1196396	DPAGT1	Human only
608799	Congenital Disorder of Glycosylation, Type IE; CDG1E	Cdg IE; CDGIE	Dpm1	MGI:1330239	DPM1	Human only
612937	Congenital Disorder of Glycosylation, Type Io; CDG1O	Cdg Io; CDGIO|Cdg1(dpm3)	Dpm3	MGI:1915813	DPM3	Human only
612956	Ventricular Fibrillation, Paroxysmal Familial, 2; VF2		Dpp6	MGI:94921	DPP6	Human only
274270	Dihydropyrimidine Dehydrogenase Deficiency	Dpd Deficiency|Dpyd Deficiency|Thymine-Uraciluria, Hereditary	Dpyd	MGI:2139667	DPYD	Human only
222748	Dihydropyrimidinase Deficiency	Dihydropyrimidinuria|Dph Deficiency|Dpys Deficiency	Dpys	MGI:1928679	DPYS	Human only
159900	Myoclonic Dystonia	Dystonia 11; DYT11|Dystonia, Alcohol-Responsive|Myoclonus, Hereditary Essential|Myoclonus-Dystonia Syndrome	Drd2	MGI:94924	DRD2	Human only
181500	Schizophrenia; SCZD		Drd3	MGI:94925	DRD3	Human only
190300	Tremor, Hereditary Essential, 1; ETM1	Tremor, Familial Essential, 1; FET1	Drd3	MGI:94925	DRD3	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Drd4	MGI:94926	DRD4	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Drd4	MGI:94926	DRD4	Human only
601696	Novelty Seeking Personality Trait		Drd4	MGI:94926	DRD4	Human only
126453	Dopamine Receptor D5; DRD5		Drd5	MGI:94927	DRD5	Human only
143465	Attention Deficit-Hyperactivity Disorder; ADHD	Hyperactivity of Childhood	Drd5	MGI:94927	DRD5	Human only
606798	Blepharospasm, Benign Essential		Drd5	MGI:94927	DRD5	Human only
607728	Porokeratosis, Disseminated Superficial Actinic, 2	DSAP2			DSAP2	Human only
612293	Porokeratosis, Disseminated Superficial Actinic, 3	Dsap3			DSAP3	Human only
612353	Porokeratosis, Disseminated Superficial Actinic, 4	Dsap4			DSAP4	Human only
610476	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11; ARVD11	Arrhythmogenic Right Ventricular Cardiomyopathy 11; ARVC11	Dsc2	MGI:103221	DSC2	Human only
613102	Hypotrichosis and Recurrent Skin Vesicles		Dsc3	MGI:1194993	DSC3	Human only
148700	Keratosis Palmoplantaris Striata I; PPKS1	Keratoderma, Palmoplantar, Striate Form I; KPPS1|Striate Palmoplantar Keratoderma I; SPPK1	Dsg1a	MGI:94930	DSG1	Human only
610193	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10; ARVD10	Arrhythmogenic Right Ventricular Cardiomyopathy 10; ARVC10	Dsg2	MGI:1196466	DSG2	Human only
612877	Cardiomyopathy, Dilated, 1bb; CMD1BB		Dsg2	MGI:1196466	DSG2	Human only
605676	Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma	Carvajal Syndrome|DCWHK|Palmoplantar Keratoderma with Left Ventricular Cardiomyopathy and Woolly Hair	Dsp	MGI:109611	DSP	Human only
607450	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8; ARVD8	Arrhythmogenic Right Ventricular Cardiomyopathy 8; ARVC8	Dsp	MGI:109611	DSP	Human only
607655	Skin Fragility-Woolly Hair Syndrome	SFWHS	Dsp	MGI:109611	DSP	Human only
609638	Epidermolysis Bullosa, Lethal Acantholytic	Ebla	Dsp	MGI:109611	DSP	Human only
612908	Keratosis Palmoplantaris Striata II; PPKS2	Keratoderma, Palmoplantar, Striate Form II; KPPS2|Striate Palmoplantar Keratoderma II; SPPK2	Dsp	MGI:109611	DSP	Human only
125420	Dentin Dysplasia, Type II	Anomalous Dysplasia of Dentin|Coronal Dentin Dysplasia|Dentin Dysplasia, Shields Type II|DTDP2|Pulp Stones|Pulpal Dysplasia	Dspp	MGI:109172	DSPP	Human only
125490	Dentinogenesis Imperfecta 1; DGI1	Capdepont Teeth|Dentinogenesis Imperfecta without Osteogenesis Imperfecta|Dentinogenesis Imperfecta, Shields Type II|DGI-II|Opalescent Dentin|Opalescent Teeth without Osteogenesis Imperfecta	Dspp	MGI:109172	DSPP	Human only
605594	Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1	DFNA39/Dentinogenesis Imperfecta 1 Syndrome|DFNA39/DGI1 Syndrome|DGI1/DFNA39 Syndrome	Dspp	MGI:109172	DSPP	Human only
604169	Left Ventricular Noncompaction 1; LVNC1	Left Ventricular Noncompaction with or without Congenital Heart Defects	Dtna	MGI:106039	DTNA	Human only
181500	Schizophrenia; SCZD		Dtnbp1	MGI:2137586	DTNBP1	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Dtnbp1	MGI:2137586	DTNBP1	Human only
127500	Dyschromatosis Universalis Hereditaria 1; DUH1				DUH	Human only
612715	Dyschromatosis Universalis Hereditaria 2; DUH2				DUH2	Human only
274900	Thyroid Dyshormonogenesis 5; TDH5	Hypothyroidism, Congenital, Due to Dyshormonogenesis, 5|Thyroid Hormonogenesis, Genetic Defect In, 5	Duoxa2	MGI:1914061	DUOXA2	Human only
613458	Chromosome 16p13.3 Duplication Syndrome				DUP16P13.3	Human only
613215	Chromosome 17p13.3 Duplication Syndrome				DUP17P13.3	Human only
613533	Chromosome 17q21.31 Duplication Syndrome				DUP17Q21.31	Human only
613618	Chromosome 17q23.1-Q23.2 Duplication Syndrome				DUP17Q23.1Q23.2	Human only
609334	Chromosome 18 Pericentric Inversion				DUP18PDEL18Q	Human only
612475	Chromosome 1q21.1 Duplication Syndrome				DUP1Q21	Human only
608363	Chromosome 22q11.2 Duplication Syndrome	Chromosome 22q11.2 Microduplication Syndrome			DUP22Q11.2	Human only
613681	Chromosome 2q31.1 Duplication Syndrome	Mesomelic Dysplasia, 2q31.1 Duplication-Related			DUP2Q31.1	Human only
611936	Chromosome 3q29 Duplication Syndrome	Microduplication 3q29 Syndrome			DUP3Q29	Human only
613174	Chromosome 5p13 Duplication Syndrome				DUP5P13	Human only
609757	Williams-Beuren Region Duplication Syndrome	Chromosome 7q11.23 Duplication Syndrome|Wbs Duplication Syndrome			DUP7Q11.23	Human only
126900	Dupuytren Contracture				DUPC1	Human only
300801	Chromosome Xp11.23-P11.22 Duplication Syndrome				DUPXP11.23P11.22	Human only
300815	Chromosome Xq28 Duplication Syndrome	Gdi1 Duplication Syndrome			DUPXQ28	Human only
126800	Duane Retraction Syndrome 1; DURS1	DRS|Duane Anomaly|Duane Syndrome; DUS|Retraction Syndrome			DURS1	Human only
220200	Dandy-Walker Syndrome; DWS				DWS	Human only
263510	Short Rib-Polydactyly Syndrome, Type III	Polydactyly with Neonatal Chondrodystrophy, Type III|SRPS, TYPE III|Verma-Naumoff Syndrome	Dync2h1	MGI:107736	DYNC2H1	Human only
263520	Short Rib-Polydactyly Syndrome, Type II	Majewski Syndrome|Polydactyly with Neonatal Chondrodystrophy, Type II|SRPS, TYPE II	Dync2h1	MGI:107736	DYNC2H1	Human only
613091	Asphyxiating Thoracic Dystrophy 3; ATD3		Dync2h1	MGI:107736	DYNC2H1	Human only
128200	Episodic Kinesigenic Dyskinesia 1; EKD1	Dystonia 10; DYT10|Dystonia, Familial Paroxysmal|Paroxysmal Kinesigenic Choreoathetosis; PKC|Paroxysmal Kinesigenic Dyskinesia; PKD			DYT10	Human only
607671	Dystonia 13, Torsion; DYT13				DYT13	Human only
607488	Dystonia 15, Myoclonic; DYT15				DYT15	Human only
612406	Dystonia 17, Torsion, Autosomal Recessive; DYT17				DYT17	Human only
224500	Dystonia 2, Torsion, Autosomal Recessive; DYT2	Dystonia Musculorum Deformans 2			DYT2	Human only
128101	Dystonia 4, Torsion, Autosomal Dominant; DYT4	Dystonia Musculorum Deformans 4			DYT4	Human only
602124	Dystonia 7, Torsion; DYT7				DYT7	Human only
127700	Dyslexia, Susceptibility to, 1; DYX1	Word-Blindness, Congenital			DYX1	Human only
127700	Dyslexia, Susceptibility to, 1; DYX1	Word-Blindness, Congenital	Dyx1c1	MGI:1914935	DYX1C1	Human only
604254	Dyslexia, Susceptibility to, 3; DYX3				DYX3	Human only
606896	Dyslexia, Susceptibility to, 5; DYX5				DYX5	Human only
606616	Dyslexia, Susceptibility to, 6; DYX6				DYX6	Human only
608995	Dyslexia, Susceptibility to, 8; DYX8				DYX8	Human only
300509	Dyslexia, Susceptibility to, 9; DYX9				DYX9	Human only
129150	Echo Virus 11 Sensitivity; E11S				E11S	Human only
606554	Episodic Ataxia, Type 3; EA3	Ataxia, Episodic, with Vertigo and Tinnitus			EA3	Human only
611907	Episodic Ataxia, Type 7; EA7				EA7	Human only
302000	Bullous Dystrophy, Hereditary Macular Type	Epidermolysis Bullosa, Macular Type; EBM			EBM	Human only
226500	Epidermolysis Bullosa Dystrophica Neurotrophica	Epidermolysis Bullosa Progressiva, Recessive; EBR3|Epidermolysis Bullosa with Congenital Deafness			EBR3	Human only
132850	Epstein-Barr Virus Insertion Site 1; EBVS1	Epstein-Barr Virus Integration Site			EBVS1	Human only
600131	Epilepsy, Childhood Absence, Susceptibility to, 1; ECA1				ECA1	Human only
263400	Erythrocytosis, Familial, 2; ECYT2	Erythrocytosis, Autosomal Recessive Benign|Polycythemia, Chuvash Type|Polycythemia, Vhl-Dependent			ECB2	Human only
145500	Hypertension, Essential	EHT	Ece1	MGI:1101357	ECE1	Human only
247100	Lipoid Proteinosis of Urbach and Wiethe	Hyalinosis Cutis Et Mucosae|Lipoid Proteinosis|Urbach-Wiethe Disease	Ecm1	MGI:103060	ECM1	Human only
117100	Centralopathic Epilepsy	Benign Epilepsy of Childhood with Centrotemporal Spikes; BECTS|Benign Rolandic Epilepsy|Centrotemporal Epilepsy; ECT|Temporal-Central Focal Epilepsy			ECT	Human only
313500	Tooth Agenesis, Selective, X-Linked, 1; STHAGX1	Hypodontia/Oligodontia, X-Linked, 1	Eda	MGI:1195272	EDA	Human only
129490	Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; HED		Edar	MGI:1343498	EDAR	Human only
129490	Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; HED		Edaradd	MGI:1931001	EDARADD	Human only
224900	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal Dysplasia, Anhidrotic	Edaradd	MGI:1931001	EDARADD	Human only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Edn3	MGI:95285	EDN3	Human only
277580	Waardenburg Syndrome, Type 4A; WS4A	Shah-Waardenburg Syndrome|Waardenburg Syndrome with Hirschsprung Disease, Type 4a|Waardenburg Syndrome, Type IVA|Waardenburg-Shah Syndrome|Ws4	Edn3	MGI:95285	EDN3	Human only
613712	Hirschsprung Disease, Susceptibility to, 4; HSCR4		Edn3	MGI:95285	EDN3	Human only
157300	Migraine with or without Aura, Susceptibility to, 1	MGAU; MA|MGR1|Migraine	Ednra	MGI:105923	EDNRA	Human only
600501	Abcd Syndrome; ABCDS	Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness	Ednrb	MGI:102720	EDNRB	Human only
130080	Ehlers-Danlos Syndrome, Type VIII	EDS VIII|Eds8|Ehlers-Danlos Syndrome, Periodontitis Type|Ehlers-Danlos Syndrome, Periodontosis Type			EDS8	Human only
613576	Ectodermal Dysplasia-Syndactyly Syndrome 2; EDSS2				EDSS2	Human only
610247	Esophagitis, Eosinophilic, 1; EOE1	Esophagitis, Eosinophilic; EE			EE	Human only
129900	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 1; EEC1	EEC|EEC Syndrome 1			EEC1	Human only
219100	Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A	Arcl1|Cutis Laxa, Autosomal Recessive	Efemp2	MGI:1891209	EFEMP2	Human only
607631	Epilepsy, Juvenile Absence, Susceptibility to, 1; EJA1	Jae1	Efhc1	MGI:1919127	EFHC1	Human only
611718	Hypomagnesemia 4, Renal; HOMG4	Hypomagnesemia, Renal, Normocalciuric	Egf	MGI:95290	EGF	Human only
211980	Lung Cancer		Egfr	MGI:95294	EGFR	Human only
600669	Epilepsy, Idiopathic Generalized; EIG				EGI	Human only
609820	Erythrocytosis, Familial, 3; ECYT3		Egln1	MGI:1932286	EGLN1	Human only
145900	Hypertrophic Neuropathy of Dejerine-Sottas	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F; CMT4F|Charcot-Marie-Tooth Disease, Type 3; CMT3|Dejerine-Sottas Neuropathy; DSN|Dejerine-Sottas Syndrome; DSS|Hereditary Motor and Sensory Neuropathy Type III; HMSN3	Egr2	MGI:95296	EGR2	Human only
607678	Charcot-Marie-Tooth Disease, Demyelinating, Type 1D; CMT1D	Charcot-Marie-Tooth Neuropathy, Type 1D|Hereditary Motor and Sensory Neuropathy 1d|HMSN ID|HMSN1D	Egr2	MGI:95296	EGR2	Human only
611868	Prostate Cancer, Hereditary, 12; HPC12		Ehbp1	MGI:2667252	EHBP1	Human only
603896	Leukoencephalopathy with Vanishing White Matter; VWM	Childhood Ataxia with Central Nervous System Hypomyelinization; CACH|Vanishing White Matter Leukodystrophy	Eif2b1	MGI:2384802	EIF2B1	Human only
603896	Leukoencephalopathy with Vanishing White Matter; VWM	Childhood Ataxia with Central Nervous System Hypomyelinization; CACH|Vanishing White Matter Leukodystrophy	Eif2b2	MGI:2145118	EIF2B2	Human only
603896	Leukoencephalopathy with Vanishing White Matter; VWM	Childhood Ataxia with Central Nervous System Hypomyelinization; CACH|Vanishing White Matter Leukodystrophy	Eif2b3	MGI:1313286	EIF2B3	Human only
603896	Leukoencephalopathy with Vanishing White Matter; VWM	Childhood Ataxia with Central Nervous System Hypomyelinization; CACH|Vanishing White Matter Leukodystrophy	Eif2b4	MGI:95300	EIF2B4	Human only
603896	Leukoencephalopathy with Vanishing White Matter; VWM	Childhood Ataxia with Central Nervous System Hypomyelinization; CACH|Vanishing White Matter Leukodystrophy	Eif2b5	MGI:2446176	EIF2B5	Human only
600669	Epilepsy, Idiopathic Generalized; EIG				EIG2	Human only
606972	Epilepsy, Idiopathic Generalized, Susceptibility to, 2; EIG2	Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 14			EIG2	Human only
600669	Epilepsy, Idiopathic Generalized; EIG				EIG3	Human only
608762	Epilepsy, Idiopathic Generalized, Susceptibility to, 3; EIG3	Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9			EIG3	Human only
609750	Epilepsy, Idiopathic Generalized, Susceptibility to, 4; EIG4	Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 10			EIG4	Human only
611934	Epilepsy, Idiopathic Generalized, Susceptibility to, 5; EIG5	Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 10			EIG5	Human only
605021	Myoclonic Epilepsy, Familial Infantile; FIME	EIM			EIM	Human only
604827	Epilepsy, Idiopathic Generalized, Susceptibility to, 7; EIG7				EJM2	Human only
608816	Myoclonic Epilepsy, Juvenile, Susceptibility to, 3; EJM3				EJM3	Human only
611364	Myoclonic Epilepsy, Juvenile, Susceptibility to, 4; EJM4				EJM4	Human only
611031	Episodic Kinesigenic Dyskinesia 2; EKD2	Dystonia 19; DYT19			EKD2	Human only
609313	Erythrokeratodermia Variabilis 3	EKV3|Erythrokeratodermia Variabilis, Kamouraska Type			EKV3	Human only
176807	Prostate Cancer		Elac2	MGI:1890496	ELAC2	Human only
162800	Cyclic Neutropenia	Cyclic Hematopoiesis	Elane	MGI:2679229	ELANE	Human only
202700	Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1		Elane	MGI:2679229	ELANE	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial	Elmod2	MGI:2445165	ELMOD2	Human only
123700	Cutis Laxa, Autosomal Dominant 1; ADCL1		Eln	MGI:95317	ELN	Human only
194050	Williams-Beuren Syndrome; WBS	Chromosome 7q11.23 Deletion Syndrome, 1.5- to 1.8-Mb|Williams Syndrome; WMS; WS	Eln	MGI:95317	ELN	Human only
310300	Emery-Dreifuss Muscular Dystrophy 1, X-Linked; EDMD1	EMD1|Humeroperoneal Neuromuscular Disease, Formerly|Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures|Scapuloperoneal Syndrome, X-Linked, Formerly	Emd	MGI:108117	EMD	Human only
211180	Bowen-Conradi Syndrome; BWCNS	Bowen Hutterite Syndrome, Formerly	Emg1	MGI:1315195	EMG1	Human only
300211	Episodic Muscle Weakness, X-Linked; EMWX				EMWX	Human only
269160	Schizencephaly		Emx2	MGI:95388	EMX2	Human only
611016	Autism, Susceptibility to, 10; AUTS10		En2	MGI:95390	EN2	Human only
204650	Amelogenesis Imperfecta, Type Ic; AI1C	Amelogenesis Imperfecta, Hypoplastic, with or without Openbite Malocclusion, Autosomal Recessive|Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive	Enam	MGI:1333772	ENAM	Human only
131200	Endometriosis, Susceptibility to, 1	Endo1			ENDO1	Human only
603204	Epilepsy, Nocturnal Frontal Lobe, Type 2	ENFL2			ENFL2	Human only
612932	Glycogen Storage Disease Xiii; GSD13	Enolase 3 Deficiency|Enolase-Beta Deficiency|Gsd Xiii	Eno3	MGI:95395	ENO3	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Enpp1	MGI:97370	ENPP1	Human only
208000	Arterial Calcification, Generalized, of Infancy; GACI	Arterial Calcification, Idiopathic Infantile|Idiopathic Infantile Arterial Calcification; IIAC	Enpp1	MGI:97370	ENPP1	Human only
601665	Obesity		Enpp1	MGI:97370	ENPP1	Human only
613312	Hypophosphatemic Rickets, Autosomal Recessive, 2; ARHR2		Enpp1	MGI:97370	ENPP1	Human only
600631	Enuresis, Nocturnal, 1; ENUR1	Bedwetting			ENUR1	Human only
600808	Enuresis, Nocturnal, 2; ENUR2				ENUR2	Human only
613412	Esophagitis, Eosinophilic, 2; EOE2				EOE2	Human only
131400	Eosinophilia, Familial	EOS			EOS	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Ep300	MGI:1276116	EP300	Human only
180849	Rubinstein-Taybi Syndrome 1; RSTS1	Broad Thumb-Hallux Syndrome|Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation|Rubinstein Syndrome	Ep300	MGI:1276116	EP300	Human only
613684	Rubinstein-Taybi Syndrome 2; RSTS2		Ep300	MGI:1276116	EP300	Human only
611783	Erythrocytosis, Familial, 4; ECYT4		Epas1	MGI:109169	EPAS1	Human only
612690	Spherocytosis, Type 5; SPH5	Spherocytosis, Hereditary, 5; HS5	Epb4.2	MGI:95402	EPB42	Human only
613217	Diarrhea 5, with Tufting Enteropathy, Congenital; DIAR5	Enteropathy, Congenital Tufting; CTE|Intestinal Epithelial Cell Dysplasia	Epcam	MGI:106653	EPCAM	Human only
613244	Colorectal Cancer, Hereditary Nonpolyposis, Type 8; HNPCC8		Epcam	MGI:106653	EPCAM	Human only
603688	Prostate Cancer/Brain Cancer Susceptibility	CAPB|PCBC	Ephb2	MGI:99611	EPHB2	Human only
132810	Epoxide Hydrolase 1, Microsomal; EPHX1	Epoxide Hydrolase; EPHX	Ephx1	MGI:95405	EPHX1	Human only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Ephx1	MGI:95405	EPHX1	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Ephx2	MGI:99500	EPHX2	Human only
612623	Microvascular Complications of Diabetes, Susceptibility to, 2; MVCD2	End-Stage Renal Disease, Diabetic, Susceptibility to|Proliferative Retinopathy, Diabetic, Susceptibility to	Epo	MGI:95407	EPO	Human only
611631	Epilepsy, Familial Temporal Lobe, 4; ETL4	Epilepsy, Occipitotemporal Lobe, and Migraine with Aura; EPOLM			EPOLM	Human only
607221	Epilepsy, Partial, with Pericentral Spikes	EPPS|Peps			EPPS	Human only
608105	Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp; EPRPDC	RE-PED-WC			EPRPDC	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Erbb2	MGI:95410	ERBB2	Human only
137800	Glioma Susceptibility 1; GLM1		Erbb2	MGI:95410	ERBB2	Human only
211980	Lung Cancer		Erbb2	MGI:95410	ERBB2	Human only
607598	Lethal Congenital Contracture Syndrome 2; LCCS2	Multiple Contracture Syndrome, Israeli Bedouin Type A	Erbb3	MGI:95411	ERBB3	Human only
610758	Cerebrooculofacioskeletal Syndrome 4; COFS4		Ercc1	MGI:95412	ERCC1	Human only
610756	Cerebrooculofacioskeletal Syndrome 2; COFS2		Ercc2	MGI:95413	ERCC2	Human only
601675	Trichothiodystrophy, Photosensitive; TTDP		Ercc3	MGI:95414	ERCC3	Human only
610965	Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome	Ercc4	MGI:1354163	ERCC4	Human only
214150	Cerebrooculofacioskeletal Syndrome 1; COFS1	COFS Syndrome|Pena-Shokeir Syndrome, Type II	Ercc5	MGI:103582	ERCC5	Human only
211980	Lung Cancer		Ercc6	MGI:1100494	ERCC6	Human only
214150	Cerebrooculofacioskeletal Syndrome 1; COFS1	COFS Syndrome|Pena-Shokeir Syndrome, Type II	Ercc6	MGI:1100494	ERCC6	Human only
278800	De Sanctis-Cacchione Syndrome		Ercc6	MGI:1100494	ERCC6	Human only
600630	Uv-Sensitive Syndrome; UVS		Ercc6	MGI:1100494	ERCC6	Human only
216400	Cockayne Syndrome, Type A; CSA	Ckn1	Ercc8	MGI:1919241	ERCC8	Human only
268300	Roberts Syndrome; RBS	Long Bone Deficiencies Associated with Cleft Lip-Palate	Esco2	MGI:1919238	ESCO2	Human only
269000	SC Phocomelia Syndrome	Sc Pseudothalidomide Syndrome	Esco2	MGI:1919238	ESCO2	Human only
609006	Deafness, Autosomal Recessive 36, with or without Vestibular Involvement;	Dfnb36	Espn	MGI:1861630	ESPN	Human only
157300	Migraine with or without Aura, Susceptibility to, 1	MGAU; MA|MGR1|Migraine	Esr1	MGI:1352467	ESR1	Human only
608446	Myocardial Infarction, Susceptibility to		Esr1	MGI:1352467	ESR1	Human only
133430	Estrogen Receptor 1; ESR1	Estrogen Receptor; ESR; ER	Esr1	MGI:1352467	ESR1	Human only
608565	Deafness, Autosomal Recessive 35; DFNB35		Esrrb	MGI:1346832	ESRRB	Human only
231680	Multiple Acyl-CoA Dehydrogenase Deficiency; MADD	GA II|Glutaric Acidemia II|Glutaric Aciduria II	Etfa	MGI:106092	ETFA	Human only
231680	Multiple Acyl-CoA Dehydrogenase Deficiency; MADD	GA II|Glutaric Acidemia II|Glutaric Aciduria II	Etfb	MGI:106098	ETFB	Human only
231680	Multiple Acyl-CoA Dehydrogenase Deficiency; MADD	GA II|Glutaric Acidemia II|Glutaric Aciduria II	Etfdh	MGI:106100	ETFDH	Human only
608096	Epilepsy, Familial Temporal Lobe, 2; ETL2	FTLE			ETL2	Human only
602134	Tremor, Hereditary Essential, 2; ETM2				ETM2	Human only
131440	Myeloproliferative Disorder, Chronic, with Eosinophilia	Eosinophils, Malignant Proliferation of|MPE; EMP	Etv6	MGI:109336	ETV6	Human only
601626	Leukemia, Acute Myeloid; AML		Etv6	MGI:109336	ETV6	Human only
193530	Weyers Acrofacial Dysostosis	Acrodental Dysostosis of Weyers|Curry-Hall Syndrome	Evc	MGI:1890596	EVC	Human only
225500	Ellis-Van Creveld Syndrome; EVC	Chondroectodermal Dysplasia|Mesoectodermal Dysplasia	Evc2	MGI:1915775	EVC2	Human only
605750	Exudative Vitreoretinopathy 3; EVR3				EVR3	Human only
612219	Ewing Sarcoma; ES		Ewsr1	MGI:99960	EWSR1	Human only
215300	Chondrosarcoma		Ext1	MGI:894663	EXT1	Human only
600209	Exostoses, Multiple, Type III; EXT3				EXT3	Human only
166780	Otofaciocervical Syndrome	OFC Syndrome	Eya1	MGI:109344	EYA1	Human only
601316	Deafness, Autosomal Dominant 10; DFNA10		Eya4	MGI:1337104	EYA4	Human only
605362	Cardiomyopathy, Dilated, 1J; CMD1J	Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant	Eya4	MGI:1337104	EYA4	Human only
602772	Retinitis Pigmentosa 25; RP25				EYS	Human only
612416	Factor XI Deficiency	F11 Deficiency|Plasma Thromboplastin Antecedent Deficiency|Pta Deficiency|Rosenthal Syndrome	F11	MGI:99481	F11	Human only
234000	Factor XII Deficiency	F12 Deficiency|HAF Deficiency|Hageman Factor Deficiency	F12	MGI:1891012	F12	Human only
610618	Angioedema, Hereditary, Type III; HAE3	Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function|Estrogen-Related Hae|Estrogen-Sensitive Hae|Hae III|Hae with Normal C1 Inhibitor Concentration and Function|Hereditary Angioedema with Normal C1 Inhibitor Activity	F12	MGI:1891012	F12	Human only
134580	Factor XIII, B Subunit; F13B	Fibrin Stabilizing Factor, B Subunit	F13b	MGI:88379	F13B	Human only
613235	Factor XIII, B Subunit, Deficiency of		F13b	MGI:88379	F13B	Human only
188050	Thrombosis, Susceptibility to		F2	MGI:88380	F2	Human only
601367	Stroke, Ischemic	Cerebral Infarction|Cerebrovascular Accident	F2	MGI:88380	F2	Human only
613679	Prothrombin Deficiency, Congenital		F2	MGI:88380	F2	Human only
188055	Thrombophilia Due to Activated Protein C Resistance	Activated Protein C Resistance|APC Resistance|PCCF Deficiency|Proc Cofactor Deficiency|Thrombophilia Due to Deficiency of Activated Protein C Cofactor	F5	MGI:88382	F5	Human only
227400	Factor V Deficiency	Labile Factor Deficiency|Owren Parahemophilia|Parahemophilia	F5	MGI:88382	F5	Human only
600880	Budd-Chiari Syndrome; BDCHS		F5	MGI:88382	F5	Human only
601367	Stroke, Ischemic	Cerebral Infarction|Cerebrovascular Accident	F5	MGI:88382	F5	Human only
227500	Factor VII Deficiency	F7 Deficiency|Hypoproconvertinemia	F7	MGI:109325	F7	Human only
122700	Coumarin Resistance	Coumarin, Poor Metabolism of	F9	MGI:88384	F9	Human only
300746	Coagulation Factor IX; F9	Factor IX	F9	MGI:88384	F9	Human only
300807	Thrombophilia, X-Linked, Due to Factor IX Defect		F9	MGI:88384	F9	Human only
602935	Fatty Acid Amide Hydrolase; FAAH		Faah	MGI:109609	FAAH	Human only
610532	Leukodystrophy, Hypomyelinating, 5; HLD5	Hypomyelination and Congenital Cataract: Hcc	Fam126a	MGI:2149839	FAM126A	Human only
613115	Neuropathy, Hereditary Sensory and Autonomic, Type IIB; HSAN2B		Fam134b	MGI:1913520	FAM134B	Human only
606068	Retinitis Pigmentosa 28; RP28		Fam161a	MGI:1921123	FAM161A	Human only
259775	Raine Syndrome; RNS	Osteosclerotic Bone Dysplasia, Lethal	Fam20c	MGI:2136853	FAM20C	Human only
300707	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations;	Star|Star Syndrome|Syndactyly with Renal and Anogenital Malformations			FAM58A	Human only
130900	Amelogenesis Imperfecta, Type III; AI3	Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant; ADHCAI|Amelogenesis Imperfecta, Hypomineralization Type	Fam83h	MGI:2145900	FAM83H	Human only
613608	Epilepsy, Familial Adult Myoclonic, 3; FAME3	Cortical Myoclonic Tremor with Epilepsy, Familial, 3; FCMTE3			FAME3	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fancb	MGI:2448558	FANCB	Human only
300514	Fanconi Anemia, Complementation Group B; FANCB	FACB|Fanconi Pancytopenia, Type 2; FA2	Fancb	MGI:2448558	FANCB	Human only
314390	Vacterl Association, X-Linked, with or without Hydrocephalus; VACTERLX	Vacterl-H, X-Linked	Fancb	MGI:2448558	FANCB	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fancc	MGI:95480	FANCC	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fancd2	MGI:2448480	FANCD2	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fance	MGI:1920025	FANCE	Human only
600901	Fanconi Anemia, Complementation Group E; FANCE	Face	Fance	MGI:1920025	FANCE	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fancf	MGI:3689889	FANCF	Human only
603467	Fanconi Anemia, Complementation Group F; FANCF		Fancf	MGI:3689889	FANCF	Human only
227650	Fanconi Anemia, Complementation Group A; FANCA		Fancg	MGI:1926471	FANCG	Human only
609053	Fanconi Anemia, Complementation Group I; FANCI		Fanci	MGI:2384790	FANCI	Human only
152700	Systemic Lupus Erythematosus; SLE		Fasl	MGI:99255	FASLG	Human only
220110	Mitochondrial Complex IV Deficiency	COX Deficiency|Cytochrome C Oxidase Deficiency	Fastkd2	MGI:1922869	FASTKD2	Human only
608180	Synpolydactyly 2; SPD2	Synpolydactyly, 3/3-Prime/4, Associated with Metacarpal and Metatarsal Synostoses	Fbln1	MGI:95487	FBLN1	Human only
123700	Cutis Laxa, Autosomal Dominant 1; ADCL1		Fbln5	MGI:1346091	FBLN5	Human only
608895	Macular Degeneration, Age-Related, 3; ARMD3		Fbln5	MGI:1346091	FBLN5	Human only
129600	Ectopia Lentis, Isolated, Autosomal Dominant		Fbn1	MGI:95489	FBN1	Human only
182212	Shprintzen-Goldberg Craniosynostosis Syndrome	Craniosynostosis with Arachnodactyly and Abdominal Hernias|Marfanoid Craniosynostosis Syndrome|Marfanoid Disorder with Craniosynostosis, Type I|SGS	Fbn1	MGI:95489	FBN1	Human only
184900	Stiff Skin Syndrome; SSKS		Fbn1	MGI:95489	FBN1	Human only
604308	MASS Syndrome	MASS Phenotype|Overlap Connective Tissue Disease; OCTD	Fbn1	MGI:95489	FBN1	Human only
608328	Weill-Marchesani Syndrome 2; WMS2	Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; GEMSS|Mesodermal Dysmorphodystrophy, Congenital|Spherophakia-Brachymorphia Syndrome|Weill-Marchesani Syndrome, Autosomal Dominant	Fbn1	MGI:95489	FBN1	Human only
229700	Fructose-1,6-Bisphosphatase Deficiency		Fbp1	MGI:95492	FBP1	Human only
260300	Parkinson Disease 15, Autosomal Recessive Early-Onset; PARK15	Pallido-Pyramidal Syndrome|Pallidopyramidal Syndrome|Parkinsonian-Pyramidal Syndrome; PKPS	Fbxo7	MGI:1917004	FBXO7	Human only
611162	Malaria, Susceptibility to		Fcgr2b	MGI:95499	FCGR2B	Human only
188030	Thrombocytopenic Purpura, Autoimmune; AITP	Idiopathic Thrombocytopenic Purpura|Immune Thrombocytopenic Purpura; ITP			FCGR2C	Human only
152700	Systemic Lupus Erythematosus; SLE		Fcgr4	MGI:2179523	FCGR3A	Human only
601068	Epilepsy, Familial Adult Myoclonic, 1; FAME1	Benign Adult Familial Myoclonic Epilepsy 1; BAFME1|Cortical Myoclonic Tremor with Epilepsy, Familial, 1; FCMTE1			FCMTE1	Human only
607876	Epilepsy, Familial Adult Myoclonic, 2; FAME2	Benign Adult Familial Myoclonic Epilepsy 2; BAFME2|Cortical Myoclonic Tremor with Epilepsy, Familial, 2; FCMTE2|Cortical Myoclonus and Epilepsy, Autosomal Dominant; ADCME			FCMTE2	Human only
305435	Fetal Hemoglobin Quantitative Trait Locus 3; HBFQTL3	F-Cell Production, X-Linked; FCPX|Heterocellular Hereditary Persistence of Fetal Hemoglobin, Swiss Type|Hpfh, Swiss Type			FCP1	Human only
121210	Febrile Seizures, Familial, 1; FEB1	Convulsions, Familial Febrile; 1			FEB1	Human only
612637	Febrile Seizures, Familial, 10	Convulsions, Familial Febrile, 10; FEB10			FEB10	Human only
602477	Febrile Seizures, Familial, 2; FEB2	Convulsions, Familial Febrile, 2			FEB2	Human only
609255	Febrile Seizures, Familial, 5; FEB5	Convulsions, Familial Febrile, 5			FEB5	Human only
609253	Febrile Seizures, Familial, 6; FEB6	Convulsions, Familial Febrile, 6			FEB6	Human only
611515	Febrile Seizures, Familial, 7; FEB7	Febrile Convulsions, Familial, 7; FEB7			FEB7	Human only
611634	Febrile Seizures, Familial, 9; FEB9	Febrile Convulsions, Familial, 9; FEB9			FEB9	Human only
610158	Corneal Dystrophy, Fuchs Endothelial, 2; FECD2	Corneal Dystrophy, Fuchs Endothelial, Late-Onset|Fcd1 Locus			FECD2	Human only
613267	Corneal Dystrophy, Fuchs Endothelial, 3; FECD3	Corneal Dystrophy, Fuchs Endothelial, Late-Onset|Fcd2 Locus			FECD3	Human only
613269	Corneal Dystrophy, Fuchs Endothelial, 5; FECD5	Corneal Dystrophy, Fuchs Endothelial, Late-Onset|Fcd3 Locus			FECD5	Human only
613271	Corneal Dystrophy, Fuchs Endothelial, 7; FECD7	Corneal Dystrophy, Fuchs Endothelial, Late-Onset|Fcd4 Locus			FECD7	Human only
600638	Fibrosis of Extraocular Muscles, Congenital, 3a, with or without Extraocular Involvement; CFEOM3A	Feom3 Locus			FEOM3	Human only
612840	Leukocyte Adhesion Deficiency, Type III; LAD3	Integrin Activation Deficiency Disease; IADD|Leukocyte Adhesion Deficiency 1 Variant; LAD1V|Leukocyte Adhesion Deficiency 3	Fermt3	MGI:2147790	FERMT3	Human only
105200	Amyloidosis, Familial Visceral	Amyloidosis VIII|Amyloidosis, Familial Renal|Amyloidosis, Systemic Nonneuropathic|German Type Amyloidosis|Ostertag Type Amyloidosis	Fga	MGI:1316726	FGA	Human only
134820	Fibrinogen, A Alpha Polypeptide; FGA		Fga	MGI:1316726	FGA	Human only
202400	Afibrinogenemia, Congenital		Fga	MGI:1316726	FGA	Human only
202400	Afibrinogenemia, Congenital		Fgb	MGI:99501	FGB	Human only
305400	Aarskog-Scott Syndrome; AAS	Faciodigitogenital Syndrome|Faciogenital Dysplasia; FGDY	Fgd1	MGI:104566	FGD1	Human only
609197	Glucocorticoid Deficiency 3; GCCD3	Familial Glucocorticoid Deficiency 3; FGD3|Glucocorticoid Deficiency 2, Formerly; GCCD2, FORMERLY			FGD3	Human only
609311	Charcot-Marie-Tooth Disease, Type 4h; CMT4H	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H|Charcot-Marie-Tooth Neuropathy, Type 4H	Fgd4	MGI:2183747	FGD4	Human only
149730	Lacrimoauriculodentodigital Syndrome; LADD	Levy-Hollister Syndrome	Fgf10	MGI:1099809	FGF10	Human only
180920	Aplasia of Lacrimal and Salivary Glands; ALSG		Fgf10	MGI:1099809	FGF10	Human only
609307	Spinocerebellar Ataxia 27; SCA27	Cerebellar Ataxia, Autosomal Dominant, FGF14-Related	Fgf14	MGI:109189	FGF14	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Fgf20	MGI:1891346	FGF20	Human only
211900	Tumoral Calcinosis, Hyperphosphatemic, Familial; HFTC	Calcinosis, Tumoral, with Hyperphosphatemia|Cortical Hyperostosis with Hyperphosphatemia|Hyperostosis with Hyperphosphatemia|Hyperostosis-Hyperphosphatemia Syndrome; HHS|Lipocalcinogranulomatosis|Morbus Teutschlaender|Teutschlaender Disease, Familial|Tumoral Calcinosis, Primary Hyperphosphatemic; PHPTC	Fgf23	MGI:1891427	FGF23	Human only
610706	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	Deafness with Lamm|Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia	Fgf3	MGI:95517	FGF3	Human only
612702	Kallmann Syndrome 6; KAL6		Fgf8	MGI:99604	FGF8	Human only
612961	Multiple Synostoses Syndrome 3; SYNS3		Fgf9	MGI:104723	FGF9	Human only
123150	Jackson-Weiss Syndrome; JWS	Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities	Fgfr1	MGI:95522	FGFR1	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Fgfr1	MGI:95522	FGFR1	Human only
147950	Kallmann Syndrome 2; KAL2		Fgfr1	MGI:95522	FGFR1	Human only
166250	Osteoglophonic Dysplasia; OGD	Osteoglophonic Dwarfism	Fgfr1	MGI:95522	FGFR1	Human only
190440	Trigonocephaly, Nonsyndromic	Craniosynostosis, Metopic	Fgfr1	MGI:95522	FGFR1	Human only
207410	Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis;	Abs2|Multisynostotic Osteodysgenesis with Long Bone Fractures|Osteodysgenesis, Multisynostotic, with Fractures|Trapezoidocephaly-Synostosis Syndrome	Fgfr1	MGI:95522	FGFR1	Human only
101400	Saethre-Chotzen Syndrome; SCS	Acrocephalosyndactyly, Type III; ACS3|ACS III|Chotzen Syndrome	Fgfr2	MGI:95523	FGFR2	Human only
123150	Jackson-Weiss Syndrome; JWS	Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities	Fgfr2	MGI:95523	FGFR2	Human only
123790	Beare-Stevenson Cutis Gyrata Syndrome; BSTVS	Beare-Stevenson Syndrome|Cutis Gyrata Syndrome of Beare and Stevenson	Fgfr2	MGI:95523	FGFR2	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Fgfr2	MGI:95523	FGFR2	Human only
149730	Lacrimoauriculodentodigital Syndrome; LADD	Levy-Hollister Syndrome	Fgfr2	MGI:95523	FGFR2	Human only
207410	Antley-Bixler Syndrome without Genital Anomalies or Disordered Steroidogenesis;	Abs2|Multisynostotic Osteodysgenesis with Long Bone Fractures|Osteodysgenesis, Multisynostotic, with Fractures|Trapezoidocephaly-Synostosis Syndrome	Fgfr2	MGI:95523	FGFR2	Human only
609579	Scaphocephaly, Maxillary Retrusion, and Mental Retardation		Fgfr2	MGI:95523	FGFR2	Human only
109800	Bladder Cancer		Fgfr3	MGI:95524	FGFR3	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Fgfr3	MGI:95524	FGFR3	Human only
146000	Hypochondroplasia; HCH		Fgfr3	MGI:95524	FGFR3	Human only
149730	Lacrimoauriculodentodigital Syndrome; LADD	Levy-Hollister Syndrome	Fgfr3	MGI:95524	FGFR3	Human only
162900	Nevus, Epidermal	Nevus, Keratinocytic, Nonepidermolytic|Pigmented Moles	Fgfr3	MGI:95524	FGFR3	Human only
603956	Cervical Cancer		Fgfr3	MGI:95524	FGFR3	Human only
610474	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	Catshl Syndrome	Fgfr3	MGI:95524	FGFR3	Human only
612247	Crouzon Syndrome with Acanthosis Nigricans; CAN	Crouzonodermoskeletal Syndrome	Fgfr3	MGI:95524	FGFR3	Human only
613462	Fasting Plasma Glucose Level Quantitative Trait Locus 4; FGQTL4				FGQTL4	Human only
613460	Fasting Plasma Glucose Level Quantitative Trait Locus 6; FGQTL6				FGQTL6	Human only
300321	FG Syndrome 2; FGS2				FGS2	Human only
300406	FG Syndrome 3; FGS3				FGS3	Human only
300581	Fg Syndrome 5; FGS5				FGS5	Human only
150800	Hereditary Leiomyomatosis and Renal Cell Cancer; HLRCC	Leiomyoma, Multiple Cutaneous; MCL|Leiomyomatosis and Renal Cell Cancer, Hereditary; LRCC|Multiple Cutaneous and Uterine Leiomyomata 1, with or without Renal Cell Carcinoma; MCUL1	Fh1	MGI:95530	FH	Human only
606812	Fumarase Deficiency	Fumaric Aciduria	Fh1	MGI:95530	FH	Human only
605635	Hyperaldosteronism, Familial, Type II	FH II			FHA2	Human only
609218	Foveal Hypoplasia and Anterior Segment Dysgenesis	FHASD			FHASD	Human only
300695	Scapuloperoneal Myopathy, X-Linked Dominant; SPM	Scapuloperoneal Myopathy, Fhl1-Related	Fhl1	MGI:1298387	FHL1	Human only
300696	Myopathy, X-Linked, with Postural Muscle Atrophy; XMPMA		Fhl1	MGI:1298387	FHL1	Human only
300717	Myopathy, Reducing Body, X-Linked, Early-Onset, Severe		Fhl1	MGI:1298387	FHL1	Human only
300718	Myopathy, Reducing Body, X-Linked, Childhood-Onset		Fhl1	MGI:1298387	FHL1	Human only
612577	Amyotrophic Lateral Sclerosis 11; ALS11		Fig4	MGI:2143585	FIG4	Human only
612310	Premature Ovarian Failure 6; POF6		Figla	MGI:1349421	FIGLA	Human only
605809	Myasthenia, Familial Infantile, 1	Cms Ia1|Congenital Myasthenic Syndrome Type Ia1; CMS1A1|FIM1			FIMG1	Human only
610698	Macular Degeneration, Age-Related, 4; ARMD4		Fkbp10	MGI:104769	FKBP10	Human only
608516	Major Depressive Disorder; MDD		Fkbp5	MGI:104670	FKBP5	Human only
236670	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1	Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|COD-MD Syndrome|HARD Syndrome|Hydrocephalus, Agyria, and Retinal Dysplasia|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related	Fkrp	MGI:2447586	FKRP	Human only
253280	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 3; MDDGA3	Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related	Fkrp	MGI:2447586	FKRP	Human only
236670	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1	Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|COD-MD Syndrome|HARD Syndrome|Hydrocephalus, Agyria, and Retinal Dysplasia|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related	Fktn	MGI:2179507	FKTN	Human only
611588	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 4; MDDGC4	Muscular Dystrophy, Limb-Girdle, Type 2m; LGMD2M	Fktn	MGI:2179507	FKTN	Human only
611615	Cardiomyopathy, Dilated, 1x; CMD1X	Cardiomyopathy, Dilated, with Mild or No Proximal Muscle Weakness	Fktn	MGI:2179507	FKTN	Human only
613024	Follicular Lymphoma, Susceptibility to, 1; FL1				FL1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Flcn	MGI:2442184	FLCN	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Flcn	MGI:2442184	FLCN	Human only
173600	Pneumothorax, Primary Spontaneous	PSP	Flcn	MGI:2442184	FLCN	Human only
613282	Fatty Liver Disease, Nonalcoholic, Susceptibility to, 1; NAFLD1				FLD1	Human only
146700	Ichthyosis Vulgaris	Ichthyosis Simplex	Flg	MGI:95553	FLG	Human only
603165	Dermatitis, Atopic	ATOD	Flg	MGI:95553	FLG	Human only
605803	Dermatitis, Atopic, 2; ATOD2		Flg	MGI:95553	FLG	Human only
300048	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	CIIP, X-Linked; CIIPX|Congenital Idiopathic Intestinal Pseudoobstruction; CIIP|Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement|IPOX	Flna	MGI:95556	FLNA	Human only
300244	Terminal Osseous Dysplasia; TOD	Odpd|ODPF Syndrome|Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula; ODPF|Terminal Osseous Dysplasia and Pigmentary Defects; TODPD	Flna	MGI:95556	FLNA	Human only
300321	FG Syndrome 2; FGS2		Flna	MGI:95556	FLNA	Human only
305620	Frontometaphyseal Dysplasia; FMD		Flna	MGI:95556	FLNA	Human only
314400	Cardiac Valvular Dysplasia, X-Linked; CVD1	Myxomatous Valvular Dystrophy, X-Linked; XMVD|Valvular Heart Disease, Congenital	Flna	MGI:95556	FLNA	Human only
300537	Heterotopia, Periventricular, Ehlers-Danlos Variant	Periventricular Nodular Heterotopia 4; PVNH4	Flna	MGI:95556	FLNA	Human only
108720	Atelosteogenesis, Type I; AOI	Giant Cell Chondrodysplasia|Spondylohumerofemoral Hypoplasia	Flnb	MGI:2446089	FLNB	Human only
108721	Atelosteogenesis, Type III; AOIII	Ao3	Flnb	MGI:2446089	FLNB	Human only
112310	Boomerang Dysplasia		Flnb	MGI:2446089	FLNB	Human only
150250	Larsen Syndrome; LRS		Flnb	MGI:2446089	FLNB	Human only
609524	Myopathy, Myofibrillar, 5; MFM5	Filaminopathy, Autosomal Dominant|Myopathy, Myofibrillar, Filamin C-Related	Flnc	MGI:95557	FLNC	Human only
601626	Leukemia, Acute Myeloid; AML		Flt3	MGI:95559	FLT3	Human only
602089	Hemangioma, Capillary Infantile	HCI|Hemangioma, Hereditary Capillary	Flt4	MGI:95561	FLT4	Human only
609033	Posterior Column Ataxia with Retinitis Pigmentosa; AXPC1	PCARP	Mfsd7b	MGI:2444881	FLVCR1	Human only
225790	Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome;	Encephaloclastic Proliferative Vasculopathy; EPV|Hydranencephaly, Fowler Type|Hydrocephaly/Hydranencephaly Due to Cerebral Vasculopathy|Pvhh	Mfsd7c	MGI:2384974	FLVCR2	Human only
602079	Trimethylaminuria; TMAU	Fish-Odor Syndrome	Fmo3	MGI:1100496	FMO3	Human only
311360	Premature Ovarian Failure 1; POF1	Hypergonadotropic Ovarian Failure, X-Linked|Ovarian Failure, Premature; POF|Premature Ovarian Failure, X-Linked; POFX	Fmr1	MGI:95564	FMR1	Human only
611630	Epilepsy, Familial Temporal Lobe, 3; ETL3	Epilepsy, Familial Mesial Temporal Lobe; FMTLE			FMTLE	Human only
601894	Glomerulopathy with Fibronectin Deposits 2; GFND2	Fibronectin Glomerulopathy|Glomerular Nephritis, Familial, with Fibronectin Deposits	Fn1	MGI:95566	FN1	Human only
613068	Neurodegeneration Due to Cerebral Folate Transport Deficiency		Folr1	MGI:95568	FOLR1	Human only
601631	Iridogoniodysgenesis, Type 1; IRID1		Foxc1	MGI:1347466	FOXC1	Human only
602482	Axenfeld-Rieger Syndrome, Type 3; RIEG3	Anterior Chamber Cleavage Syndrome|Anterior Segment Mesenchymal Dysgenesis|Axenfeld-Rieger Anomaly with or without Cardiac Defects and/or Sensorineural Hearing Loss	Foxc1	MGI:1347466	FOXC1	Human only
153200	Lymphedema, Hereditary, II	Lymphedema Praecox|Lymphedema, Late-Onset|Meige Disease|Meige Lymphedema	Foxc2	MGI:1347481	FOXC2	Human only
153300	Yellow Nail Syndrome	Lymphedema and Yellow Nails|Yns	Foxc2	MGI:1347481	FOXC2	Human only
607836	Autoimmune Disease, Susceptibility to, 1; AIS1	Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related|Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2; VAMAS2	Foxd3	MGI:1347473	FOXD3	Human only
610256	Aphakia, Congenital Primary		Foxe3	MGI:1353569	FOXE3	Human only
265380	Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins;	Acdmpv|Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and Other Congenital Anomalies|Pulmonary Hypertension, Familial Persistent, of the Newborn	Foxf1a	MGI:1347470	FOXF1	Human only
613454	Rett Syndrome, Congenital Variant		Foxg1	MGI:1347464	FOXG1	Human only
600791	Enlarged Vestibular Aqueduct; EVA	Deafness, Autosomal Recessive 4; DFNB4|Dilated Vestibular Aqueduct; DVA|Neurosensory Nonsyndromic Recessive Deafness 4; NSRD4	Foxi1	MGI:1096329	FOXI1	Human only
607154	Allergic Rhinitis	ALRH	Foxj1	MGI:1347474	FOXJ1	Human only
608996	Premature Ovarian Failure 3; POF3		Foxl2	MGI:1349428	FOXL2	Human only
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Foxo1	MGI:1890077	FOXO1	Human only
613670	Mental Retardation with Language Impairment and Autistic Features		Foxp1	MGI:1914004	FOXP1	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Foxp3	MGI:1891436	FOXP3	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Foxred1	MGI:2446262	FOXRED1	Human only
256000	Leigh Syndrome; LS		Foxred1	MGI:2446262	FOXRED1	Human only
604364	Epilepsy, Partial, with Variable Foci	FPEVF			FPEVF	Human only
145250	Hyperpigmentation, Familial Progressive, 2; FPH2	Fph|Hpp|Melanosis Universalis Hereditaria; MUH			FPH1	Human only
136630	Mental Retardation, Fra12a Type				FRA12A	Human only
136570	Chromosome 16p12.1 Deletion Syndrome, 520-Kb				FRA16A	Human only
136580	Fragile Site 16q22; FRA16A				FRA16B	Human only
229300	Friedreich Ataxia 1; FRDA	FRDA1			FRDA2	Human only
601992	Friedreich Ataxia 2	FRDA2			FRDA2	Human only
608980	Bifid Nose with or without Anorectal and Renal Anomalies; BNAR		Frem1	MGI:2670972	FREM1	Human only
310700	Nystagmus 1, Congenital, X-Linked; NYS1	Nystagmus 1, Infantile, X-Linked|Nystagmus, Congenital Motor, 1	Frmd7	MGI:2686379	FRMD7	Human only
134600	Fanconi Renotubular Syndrome 1; FRTS1	Adult Fanconi Syndrome|Fanconi Renotubular Syndrome; FRTS|Renal Fanconi Syndrome; RFS			FRTS	Human only
165720	Osteoarthritis Susceptibility 1; OS1	OA|Osteoarthritis of Hip, Female-Specific, Susceptibility to|Osteoarthrosis	Frzb	MGI:892032	FRZB	Human only
229070	Follicle-Stimulating Hormone Deficiency, Isolated		Fshb	MGI:95582	FSHB	Human only
158900	Facioscapulohumeral Muscular Dystrophy 1A; FSHMD1A	Facioscapulohumeral Muscular Dystrophy; FMD|Muscular Dystrophy, Facioscapulohumeral, Type 1; FSHD1|Muscular Dystrophy, Facioscapulohumeral, Type 1A; FSHD1A			FSHMD1A	Human only
158901	Facioscapulohumeral Muscular Dystrophy 1B; FSHMD1B	Muscular Dystrophy, Facioscapulohumeral, Type 2; FSHD2 MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; FSHD1B			FSHMD1B	Human only
233300	Ovarian Dysgenesis 1; ODG1	Gonadal Dysgenesis, XX Type|Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive|Ovarian Dysgenesis, Hypergonadotropic, with Normal Karyotype|Ovarian Failure, Hypergonadotropic|XX Gonadal Dysgenesis; XXGD	Fshr	MGI:95583	FSHR	Human only
608115	Ovarian Hyperstimulation Syndrome	OHSS|Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous	Fshr	MGI:95583	FSHR	Human only
606035	Fasting Insulin Level Quantitative Trait Locus 1; FIQTL1				FSI	Human only
184700	Polycystic Ovary Syndrome 1; PCOS1	Hyperandrogenemia|PCO1; PCO|PCOS|Stein-Leventhal Syndrome	Fst	MGI:95586	FST	Human only
229100	Formiminotransferase Deficiency	Figlu-Uria|Formiminoglutamic Aciduria|Glutamate Formiminotransferase Deficiency	Ftcd	MGI:1339962	FTCD	Human only
134770	Ferritin Heavy Chain 1; FTH1	FHC|FTH	Fth1	MGI:95588	FTH1	Human only
600886	Hyperferritinemia-Cataract Syndrome	Hyperferritinemia, Hereditary, with Congenital Cataracts	Ftl1	MGI:95589	FTL	Human only
606159	Neurodegeneration with Brain Iron Accumulation 3; NBIA3	Basal Ganglia Disease, Adult-Onset|Neuroferritinopathy	Ftl1	MGI:95589	FTL	Human only
601665	Obesity		Fto	MGI:1347093	FTO	Human only
612938	Growth Retardation, Developmental Delay, Coarse Facies, and Early Death; GDFD		Fto	MGI:1347093	FTO	Human only
309549	Mental Retardation, X-Linked 9; MRX9	Mental Retardation, X-Linked 44; MRX44	Ftsj1	MGI:1859648	FTSJ1	Human only
300331	Thrombocytosis, Familial X-Linked	Ftx	B230206F22Rik	MGI:1926128	FTX	Human only
230000	Fucosidosis	Alpha-L-Fucosidase Deficiency	Fuca1	MGI:95593	FUCA1	Human only
608030	Amyotrophic Lateral Sclerosis 6, with or without Frontotemporal Dementia;		Fus	MGI:1353633	FUS	Human only
182100	Fucosyltransferase 2; FUT2		Fut2	MGI:109374	FUT2	Human only
612542	Vitamin B12 Plasma Level Quantitative Trait Locus 1; B12QTL1		Fut2	MGI:109374	FUT2	Human only
613606	Forsythe-Wakeling Syndrome; FWS	Microcephaly and Growth Retardation with Childhood-Onset Nephrotic Syndrome and Thrombocytopenia			FWS	Human only
154020	Hypomagnesemia 2, Renal; HOMG2	Magnesium Loss, Isolated Renal|Magnesium Wasting, Renal	Fxyd2	MGI:1195260	FXYD2	Human only
133780	Exudative Vitreoretinopathy 1; EVR1	Exudative Vitreoretinopathy, Familial, Autosomal Dominant|Fevr, Autosomal Dominant	Fzd4	MGI:108520	FZD4	Human only
612541	Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4		G6pc3	MGI:1915651	G6PC3	Human only
138110	Glucose-6-Phosphate Dehydrogenase-Like; G6PDL				G6PDL	Human only
188890	Tobacco Addiction, Susceptibility to	Cigarette Habituation, Susceptibility to|Nicotine Addiction, Susceptibility to|Nicotine Dependence, Susceptibility to|Smoking Habit, Susceptibility to	Gabbr2	MGI:2386030	GABBR2	Human only
254770	Epilepsy, Myoclonic Juvenile; EJM	Myoclonic Epilepsy, Juvenile; JME|Petit Mal, Impulsive	Gabra1	MGI:95613	GABRA1	Human only
611136	Epilepsy, Juvenile Myoclonic, Susceptibility to, 5; EJM5		Gabra1	MGI:95613	GABRA1	Human only
103780	Alcohol Dependence	Alcoholism	Gabra2	MGI:95614	GABRA2	Human only
612269	Epilepsy, Childhood Absence, Susceptibility to, 5; ECA5		Gabrb3	MGI:95621	GABRB3	Human only
137192	Gamma-Aminobutyric Acid Receptor, Beta-3; GABRB3		Gabrb3	MGI:95621	GABRB3	Human only
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Gabrd	MGI:95622	GABRD	Human only
613060	Epilepsy, Idiopathic Generalized, Susceptibility to, 10; EIG10		Gabrd	MGI:95622	GABRD	Human only
604233	Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1	Gefs+, Type 1; GEFS+1	Gabrg2	MGI:95623	GABRG2	Human only
607208	Dravet Syndrome	Epileptic Encephalopathy, Early Infantile, 6; EIEE6|Severe Myoclonic Epilepsy of Infancy; SMEI	Gabrg2	MGI:95623	GABRG2	Human only
607681	Epilepsy, Childhood Absence, Susceptibility to, 2; ECA2		Gabrg2	MGI:95623	GABRG2	Human only
611277	Generalized Epilepsy with Febrile Seizures Plus, Type 3; GEFSP3		Gabrg2	MGI:95623	GABRG2	Human only
603513	Cerebral Palsy, Spastic Quadriplegic, 1; CPSQ1		Gad1	MGI:95632	GAD1	Human only
230350	Galactose Epimerase Deficiency	Galactosemia III|GALE Deficiency|UDP-Galactose-4-Epimerase Deficiency	Gale	MGI:1921496	GALE	Human only
230200	Galactokinase Deficiency	Galactosemia II|GALK Deficiency	Galk1	MGI:95730	GALK1	Human only
608812	Colorectal Cancer, Susceptibility to, 1; CRCS1	Colorectal Adenoma and Cancer, Susceptibility to|Colorectal Cancer, Susceptibility to, on Chromosome 9	Galnt12	MGI:2444664	GALNT12	Human only
230400	Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency|Galactosemia, Classic Galactosemia, Duarte Variant|GALT Deficiency	Galt	MGI:95638	GALT	Human only
600794	Neuronopathy, Distal Hereditary Motor, Type V; HMN5	Dhmn V|Dhmn5|HMN V|Neuropathy, Distal Hereditary Motor, Type V|Spinal Muscular Atrophy, Distal, Type V; DSMAV|Spinal Muscular Atrophy, Distal, with Upper Limb Predominance	Gars	MGI:2449057	GARS	Human only
190685	Down Syndrome		Gata1	MGI:95661	GATA1	Human only
300367	Dyserythropoietic Anemia with Thrombocytopenia		Gata1	MGI:95661	GATA1	Human only
314050	Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	Thrombocytopenia with Beta-Thalassemia, X-Linked; XLTT	Gata1	MGI:95661	GATA1	Human only
607941	Atrial Septal Defect 2; ASD2		Gata4	MGI:95664	GATA4	Human only
612718	Arginine:glycine Amidinotransferase Deficiency	Agat Deficiency|Creatine Deficiency Syndrome Due to Agat Deficiency|Gatm Deficiency	Gatm	MGI:1914342	GATM	Human only
231005	Gaucher Disease, Type IIIC		Gba	MGI:95665	GBA	Human only
608013	Gaucher Disease, Perinatal Lethal	Gaucher Disease, Collodion Type	Gba	MGI:95665	GBA	Human only
139200	Group-Specific Component; GC	Vitamin D-Binding Protein; DBP; VDBP	Gc	MGI:95669	GC	Human only
275000	Graves Disease	GRD|Thyrotoxicosis	Gc	MGI:95669	GC	Human only
607398	Glucocorticoid Deficiency 2; GCCD2	Familial Glucocorticoid Deficiency 2; FGD2			GCCD2	Human only
231670	Glutaric Acidemia I	GA I|Glutaric Aciduria I|Glutaryl-Coa Dehydrogenase Deficiency	Gcdh	MGI:104541	GCDH	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Gcgr	MGI:99572	GCGR	Human only
128230	Dystonia, Dopa-Responsive; DRD	Dopa-Responsive Dystonia, Autosomal Dominant|Dystonia 5; DYT5|Dystonia, Dopa-Responsive, Autosomal Dominant|Dystonia, Progressive, with Diurnal Variation|Dystonia-Parkinsonism with Diurnal Fluctuation|Segawa Syndrome, Autosomal Dominant	Gch1	MGI:95675	GCH1	Human only
233910	Hyperphenylalaninemia, Bh4-Deficient, B; HPABH4B	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase I Deficiency	Gch1	MGI:95675	GCH1	Human only
602485	Hyperinsulinemic Hypoglycemia, Familial, 3; HHF3		Gck	MGI:1270854	GCK	Human only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Gck	MGI:1270854	GCK	Human only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Gck	MGI:1270854	GCK	Human only
613463	Fasting Plasma Glucose Level Quantitative Trait Locus 5; FGQTL5		Gckr	MGI:1096345	GCKR	Human only
230450	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to		Gclc	MGI:104990	GCLC	Human only
608446	Myocardial Infarction, Susceptibility to		Gclc	MGI:104990	GCLC	Human only
212500	Cataract, Congenital or Juvenile		Gcnt2	MGI:1100870	GCNT2	Human only
605899	Glycine Encephalopathy; GCE		Gcsh	MGI:1915383	GCSH	Human only
214400	Charcot-Marie-Tooth Disease, Type 4A; CMT4A	Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive|Charcot-Marie-Tooth Neuropathy, Type 4a	Gdap1	MGI:1338002	GDAP1	Human only
607706	Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive	Charcot-Marie-Tooth Disease, Type 4A, Axonal Form|Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive|CMT2 with Vocal Cord Paresis, Autosomal Recessive	Gdap1	MGI:1338002	GDAP1	Human only
607831	Charcot-Marie-Tooth Disease, Axonal, Type 2K; CMT2K	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2K	Gdap1	MGI:1338002	GDAP1	Human only
608340	Charcot-Marie-Tooth Disease, Recessive Intermediate A; CMTRIA	Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A|RI-CMTA	Gdap1	MGI:1338002	GDAP1	Human only
609918	Gallbladder Disease 2	Gbd2			GDB2	Human only
609919	Gallbladder Disease 3	Gbd3			GDB3	Human only
187500	Tetralogy of Fallot; TOF		Gdf1	MGI:95683	GDF1	Human only
217095	Conotruncal Heart Malformations; CTHM		Gdf1	MGI:95683	GDF1	Human only
613702	Klippel-Feil Syndrome 3, Autosomal Dominant; KFS3		Gdf3	MGI:95686	GDF3	Human only
613703	Microphthalmia, Isolated, with Coloboma 6; MCOPCB6		Gdf3	MGI:95686	GDF3	Human only
613704	Microphthalmia, Isolated 7; MCOP7		Gdf3	MGI:95686	GDF3	Human only
112600	Brachydactyly, Type A2; BDA2	Brachymesophalangy II|Mohr-Wriedt Type Brachydactyly	Gdf5	MGI:95688	GDF5	Human only
113100	Brachydactyly, Type C; BDC	Brachydactyly, Haws Type	Gdf5	MGI:95688	GDF5	Human only
185800	Symphalangism, Proximal; SYM1	Cushing Symphalangism|Hereditary Absence of the Proximal Interphalangeal Joints	Gdf5	MGI:95688	GDF5	Human only
200700	Chondrodysplasia, Grebe Type	Achondrogenesis, Brazilian|Achondrogenesis, Type II, Formerly|Acromesomelic Dysplasia, Grebe Type; AMDG|Grebe Chondrodysplasia|Grebe Dysplasia	Gdf5	MGI:95688	GDF5	Human only
201250	Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelic Dwarfism|AMDH	Gdf5	MGI:95688	GDF5	Human only
228900	Fibular Hypoplasia and Complex Brachydactyly	Du Pan Syndrome	Gdf5	MGI:95688	GDF5	Human only
610017	Multiple Synostoses Syndrome 2; SYNS2		Gdf5	MGI:95688	GDF5	Human only
612400	Osteoarthritis Susceptibility 5; OS5	Osteoarthritis of Hip	Gdf5	MGI:95688	GDF5	Human only
118100	Klippel-Feil Syndrome 1, Autosomal Dominant; KFS1	Cervical Vertebral Fusion, Autosomal Dominant|Kfs	Gdf6	MGI:95689	GDF6	Human only
120200	Coloboma, Ocular	Coloboma of Iris, Choroid, and Retina; COI|Coloboma, Uveoretinal	Gdf6	MGI:95689	GDF6	Human only
122600	Spondylocostal Dysostosis 5, Autosomal Dominant	Spondylocostal Dysplasia, Dominant Form|Spondylothoracic Dysostosis, Autosomal Dominant	Gdf6	MGI:95689	GDF6	Human only
613094	Microphthalmia, Isolated 4; MCOP4		Gdf6	MGI:95689	GDF6	Human only
613703	Microphthalmia, Isolated, with Coloboma 6; MCOPCB6		Gdf6	MGI:95689	GDF6	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Gdnf	MGI:107430	GDNF	Human only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Gdnf	MGI:107430	GDNF	Human only
613711	Hirschsprung Disease, Susceptibility to, 3; HSCR3		Gdnf	MGI:107430	GDNF	Human only
233420	46,xy Sex Reversal 7; SRXY7	46,xy Gonadal Dysgenesis, Complete or Partial, Dhh-Related|46,xy Sex Reversal, Partial or Complete, Dhh-Related|Gonadal Dysgenesis, Xy, Male-Limited; GDXYM			GDXYM	Human only
609800	Generalized Epilepsy with Febrile Seizures Plus, Type 4; GEFSP4	Gefs+, Type 4; GEFS+4			GEFSP4	Human only
612279	Generalized Epilepsy with Febrile Seizures Plus, Type 6; GEFSP6	Gefs+, Type 6; GEFS+6			GEFSP6	Human only
109350	Gastroesophageal Reflux; GER	Gastroesophageal Reflux Disease; GERD|Gastroesophageal Reflux, Pediatric			GER	Human only
613076	Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay	Mitochondrial Complex Deficiency, Combined|Myopathy with Cataract and Combined Respiratory Chain Deficiency	Gfer	MGI:107757	GFER	Human only
202700	Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1		Gfi1	MGI:103170	GFI1	Human only
607847	Neutropenia, Nonimmune Chronic Idiopathic, of Adults	NI-CINA|Nonimmune Chronic Idiopathic Neutropenia of Adults	Gfi1	MGI:103170	GFI1	Human only
613107	Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2		Gfi1	MGI:103170	GFI1	Human only
609060	Combined Oxidative Phosphorylation Deficiency 1; COXPD1	Hepatoencephalopathy, Early Fatal Progressive	Gfm1	MGI:107339	GFM1	Human only
277450	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1; VKCFD1	Factors II, VII, IX, and X, Combined Deficiency of|Familial Multiple Coagulation Factor Deficiency III|FMFD III|Glutamic Acid, Deficient Gamma-Carboxylation of|Multiple Coagulation Factor Deficiency III; MCFD3|Vitamin K-Dependent Coagulation Defect|Vkcfd	Ggcx	MGI:1927655	GGCX	Human only
610842	Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency	Pxe-Like Disorder with Multiple Coagulation Factor Deficiency	Ggcx	MGI:1927655	GGCX	Human only
612365	Gamma Glutamyltransferase, Plasma Level of, Quantitative Trait Locus 1	Ggtqtl1	Ggt1	MGI:95706	GGT1	Human only
612366	Gamma Glutamyltransferase, Plasma Level of, Quantitative Trait Locus 2	Ggtqtl2	Ggt1	MGI:95706	GGT1	Human only
262400	Isolated Growth Hormone Deficiency, Type IA; IGHD1A	Growth Hormone Deficiency, Isolated, Autosomal Recessive|Ighd IA|Illig-Type Growth Hormone Deficiency|Pituitary Dwarfism I|Primordial Dwarfism|Sexual Ateleiotic Dwarfism	Gh	MGI:95707	GH1	Human only
262650	Kowarski Syndrome	Biodefective Growth Hormone|Pituitary Dwarfism with Normal Immunoreactive Growth Hormone and Low Somatomedin	Gh	MGI:95707	GH1	Human only
604271	Short Stature, Idiopathic, Autosomal	Growth Hormone Deficiency, Isolated, Partial; PARTIAL IGHD|Growth Hormone, Insensitivity to, Partial	Gh	MGI:95707	GH1	Human only
612781	Isolated Growth Hormone Deficiency, Type IB; IGHD1B	Dwarfism of Sindh|Ighd IB	Gh	MGI:95707	GH1	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Ghr	MGI:95708	GHR	Human only
604271	Short Stature, Idiopathic, Autosomal	Growth Hormone Deficiency, Isolated, Partial; PARTIAL IGHD|Growth Hormone, Insensitivity to, Partial	Ghr	MGI:95708	GHR	Human only
612781	Isolated Growth Hormone Deficiency, Type IB; IGHD1B	Dwarfism of Sindh|Ighd IB	Ghrhr	MGI:95710	GHRHR	Human only
601665	Obesity		Ghrl	MGI:1930008	GHRL	Human only
141400	Hemifacial Microsomia with Radial Defects	Goldenhar Syndrome with Ipsilateral Radial Defect|Oavs with Radial Defect|Oculoauriculovertebral Spectrum with Radial Defect			GHS	Human only
604271	Short Stature, Idiopathic, Autosomal	Growth Hormone Deficiency, Isolated, Partial; PARTIAL IGHD|Growth Hormone, Insensitivity to, Partial	Ghsr	MGI:2441906	GHSR	Human only
261000	Intrinsic Factor Deficiency; IFD	Pernicious Anemia, Congenital, Due to Defect of Intrinsic Factor	Gif	MGI:1202394	GIF	Human only
607688	Parkinson Disease 11, Autosomal Dominant; PARK11		Gigyf2	MGI:2138584	GIGYF2	Human only
135300	Fibromatosis, Gingival, 1; GINGF1	Fibromatosis, Gingival, Hereditary; HGF|Ggf1|Gingf			GINGF2	Human only
605544	Fibromatosis, Gingival, 2; GINGF2	Fibromatosis, Gingival, Hereditary, 2; HGF2|GGF2			GINGF2	Human only
609955	Fibromatosis, Gingival, 3; GINGF3	Fibromatosis, Gingival, Hereditary, 3; HGF3|Ggf3			GINGF3	Human only
611010	Fibromatosis, Gingival, 4; GINGF4	Fibromatosis, Gingival, Hereditary, 4; HGF4|Ggf4			GINGF4	Human only
137241	Gastric Inhibitory Polypeptide Receptor; GIPR		Gipr	MGI:1352753	GIPR	Human only
186100	Syndactyly, Type III	Ring and Little Finger Syndactyly|SDTY3|Syndactyly of Fingers IV and V	Gja1	MGI:95713	GJA1	Human only
234100	Hallermann-Streiff Syndrome; HSS	Francois Dyscephalic Syndrome	Gja1	MGI:95713	GJA1	Human only
241550	Hypoplastic Left Heart Syndrome 1; HLHS1	Hlhs	Gja1	MGI:95713	GJA1	Human only
257850	Oculodentodigital Dysplasia, Autosomal Recessive	Oculodentoosseous Dysplasia, Autosomal Recessive|Oddd, Autosomal Recessive|Odod, Autosomal Recessive	Gja1	MGI:95713	GJA1	Human only
600309	Atrioventricular Septal Defect 3; AVSD3		Gja1	MGI:95713	GJA1	Human only
601885	Cataract, Zonular Pulverulent 3; CZP3	CAE3	Gja3	MGI:95714	GJA3	Human only
108770	Atrial Standstill	Atrial Cardiomyopathy with Heart Block|Cardiomyopathy, Familial, with Conduction Disturbance	Gja5	MGI:95716	GJA5	Human only
608583	Atrial Fibrillation, Familial, 1; ATFB1	Atrial Fibrillation, Autosomal Dominant	Gja5	MGI:95716	GJA5	Human only
116150	Cataract-Microcornea Syndrome	Microcornea-Cataract Syndrome	Gja8	MGI:99953	GJA8	Human only
600897	Gap Junction Protein, Alpha-8; GJA8	Connexin 50; CX50|Gap Junction Protein, 50-Kd	Gja8	MGI:99953	GJA8	Human only
124500	Deafness, Congenital, with Keratopachydermia and Constrictions of Fingers and Toes	Keratoderma Hereditarium Mutilans; KHM|Mutilating Keratoderma|Vohwinkel Syndrome	Gjb2	MGI:95720	GJB2	Human only
148350	Keratoderma, Palmoplantar, with Deafness		Gjb2	MGI:95720	GJB2	Human only
149200	Knuckle Pads, Leukonychia, and Sensorineural Deafness	Bart-Pumphrey Syndrome	Gjb2	MGI:95720	GJB2	Human only
601544	Deafness, Autosomal Dominant 3A; DFNA3A		Gjb2	MGI:95720	GJB2	Human only
602540	Ichthyosis, Hystrix-Like, with Deafness	HID Syndrome	Gjb2	MGI:95720	GJB2	Human only
220290	Deafness, Autosomal Recessive 1A; DFNB1A		Gjb3	MGI:95721	GJB3	Human only
600101	Deafness, Autosomal Dominant 2A; DFNA2A		Gjb3	MGI:95721	GJB3	Human only
603324	Gap Junction Protein, Beta-3; GJB3	Gap Junction Protein, 31-kD	Gjb3	MGI:95721	GJB3	Human only
612644	Deafness, Autosomal Dominant 2B; DFNA2B		Gjb3	MGI:95721	GJB3	Human only
133200	Erythrokeratodermia Variabilis Et Progressiva; EKVP	Erythrokeratodermia Figurata, Congenital Familial, in Plaques|Erythrokeratodermia Variabilis; EKV|Erythrokeratodermia, Progressive Symmetric; PSEK	Gjb4	MGI:95722	GJB4	Human only
129500	Ectodermal Dysplasia, Hidrotic, Autosomal Dominant	Clouston Hidrotic Ectodermal Dysplasia|Clouston Syndrome|Ectodermal Dysplasia, Hidrotic	Gjb6	MGI:107588	GJB6	Human only
601544	Deafness, Autosomal Dominant 3A; DFNA3A		Gjb6	MGI:107588	GJB6	Human only
612643	Deafness, Autosomal Dominant 3b; DFNA3B		Gjb6	MGI:107588	GJB6	Human only
612645	Deafness, Autosomal Recessive 1B; DFNB1B		Gjb6	MGI:107588	GJB6	Human only
613206	Spastic Paraplegia 44, Autosomal Recessive; SPG44		Gjc2	MGI:2153060	GJC2	Human only
613480	Lymphedema, Hereditary, IC	Lmph1c	Gjc2	MGI:2153060	GJC2	Human only
230500	Gm1-Gangliosidosis, Type I	Beta-Galactosidase-1 Deficiency|Gangliosidosis, Generalized Gm1, Infantile Form|Gangliosidosis, Generalized Gm1, Type 1|Gangliosidosis, Generalized Gm1, Type I	Glb1	MGI:88151	GLB1	Human only
230650	Gm1-Gangliosidosis, Type III	Gangliosidosis, Generalized Gm1, Adult Type|Gangliosidosis, Generalized Gm1, Chronic Type|Gangliosidosis, Generalized Gm1, Type 3|Gangliosidosis, Generalized Gm1, Type III	Glb1	MGI:88151	GLB1	Human only
253010	Mucopolysaccharidosis Type IVB	Morquio Syndrome B|MPS IVB; MPS4B	Glb1	MGI:88151	GLB1	Human only
137760	Glaucoma, Primary Open Angle; POAG				GLC1B	Human only
606689	Glaucoma 1, Open Angle, B; GLC1B				GLC1B	Human only
601682	Glaucoma 1, Open Angle, C; GLC1C				GLC1C	Human only
602429	Glaucoma 1, Open Angle, D; GLC1D	Glaucoma, Primary Open Angle, Adult-Onset			GLC1D	Human only
603383	Glaucoma 1, Open Angle, F; GLC1F	Glaucoma, Primary Open Angle, Adult-Onset			GLC1F	Human only
611276	Glaucoma 1, Open Angle, H; GLC1H				GLC1H	Human only
609745	Glaucoma 1, Open Angle, I; GLC1I				GLC1I	Human only
608695	Glaucoma 1, Open Angle, J; GLC1J	Glaucoma, Primary Open Angle, Juvenile-Onset, 2; JOAG2			GLC1J	Human only
608696	Glaucoma 1, Open Angle, K; GLC1K	Glaucoma, Primary Open Angle, Juvenile-Onset, 3; JOAG3			GLC1K	Human only
610535	Glaucoma 1, Open Angle, M; GLC1M				GLC1M	Human only
611274	Glaucoma 1, Open Angle, N; GLC1N				GLC1N	Human only
600975	Glaucoma 3, Primary Infantile, B; GLC3B	Glaucoma, Primary Congenital, Type B|GLC3, Type B			GLC3B	Human only
613085	Glaucoma 3, Primary Congenital, C; GLC3C				GLC3C	Human only
605899	Glycine Encephalopathy; GCE		Gldc	MGI:1341155	GLDC	Human only
253310	Lethal Congenital Contracture Syndrome 1; LCCS1	LCCS|Multiple Contracture Syndrome, Finnish Type	Gle1	MGI:1921662	GLE1	Human only
611890	Lethal Arthrogryposis with Anterior Horn Cell Disease; LAAHD		Gle1	MGI:1921662	GLE1	Human only
610829	Holoprosencephaly 9; HPE9	Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies|Pituitary Anomalies with Holoprosencephaly-Like Features	Gli2	MGI:95728	GLI2	Human only
174200	Polydactyly, Postaxial, Type A1	PAPA1|Postaxial Polydactyly, Type A; PAPA	Gli3	MGI:95729	GLI3	Human only
174700	Polydactyly, Preaxial IV		Gli3	MGI:95729	GLI3	Human only
200990	Acrocallosal Syndrome; ACLS	Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum	Gli3	MGI:95729	GLI3	Human only
241800	Hypothalamic Hamartomas		Gli3	MGI:95729	GLI3	Human only
137800	Glioma Susceptibility 1; GLM1				GLM1	Human only
607248	Glioma Susceptibility 4; GLM4				GLM1	Human only
613030	Glioma Susceptibility 5; GLM5				GLM5	Human only
613031	Glioma Susceptibility 6; GLM6				GLM6	Human only
613033	Glioma Susceptibility 8; GLM8				GLM8	Human only
138000	Glomuvenous Malformations; GVM	Glomangiomas, Multiple|Glomus Tumors, Multiple|Venous Malformations with Glomus Cells; VMGLOM	Glmn	MGI:2141180	GLMN	Human only
209850	Autism		Glo1	MGI:95742	GLO1	Human only
205950	Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive		Glrx5	MGI:1920296	GLRX5	Human only
606762	Hyperinsulinemic Hypoglycemia, Familial, 6; HHF6	Hyperinsulinism-Hyperammonemia Syndrome	Glud1	MGI:95753	GLUD1	Human only
610015	Glutamine Deficiency, Congenital	Glutamine Synthase Deficiency, Congenital Systemic	Glul	MGI:95739	GLUL	Human only
233100	Renal Glucosuria; GLYS1	Glycosuria, Renal			GLYS1	Human only
601626	Leukemia, Acute Myeloid; AML		Gmps	MGI:2448526	GMPS	Human only
192605	Ventricular Tachycardia, Familial	Ventricular Tachycardia, Familial Polymorphic	Gnai2	MGI:95772	GNAI2	Human only
102200	Pituitary Adenoma, Growth Hormone-Secreting	Isolated Familial Somatotropinoma; IFS|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated; FIS	Gnas	MGI:95777	GNAS	Human only
139320	GNAS Complex Locus; GNAS		Gnas	MGI:95777	GNAS	Human only
166350	Osseous Heteroplasia, Progressive; POH	Ectopic Ossification, Familial|Osteoma Cutis	Gnas	MGI:95777	GNAS	Human only
174800	McCune-Albright Syndrome; MAS		Gnas	MGI:95777	GNAS	Human only
219090	Pituitary Adenoma, Acth-Secreting	Cushing Disease, Pituitary	Gnas	MGI:95777	GNAS	Human only
603233	Pseudohypoparathyroidism, Type IB; PHP1B	PHP IB	Gnas	MGI:95777	GNAS	Human only
612462	Pseudohypoparathyroidism, Type Ic; PHP1C	Php IC	Gnas	MGI:95777	GNAS	Human only
603233	Pseudohypoparathyroidism, Type IB; PHP1B	PHP IB	Nespas	MGI:1861674	GNAS-AS1	Human only
610444	Night Blindness, Congenital Stationary, Autosomal Dominant 3; CSNBAD3	Night Blindness, Congenital Stationary, Nougaret Type	Gnat1	MGI:95778	GNAT1	Human only
145500	Hypertension, Essential	EHT	Gnb3	MGI:95785	GNB3	Human only
269921	Sialuria	Sialuria, French Type	Gne	MGI:1354951	GNE	Human only
600737	Inclusion Body Myopathy 2, Autosomal Recessive; IBM2	Inclusion Body Myopathy, Autosomal Recessive|Inclusion Body Myopathy, Quadriceps-Sparing; QSM	Gne	MGI:1354951	GNE	Human only
252600	Mucolipidosis III Alpha/Beta	ML III|Ml III Alpha/Beta|Mucolipidosis III|Mucolipidosis IIIA; ML IIIA	Gnptab	MGI:3643902	GNPTAB	Human only
252605	Mucolipidosis III Gamma	Ml III Gamma|ML IIIC|Mucolipidosis III, Complementation Group C|Mucolipidosis III, Iranian Variant Form|Mucolipidosis III, Variant Form|Mucolipidosis IIIC	Gnptg	MGI:2147006	GNPTG	Human only
228300	Fertile Eunuch Syndrome		Gnrhr	MGI:95790	GNRHR	Human only
252940	Mucopolysaccharidosis Type IIID	MPS IIID|N-Acetylglucosamine-6-Sulfatase Deficiency|Sanfilippo Syndrome D	Gns	MGI:1922862	GNS	Human only
610839	Osteoarthritis Susceptibility 4; OS4	Osteoarthritis, Generalized, without Dysplasia; GOA1			GOA1	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Golga5	MGI:1351475	GOLGA5	Human only
231070	Geroderma Osteodysplasticum; GO	Gerodermia Osteodysplastica|Walt Disney Dwarfism	Gorab	MGI:2138271	GORAB	Human only
138900	Uric Acid Concentration, Serum, Quantitative Trait Locus 1; UAQTL1	Gout Susceptibility 1|Gout1			GOUT1	Human only
153670	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant; BSSA2		Gp1ba	MGI:1333744	GP1BA	Human only
177820	Pseudo-Von Willebrand Disease; VWDP	Bleeding Disorder, Platelet-Type, 3; BDPLT3|Von Willebrand Disease, Platelet-Type	Gp1ba	MGI:1333744	GP1BA	Human only
258660	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to	Naion, Susceptibility to|Optic Neuropathy, Anterior Ischemic, Susceptibility to	Gp1ba	MGI:1333744	GP1BA	Human only
231200	Bernard-Soulier Syndrome; BSS	Bleeding Disorder, Platelet-Type, 1; BDPLT1|Glycoprotein Ib, Platelet, Deficiency of|Platelet Glycoprotein IB Deficiency	Gp9	MGI:1860137	GP9	Human only
194070	Wilms Tumor 1; WT1	Nephroblastoma	Gpc3	MGI:104903	GPC3	Human only
258315	Omodysplasia 1; OMOD1	Micromelic Dysplasia, Congenital, with Dislocation of Radius|Omodysplasia, Autosomal Recessive|Omodysplasia, Generalized Form	Gpc6	MGI:1346322	GPC6	Human only
611777	Brugada Syndrome 2; BRGDA2		Gpd1l	MGI:1289257	GPD1L	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Gpd2	MGI:99778	GPD2	Human only
600510	Glaucoma-Related Pigment Dispersion Syndrome; GPDS1	Glaucoma, Pigment-Dispersion Type|Pigment Dispersion Syndrome; PDS			GPDS1	Human only
149400	Hyperekplexia, Hereditary	Exaggerated Startle Reaction|Hyperexplexia, Hereditary|Kok Disease|Startle Disease, Familial|Startle Reaction, Exaggerated|STHE|Stiff-Baby Syndrome|Stiff-Man Syndrome, Congenital|Stiff-Person Syndrome, Congenital	Gphn	MGI:109602	GPHN	Human only
300814	Nystagmus 6, Congenital, X-Linked; NYS6		Gpr143	MGI:107193	GPR143	Human only
606854	Polymicrogyria, Bilateral Frontoparietal	BFPP|Cerebellar Ataxia with Neuronal Migration Defect	Gpr56	MGI:1340051	GPR56	Human only
604352	Febrile Seizures, Familial, 4; FEB4	Convulsions, Familial Febrile, 4	Gpr98	MGI:1274784	GPR98	Human only
221820	Gliosis, Familial Progressive Subcortical	Dementia, Familial, Neumann Type|GPSC			GPSC	Human only
613557	Deafness, Autosomal Recessive 82; DFNB82		Gpsm2	MGI:1923373	GPSM2	Human only
275000	Graves Disease	GRD|Thyrotoxicosis			GRD1	Human only
275000	Graves Disease	GRD|Thyrotoxicosis			GRD2	Human only
603388	Graves Disease, Susceptibility to, 2	GRD2			GRD2	Human only
275000	Graves Disease	GRD|Thyrotoxicosis			GRDX	Human only
300351	Graves Disease, Susceptibility to, X-Linked 1				GRDX	Human only
608641	Deafness, Autosomal Dominant 28; DFNA28		Grhl2	MGI:2182543	GRHL2	Human only
260000	Hyperoxaluria, Primary, Type II	D-Glycerate Dehydrogenase Deficiency|Glyceric Aciduria|Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency|HP2|Oxalosis II	Grhpr	MGI:1923488	GRHPR	Human only
300699	Mental Retardation, X-Linked, Syndromic, Wu Type; MRXSW	Mental Retardation, X-Linked 94; MRX94|Mental Retardation, X-Linked, Syndromic 29; MRXS29	Gria3	MGI:95810	GRIA3	Human only
611092	Mental Retardation, Autosomal Recessive 6; MRT6		Grik2	MGI:95815	GRIK2	Human only
258100	Oguchi Disease 1	Night Blindness, Congenital Stationary, Oguchi Type 1	Grk1	MGI:1345146	GRK1	Human only
257270	Night Blindness, Congenital Stationary, Type 1B; CSNB1B	Csnb, Complete, Autosomal Recessive|Night Blindness, Congenital Stationary, Complete, Autosomal Recessive	Grm6	MGI:1351343	GRM6	Human only
607485	Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related	Frontotemporal Dementia with Tdp43 Inclusions, Grn-Related|Frontotemporal Dementia, Ubiquitin-Positive; FTDU|Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions; FTLDU|Ftld-Tdp, Grn-Related	Grn	MGI:95832	GRN	Human only
613285	Deafness, Autosomal Recessive 25; DFNB25		Grxcr1	MGI:3577767	GRXCR1	Human only
190100	Geniospasm 1; GSM1	Trembling Chin			GSM1	Human only
105120	Amyloidosis, Finnish Type	Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy|Amyloidosis V|Amyloidosis, Meretoja Type	Gsn	MGI:95851	GSN	Human only
138300	Glutathione Reductase; GSR		Gsr	MGI:95804	GSR	Human only
231900	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to		Gss	MGI:95852	GSS	Human only
266130	Glutathione Synthetase Deficiency	5-oxoprolinuria|Pyroglutamic Aciduria	Gss	MGI:95852	GSS	Human only
601675	Trichothiodystrophy, Photosensitive; TTDP		Gtf2h5	MGI:107227	GTF2H5	Human only
137580	Gilles De La Tourette Syndrome; GTS	Tourette Syndrome; TS			GTS	Human only
600977	Cone-Rod Dystrophy 5; CORD5		Gucy2e	MGI:105123	GUCY2D	Human only
601138	Guanylate Cyclase 2E; GUCY2E	GC-E|Guanylyl Cyclase, Membrane, Type E; GUCY2E|Gucy2d, Mouse, Homolog of	Gucy2d	MGI:106030	GUCY2E	Human only
240400	Hypoascorbemia	Scurvy	Gulo	MGI:1353434	GULOP	Human only
309555	Mental Retardation with Optic Atrophy, Deafness, and Seizures	Gustavson Syndrome; GUST			GUST	Human only
613507	Glycogen Storage Disease Xv; GSD15	Glycogenin Deficiency|Gsd Xv|Gyg1 Deficiency	Gyg	MGI:1351614	GYG1	Human only
611162	Malaria, Susceptibility to				GYPA	Human only
611162	Malaria, Susceptibility to		Gypc	MGI:1098566	GYPC	Human only
611556	Glycogen Storage Disease 0, Muscle	Gsd 0b; GSD0B|Muscle Glycogen Storage Disease 0|Muscle Glycogen Synthase Deficiency	Gys1	MGI:101805	GYS1	Human only
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	H19	MGI:95891	H19	Human only
180860	Silver-Russell Syndrome; SRS	Russell-Silver Syndrome; RSS|Silver-Russell Dwarfism	H19	MGI:95891	H19	Human only
194071	Wilms Tumor 2; WT2		H19	MGI:95891	H19	Human only
604931	Cortisone Reductase Deficiency	11-beta-Hydroxysteroid Dehydrogenase, Type I, Deficiency of|HSD11B1 Deficiency	H6pd	MGI:2140356	H6PD	Human only
188050	Thrombosis, Susceptibility to		Habp2	MGI:1196378	HABP2	Human only
231530	3-hydroxyacyl-Coa Dehydrogenase Deficiency	Hadh Deficiency|Schad Deficiency, Formerly	Hadh	MGI:96009	HADH	Human only
609975	Hyperinsulinemic Hypoglycemia, Familial, 4; HHF4		Hadh	MGI:96009	HADH	Human only
609015	Trifunctional Protein Deficiency		Hadha	MGI:2135593	HADHA	Human only
609016	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	LCHAD Deficiency	Hadha	MGI:2135593	HADHA	Human only
235800	Histidinemia	HAL Deficiency|HIS Deficiency|Histidase Deficiency|Histidine Ammonia-Lyase Deficiency	Hal	MGI:96010	HAL	Human only
602390	Hemochromatosis, Type 2A; HFE2A		Hamp	MGI:1933533	HAMP	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Havcr1	MGI:2159680	HAVCR1	Human only
610738	Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3	Agranulocytosis, Infantile|Kostmann Disease	Hax1	MGI:1346319	HAX1	Human only
140700	Heinz Body Anemias		Hba-a2	MGI:96016	HBA1	Human only
141800	Hemoglobin--Alpha Locus 1; HBA1	3-Prime Alpha-Globin Gene	Hba-a2	MGI:96016	HBA1	Human only
604131	Alpha-Thalassemia		Hba-a2	MGI:96016	HBA1	Human only
140700	Heinz Body Anemias		Hba-a1	MGI:96015	HBA2	Human only
604131	Alpha-Thalassemia		Hba-a1	MGI:96015	HBA2	Human only
140700	Heinz Body Anemias		Hbb	MGI:96020	HBB	Human only
604131	Alpha-Thalassemia		Hbb	MGI:96020	HBB	Human only
146350	Hypophosphatemic Bone Disease; HBD		Hbb-bh2	MGI:96025	HBD	Human only
141750	Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type|Atr, Deletion-Type|ATR-16 Syndrome|Chromosome 16p Deletion Syndrome|Hemoglobin H-Related Mental Retardation; HBHR|Mental Retardation with Hemoglobin H			HBHR	Human only
113900	Progressive Familial Heart Block, Type IA; PFHB1A	Bundle Branch Block|Cardiac Conduction Defect, Progressive; PCCD|Heart Block, Progressive Familial, Type I; PFHBI|Lenegre-Lev Disease|Pfhbia			HBN1	Human only
604559	Progressive Familial Heart Block, Type IB; PFHB1B	Pfhbib			HBN1	Human only
607258	Hypercalciuria, Absorptive, 1	HCA1			HCA1	Human only
607464	Thyroid Carcinoma, Hurthle Cell	Hurthle Cell Thyroid Neoplasia			HCC	Human only
163800	Sick Sinus Syndrome 2, Autosomal Dominant; SSS2	Atrial Fibrillation with Bradyarrhythmia|Sinus Bradycardia Syndrome, Familial, Autosomal Dominant|Sinus Node Disease, Familial, Autosomal Dominant|SSS, Autosomal Dominant	Hcn4	MGI:1298209	HCN4	Human only
613123	Brugada Syndrome 8; BRGDA8		Hcn4	MGI:1298209	HCN4	Human only
122460	Coronavirus 229E Susceptibility; CVS	Human Coronavirus Sensitivity; HCVS			HCVS	Human only
600430	Brachydactyly-Mental Retardation Syndrome; BDMR		Hdac4	MGI:3036234	HDAC4	Human only
607053	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 2	Hdlcq2			HDLC2	Human only
607687	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 3	Hdlcq3			HDLC3	Human only
606613	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 1; HDLCQ1	HDLC1			HDLCQ1	Human only
610239	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 4	Hdlcq4			HDLCQ4	Human only
610761	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5	Hdlcq5			HDLCQ5	Human only
610762	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6; HDLCQ6				HDLCQ6	Human only
300221	Hodgkin Disease, X-Linked Pseudoautosomal				HDPA	Human only
602089	Hemangioma, Capillary Infantile	HCI|Hemangioma, Hereditary Capillary			HEMC	Human only
613686	Spondylocostal Dysostosis 4, Autosomal Recessive; SCDO4		Hes7	MGI:2135679	HES7	Human only
425500	Hairy Ears, Y-Linked	Hypertrichosis Pinnae Auris, Y-Linked			HEY	Human only
104300	Alzheimer Disease; AD		Hfe	MGI:109191	HFE	Human only
176200	Porphyria Variegata	Porphyria, South African Type|Ppox Deficiency Variegate Porphyria, Homozygous Variant|Protoporphyrinogen Oxidase Deficiency|Variegate Porphyria; VP	Hfe	MGI:109191	HFE	Human only
612635	Microvascular Complications of Diabetes, Susceptibility to, 7; MVCD7	Nephropathy, Diabetic, Susceptibility to|Nonproliferative Retinopathy, Diabetic, Susceptibility to|Proliferative Retinopathy, Diabetic, Susceptibility to	Hfe	MGI:109191	HFE	Human only
164210	Hemifacial Microsomia; HFM	Facioauriculovertebral Sequence|Fav Sequence|Goldenhar Syndrome|OAV Dysplasia|Oculoauriculovertebral Dysplasia|Oculoauriculovertebral Spectrum; OAVS			HFM	Human only
608265	Deafness, Autosomal Recessive 39; DFNB39		Hgf	MGI:96079	HGF	Human only
252930	Mucopolysaccharidosis Type IIIC	Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency|Mps IIIC; MPS3C|Sanfilippo Syndrome C	Hgsnat	MGI:1196297	HGSNAT	Human only
145981	Hypocalciuric Hypercalcemia, Familial, Type II; HHC2	Familial Benign Hypercalcemia, Type II; FBH2|Hypercalcemia, Familial Benign, Type II			HHC2	Human only
600740	Hypocalciuric Hypercalcemia, Familial, Type III; HHC3	Familial Benign Hypercalcemia, Type III; FBH3|Hypercalcemia, Familial Benign, Oklahoma Type|Hypercalcemia, Familial Benign, Type III			HHC3	Human only
610655	Telangiectasia, Hereditary Hemorrhagic, Type 4; HHT4				HHT4	Human only
250620	Beta-Hydroxyisobutyryl Coa Deacylase Deficiency	3-hydroxyisobutyryl-Coa Hydrolase Deficiency|Hibch Deficiency|Methacrylic Acid Toxicity|Methacrylic Aciduria|Valine Metabolic Defect	Hibch	MGI:1923792	HIBCH	Human only
176807	Prostate Cancer		Hip1	MGI:1099804	HIP1	Human only
602782	Histiocytosis with Joint Contractures and Sensorineural Deafness	Faisalabad Histiocytosis|HJCD			HJCD	Human only
106300	Spondyloarthropathy, Susceptibility to, 1; SPDA1	Ankylosing Spondylitis, Susceptibility to|Bechterew Syndrome|Marie-Strumpell Spondylitis	H2-Q10	MGI:95929	HLA-A	Human only
608579	Severe Cutaneous Adverse Reaction, Susceptibility to		H2-Q10	MGI:95929	HLA-A	Human only
142800	Major Histocompatibility Complex, Class I, A; HLA-A		H2-Q10	MGI:95929	HLA-A	Human only
106300	Spondyloarthropathy, Susceptibility to, 1; SPDA1	Ankylosing Spondylitis, Susceptibility to|Bechterew Syndrome|Marie-Strumpell Spondylitis	H2-Q1	MGI:95928	HLA-B	Human only
608579	Severe Cutaneous Adverse Reaction, Susceptibility to		H2-Q1	MGI:95928	HLA-B	Human only
142830	Major Histocompatibility Complex, Class I, B; HLA-B		H2-Q1	MGI:95928	HLA-B	Human only
177900	Psoriasis Susceptibility 1; PSORS1				HLA-C	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to				HLA-C	Human only
212750	Celiac Disease; CD	Celiac Sprue	H2-Aa	MGI:95895	HLA-DQA1	Human only
123400	Creutzfeldt-Jakob Disease; CJD		H2-Ab1	MGI:103070	HLA-DQB1	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		H2-Ab1	MGI:103070	HLA-DQB1	Human only
212750	Celiac Disease; CD	Celiac Sprue	H2-Ab1	MGI:103070	HLA-DQB1	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		H2-Eb1	MGI:95901	HLA-DRB1	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	H2-Eb1	MGI:95901	HLA-DRB1	Human only
181000	Sarcoidosis, Susceptibility to, 1; SS1	Boeck Sarcoid|Sarcoidosis	H2-Eb1	MGI:95901	HLA-DRB1	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	H2-M3	MGI:95915	HLA-G	Human only
253270	Holocarboxylase Synthetase Deficiency	HLCS Deficiency|Multiple Carboxylase Deficiency, Early Onset|Multiple Carboxylase Deficiency, Neonatal Form	Hlcs	MGI:894646	HLCS	Human only
604802	Huntington Disease-Like 3; HDL3	Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive			HLN2	Human only
144150	Hyperkeratosis Lenticularis Perstans; HLP	Flegel Disease			HLP	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Hmcn2	MGI:2677838	HMCN1	Human only
151900	Lipomatosis, Multiple	Lipoma; LIPO|Lipomatosis, Familial Multiple; FML	Hmga2	MGI:101761	HMGA2	Human only
246450	3-hydroxy-3-Methylglutaryl-Coa Lyase Deficiency; HMGCLD	Hl Deficiency|Hmg-Coa Lyase Deficiency|Hmgcl Deficiency|Hydroxymethylglutaric Aciduria	Hmgcl	MGI:96158	HMGCL	Human only
142910	3-hydroxy-3-Methylglutaryl-Coa Reductase; HMGCR		Hmgcr	MGI:96159	HMGCR	Human only
605911	3-hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency	Hmgcs2 Deficiency|Mitochondrial Hmg-Coa Synthase Deficiency	Hmgcs2	MGI:101939	HMGCS2	Human only
300337	Hypomelanosis of Ito; HMI	Incontinentia Pigmenti Achromians; IPA|Incontinentia Pigmenti, Type I, Formerly; IP1, FORMERLY|Ito Hypomelanosis; ITO			HMI	Human only
114480	Breast Cancer		Hmmr	MGI:104667	HMMR	Human only
158580	Neuronopathy, Distal Hereditary Motor, Type Viia; HMN7A	Dhmn7a|DHMNVP|Harper-Young Myopathy|Hmn Viia|Neuropathy, Distal Hereditary Motor, Type Viia|Spinal Muscular Atrophy, Distal, with Vocal Cord Paralysis			HMN7A	Human only
605726	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2; DSMA2	Neuronopathy, Distal Hereditary Motor, Jerash Type|Neuropathy, Distal Hereditary Motor, Jerash Type; HMNJ|Spinal Muscular Atrophy, Jerash Type			HMNJ	Human only
606963	Pulmonary Disease, Chronic Obstructive		Hmox1	MGI:96163	HMOX1	Human only
604484	Neuropathy, Hereditary Motor and Sensory, Okinawa Type	Hereditary Motor and Sensory Neuropathy, Proximal Type; HMSNP|HMSNO			HMSNO	Human only
146550	Hypotrichosis 4; HYPT4	Hypotrichosis, Marie Unna Type, 1|Marie Unna Hereditary Hypotrichosis 1; MUHH1			HMU	Human only
142330	Hepatic Adenomas, Familial	Liver Cell Adenomas, Familial	Hnf1a	MGI:98504	HNF1A	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Hnf1a	MGI:98504	HNF1A	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Hnf1a	MGI:98504	HNF1A	Human only
612520	Diabetes Mellitus, Insulin-Dependent, 20; IDDM20		Hnf1a	MGI:98504	HNF1A	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Hnf1b	MGI:98505	HNF1B	Human only
137920	Renal Cysts and Diabetes Syndrome	Fjhn, Atypical|Glomerulocystic Kidney Disease, Hypoplastic Type|Glomerulocystic Kidney, Familial Hypoplastic|Hyperuricemic Nephropathy, Familial Juvenile, Atypical|Maturity-Onset Diabetes of the Young, Type 5; MODY5|Rcad	Hnf1b	MGI:98505	HNF1B	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Hnf1b	MGI:98505	HNF1B	Human only
176807	Prostate Cancer		Hnf1b	MGI:98505	HNF1B	Human only
611955	Prostate Cancer, Hereditary, 11; HPC11		Hnf1b	MGI:98505	HNF1B	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Hnf4a	MGI:109128	HNF4A	Human only
606391	Maturity-Onset Diabetes of the Young; MODY	Mason-Type Diabetes	Hnf4a	MGI:109128	HNF4A	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Hnmt	MGI:2153181	HNMT	Human only
608026	Hypertensive Nephropathy; HNP1				HNP1	Human only
613616	Hyperoxaluria, Primary, Type III; HP3		Hoga1	MGI:1914682	HOGA1	Human only
601536	Athabaskan Brainstem Dysgenesis Syndrome; ABDS		Hoxa1	MGI:96170	HOXA1	Human only
176305	Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias	Guttmacher Syndrome	Hoxa13	MGI:96173	HOXA13	Human only
612290	Microtia, Hearing Impairment, and Cleft Palate		Hoxa2	MGI:96174	HOXA2	Human only
192950	Vertical Talus, Congenital; CVT	Rocker-Bottom Foot	Hoxd10	MGI:96202	HOXD10	Human only
113200	Brachydactyly, Type D; BDD	Stub Thumb	Hoxd13	MGI:96205	HOXD13	Human only
113300	Brachydactyly, Type E1; BDE1	Brachydactyly, Type E; BDE	Hoxd13	MGI:96205	HOXD13	Human only
186300	Syndactyly, Type V	Syndactyly with Metacarpal and Metatarsal Fusion	Hoxd13	MGI:96205	HOXD13	Human only
192350	Vater Association		Hoxd13	MGI:96205	HOXD13	Human only
610713	Brachydactyly-Syndactyly Syndrome	Bdsd	Hoxd13	MGI:96205	HOXD13	Human only
142981	Homeobox D4; HOXD4	Homeobox 4b; HOX4B|Hox-4.2, Mouse, Homolog of	Hoxd4	MGI:96208	HOXD4	Human only
611100	Prostate Cancer, Hereditary, 10; HPC10				HPC10	Human only
611958	Prostate Cancer, Hereditary, 14; HPC14				HPC14	Human only
611959	Prostate Cancer, Hereditary, 15; HPC15				HPC15	Human only
176807	Prostate Cancer				HPC3	Human only
608656	Prostate Cancer, Hereditary, 3	Hpc3			HPC3	Human only
176807	Prostate Cancer				HPC4	Human only
608658	Prostate Cancer, Hereditary, 4	Hpc4|Prostate Cancer, Hereditary, on Chromosome 7			HPC4	Human only
176807	Prostate Cancer				HPC5	Human only
609299	Prostate Cancer, Hereditary, 5	Hpc5			HPC5	Human only
176807	Prostate Cancer				HPC6	Human only
609558	Prostate Cancer, Hereditary, 6	Hpc6			HPC6	Human only
610321	Prostate Cancer, Hereditary, 7; HPC7	Prostate Cancer Aggressiveness			HPC7	Human only
610997	Prostate Cancer, Hereditary, 9	Hpc9			HPC9	Human only
176807	Prostate Cancer				HPCQTL19	Human only
607592	Prostate Cancer Aggressiveness Quantitative Trait Locus on Chromosome 19	HPCQTL19			HPCQTL19	Human only
176807	Prostate Cancer				HPCX	Human only
300147	Prostate Cancer, Hereditary, X-Linked 1; HPCX1	Prostate Cancer Susceptibility, X-Linked; PCSX			HPCX	Human only
300704	Prostate Cancer, Hereditary, X-Linked 2; HPCX2				HPCX2	Human only
140350	Hawkinsinuria		Hpd	MGI:96213	HPD	Human only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC			HPE1	Human only
236100	Holoprosencephaly	Holoprosencephaly, Familial Alobar|HPE, Familial; HPEC			HPE6	Human only
605934	Holoprosencephaly 6; HPE6				HPE6	Human only
609408	Holoprosencephaly 8; HPE8				HPE8	Human only
142335	Fetal Hemoglobin Quantitative Trait Locus 5; HBFQTL5				HPFH2	Human only
119900	Digital Clubbing, Isolated Congenital	Acropachy, Hereditary|Clubbing of Digits	Hpgd	MGI:108085	HPGD	Human only
259100	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1; PHOAR1	Pachydermoperiostosis, Autosomal Recessive|Pdp, Autosomal Recessive|Pho, Autosomal Recessive	Hpgd	MGI:108085	HPGD	Human only
267700	Hemophagocytic Lymphohistiocytosis, Familial, 1; FHL1	Erythrophagocytic Lymphohistiocytosis, Familial; FEL|Hemophagocytic Lymphohistiocytosis, Familial; FHL; FHLH; HPLH|Hemophagocytic Reticulosis, Familial|Hlh1|Hplh1|Reticulosis, Familial Histiocytic			HPLH1	Human only
612089	Hypophosphatemic Rickets and Hyperparathyroidism				HPRHP	Human only
300323	Gout, HPRT-Related	HPRT Deficiency, Partial|HPRT1 Deficiency, Partial|Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial|Kelley-Seegmiller Syndrome	Hprt	MGI:96217	HPRT1	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Hps3	MGI:2153839	HPS3	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Hps4	MGI:2177742	HPS4	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Hps5	MGI:2180307	HPS5	Human only
203300	Hermansky-Pudlak Syndrome 1; HPS1	Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells|Delta Storage Pool Disease	Hps6	MGI:2181763	HPS6	Human only
236730	Urofacial Syndrome; UFS	Facial Palsy, Partial, with Urinary Abnormalities|Hydronephrosis with Peculiar Facial Expression|Inverted Smile and Occult Neuropathic Bladder|Ochoa Syndrome	Hpse2	MGI:2685814	HPSE2	Human only
307700	Hypoparathyroidism, X-Linked; HYPX	Parathyroid Glands, Agenesis of			HPT	Human only
167959	Human Papillomavirus Type 18 Integration Site 1; HPV18I1	Papillomavirus Type 18 Integration Site 1			HPV18I1	Human only
167960	Human Papillomavirus Type 18 Integration Site 2; HPV18I2	Papillomavirus Type 18 Integration Site 2			HPV18I2	Human only
109800	Bladder Cancer		Hras1	MGI:96224	HRAS	Human only
188470	Thyroid Carcinoma, Follicular; FTC		Hras1	MGI:96224	HRAS	Human only
613116	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency		Hrg	MGI:2146636	HRG	Human only
145000	Hyperparathyroidism 1; HRPT1				HRPT1	Human only
610071	Hyperparathyroidism 3; HRPT3	Hyperparathyroidism, Familial Isolated			HRPT3	Human only
145290	Hyperreflexia; HRX				HRX	Human only
611644	Hirschsprung Disease, Susceptibility to, 9; HSCR9				HSCR9	Human only
600156	Hirschsprung Disease, Susceptibility to, 5; HSCR5				HSCRM1	Human only
608462	Hirschsprung Disease, Susceptibility to, 8; HSCR8				HSCRM2	Human only
606874	Hirschsprung Disease, Susceptibility to, 6; HSCR6				HSCRS2	Human only
606875	Hirschsprung Disease, Susceptibility to, 7; HSCR7				HSCRS3	Human only
300220	Mental Retardation, X-Linked, Syndromic 10; MRXS10	Chorioathetosis with Mental Retardation and Abnormal Behavior; CAMR|Mental Retardation with Chorioathetosis and Abnormal Behavior	Hsd17b10	MGI:1333871	HSD17B10	Human only
300438	17-beta-Hydroxysteroid Dehydrogenase X Deficiency	2-methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency|3-hydroxyacyl-Coa Dehydrogenase II Deficiency|Hsd10 Deficiency|Hsd17b10 Deficiency|MHBD Deficiency	Hsd17b10	MGI:1333871	HSD17B10	Human only
300705	Mental Retardation, X-Linked 17; MRX17	Mental Retardation, X-Linked 31; MRX31	Hsd17b10	MGI:1333871	HSD17B10	Human only
264300	17-beta Hydroxysteroid Dehydrogenase III Deficiency	17-ketosteroid Reductase Deficiency of Testis|17-ksr Deficiency|Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency	Hsd17b3	MGI:107177	HSD17B3	Human only
201810	3-beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of	3-beta-Hsd Deficiency; HSDB|3-beta-Hydroxysteroid Dehydrogenase Deficiency|Adrenal Hyperplasia II	Hsd3b1	MGI:96233	HSD3B2	Human only
607765	Bile Acid Synthesis Defect, Congenital, 1; CBAS1	3-beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Hsd3b7	MGI:2141879	HSD3B7	Human only
116800	Cataract, Lamellar	Cataract, Zonular	Hsf4	MGI:1347058	HSF4	Human only
608088	Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux	Neuropathy, Hereditary Sensory and Autonomic, Type IB; HSAN1B|Neuropathy, Hereditary Sensory, Type IB; HSN1B			HSN1B	Human only
606595	Charcot-Marie-Tooth Disease, Axonal, Type 2F; CMT2F	Charcot-Marie-Tooth Disease, Neuronal, Type 2F|Charcot-Marie-Tooth Neuropathy, Type 2F	Hspb1	MGI:96240	HSPB1	Human only
608634	Neuronopathy, Distal Hereditary Motor, Type IIB; HMN2B	Dhmn2b|Hmn IIB|Neuropathy, Distal Hereditary Motor, Type IIB	Hspb1	MGI:96240	HSPB1	Human only
613376	Neuronopathy, Distal Hereditary Motor, Type IIC; HMN2C	Dhmn2c|Hmn IIC|Neuropathy, Distal Hereditary Motor, Type IIC	Hspb3	MGI:1928479	HSPB3	Human only
158590	Neuronopathy, Distal Hereditary Motor, Type IIA; HMN2A	Charcot-Marie-Tooth Disease, Spinal, I|Charcot-Marie-Tooth Disease, Spinal, IIA|Dhmn1|Dhmn2a|Hmn I|Hmn IIA|Neuropathy, Distal Hereditary Motor, Type I|Neuropathy, Distal Hereditary Motor, Type IIA|Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, IIA|Spinal Muscular Atrophy, Distal, Juvenile, Autosomal Dominant, I	Hspb8	MGI:2135756	HSPB8	Human only
608673	Charcot-Marie-Tooth Disease, Axonal, Type 2L; CMT2L	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2L|Charcot-Marie-Tooth Neuropathy, Axonal, Type 2L	Hspb8	MGI:2135756	HSPB8	Human only
605280	Spastic Paraplegia 13, Autosomal Dominant; SPG13		Hspd1	MGI:96242	HSPD1	Human only
612233	Leukodystrophy, Hypomyelinating, 4; HLD4	Mitchap60 Disease|Mitochondrial Hsp60 Chaperonopathy	Hspd1	MGI:96242	HSPD1	Human only
140300	Hashimoto Thyroiditis	Hashimoto Struma|HT			HT	Human only
145700	Hypertrichosis Universalis	Hypertrichosis Lanuginosa Congenita			HTC1	Human only
307150	Hypertrichosis, Congenital Generalized; HTC2	Cgh|Chromosome Xq27.1 Interchromosomal Insertion Syndrome|Hcg			HTC2	Human only
135400	Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia	Chromosome 17q24.2-Q24.3 Deletion Syndrome|Fibromatosis, Gingival, with Hypertrichosis|Microdeletion 17q24.2-Q24.3 Syndrome			HTGH	Human only
145750	Hypertriglyceridemia, Familial				HTGS	Human only
112410	Hypertension with Brachydactyly	Bilginturan Syndrome|Brachydactyly with Hypertension|Brachydactyly, Type E, with Short Stature and Hypertension|HTNB			HTNB	Human only
143460	5-hydroxytryptamine Oxygenase Regulator; HTOR				HTOR	Human only
103780	Alcohol Dependence	Alcoholism	Htr2a	MGI:109521	HTR2A	Human only
164230	Obsessive-Compulsive Disorder; OCD		Htr2a	MGI:109521	HTR2A	Human only
181500	Schizophrenia; SCZD		Htr2a	MGI:109521	HTR2A	Human only
606788	Anorexia Nervosa, Susceptibility to, 1; ANON1	AN	Htr2a	MGI:109521	HTR2A	Human only
608516	Major Depressive Disorder; MDD		Htr2a	MGI:109521	HTR2A	Human only
610149	Macular Degeneration, Age-Related, 7; ARMD7		Htra1	MGI:1929076	HTRA1	Human only
605389	Hypotrichosis 1; HYPT1	HTS|Hypotrichosis Simplex, Generalized, Hereditary; HHS			HTS	Human only
606325	Heterotaxy, Visceral, 3, Autosomal; HTX3				HTX3	Human only
300220	Mental Retardation, X-Linked, Syndromic 10; MRXS10	Chorioathetosis with Mental Retardation and Abnormal Behavior; CAMR|Mental Retardation with Chorioathetosis and Abnormal Behavior	Huwe1	MGI:1926884	HUWE1	Human only
300706	Mental Retardation, X-Linked, Syndromic, Turner Type; MRXST	Mental Retardation and Macrocephaly Syndrome	Huwe1	MGI:1926884	HUWE1	Human only
613339	Epilepsy, Hot Water, 1; HWE1	Bathing Epilepsy|Water Immersion Epilepsy			HWE1	Human only
613340	Epilepsy, Hot Water, 2; HWE2				HWE2	Human only
605201	High Density Lipoprotein Deficiency 3	HDLD3|HYALP			HYALP	Human only
602639	Tooth Agenesis, Selective, 2; STHAG2	Hypodontia/Oligodontia 2; HYD2			HYD2	Human only
236680	Hydrolethalus Syndrome 1; HLS1		Hyls1	MGI:1924082	HYLS1	Human only
601410	Diabetes Mellitus, Transient Neonatal, 1	DMTN|TNDM|Tndm1			HYMAI	Human only
604499	Hyperlipidemia, Combined, 2	Hyperlipidemia, Familial Combined, 2; FCHL2|HYPLIP2			HYPLIP2	Human only
145500	Hypertension, Essential	EHT			HYT1	Human only
603918	Hypertension, Essential, Susceptibility to, 1	HYT1			HYT1	Human only
145500	Hypertension, Essential	EHT			HYT2	Human only
604329	Hypertension, Essential, Susceptibility to, 2	HYT2			HYT2	Human only
145500	Hypertension, Essential	EHT			HYT3	Human only
607329	Hypertension, Essential, Susceptibility to, 3	HYT3			HYT3	Human only
145500	Hypertension, Essential	EHT			HYT4	Human only
608742	Hypertension, Essential, Susceptibility to, 4	HYT4			HYT4	Human only
145500	Hypertension, Essential	EHT			HYT5	Human only
610261	Hypertension, Essential, Susceptibility to, 5	Hypertension, Essential, Body Mass-Related|Hyt5			HYT5	Human only
145500	Hypertension, Essential	EHT			HYT6	Human only
610262	Hypertension, Essential, Susceptibility to, 6	Hypertension, Essential, Kidney Function-Related|Hyt6			HYT6	Human only
610948	Hypertension, Essential, Susceptibility to, 7	Hyt7			HYT7	Human only
611014	Hypertension, Essential, Susceptibility to, 8; HYT8				HYT8	Human only
191390	Inflammatory Bowel Disease 11; IBD11				IBD11	Human only
612241	Inflammatory Bowel Disease 12; IBD12				IBD12	Human only
612255	Inflammatory Bowel Disease 15; IBD15				IBD15	Human only
612259	Inflammatory Bowel Disease 16; IBD16				IBD16	Human only
612262	Inflammatory Bowel Disease 18; IBD18				IBD18	Human only
612278	Inflammatory Bowel Disease 19; IBD19				IBD19	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD2	Human only
601458	Inflammatory Bowel Disease 2; IBD2				IBD2	Human only
612288	Inflammatory Bowel Disease 20; IBD20				IBD20	Human only
612354	Inflammatory Bowel Disease 21; IBD21				IBD21	Human only
612380	Inflammatory Bowel Disease 22; IBD22				IBD22	Human only
612381	Inflammatory Bowel Disease 23; IBD23				IBD23	Human only
612566	Inflammatory Bowel Disease 24; IBD24				IBD24	Human only
612567	Inflammatory Bowel Disease 25, Autosomal Recessive; IBD25	Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive			IBD25	Human only
612639	Inflammatory Bowel Disease 26; IBD26				IBD26	Human only
612796	Inflammatory Bowel Disease 27; IBD27				IBD27	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD3	Human only
604519	Inflammatory Bowel Disease 3; IBD3				IBD3	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD4	Human only
606675	Inflammatory Bowel Disease 4; IBD4				IBD4	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD5	Human only
606348	Inflammatory Bowel Disease 5; IBD5				IBD5	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD6	Human only
606674	Inflammatory Bowel Disease 6; IBD6				IBD6	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD7	Human only
605225	Inflammatory Bowel Disease 7; IBD7				IBD7	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD8	Human only
606668	Inflammatory Bowel Disease 8; IBD8				IBD8	Human only
266600	Inflammatory Bowel Disease 1; IBD1				IBD9	Human only
608448	Inflammatory Bowel Disease 9; IBD9				IBD9	Human only
213600	Basal Ganglia Calcification, Idiopathic, 1; IBGC1	Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset|Fahr Disease, Familial, Formerly|Ferrocalcinosis, Cerebrovascular|Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset|Striopallidodentate Calcinosis, Bilateral; BSPDC			IBGC1	Human only
248310	Plasmodium Falciparum Blood Infection Level	Pfbi|Plasmodium Falciparum Parasitemia	Icam1	MGI:96392	ICAM1	Human only
611162	Malaria, Susceptibility to		Icam1	MGI:96392	ICAM1	Human only
602066	Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis;	ICCA|ICCA Syndrome|Infantile Convulsions and Paroxysmal Choreoathetosis, Familial			ICCA	Human only
612651	Endocrine-Cerebroosteodysplasia; ECO		Ick	MGI:1934157	ICK	Human only
601942	Diabetes Mellitus, Insulin-Dependent, 10; IDDM10	Insulin-Dependent Diabetes Mellitus 10			IDDM10	Human only
601208	Diabetes Mellitus, Insulin-Dependent, 11; IDDM11	Insulin-Dependent Diabetes Mellitus 11			IDDM11	Human only
601318	Diabetes Mellitus, Insulin-Dependent, 13; IDDM13	Insulin-Dependent Diabetes Mellitus 13			IDDM13	Human only
601666	Diabetes Mellitus, Insulin-Dependent, 15; IDDM15	Insulin-Dependent Diabetes Mellitus 15			IDDM15	Human only
603266	Diabetes Mellitus, Insulin-Dependent, 17; IDDM17	Insulin-Dependent Diabetes Mellitus 17			IDDM17	Human only
605598	Diabetes Mellitus, Insulin-Dependent, 18; IDDM18	Insulin-Dependent Diabetes Mellitus 18			IDDM18	Human only
125852	Diabetes Mellitus, Insulin-Dependent, 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2			IDDM2	Human only
612622	Diabetes Mellitus, Insulin-Dependent, 23; IDDM23				IDDM23	Human only
613006	Diabetes Mellitus, Insulin-Dependent, 24; IDDM24				IDDM24	Human only
600318	Diabetes Mellitus, Insulin-Dependent, 3; IDDM3	Insulin-Dependent Diabetes Mellitus 3			IDDM3	Human only
600319	Diabetes Mellitus, Insulin-Dependent, 4; IDDM4	Insulin-Dependent Diabetes Mellitus 4			IDDM4	Human only
601941	Diabetes Mellitus, Insulin-Dependent, 6; IDDM6				IDDM6	Human only
600321	Diabetes Mellitus, Insulin-Dependent, 7; IDDM7	Insulin-Dependent Diabetes Mellitus 7			IDDM7	Human only
600883	Diabetes Mellitus, Insulin-Dependent, 8; IDDM8	Insulin-Dependent Diabetes Mellitus 8			IDDM8	Human only
300136	Diabetes Mellitus, Insulin-Dependent, X-Linked, Susceptibility to	IDDMX|Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to			IDDMX	Human only
613657	D-2-hydroxyglutaric Aciduria 2	D2hga2	Idh2	MGI:96414	IDH2	Human only
275000	Graves Disease	GRD|Thyrotoxicosis	Ifih1	MGI:1918836	IFIH1	Human only
610155	Diabetes Mellitus, Insulin-Dependent, 19; IDDM19		Ifih1	MGI:1918836	IFIH1	Human only
610424	Hepatitis B Virus, Susceptibility to	Hbv, Susceptibility to	Ifnar2	MGI:1098243	IFNAR2	Human only
191100	Tuberous Sclerosis 1; TSC1	Tuberose Sclerosis; TS|Tuberous Sclerosis Complex; TSC	Ifng	MGI:107656	IFNG	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Ifng	MGI:107656	IFNG	Human only
609135	Aplastic Anemia		Ifng	MGI:107656	IFNG	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Ifng	MGI:107656	IFNG	Human only
609532	Hepatitis C Virus, Susceptibility to		Ifng	MGI:107656	IFNG	Human only
613254	Tuberous Sclerosis 2; TSC2		Ifng	MGI:107656	IFNG	Human only
209950	Atypical Mycobacteriosis, Familial	Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated	Ifngr1	MGI:107655	IFNGR1	Human only
600263	Helicobacter Pylori Infection, Susceptibility to		Ifngr1	MGI:107655	IFNGR1	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Ifngr1	MGI:107655	IFNGR1	Human only
610424	Hepatitis B Virus, Susceptibility to	Hbv, Susceptibility to	Ifngr1	MGI:107655	IFNGR1	Human only
209950	Atypical Mycobacteriosis, Familial	Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated	Ifngr2	MGI:107654	IFNGR2	Human only
218330	Cranioectodermal Dysplasia 1; CED1	Levin Syndrome I|Sensenbrenner Syndrome	Ift122	MGI:1932386	IFT122	Human only
137100	Immunoglobulin A Deficiency 1; IGAD1	Gamma-A-Globulin, Selective Deficiency of|IgA, Selective Deficiency of|Immunoglobulin A, Selective Deficiency of			IGAD1	Human only
161950	Iga Nephropathy, Susceptibility to, 1; IGAN1	Berger Disease|IGAN|Nephritis, IgA Type			IGAN	Human only
146820	Immune Response to Synthetic Polypeptide--Irgat; IGAT				IGAT	Human only
300472	Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia	Mental Retardation, X-Linked, Syndromic 28; MRXS28	Igbp1	MGI:1346500	IGBP1	Human only
608747	Insulin-Like Growth Factor I Deficiency	Growth Retardation with Sensorineural Deafness and Mental Retardation|IGF1 Deficiency	Igf1	MGI:96432	IGF1	Human only
270450	Insulin-Like Growth Factor I, Resistance to	Somatomedin, End-Organ Insensitivity to|Somatomedin-C, Resistance to	Igf1r	MGI:96433	IGF1R	Human only
147470	Insulin-Like Growth Factor II; IGF2		Igf2	MGI:96434	IGF2	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Igf2bp2	MGI:1890358	IGF2BP2	Human only
601495	Agammaglobulinemia 1, Autosomal Recessive; AGM1	Agammaglobulinemia, Autosomal Recessive, Due to Ighm Defect	Ighm	MGI:96448	IGHM	Human only
613500	Agammaglobulinemia 2, Autosomal Recessive; AGM2	Agammaglobulinemia, Autosomal Recessive, Due to Igll1 Defect	Igll1	MGI:96529	IGLL1	Human only
235000	Hemihyperplasia, Isolated; IH	Hemihyperplasia; HHP			IH	Human only
308500	Iris Hypoplasia with Glaucoma; IHG				IHG1	Human only
607778	Acrocapitofemoral Dysplasia; ACFD		Ihh	MGI:96533	IHH	Human only
610260	Pyloric Stenosis, Infantile Hypertrophic, 2; IHPS2				IHPS2	Human only
612017	Pyloric Stenosis, Infantile Hypertrophic, 3; IHPS3				IHPS3	Human only
300711	Pyloric Stenosis, Infantile Hypertrophic, 4; IHPS4				IHPS4	Human only
612525	Pyloric Stenosis, Infantile Hypertrophic, 5; IHPS5				IHPS5	Human only
223900	Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3	Dysautonomia, Familial; DYS; FD|HSAN III|Riley-Day Syndrome	Ikbkap	MGI:1914544	IKBKAP	Human only
300291	Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency		Ikbkg	MGI:1338074	IKBKG	Human only
300301	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema; OLEDAID		Ikbkg	MGI:1338074	IKBKG	Human only
300584	Immunodeficiency without Anhidrotic Ectodermal Dysplasia	Immunodeficiency, Isolated|Immunodeficiency, Pure	Ikbkg	MGI:1338074	IKBKG	Human only
300636	Atypical Mycobacteriosis, Familial, X-Linked 1; AMCBX1	Atypical Mycobacterial Infection, Disseminated, X-Linked 1|Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1|Mycobacterial Disease, Susceptibility to, X-Linked 1	Ikbkg	MGI:1338074	IKBKG	Human only
300640	Invasive Pneumococcal Disease, Recurrent Isolated, 2; IPD2		Ikbkg	MGI:1338074	IKBKG	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Il10	MGI:96537	IL10	Human only
613148	Inflammatory Bowel Disease 28, Autosomal Recessive; IBD28	Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive	Il10ra	MGI:96538	IL10RA	Human only
610424	Hepatitis B Virus, Susceptibility to	Hbv, Susceptibility to	Il10rb	MGI:109380	IL10RB	Human only
612567	Inflammatory Bowel Disease 25, Autosomal Recessive; IBD25	Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive	Il10rb	MGI:109380	IL10RB	Human only
177900	Psoriasis Susceptibility 1; PSORS1		Il12b	MGI:96540	IL12B	Human only
209950	Atypical Mycobacteriosis, Familial	Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated	Il12b	MGI:96540	IL12B	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Il12b	MGI:96540	IL12B	Human only
209950	Atypical Mycobacteriosis, Familial	Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated	Il12rb1	MGI:104579	IL12RB1	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Il13	MGI:96541	IL13	Human only
607154	Allergic Rhinitis	ALRH	Il13	MGI:96541	IL13	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Il1b	MGI:96543	IL1B	Human only
300143	Mental Retardation, X-Linked 21; MRX21	Mental Retardation, X-Linked 34; MRX34	Il1rapl1	MGI:2687319	IL1RAPL1	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Il1rn	MGI:96547	IL1RN	Human only
612628	Microvascular Complications of Diabetes, Susceptibility to, 4; MVCD4	Nephropathy, Diabetic, Susceptibility to	Il1rn	MGI:96547	IL1RN	Human only
612852	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis;	Interleukin 1 Receptor Antagonist Deficiency; DIRA|Ompp	Il1rn	MGI:96547	IL1RN	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Il21r	MGI:1890475	IL21R	Human only
177900	Psoriasis Susceptibility 1; PSORS1		Il23r	MGI:2181693	IL23R	Human only
266600	Inflammatory Bowel Disease 1; IBD1		Il23r	MGI:2181693	IL23R	Human only
612261	Inflammatory Bowel Disease 17; IBD17		Il23r	MGI:2181693	IL23R	Human only
609532	Hepatitis C Virus, Susceptibility to		Il28b	MGI:2450574	IL28B	Human only
601942	Diabetes Mellitus, Insulin-Dependent, 10; IDDM10	Insulin-Dependent Diabetes Mellitus 10	Il2ra	MGI:96549	IL2RA	Human only
606367	Interleukin 2 Receptor, Alpha, Deficiency of	CD25 Deficiency|IL2RA Deficiency	Il2ra	MGI:96549	IL2RA	Human only
300400	Severe Combined Immunodeficiency, X-Linked; SCIDX1	Immunodeficiency 4; IMD4|SCID, X-Linked|SCIDX; XSCID|Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Il2rg	MGI:96551	IL2RG	Human only
312863	Combined Immunodeficiency, X-Linked; CIDX	Immunodeficiency 6; IMD6|XCID	Il2rg	MGI:96551	IL2RG	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Il4ra	MGI:105367	IL4R	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to		Il4ra	MGI:105367	IL4R	Human only
108010	Arteriovenous Malformations of the Brain	Bavm	Il6	MGI:96559	IL6	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Il6	MGI:96559	IL6	Human only
148000	Kaposi Sarcoma	Multiple Idiopathic Pigmented Hemangiosarcoma	Il6	MGI:96559	IL6	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Il6	MGI:96559	IL6	Human only
266600	Inflammatory Bowel Disease 1; IBD1		Il6	MGI:96559	IL6	Human only
604302	Rheumatoid Arthritis, Systemic Juvenile	Systemic Juvenile Rheumatoid Arthritis	Il6	MGI:96559	IL6	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		Il7r	MGI:96562	IL7R	Human only
600802	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Il7r	MGI:96562	IL7R	Human only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Il7r	MGI:96562	IL7R	Human only
609646	Deafness, Autosomal Recessive 42; DFNB42		Ildr1	MGI:2146574	ILDR1	Human only
300290	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	IMAGE Syndrome			IMAGE	Human only
180105	Retinitis Pigmentosa 10; RP10		Impdh1	MGI:96567	IMPDH1	Human only
613581	Retinitis Pigmentosa 56; RP56		Impg2	MGI:3044955	IMPG2	Human only
300076	Immunoneurologic Disorder, X-Linked	Woods-Black-Norbury Syndrome			INDX	Human only
613237	Focal Segmental Glomerulosclerosis 5; FSGS5	Glomerulosclerosis, Focal Segmental, 5	Inf2	MGI:1917685	INF2	Human only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Ing1	MGI:1349481	ING1	Human only
604781	Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive; NNCI				INLNE	Human only
213300	Joubert Syndrome; JBTS	Joubert-Boltshauser Syndrome	Inpp5e	MGI:1927753	INPP5E	Human only
610156	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis	Morm Syndrome	Inpp5e	MGI:1927753	INPP5E	Human only
125850	Maturity-Onset Diabetes of the Young, Type 1; MODY1	Mild Juvenile Diabetes Mellitus|Mody, Type 1	Ins2	MGI:96573	INS	Human only
125852	Diabetes Mellitus, Insulin-Dependent, 2	Insulin-Dependent Diabetes Mellitus 2; IDDM2	Ins2	MGI:96573	INS	Human only
176730	Insulin; INS		Ins2	MGI:96573	INS	Human only
613370	Maturity-Onset Diabetes of the Young, Type 10; MODY10		Ins2	MGI:96573	INS	Human only
246200	Donohue Syndrome		Insr	MGI:96575	INSR	Human only
262190	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	Mendenhall Syndrome|Rabson-Mendenhall Syndrome	Insr	MGI:96575	INSR	Human only
609968	Hyperinsulinemic Hypoglycemia, Familial, 5; HHF5		Insr	MGI:96575	INSR	Human only
610549	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A|Insulin Receptor, Defect In, with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans|Iran, Type A	Insr	MGI:96575	INSR	Human only
603783	Intelligence Quantitative Trait Locus 1	Intlq1			INTLQ1	Human only
610295	Intelligence Quantitative Trait Locus 3	Intlq3			INTLQ2	Human only
610294	Intelligence Quantitative Trait Locus 2	Intlq2			INTLQ3	Human only
602088	Nephronophthisis 2; NPHP2	NPH2	Invs	MGI:1335082	INVS	Human only
300048	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	CIIP, X-Linked; CIIPX|Congenital Idiopathic Intestinal Pseudoobstruction; CIIP|Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement|IPOX			IPOX	Human only
609254	Senior-Loken Syndrome 5; SLSN5		Iqcb1	MGI:2443764	IQCB1	Human only
309530	Mental Retardation, X-Linked 1; MRX1		Iqsec2	MGI:3528396	IQSEC2	Human only
611064	Asthma-Related Traits, Susceptibility to, 5	Asrt5	Irak3	MGI:1921164	IRAK3	Human only
607676	IRAK4 Deficiency	IRAK4D	Irak4	MGI:2182474	IRAK4	Human only
610799	Invasive Pneumococcal Disease, Recurrent Isolated, 1; IPD1		Irak4	MGI:2182474	IRAK4	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Irf1	MGI:96590	IRF1	Human only
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	Irf1	MGI:96590	IRF1	Human only
211980	Lung Cancer		Irf1	MGI:96590	IRF1	Human only
612245	Inflammatory Bowel Disease 14; IBD14		Irf5	MGI:1350924	IRF5	Human only
612251	Systemic Lupus Erythematosus, Susceptibility to, 10; SLEB10		Irf5	MGI:1350924	IRF5	Human only
608864	Orofacial Cleft 6, Susceptibility To; OFC6	Cleft Lip with or without Cleft Palate, Nonsyndromic, 6	Irf6	MGI:1859211	IRF6	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Irgm1	MGI:107567	IRGM	Human only
147545	Insulin Receptor Substrate 1; IRS1		Irs1	MGI:99454	IRS1	Human only
607354	Scoliosis, Idiopathic, Susceptibility to, 2; IS2	Scoliosis, Adolescent Idiopathic 2			IS2	Human only
612238	Scoliosis, Idiopathic, Susceptibility to, 4; IS4				IS4	Human only
612239	Scoliosis, Idiopathic, Susceptibility to, 5; IS5				IS5	Human only
255125	Myopathy with Lactic Acidosis, Hereditary; HML	Myoglobinuria Due to Abnormal Glycolysis|Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase|Myopathy with Exercise Intolerance, Swedish Type	Iscu	MGI:1913633	ISCU	Human only
146850	Immune Suppression; IS	ISCW|Streptococcal Cell Wall Antigen, Suppression of Immune Response To; ISSCW			ISCW	Human only
145701	Hypertrichosis Universalis Congenita, Ambras Type; HTC1	Ambras Syndrome			ITC1	Human only
613385	Autoimmune Disease, Syndromic Multisystem		Itch	MGI:1202301	ITCH	Human only
273800	Glanzmann Thrombasthenia; GT	Bleeding Disorder, Platelet-Type, 2; BDPLT2|Glycoprotein Complex IIb-IIIa, Deficiency of|Gp Iib-Iiia Complex, Deficiency of|Platelet Fibrinogen Receptor, Deficiency of|Platelet Glycoprotein IIb-IIIa Deficiency|Thrombasthenia of Glanzmann and Naegeli	Itga2b	MGI:96601	ITGA2B	Human only
226730	Epidermolysis Bullosa Junctionalis with Pyloric Atresia	Aplasia Cutis Congenita with Gastrointestinal Atresia|Carmi Syndrome|Eb-Pa-Acc|Epidermolysis Bullosa, Junctional, with Pyloric Atresia|Epidermylosis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita|Jeb-Pa|Junctional Epidermolysis Bullosa with Pyloric Atresia	Itga6	MGI:96605	ITGA6	Human only
609939	Systemic Lupus Erythematosus, Susceptibility to, 6; SLEB6		Itgam	MGI:96607	ITGAM	Human only
152700	Systemic Lupus Erythematosus; SLE		Itgax	MGI:96609	ITGAX	Human only
173470	Integrin, Beta-3; ITGB3	Gp IIIA|Platelet Fibrinogen Receptor, Beta Subunit|Platelet Glycoprotein IIIA; GP3A	Itgb3	MGI:96612	ITGB3	Human only
131800	Epidermolysis Bullosa Simplex, Localized	EBS, Acral Form|Epidermolysis Bullosa of Hands and Feet|Epidermolysis Bullosa Simplex, Weber-Cockayne Type	Itgb4	MGI:96613	ITGB4	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Itih4	MGI:109536	ITIH4	Human only
613011	Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1		Itk	MGI:96621	ITK	Human only
611775	Kawasaki Disease	Infantile Polyarteritis|Kd|Mucocutaneous Lymph Node Syndrome	Itpkc	MGI:2442554	ITPKC	Human only
606658	Spinocerebellar Ataxia 15; SCA15	Spinocerebellar Ataxia 16, Formerly; SCA16, FORMERLY	Itpr1	MGI:96623	ITPR1	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Itpr3	MGI:96624	ITPR3	Human only
606960	Insulinoma Tumor Suppressor Gene Locus				ITS	Human only
270100	Heterotaxy, Visceral, 5, Autosomal; HTX5	Situs Inversus Viscerum; SIV			IV	Human only
243500	Isovaleric Acidemia; IVA	Isovaleric Acid Coa Dehydrogenase Deficiency|Ivd Deficiency	Ivd	MGI:1929242	IVD	Human only
274800	Thyroid Dyshormonogenesis 4; TDH4	Deiodinase Deficiency|Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4|Iodotyrosine Dehalogenase Deficiency|Thyroid Hormonogenesis, Genetic Defect In, 4	Iyd	MGI:1917587	IYD	Human only
187500	Tetralogy of Fallot; TOF		Jag1	MGI:1095416	JAG1	Human only
601920	Jagged 1; JAG1		Jag1	MGI:1095416	JAG1	Human only
600880	Budd-Chiari Syndrome; BDCHS		Jak2	MGI:96629	JAK2	Human only
601626	Leukemia, Acute Myeloid; AML		Jak2	MGI:96629	JAK2	Human only
613730	Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts		Jam3	MGI:1933825	JAM3	Human only
251255	Microcephaly with Mental Retardation and Digital Anomalies	Jawad Syndrome			JAWAD	Human only
147791	Jacobsen Syndrome; JBS	Chromosome 11q Deletion Syndrome|Partial 11q Monosomy Syndrome			JBS	Human only
606438	Huntington Disease-Like 2; HDL2		Jph3	MGI:1891497	JPH3	Human only
308700	Kallmann Syndrome 1; KAL1	Anosmic Hypogonadism|Dysplasia Olfactogenitalis of De Morsier|Hypogonadotropic Hypogonadism and Anosmia; HHA|KMS			KAL1	Human only
612900	Cerebral Palsy, Spastic Quadriplegic, 2; CPSQ2		Kank1	MGI:2147707	KANK1	Human only
613641	Charcot-Marie-Tooth Disease, Recessive Intermediate B; CMTRIB	Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B; RI-CMTB	Kars	MGI:1934754	KARS	Human only
608207	Kala-Azar, Susceptibility to, 1	Kaza1|Leishmaniasis, Visceral, Susceptibility to, 1			KAZA	Human only
609273	Nemaline Myopathy 6; NEM6		Kbtbd13	MGI:1921742	KBTBD13	Human only
612240	Atrial Fibrillation, Familial, 7; ATFB7		Kcna5	MGI:96662	KCNA5	Human only
605259	Spinocerebellar Ataxia 13; SCA13		Kcnc3	MGI:96669	KCNC3	Human only
612347	Jervell and Lange-Nielsen Syndrome 2; JLNS2		Kcne1	MGI:96673	KCNE1	Human only
613695	Long Qt Syndrome 5; LQT5		Kcne1	MGI:96673	KCNE1	Human only
607554	Atrial Fibrillation, Familial, 3; ATFB3		Kcne2	MGI:1891123	KCNE2	Human only
611493	Atrial Fibrillation, Familial, 4; ATFB4		Kcne2	MGI:1891123	KCNE2	Human only
613693	Long Qt Syndrome 6; LQT6		Kcne2	MGI:1891123	KCNE2	Human only
170400	Hypokalemic Periodic Paralysis, Type 1; HOKPP1	Hypokalemic Periodic Paralysis; HOKPP	Kcne3	MGI:1891124	KCNE3	Human only
170500	Hyperkalemic Periodic Paralysis; HYPP	Adynamia Episodica Hereditaria with or without Myotonia	Kcne3	MGI:1891124	KCNE3	Human only
613119	Brugada Syndrome 6; BRGDA6		Kcne3	MGI:1891124	KCNE3	Human only
613688	Long Qt Syndrome 2; LQT2		Kcnh2	MGI:1341722	KCNH2	Human only
612780	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance; SESAMES	East Syndrome|Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy|Sesame Syndrome	Kcnj10	MGI:1194504	KCNJ10	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Kcnj11	MGI:107501	KCNJ11	Human only
601820	Hyperinsulinemic Hypoglycemia, Familial, 2; HHF2	Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia|Hyperinsulinemic Hypoglycemia, Persistent|Hyperinsulinism, Congenital|Hyperinsulinism, Familial|Hyperinsulinism, Neonatal|Nesidioblastosis|Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI	Kcnj11	MGI:107501	KCNJ11	Human only
606176	Diabetes Mellitus, Permanent Neonatal; PNDM		Kcnj11	MGI:107501	KCNJ11	Human only
610582	Diabetes Mellitus, Transient Neonatal, 3		Kcnj11	MGI:107501	KCNJ11	Human only
193230	Vitreoretinal Degeneration, Snowflake Type; SVD	Snowflake Vitreoretinal Degeneration	Kcnj13	MGI:3781032	KCNJ13	Human only
613239	Thyrotoxic Periodic Paralysis, Susceptibility to, 2; TTPP2				KCNJ18	Human only
170390	Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome|Andersen-Tawil Syndrome; ATS|Long Qt Syndrome 7; LQT7|Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type	Kcnj2	MGI:104744	KCNJ2	Human only
609622	Short Qt Syndrome 3; SQT3		Kcnj2	MGI:104744	KCNJ2	Human only
613485	Long Qt Syndrome 13; LQT13		Kcnj5	MGI:104755	KCNJ5	Human only
613656	Migraine, with or without Aura, Susceptibility to, 13; MGR13		Kcnk18	MGI:2685627	KCNK18	Human only
612292	Birk-Barel Mental Retardation Dysmorphism Syndrome	Birk-Barel Syndrome|Mental Retardation with Hypotonia and Facial Dysmorphism	Kcnk9	MGI:3521816	KCNK9	Human only
609446	Generalized Epilepsy and Paroxysmal Dyskinesia; GEPD	Epilepsy, Generalized, with Paroxysmal Dyskinesia	Kcnma1	MGI:99923	KCNMA1	Human only
608622	Hypertension, Diastolic, Resistance to		Kcnmb1	MGI:1334203	KCNMB1	Human only
607554	Atrial Fibrillation, Familial, 3; ATFB3		Kcnq1	MGI:108083	KCNQ1	Human only
609621	Short Qt Syndrome 2; SQT2		Kcnq1	MGI:108083	KCNQ1	Human only
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	Kcnq1ot1	MGI:1926855	KCNQ1OT1	Human only
613720	Epileptic Encephalopathy, Early Infantile, 7; EIEE7		Kcnq2	MGI:1309503	KCNQ2	Human only
600101	Deafness, Autosomal Dominant 2A; DFNA2A		Kcnq4	MGI:1926803	KCNQ4	Human only
610356	Retinal Cone Dystrophy 3b; RCD3B	Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Kcnv2-Related	Kcnv2	MGI:2670981	KCNV2	Human only
611726	Epilepsy, Progressive Myoclonic 3; EPM3		Kctd7	MGI:2442265	KCTD7	Human only
300534	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type; MRXSCJ	Mental Retardation, X-Linked, Syndromic, Jarid1c-Related; MRXSJ	Kdm5c	MGI:99781	KDM5C	Human only
602089	Hemangioma, Capillary Infantile	HCI|Hemangioma, Hereditary Capillary	Kdr	MGI:96683	KDR	Human only
229800	Fructosuria, Essential	Hepatic Fructokinase Deficiency|Ketohexokinase Deficiency	Khk	MGI:1096353	KHK	Human only
603563	Spastic Paraplegia 8, Autosomal Dominant; SPG8		E430025E21Rik	MGI:2146110	KIAA0196	Human only
600202	Dyslexia, Susceptibility to, 2; DYX2	Reading Disability, Specific, 2	D130043K22Rik	MGI:3036268	KIAA0319	Human only
613647	Spastic Paraplegia 48, Autosomal Recessive; SPG48		C330006K01Rik	MGI:1924908	KIAA0415	Human only
609460	Goldberg-Shprintzen Megacolon Syndrome	GOSHS	2510003E04Rik	MGI:1919570	KIAA1279	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Kif1b	MGI:108426	KIF1B	Human only
256700	Neuroblastoma, Susceptibility to		Kif1b	MGI:108426	KIF1B	Human only
135700	Fibrosis of Extraocular Muscles, Congenital, 1; CFEOM1	Blepharoptosis with Absent Eye Movements|Ophthalmoplegia, Congenital	Kif21a	MGI:109188	KIF21A	Human only
604187	Spastic Paraplegia 10, Autosomal Dominant; SPG10		Kif5a	MGI:109564	KIF5A	Human only
609423	Human Immunodeficiency Virus Type 1, Susceptibility to				KIR3DL1	Human only
612581	Mental Retardation, Autosomal Dominant 4; MRD4		Kirrel3	MGI:1914953	KIRREL3	Human only
176400	Precocious Puberty, Central		Kiss1r	MGI:2148793	KISS1R	Human only
172800	Piebald Trait; PBT	Piebaldism	Kit	MGI:96677	KIT	Human only
273300	Testicular Germ Cell Tumor; TGCT		Kit	MGI:96677	KIT	Human only
601626	Leukemia, Acute Myeloid; AML		Kit	MGI:96677	KIT	Human only
145250	Hyperpigmentation, Familial Progressive, 2; FPH2	Fph|Hpp|Melanosis Universalis Hereditaria; MUH	Kitl	MGI:96974	KITLG	Human only
611664	Skin/Hair/Eye Pigmentation, Variation In, 7; SHEP7	Skin/Hair/Eye Pigmentation 7, Blond/Brown Hair|Skin/Hair/Eye Pigmentation 7, Dark/Light Skin	Kitl	MGI:96974	KITLG	Human only
211900	Tumoral Calcinosis, Hyperphosphatemic, Familial; HFTC	Calcinosis, Tumoral, with Hyperphosphatemia|Cortical Hyperostosis with Hyperphosphatemia|Hyperostosis with Hyperphosphatemia|Hyperostosis-Hyperphosphatemia Syndrome; HHS|Lipocalcinogranulomatosis|Morbus Teutschlaender|Teutschlaender Disease, Familial|Tumoral Calcinosis, Primary Hyperphosphatemic; PHPTC	Kl	MGI:1101771	KL	Human only
613566	Fetal Hemoglobin Quantitative Trait Locus 6; HBFQTL6	Hereditary Persistence of Fetal Hemoglobin, Klf1-Related	Klf1	MGI:1342771	KLF1	Human only
613673	Anemia, Dyserythropoietic Congenital, Type IV; CDAN4		Klf1	MGI:1342771	KLF1	Human only
610508	Maturity-Onset Diabetes of the Young, Type 7; MODY7		Klf11	MGI:2653368	KLF11	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Klf6	MGI:1346318	KLF6	Human only
176807	Prostate Cancer		Klf6	MGI:1346318	KLF6	Human only
236000	Lymphoma, Hodgkin	Hodgkin Disease	Klhdc8b	MGI:1925517	KLHDC8B	Human only
612943	Retinitis Pigmentosa 42; RP42		Klhl7	MGI:1196453	KLHL7	Human only
147910	Kallikrein 1; KLK1	Kallikrein, Renal/Pancreatic/Salivary; KLKR			KLK1	Human only
204700	Amelogenesis Imperfecta, Hypomaturation Type, Iia1; AI2A1	Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1	Klk4	MGI:1861379	KLK4	Human only
612423	Prekallikrein Deficiency	Fletcher Factor Deficiency|Pkk Deficiency	Klkb1	MGI:102849	KLKB1	Human only
228960	High Molecular Weight Kininogen Deficiency	Hmwk Deficiency|Kininogen Deficiency, High Molecular Weight	Kng1	MGI:1097705	KNG1	Human only
109800	Bladder Cancer		Kras	MGI:96680	KRAS	Human only
114480	Breast Cancer		Kras	MGI:96680	KRAS	Human only
115150	Cardiofaciocutaneous Syndrome	CFC Syndrome|Cfcs	Kras	MGI:96680	KRAS	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Kras	MGI:96680	KRAS	Human only
218040	Costello Syndrome	Faciocutaneoskeletal Syndrome	Kras	MGI:96680	KRAS	Human only
609942	Noonan Syndrome 3; NS3		Kras	MGI:96680	KRAS	Human only
612713	Kahrizi Syndrome; KHRZ	Mental Retardation, Cataract, Coloboma, and Kyphosis, Autosomal Recessive			KRIZI	Human only
144200	Palmoplantar Keratoderma, Epidermolytic; EPPK	Hyperkeratosis, Localized Epidermolytic|Keratoderma, Epidermolytic Palmoplantar|Keratosis Palmaris Et Plantaris Familiaris|Palmoplantar Keratoderma, Vorner Type|Tylosis	Krt1	MGI:96698	KRT1	Human only
146590	Ichthyosis Hystrix, Curth-Macklin Type; IHCM		Krt1	MGI:96698	KRT1	Human only
148700	Keratosis Palmoplantaris Striata I; PPKS1	Keratoderma, Palmoplantar, Striate Form I; KPPS1|Striate Palmoplantar Keratoderma I; SPPK1	Krt1	MGI:96698	KRT1	Human only
600962	Palmoplantar Keratoderma, Nonepidermolytic; NEPPK	Keratoderma, Nonepidermolytic Palmoplantar|Nonepidermolytic Palmoplantar Keratoderma|Tylosis	Krt1	MGI:96698	KRT1	Human only
607602	Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	CIEHK|Epidermolytic Ichthyosis, Annular; AEI	Krt1	MGI:96698	KRT1	Human only
607654	Keratosis Palmoplantaris Striata III; PPKS3	Keratoderma, Palmoplantar, Striate Form III; KPPS3|Striate Palmoplantar Keratoderma III; SPPK3	Krt1	MGI:96698	KRT1	Human only
607602	Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	CIEHK|Epidermolytic Ichthyosis, Annular; AEI	Krt10	MGI:96685	KRT10	Human only
609165	Erythroderma, Ichthyosiform, Congenital Reticular; CRIE	Erythrokeratodermia, Reticular|Ichthyosis with Confetti; IWC	Krt10	MGI:96685	KRT10	Human only
122100	Corneal Dystrophy, Meesmann; MECD	Corneal Dystrophy, Juvenile Epithelial, of Meesmann|Corneal Dystrophy, Meesmann Epithelial|Meesmann Corneal Dystrophy	Krt12	MGI:96687	KRT12	Human only
193900	White Sponge Nevus; WSN	Leukokeratosis, Hereditary Mucosal|White Sponge Nevus of Cannon	Krt13	MGI:101925	KRT13	Human only
125595	Dermatopathia Pigmentosa Reticularis; DPR		Krt14	MGI:96688	KRT14	Human only
131800	Epidermolysis Bullosa Simplex, Localized	EBS, Acral Form|Epidermolysis Bullosa of Hands and Feet|Epidermolysis Bullosa Simplex, Weber-Cockayne Type	Krt14	MGI:96688	KRT14	Human only
131900	Epidermolysis Bullosa Simplex, Generalized	EBS, Generalized|Epidermolysis Bullosa Simplex, Koebner Type	Krt14	MGI:96688	KRT14	Human only
161000	Naegeli Syndrome	Naegeli-Franceschetti-Jadassohn Syndrome|Nfj Syndrome; NFJS	Krt14	MGI:96688	KRT14	Human only
144200	Palmoplantar Keratoderma, Epidermolytic; EPPK	Hyperkeratosis, Localized Epidermolytic|Keratoderma, Epidermolytic Palmoplantar|Keratosis Palmaris Et Plantaris Familiaris|Palmoplantar Keratoderma, Vorner Type|Tylosis	Krt16	MGI:96690	KRT16	Human only
167200	Pachyonychia Congenita, Type 1; PC1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Krt16	MGI:96690	KRT16	Human only
600962	Palmoplantar Keratoderma, Nonepidermolytic; NEPPK	Keratoderma, Nonepidermolytic Palmoplantar|Nonepidermolytic Palmoplantar Keratoderma|Tylosis	Krt16	MGI:96690	KRT16	Human only
613000	Palmoplantar Keratoderma, Nonepidermolytic, Focal; FNEPPK	Focal Nonepidermolytic Palmoplantar Keratoderma|Keratoderma, Focal Nonepidermolytic Palmoplantar	Krt16	MGI:96690	KRT16	Human only
184500	Steatocystoma Multiplex	Sebaceous Cysts, Multiple	Krt17	MGI:96691	KRT17	Human only
215600	Cirrhosis, Familial		Krt18	MGI:96692	KRT18	Human only
122100	Corneal Dystrophy, Meesmann; MECD	Corneal Dystrophy, Juvenile Epithelial, of Meesmann|Corneal Dystrophy, Meesmann Epithelial|Meesmann Corneal Dystrophy			KRT3	Human only
131800	Epidermolysis Bullosa Simplex, Localized	EBS, Acral Form|Epidermolysis Bullosa of Hands and Feet|Epidermolysis Bullosa Simplex, Weber-Cockayne Type	Krt5	MGI:96702	KRT5	Human only
131900	Epidermolysis Bullosa Simplex, Generalized	EBS, Generalized|Epidermolysis Bullosa Simplex, Koebner Type	Krt5	MGI:96702	KRT5	Human only
131960	Epidermolysis Bullosa Simplex with Mottled Pigmentation; EBS-MP	Speckled Hyperpigmentation with Punctate Palmoplantar Keratoses and Childhood Blistering	Krt5	MGI:96702	KRT5	Human only
179850	Dowling-Degos Disease; DDD	Dowling-Degos-Kitamura Disease|Kitamura Reticulate Acropigmentation|Reticular Pigment Anomaly of Flexures|Reticulate Acropigmentation of Kitamura	Krt5	MGI:96702	KRT5	Human only
609352	Epidermolysis Bullosa Simplex with Migratory Circinate Erythema		Krt5	MGI:96702	KRT5	Human only
167200	Pachyonychia Congenita, Type 1; PC1	Pachyonychia Congenita, Jadassohn-Lewandowsky Type	Krt6a	MGI:1100845	KRT6A	Human only
194300	Woolly Hair, Autosomal Dominant; ADWH		Krt74	MGI:3629975	KRT74	Human only
612318	Pseudofolliculitis Barbae	Ingrown Hairs|Pfb|Pili Incarnati	Krt75	MGI:1923500	KRT75	Human only
215600	Cirrhosis, Familial		Krt8	MGI:96705	KRT8	Human only
158000	Monilethrix		Krt81	MGI:1928858	KRT81	Human only
158000	Monilethrix		Krt83	MGI:3665486	KRT83	Human only
602032	Ectodermal Dysplasia, 'pure' Hair-Nail Type		Krt85	MGI:1859268	KRT85	Human only
158000	Monilethrix		Krt86	MGI:109362	KRT86	Human only
144200	Palmoplantar Keratoderma, Epidermolytic; EPPK	Hyperkeratosis, Localized Epidermolytic|Keratoderma, Epidermolytic Palmoplantar|Keratosis Palmaris Et Plantaris Familiaris|Palmoplantar Keratoderma, Vorner Type|Tylosis	Krt9	MGI:96696	KRT9	Human only
608932	Keratoconus 2; KTCN2				KTCN2	Human only
608586	Keratoconus 3; KTCN3				KTCN3	Human only
609271	Keratoconus 4; KTCN4				KTCN4	Human only
149000	Klippel-Trenaunay-Weber Syndrome	Angioosteohypertrophy Syndrome|Klippel-Trenaunay Syndrome; KTS|KTW Syndrome			KTWS	Human only
148370	Keratolytic Winter Erythema	KWE|Oudtshoorn Skin			KWE	Human only
236800	Hydroxykynureninuria	Kynureninase Deficiency|Xanthurenic Aciduria	Kynu	MGI:1918039	KYNU	Human only
610170	Kyphoscoliosis 1				KYPSC1	Human only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	L1cam	MGI:96721	L1CAM	Human only
307000	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius; HSAS	HSAS1|Hydrocephalus, X-Linked; HYCX	L1cam	MGI:96721	L1CAM	Human only
304100	Corpus Callosum, Partial Agenesis of, X-Linked		L1cam	MGI:96721	L1CAM	Human only
236792	L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia	L2hgdh	MGI:2384968	L2HGDH	Human only
247640	Lymphoblastic Leukemia, Acute, with Lymphomatous Features; LALL	Lymphomatous ALL			LALL	Human only
226700	Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Junctionalis, Herlitz Type|Epidermolysis Bullosa Letalis|Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type|Herlitz-Pearson-Type Epidermolysis Bullosa|Jeb-Herlitz Type	Lama3	MGI:99909	LAMA3	Human only
245660	Laryngoonychocutaneous Syndrome; LOCS	Logic Syndrome	Lama3	MGI:99909	LAMA3	Human only
176780	Pelvic Organ Prolapse, Susceptibility to	Prolapse of Vagina and Rectum|Rectal Prolapse	Lamc1	MGI:99914	LAMC1	Human only
610798	Immunodeficiency Due to Defect in Mapbp-Interacting Protein		Lamtor2	MGI:1932697	LAMTOR2	Human only
150270	Laryngeal Adductor Paralysis; LAP	Vocal Cord Dysfunction, Adductor Type			LAP	Human only
236670	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1	Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|COD-MD Syndrome|HARD Syndrome|Hydrocephalus, Agyria, and Retinal Dysplasia|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related	Large	MGI:1342270	LARGE	Human only
601086	Laterality Defects, Autosomal Dominant				LATD	Human only
215140	Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia	Chondrodystrophy, Hydropic and Prenatally Lethal Type|Greenberg Dysplasia|HEM Skeletal Dysplasia|Moth-Eaten Skeletal Dysplasia	Lbr	MGI:2138281	LBR	Human only
613471	Reynolds Syndrome	Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, and Telangiectasia	Lbr	MGI:2138281	LBR	Human only
608553	Leber Congenital Amaurosis 9; LCA9				LCA9	Human only
303700	Blue Cone Monochromacy; BCM	Blue Cone Monochromatism			LCR-OPSIN	Human only
604131	Alpha-Thalassemia				LCRB	Human only
214900	Cholestasis-Lymphedema Syndrome	Aagenaes Syndrome|CHLS|Lymphedema-Cholestasis Syndrome; LCS; LCS1			LCS1	Human only
223000	Lactase Deficiency, Congenital	Alactasia, Congenital|Disaccharide Intolerance II	Lct	MGI:104576	LCT	Human only
223100	Lactose Intolerance, Adult Type	Adult Lactase Deficiency|Hypolactasia, Adult Type	Lct	MGI:104576	LCT	Human only
609452	Myopathy, Myofibrillar, 4; MFM4	Myopathy, Myofibrillar, Zasp-Related	Ldb3	MGI:1344412	LDB3	Human only
612933	Glycogen Storage Disease XI; GSD11	Gsd XI|Lactate Dehydrogenase A Deficiency	Ldha	MGI:96759	LDHA	Human only
606945	Low Density Lipoprotein Receptor; LDLR		Ldlr	MGI:96765	LDLR	Human only
300778	Corneal Dystrophy, Lisch Epithelial; LECD	Band-Shaped and Whorled Microcystic Corneal Epithelial Dystrophy|Lisch Epithelial Corneal Dystrophy			LECD	Human only
153245	Lymphoid Enhancer-Binding Factor 1; LEF1	Transcription Factor, T Cell-Specific, 1, Alpha	Lef1	MGI:96770	LEF1	Human only
601877	Left-Right Determination Factor 2; LEFTY2	Endometrial Bleeding-Associated Factor; EBAF|Left-Right Determination, Factor A; LEFTA|Lefty A|Lefty2, Mouse, Homolog of	Lefty2	MGI:2443573	LEFTY2	Human only
155950	Melorheostosis, Isolated	Mel	Lemd3	MGI:3580376	LEMD3	Human only
166700	Buschke-Ollendorff Syndrome; BOS	Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis|Dermatofibrosis, Disseminated, with Osteopoikilosis|Dermatoosteopoikilosis	Lemd3	MGI:3580376	LEMD3	Human only
164160	Leptin; LEP		Lep	MGI:104663	LEP	Human only
601007	Leptin Receptor; LEPR		Lepr	MGI:104993	LEPR	Human only
609813	Spondylocostal Dysostosis 3, Autosomal Recessive; SCDO3		Lfng	MGI:1095413	LFNG	Human only
609266	Li-Fraumeni Syndrome 3; LFS3				LFS3	Human only
137800	Glioma Susceptibility 1; GLM1		Lgi1	MGI:1861691	LGI1	Human only
609940	Myopathy, Limb-Girdle, with Bone Fragility				LGMBF	Human only
603511	Muscular Dystrophy, Limb-Girdle, Type 1E; LGMD1E				LGMD1D	Human only
608423	Muscular Dystrophy, Limb-Girdle, Type 1F; LGMD1F				LGMD1F	Human only
609115	Limb-Girdle Muscular Dystrophy, Type 1G; LGMD1G				LGMD1G	Human only
613530	Muscular Dystrophy, Limb-Girdle, Type 1H; LGMD1H				LGMD1H	Human only
181500	Schizophrenia; SCZD		Lgr4	MGI:1891468	LGR4	Human only
152780	Luteinizing Hormone, Beta Polypeptide; LHB	Interstitial Cell Stimulating Hormone, Beta Chain|Lutropin, Beta Chain	Lhb	MGI:96782	LHB	Human only
176410	Precocious Puberty, Male-Limited	Sexual Precocity, Familial, Gonadotropin-Independent	Lhcgr	MGI:96783	LHCGR	Human only
238320	Leydig Cell Hypoplasia, Type I	Leydig Cell Hypoplasia with Male Pseudohermaphroditism|Leydig Cell Hypoplasia, Complete	Lhcgr	MGI:96783	LHCGR	Human only
610265	Deafness, Autosomal Recessive 67; DFNB67		Lhfpl5	MGI:1915382	LHFPL5	Human only
262600	Pituitary Hormone Deficiency, Combined, 2; CPHD2	Ateliotic Dwarfism with Hypogonadism|Hanhart Dwarfism|Panhypopituitarism|Pituitary Dwarfism III	Lhx3	MGI:102673	LHX3	Human only
262700	Pituitary Hormone Deficiency, Combined, 4; CPHD4	Pituitary Hormone Deficiency, Combined, with or without Cerebellar Defects|Short Stature, Pituitary and Cerebellar Defects, and Small Sella Turcica	Lhx4	MGI:101776	LHX4	Human only
606545	Ichthyosis, Lamellar, 5; LI5	Lamellar Ichthyosis, Type 5			LI5	Human only
601559	Stuve-Wiedemann Syndrome	Schwartz-Jampel Syndrome, Neonatal|Schwartz-Jampel Syndrome, Type 2; SJS2|Stuve-Wiedemann/Schwartz-Jampel Type 2 Syndrome|STWS; SWS	Lifr	MGI:96788	LIFR	Human only
254500	Myeloma, Multiple		Lig4	MGI:1335098	LIG4	Human only
154045	Lens Intrinsic Membrane Protein 2, 19-Kd; LIM2	Mp19	Lim2	MGI:104698	LIM2	Human only
161400	Narcolepsy 1; NRCLP1				LINC00163	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Lipc	MGI:96216	LIPC	Human only
612797	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12; HDLCQ12		Lipc	MGI:96216	LIPC	Human only
604379	Hypotrichosis 7; HYPT7	Hypotrichosis, Autosomal Recessive; AH|Hypotrichosis, Localized, Autosomal Recessive 2; LAH2	Liph	MGI:2388029	LIPH	Human only
145750	Hypertriglyceridemia, Familial		Lipi	MGI:2443868	LIPI	Human only
601098	Charcot-Marie-Tooth Disease, Demyelinating, Type 1C; CMT1C	Charcot-Marie-Tooth Neuropathy, Type 1c Neuropathy, Hereditary Motor and Sensory, Type IC|CMT, Slow Nerve Conduction Type C|HMSN IC|HMSN1C	Litaf	MGI:1929512	LITAF	Human only
300660	Leukoencephalopathy with Metaphyseal Chondrodysplasia; LKMCD				LKMCD	Human only
227300	Factor V and Factor VIII, Combined Deficiency of, 1; F5F8D1	Familial Multiple Coagulation Factor Deficiency I; FMFD1|Fmfd I|Multiple Coagulation Factor Deficiency I; MCFD1	Lman1	MGI:1917611	LMAN1	Human only
174500	Polydactyly, Preaxial II; PPD2	Polydactyly of Triphalangeal Thumb	Lmbr1	MGI:1861746	LMBR1	Human only
186200	Syndactyly, Type IV	Haas Type Syndactyly|Polysyndactyly, Haas Type|Sd4|Sdty4	Lmbr1	MGI:1861746	LMBR1	Human only
277380	Methylmalonic Aciduria and Homocystinuria, CblF Type	Cobalamin F Disease; CBLF|Cobalamin, Defect in Lysosomal Release of|Methylmalonic Acidemia and Homocystinuria, Cblf Type|Methylmalonic Aciduria Due to Vitamin B12-Release Defect|Vitamin B12 Lysosomal Release Defect|Vitamin B12 Storage Disease	Lmbrd1	MGI:1915671	LMBRD1	Human only
246650	Lipase Deficiency, Combined	Lipoprotein Lipase Deficiency with Hepatic Triglyceride Lipase Deficiency|Lpl and HL Deficiency|Lpl and HTGL Deficiency	Lmf1	MGI:1923733	LMF1	Human only
151660	Lipodystrophy, Familial Partial, Type 2; FPLD2	FPL2|Lipoatrophic Diabetes|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Reverse Partial	Lmna	MGI:96794	LMNA	Human only
159001	Muscular Dystrophy, Limb-Girdle, Type 1B; LGMD1B	Muscular Dystrophy, Proximal, Type 1B	Lmna	MGI:96794	LMNA	Human only
248370	Mandibuloacral Dysplasia with Type A Lipodystrophy; MADA	Lipodystrophy, Type A, Associated with Mandibuloacral Dysplasia	Lmna	MGI:96794	LMNA	Human only
275210	Restrictive Dermopathy, Lethal	Fetal Hypokinesia Sequence Due to Restrictive Dermopathy|Hyperkeratosis-Contracture Syndrome|Tight Skin Contracture Syndrome, Lethal	Lmna	MGI:96794	LMNA	Human only
277700	Werner Syndrome; WRN		Lmna	MGI:96794	LMNA	Human only
610140	Heart-Hand Syndrome, Slovenian Type		Lmna	MGI:96794	LMNA	Human only
613205	Muscular Dystrophy, Congenital, Lmna-Related	Mdcl	Lmna	MGI:96794	LMNA	Human only
169500	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant; ADLD	Pelizaeus-Merzbacher Disease, Autosomal Dominant or Late-Onset Type, Formerly	Lmnb1	MGI:96795	LMNB1	Human only
608709	Lipodystrophy, Partial, Acquired, Susceptibility To; APLD	Apld, Susceptibility to|Barraquer-Simons Syndrome|Lipodystrophy, Cephalothoracic Type|Lipodystrophy, Partial, Progressive	Lmnb2	MGI:96796	LMNB2	Human only
611944	Lymphedema, Hereditary, IB	Lmph1b			LMPH1B	Human only
137750	Glaucoma 1, Open Angle, A; GLC1A		Lmx1b	MGI:1100513	LMX1B	Human only
608935	Lung Cancer Susceptibility 1; LNCR1				LNCR1	Human only
612571	Lung Cancer Susceptibility 3; LNCR3	Adenocarcinoma of Lung, Susceptibility to			LNCR3	Human only
612593	Lung Cancer Susceptibility 4; LNCR4				LNCR4	Human only
308905	Leber Optic Atrophy, Susceptibility to	Leber Hereditary Optic Neuropathy, Modifier of|Lhon, Modifier of|Loas			LOAS	Human only
612421	Alopecia, Androgenetic, 3; AGA3				LOC100270679	Human only
109800	Bladder Cancer				LOC100270680	Human only
609456	Muscular Dystrophy, Congenital, Merosin-Positive				LOC619409	Human only
608970	Macular Dystrophy, Butterfly-Shaped Pigmentary, 2				LOC619480	Human only
151001	Lentiginosis, Inherited Patterned	Lentiginosis Profusa|Lentiginosis, Diffuse|Lentiginosis, Generalized			LOC619539	Human only
148600	Keratoderma, Palmoplantar, Punctate Type I; PPKP1	Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type|Keratosis Palmoplantaris Papulosa|Kppp1			LOC619540	Human only
133200	Erythrokeratodermia Variabilis Et Progressiva; EKVP	Erythrokeratodermia Figurata, Congenital Familial, in Plaques|Erythrokeratodermia Variabilis; EKV|Erythrokeratodermia, Progressive Symmetric; PSEK	Lor	MGI:96816	LOR	Human only
604117	Vohwinkel Syndrome, Variant Form	Loricrin Keratoderma|Mutilating Keratoderma with Ichthyosis|Vohwinkel Syndrome with Ichthyosis	Lor	MGI:96816	LOR	Human only
219100	Cutis Laxa, Autosomal Recessive, Type IA; ARCL1A	Arcl1|Cutis Laxa, Autosomal Recessive	Lox	MGI:96817	LOX	Human only
613079	Deafness, Autosomal Recessive 77; DFNB77		Loxhd1	MGI:1914609	LOXHD1	Human only
177650	Exfoliation Syndrome; XFS	Exfoliation Glaucoma; XFG|Pseudoexfoliation Glaucoma; PEXG|Pseudoexfoliation of the Lens|Pseudoexfoliation Syndrome; PEXS	Loxl1	MGI:106096	LOXL1	Human only
152200	Apolipoprotein(a); LPA				LPA	Human only
278150	Hypotrichosis 8; HYPT8		Lpar6	MGI:1914418	LPAR6	Human only
268200	Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Familial Paroxysmal Paralytic|Rhabdomyolysis, Acute Recurrent	Lpin1	MGI:1891340	LPIN1	Human only
609628	Majeed Syndrome	Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis	Lpin2	MGI:1891341	LPIN2	Human only
609708	Lipoprotein Lipase; LPL		Lpl	MGI:96820	LPL	Human only
601626	Leukemia, Acute Myeloid; AML		Lpp	MGI:2441849	LPP	Human only
609888	Leprosy, Susceptibility to, 1; LPRS1	Leprosy, Paucibacillary Type, Susceptibility to, 1			LPRS1	Human only
613407	Leprosy, Susceptibility to, 6; LPRS6				LPRS6	Human only
613341	Leber Congenital Amaurosis 14; LCA14		Lrat	MGI:1891259	LRAT	Human only
144750	Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus	Endosteal Hyperostosis, Autosomal Dominant|Osteosclerosis, Autosomal Dominant	Lrp5	MGI:1278315	LRP5	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Lrp5	MGI:1278315	LRP5	Human only
601813	Exudative Vitreoretinopathy 4; EVR4		Lrp5	MGI:1278315	LRP5	Human only
607634	Osteopetrosis, Autosomal Dominant 1; OPTA1	Osteopetrosis, Autosomal Dominant, Type I	Lrp5	MGI:1278315	LRP5	Human only
607636	Van Buchem Disease, Type 2	VBCH2	Lrp5	MGI:1278315	LRP5	Human only
610947	Coronary Artery Disease, Autosomal Dominant 2; ADCAD2		Lrp6	MGI:1298218	LRP6	Human only
608446	Myocardial Infarction, Susceptibility to		Lrp8	MGI:1340044	LRP8	Human only
220111	Leigh Syndrome, French Canadian Type; LSFC	Cox Deficiency, French Canadian Type|Cox Deficiency, Saguenay-Lac-Saint-Jean Type|Cytochrome C Oxidase Deficiency, French Canadian Type|Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Lrpprc	MGI:1919666	LRPPRC	Human only
613506	Agammaglobulinemia 5, Autosomal Dominant; AGM5	Agammaglobulinemia, Autosomal Dominant, Due to Lrrc8a Defect	Lrrc8a	MGI:2652847	LRRC8A	Human only
607060	Parkinson Disease 8, Autosomal Dominant; PARK8		Lrrk2	MGI:1913975	LRRK2	Human only
608545	Larsen-Like Syndrome	LRSL			LRSL	Human only
607507	Psoriatic Arthritis, Susceptibility to Psoriatic Arthritis, Susceptibility to, 1; PSORAS1		Lta	MGI:104797	LTA	Human only
610988	Leprosy, Susceptibility to, 4; LPRS4		Lta	MGI:104797	LTA	Human only
613086	Glaucoma 3, Primary Congenital, D; GLC3D		Ltbp2	MGI:99502	LTBP2	Human only
613097	Tooth Agenesis, Selective, 6; STHAG6		Ltbp3	MGI:1101355	LTBP3	Human only
613177	Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities	Urban-Rifkin-Davis Syndrome; URDS	Ltbp4	MGI:1321395	LTBP4	Human only
609470	Left Ventricular Noncompaction 2; LVNC2				LVNC2	Human only
105200	Amyloidosis, Familial Visceral	Amyloidosis VIII|Amyloidosis, Familial Renal|Amyloidosis, Systemic Nonneuropathic|German Type Amyloidosis|Ostertag Type Amyloidosis			LYZ	Human only
133239	Esophageal Cancer		Lzts1	MGI:2684762	LZTS1	Human only
157300	Migraine with or without Aura, Susceptibility to, 1	MGAU; MA|MGR1|Migraine			MA	Human only
309800	Microphthalmia, Syndromic 1; MCOPS1	Lenz Dysplasia|Lenz Microphthalmia Syndrome|Maa, Formerly			MAA	Human only
602499	Macrophthalmia, Colobomatous, with Microcornea; MACOM				MACOM	Human only
613545	Macrostomia, Isolated	Commissural Cleft, Isolated|Lateral Cleft, Isolated|Transverse Cleft, Isolated			MACST	Human only
176807	Prostate Cancer		Mad1l1	MGI:1341857	MAD1L1	Human only
125480	Major Affective Disorder 1; MAFD1	Bipolar Affective Disorder; BPAD|Manic-Depressive Psychosis, Autosomal|Manic-Depressive Psychosis; MD1			MAFD1	Human only
309200	Major Affective Disorder 2; MAFD2	Bipolar Affective Disorder; BPAD|Manic-Depressive Illness; MDI|Manic-Depressive Psychosis, X-Linked; MDX			MAFD2	Human only
609633	Major Affective Disorder 3; MAFD3	Bipolar Affective Disorder, Early-Onset; BPEO			MAFD3	Human only
611247	Major Affective Disorder 4; MAFD4	Bipolar Affective Disorder; BPAD			MAFD4	Human only
611535	Major Affective Disorder 5; MAFD5	Bipolar Affective Disorder; BPAD			MAFD5	Human only
611536	Major Affective Disorder 6; MAFD6	Bipolar Affective Disorder; BPAD			MAFD6	Human only
612357	Major Affective Disorder 8; MAFD8	Bipolar Affective Disorder			MAFD8	Human only
612372	Major Affective Disorder 9; MAFD9	Bipolar Affective Disorder			MAFD9	Human only
300716	Mental Retardation, X-Linked 95; MRX95		Magt1	MGI:1914325	MAGT1	Human only
300633	Hypospadias 1, X-Linked; HYSP1		Mamld1	MGI:3045303	MAMLD1	Human only
300758	Hypospadias 2, X-Linked; HYSP2		Mamld1	MGI:3045303	MAMLD1	Human only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Manf	MGI:1922090	MANF	Human only
115150	Cardiofaciocutaneous Syndrome	CFC Syndrome|Cfcs	Map2k1	MGI:1346866	MAP2K1	Human only
115150	Cardiofaciocutaneous Syndrome	CFC Syndrome|Cfcs	Map2k2	MGI:1346867	MAP2K2	Human only
211980	Lung Cancer		Map3k8	MGI:1346878	MAP3K8	Human only
606369	Epileptic Encephalopathy, Lennox-Gastaut Type	Encephalopathy of Childhood	Mapk10	MGI:1346863	MAPK10	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Mapk8ip1	MGI:1309464	MAPK8IP1	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Mapt	MGI:97180	MAPT	Human only
172700	Pick Disease of Brain	Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions|Lobar Atrophy of Brain	Mapt	MGI:97180	MAPT	Human only
260540	Parkinson-Dementia Syndrome		Mapt	MGI:97180	MAPT	Human only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Mapt	MGI:97180	MAPT	Human only
601104	Supranuclear Palsy, Progressive, 1; PSNP1	Psp|Steele-Richardson-Olszewski Syndrome	Mapt	MGI:97180	MAPT	Human only
610153	Deafness, Autosomal Recessive 49; DFNB49		Marveld2	MGI:2446166	MARVELD2	Human only
613791	Masp2 Deficiency		Masp2	MGI:1330832	MASP2	Human only
188000	Thrombocytopenia 2; THC2	Thrombocytopenia, Autosomal Dominant, 2	Mastl	MGI:1914371	MASTL	Human only
140600	Osteoarthritis Susceptibility 2; OS2	Dipoa|OADIP|Osteoarthritis of Distal Interphalangeal Joints	Matn3	MGI:1328350	MATN3	Human only
607850	Osteoarthritis Susceptibility 3; OS3	Osteoarthritis of Knee/Hip	Matn3	MGI:1328350	MATN3	Human only
608728	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	SEMD, MATN3-Related	Matn3	MGI:1328350	MATN3	Human only
606070	Myopathy, Distal, 2; MPD2	Vocal Cord and Pharyngeal Dysfunction with Distal Myopathy; VCPDM	Matr3	MGI:1298379	MATR3	Human only
156200	Mental Retardation, Autosomal Dominant 1; MRD1		Mbd5	MGI:2138934	MBD5	Human only
157900	Moebius Syndrome; MBS	Mobius Syndrome; MBS|Moebius Sequence			MBS1	Human only
601471	Facial Paresis, Hereditary, Congenital; HCFP1	Facial Palsy, Congenital, Unilateral or Bilateral|Mobius Syndrome 2, Formerly|Moebius Syndrome 2, Formerly; MBS2, FORMERLY			MBS2	Human only
604185	Facial Paresis, Hereditary, Congenital; HCFP2	Mobius Syndrome 3, Formerly|Moebius Syndrome 3, Formerly; MBS3, FORMERLY			MBS3	Human only
308205	Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome	IFAP Syndrome	Mbtps2	MGI:2444506	MBTPS2	Human only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM	Mc1r	MGI:99456	MC1R	Human only
203200	Albinism, Oculocutaneous, Type II; OCA2	Oculocutaneous Albinism, Type II|Oculocutaneous Albinism, Tyrosinase-Positive	Mc1r	MGI:99456	MC1R	Human only
226300	Enteropathy, Protein-Losing		Mc1r	MGI:99456	MC1R	Human only
613099	Melanoma, Cutaneous Malignant, Susceptibility to, 5; CMM5		Mc1r	MGI:99456	MC1R	Human only
602025	Body Mass Index Quantitative Trait Locus 9; BMIQ9	Obesity, Susceptibility to	Mc3r	MGI:96929	MC3R	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Mc3r	MGI:96929	MC3R	Human only
210200	3-methylcrotonyl-Coa Carboxylase 1 Deficiency	3-methylcrotonylglycinuria I|MCC1 Deficiency|Mccd Type 1|Methylcrotonylglycinuria Type I	Mccc1	MGI:1919289	MCCC1	Human only
210210	3-methylcrotonyl-Coa Carboxylase 2 Deficiency	3-methylcrotonylglycinuria II|MCC2 Deficiency|Methylcrotonylglycinuria, Type II	Mccc2	MGI:1925288	MCCC2	Human only
136550	Macular Dystrophy, Retinal, 1, North Carolina Type; MCDR1	Central Areolar Pigment Epithelial Dystrophy; CAPED|Foveal Dystrophy, Progressive|North Carolina Macular Dystrophy; NCMD|Retinal Pigment Epithelial Dystrophy, Central			MCDR1	Human only
608850	Macular Dystrophy, Retinal, 3	Mcdr3			MCDR3	Human only
251120	Methylmalonyl-Coa Epimerase Deficiency	Methylmalonyl-Coa Racemase Deficiency	Mcee	MGI:1920974	MCEE	Human only
227300	Factor V and Factor VIII, Combined Deficiency of, 1; F5F8D1	Familial Multiple Coagulation Factor Deficiency I; FMFD1|Fmfd I|Multiple Coagulation Factor Deficiency I; MCFD1	Mcfd2	MGI:2183439	MCFD2	Human only
613625	Factor V and Factor VIII, Combined Deficiency of, 2; F5F8D2		Mcfd2	MGI:2183439	MCFD2	Human only
608557	Myocardial Infarction, Susceptibility to, 2	MCI2			MCI2	Human only
174000	Medullary Cystic Kidney Disease 1; MCKD1	MCKD|Medullary Cystic Kidney Disease, Autosomal Dominant; ADMCKD1|Polycystic Kidneys, Medullary Type			MCKD1	Human only
223100	Lactose Intolerance, Adult Type	Adult Lactase Deficiency|Hypolactasia, Adult Type	Mcm6	MGI:1298227	MCM6	Human only
251600	Microphthalmia, Isolated 1; MCOP1	Anophthalmia, Clinical, Isolated|MCOP|Microphthalmos, Autosomal Recessive			MCOP	Human only
156600	Microcoria, Congenital	MCOR|Miosis, Congenital			MCOR	Human only
251200	Microcephaly 1, Primary, Autosomal Recessive; MCPH1	Pcc Syndrome|Premature Chromosome Condensation Syndrome|Premature Chromosome Condensation with Microcephaly and Mental Retardation			MCPH4	Human only
604321	Microcephaly 4, Primary, Autosomal Recessive; MCPH4				MCPH4	Human only
309605	Miles-Carpenter X-Linked Mental Retardation Syndrome; MCS	Mental Retardation, X-Linked, Syndromic 4; MRXS4|Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches			MCS	Human only
604801	Muscular Dystrophy, Congenital, 1B; MDC1B				MDC1B	Human only
608516	Major Depressive Disorder; MDD				MDD1	Human only
608520	Major Depressive Disorder 1	MDD1|Unipolar Depression 1			MDD1	Human only
608516	Major Depressive Disorder; MDD				MDD2	Human only
608691	Major Depressive Disorder 2	MDD2|Unipolar Depression 2			MDD2	Human only
613689	Mammary-Digital-Nail Syndrome; MDNS				MDNS	Human only
601846	Vacuolar Neuromyopathy	Muscular Dystrophy, Autosomal Dominant, with Rimmed Vacuoles; MDRV			MDRV	Human only
600669	Epilepsy, Idiopathic Generalized; EIG		Me2	MGI:2147351	ME2	Human only
610064	Opioid Dependence, Susceptibility to, 1	Ods1	Me2	MGI:2147351	ME2	Human only
105830	Angelman Syndrome; AS		Mecp2	MGI:99918	MECP2	Human only
300055	Mental Retardation, X-Linked, Syndromic 13; MRXS13	Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism; PPMX|Mental Retardation, X-Linked 16; MRX16|Mental Retardation, X-Linked 79; MRX79|Mental Retardation, X-Linked, with Spasticity	Mecp2	MGI:99918	MECP2	Human only
300260	Lubs X-Linked Mental Retardation Syndrome; MRXSL	Mecp2 Duplication Syndrome|Mental Retardation, X-Linked, Syndromic, Lubs Type|Mental Retardation, X-Linked, with Recurrent Respiratory Infections	Mecp2	MGI:99918	MECP2	Human only
300496	Autism, Susceptibility to, X-Linked 3; AUTSX3		Mecp2	MGI:99918	MECP2	Human only
300673	Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations		Mecp2	MGI:99918	MECP2	Human only
305450	Opitz-Kaveggia Syndrome; OKS	Fg Syndrome 1; FGS1|Fg Syndrome; FGS|Keller Syndrome|Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum	Med12	MGI:1926212	MED12	Human only
309520	Lujan-Fryns Syndrome	Mental Retardation, X-Linked, with Marfanoid Habitus	Med12	MGI:1926212	MED12	Human only
608808	Transposition of the Great Arteries, Dextro-Looped 1; DTGA1	D-TGA	Med13l	MGI:2670178	MED13L	Human only
613668	Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy		Med17	MGI:2182585	MED17	Human only
605589	Charcot-Marie-Tooth Disease, Axonal, Type 2B2; CMT2B2	ARCMT2B|Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2|Charcot-Marie-Tooth Disease, Neuronal, Type 2B2|Charcot-Marie-Tooth Neuropathy, Type 2B2	Med25	MGI:1922863	MED25	Human only
608320	Coronary Artery Disease, Autosomal Dominant, 1; ADCAD1	Coronary Artery Disease with Myocardial Infarction	Mef2a	MGI:99532	MEF2A	Human only
613443	Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations	Chromosome 5q14.3 Deletion Syndrome	Mef2c	MGI:99458	MEF2C	Human only
134610	Familial Mediterranean Fever, Autosomal Dominant	Fmf, Autosomal Dominant	Mefv	MGI:1859396	MEFV	Human only
300148	Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity; MEHMO	Mental Retardation, X-Linked, Syndromic 20; MRXS20|Mental Retardation, X-Linked, Syndromic 25; MRXS25			MEHMO	Human only
268000	Retinitis Pigmentosa; RP		Mertk	MGI:96965	MERTK	Human only
608681	Spondylocostal Dysostosis 2, Autosomal Recessive; SCDO2		Mesp2	MGI:1096325	MESP2	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Met	MGI:96969	MET	Human only
605074	Renal Cell Carcinoma, Papillary, 1; RCCP1		Met	MGI:96969	MET	Human only
611014	Hypertension, Essential, Susceptibility to, 8; HYT8		Mex3c	MGI:2652843	MEX3C	Human only
309630	Metacarpal 4-5 Fusion; MF4				MF4	Human only
601152	Hereditary Motor and Sensory Neuropathy VI	Charcot-Marie-Tooth Disease, Type 6; CMT6|HMSN VI|HMSN6|Peripheral Neuropathy and Optic Atrophy	Mfn2	MGI:2442230	MFN2	Human only
609260	Charcot-Marie-Tooth Disease, Axonal, Type 2A2; CMT2A2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2|Charcot-Marie-Tooth Disease, Neuronal, Type 2A2|Charcot-Marie-Tooth Neuropathy, Type 2A2|Hereditary Motor and Sensory Neuropathy Iia2; HMSN2A2|HMSN IIA2	Mfn2	MGI:2442230	MFN2	Human only
609549	Nanophthalmos 2; NNO2	Nanophthalmia 2|Nanophthalmos, Autosomal Recessive	Mfrp	MGI:2385957	MFRP	Human only
611040	Microphthalmia, Isolated 5; MCOP5	Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen	Mfrp	MGI:2385957	MFRP	Human only
610951	Ceroid Lipofuscinosis, Neuronal, 7; CLN7		Mfsd8	MGI:1919425	MFSD8	Human only
612099	Trichoepithelioma, Multiple Familial, 2	Mft2			MFT2	Human only
309300	Megalocornea; MGC1	MGCN			MGC1	Human only
273300	Testicular Germ Cell Tumor; TGCT				MGCT	Human only
245150	Keutel Syndrome	Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages	Mgp	MGI:96976	MGP	Human only
607516	Migraine with or without Aura, Susceptibility to, 6				MGR	Human only
611706	Migraine, with or without Aura, Susceptibility to, 12; MGR12				MGR12	Human only
300125	Migraine, Familial Typical, Susceptibility to, 2	MFTS|MGR2			MGR2	Human only
607498	Migraine with or without Aura, Susceptibility to, 3	MGR3			MGR3	Human only
607501	Migraine without Aura, Susceptibility to, 4	MGOA|MGR4			MGR4	Human only
607508	Migraine with or without Aura, Susceptibility to, 5	Mgr5			MGR5	Human only
609179	Migraine with Aura, Susceptibility to, 7	MGR7			MGR7	Human only
609570	Migraine with or without Aura, Susceptibility to, 8	Mgr8			MGR8	Human only
609670	Migraine with Aura, Susceptibility to, 9	Mgr9			MGR9	Human only
611376	Mungan Syndrome; MGS	Pseudoobstruction, Chronic Idiopathic Intestinal, with Barrett Esophagus and Cardiac Abnormalities|Visceral Neuromyopathy, Familial, with Pseudoobstruction, Megaduodenum, Barrett Esophagus, and Cardiac Abnormalities			MGS	Human only
605013	Microhydranencephaly; MHAC	Hydranencephaly and Microcephaly			MHAC	Human only
255160	Myopathy, Hyaline Body, Autosomal Recessive				MHB	Human only
154275	Malignant Hyperthermia, Susceptibility to, 2	MHS2			MHS2	Human only
154276	Malignant Hyperthermia, Susceptibility to, 3	MHS3			MHS3	Human only
600467	Malignant Hyperthermia, Susceptibility to, 4	MHS4			MHS4	Human only
601888	Malignant Hyperthermia, Susceptibility to, 6	MHS6			MHS6	Human only
603663	Mental Health Wellness 1	MHW1			MHW1	Human only
603664	Mental Health Wellness 2	MHW2			MHW2	Human only
612001	Chromosome 15q13.3 Deletion Syndrome	Chromosome 15q13.3 Microdeletion Syndrome			MICRODEL15Q13.3	Human only
609425	Chromosome 3q29 Deletion Syndrome	Microdeletion 3q29 Syndrome			MICRODEL3Q29	Human only
604302	Rheumatoid Arthritis, Systemic Juvenile	Systemic Juvenile Rheumatoid Arthritis	Mif	MGI:96982	MIF	Human only
188470	Thyroid Carcinoma, Follicular; FTC		Minpp1	MGI:1336159	MINPP1	Human only
135750	Laurin-Sandrow Syndrome	Lss|Mirror Hands and Feet with Nasal Defects|Mirror-Image Polydactyly; MIP|Sandrow Syndrome|Tetramelic Mirror-Image Polydactyly; TMIP	Mipol1	MGI:1920740	MIPOL1	Human only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic			MIR16-1	Human only
613418	Bone Mineral Density Quantitative Trait Locus 15; BMND15	Compression Fracture, Susceptibility to|Metaphyseal Fracture, Susceptibility to|Osteoporosis, Susceptibility to			MIR2861	Human only
613074	Deafness, Autosomal Dominant 50; DFNA50		Mir96	MGI:3619440	MIR96	Human only
236700	McKusick-Kaufman Syndrome; MKKS	Hydrometrocolpos Syndrome|Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation; HMCS|Kaufman-Mckusick Syndrome	Mkks	MGI:1891836	MKKS	Human only
209900	Bardet-Biedl Syndrome; BBS		Mks1	MGI:3584243	MKS1	Human only
604004	Megalencephalic Leukoencephalopathy with Subcortical Cysts 1; MLC1	Leukoencephalopathy with Swelling and Cysts|LVM|Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts|Van Der Knaap Disease|VL	Mlc1	MGI:2157910	MLC1	Human only
601626	Leukemia, Acute Myeloid; AML		Mlf1	MGI:1341819	MLF1	Human only
114030	Cafe-Au-Lait Spots, Multiple		Mlh1	MGI:101938	MLH1	Human only
158320	Muir-Torre Syndrome; MRTES	Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas	Mlh1	MGI:101938	MLH1	Human only
276300	Mismatch Repair Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1; BTPS1|Btp1 Syndrome|Childhood Cancer Syndrome|Mismatch Repair Deficiency|Mmr Deficiency|Mmrcs|Turcot Syndrome	Mlh1	MGI:101938	MLH1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Mlh3	MGI:1353455	MLH3	Human only
608089	Endometrial Cancer		Mlh3	MGI:1353455	MLH3	Human only
147920	Kabuki Syndrome 1; KABUK1	Kabuki Make-Up Syndrome; KMS|Kabuki Syndrome|Niikawa-Kuroki Syndrome	Mll2	MGI:2682319	MLL2	Human only
601626	Leukemia, Acute Myeloid; AML		Mllt10	MGI:1329038	MLLT10	Human only
609227	Griscelli Syndrome, Type 3; GS3		Mlph	MGI:2176380	MLPH	Human only
601308	Myeloid Tumor Suppressor	Myeloid Leukemia-Related Locus; MLRL			MLRG	Human only
248360	Malonyl-CoA Decarboxylase Deficiency		Mlycd	MGI:1928485	MLYCD	Human only
251100	Methylmalonic Aciduria, CblA Type	Methylmalonic Acidemia, Cbla Type|Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cbla Type	Mmaa	MGI:1923805	MMAA	Human only
251110	Methylmalonic Aciduria, CblB Type	Methylmalonic Acidemia, Cblb Type|Methylmalonic Aciduria, Vitamin B12-Responsive, Due to Defect in Synthesis of Adenosylcobalamin, Cblb Type	Mmab	MGI:1924947	MMAB	Human only
277400	Methylmalonic Aciduria and Homocystinuria, CblC Type	Methylmalonic Acidemia and Homocystinuria, Cblc Type|Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive|Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase	Mmachc	MGI:1914346	MMACHC	Human only
277410	Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic Acidemia, Cblh Type, Formerly|Methylmalonic Aciduria, Cblh Type, Formerly	Mmadhc	MGI:1923786	MMADHC	Human only
613318	Miyoshi Muscular Dystrophy 2; MMD2	Miyoshi Myopathy 2	Mmd2	MGI:1922354	MMD2	Human only
613318	Miyoshi Muscular Dystrophy 2; MMD2	Miyoshi Myopathy 2	Mmd2	MGI:1922354	MMD2	Human only
605711	Multiple Mitochondrial Dysfunctions Syndrome 1; MMDS1	Mmds			MMDFS	Human only
156232	Mesomelic Dysplasia, Kantaputra Type	Mesomelic Dysplasia with Ankle, Carpal, and Tarsal Synostosis|Mesomelic Dysplasia, Thai Type|MMDK; MDK			MMDK	Human only
607131	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	MMEDF			MMEDF	Human only
226600	Epidermolysis Bullosa Dystrophica, Autosomal Recessive; RDEB	Dystrophic Epidermolysis Bullosa, Autosomal Recessive	Mmp1a	MGI:1933846	MMP1	Human only
606963	Pulmonary Disease, Chronic Obstructive		Mmp1a	MGI:1933846	MMP1	Human only
602111	Spondyloepimetaphyseal Dysplasia, Missouri Type		Mmp13	MGI:1340026	MMP13	Human only
259600	Torg-Winchester Syndrome	Al-Aqeel Sewairi Syndrome|Multicentric Osteolysis, Nodulosis, and Arthropathy; MONA|Nao Syndrome|Nodulosis-Arthropathy-Osteolysis Syndrome|Osteolysis, Hereditary Multicentric|Torg Syndrome|Winchester Syndrome	Mmp2	MGI:97009	MMP2	Human only
204700	Amelogenesis Imperfecta, Hypomaturation Type, Iia1; AI2A1	Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1	Mmp20	MGI:1353466	MMP20	Human only
603932	Intervertebral Disc Disease; IDD		Mmp9	MGI:97011	MMP9	Human only
613073	Metaphyseal Anadysplasia 2; MANDP2		Mmp9	MGI:97011	MMP9	Human only
613680	Microcephaly, Mental Retardation, and Distinctive Facies, with Cardiac and Genitourinary Malformations				MMRFCGU	Human only
156240	Mesothelioma, Malignant; MESOM				MMS	Human only
157700	Mitral Valve Prolapse, Familial; MVP	Barlow Syndrome|Floppy Mitral Valve|Mitral Regurgitation, Familial|Myxomatous Valvular Disease, Familial|Prolapsed Mitral Valve; PMV			MMVP1	Human only
607829	Mitral Valve Prolapse, Myxomatous 2; MMVP2	Myxomatous Mitral Valve Prolapse 2			MMVP2	Human only
610840	Mitral Valve Prolapse, Myxomatous 3; MMVP3	Myxomatous Mitral Valve Prolapse 3			MMVP3	Human only
607174	Meningioma, Familial		Mn1	MGI:1261813	MN1	Human only
611863	Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma				MNDEC	Human only
138800	Goiter, Multinodular 1, with or without Sertoli-Leydig Cell Tumors;	Euthyroid Goiter|Goiter, Nontoxic, with Intrathyroidal Calcification|Mng1|Multinodular Goiter, Adolescent|Simple Goiter			MNG1	Human only
300273	Goiter, Multinodular 2; MNG2				MNG2	Human only
606082	Goiter, Multinodular 3; MNG3				MNG3	Human only
606190	Meningioma, Radiation-Induced	MNRI			MNRI	Human only
176450	Currarino Syndrome		Mnx1	MGI:109160	MNX1	Human only
252150	Molybdenum Cofactor Deficiency	MOCOD	Mocs2	MGI:1336894	MOCS2	Human only
606056	Congenital Disorder of Glycosylation, Type IIB; CDG2B	Cdg IIB; CDGIIB|Glucosidase I Deficiency	Mogs	MGI:1929872	MOGS	Human only
300345	Microphthalmia, Isolated, with Coloboma 1; MCOPCB1	Microphthalmia, Colobomatous, Isolated 1			MOPCB1	Human only
605738	Microphthalmia, Isolated, with Coloboma 2; MCOPCB2	Microphthalmia, Colobomatous, Isolated 2; MCOPCB2			MOPCB2	Human only
610099	Myopathy, Distal, 3; MPD3				MPD3	Human only
300519	Martin-Probst Deafness-Mental Retardation Syndrome				MPDMRS	Human only
609180	Congenital Disorder of Glycosylation, Type IF; CDG1F	Cdg IF; CDGIF	Mpdu1	MGI:1346040	MPDU1	Human only
602579	Congenital Disorder of Glycosylation, Type IB; CDG1B	Cdg IB; CDGIB|CDG, Gastrointestinal Type|Mannosephosphate Isomerase Deficiency|MPI Deficiency|Protein-Losing Enteropathy-Hepatic Fibrosis Syndrome|Saguenay-Lac Saint-Jean Syndrome; SLSJ SYNDROME	Mpi	MGI:97075	MPI	Human only
187950	Thrombocythemia, Essential	Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary	Mpl	MGI:97076	MPL	Human only
104300	Alzheimer Disease; AD		Mpo	MGI:97137	MPO	Human only
256810	Mitochondrial DNA Depletion Syndrome 6 (hepatocerebral Type); MTDPS6	Navajo Neurohepatopathy; NNH	Mpv17	MGI:97138	MPV17	Human only
180800	Roussy-Levy Hereditary Areflexic Dystasia	Roussy-Levy Syndrome	Mpz	MGI:103177	MPZ	Human only
605253	Neuropathy, Congenital Hypomyelinating	Charcot-Marie-Tooth Disease, Type 4E; CMT4E|Charcot-Marie-Tooth Neuropathy, Type 4E|Congenital Hypomyelinating Neuropathy; CHN|Hypomyelination, Severe Congenital	Mpz	MGI:103177	MPZ	Human only
607677	Charcot-Marie-Tooth Disease, Axonal, Type 2I; CMT2I	Charcot-Marie-Tooth Neuropathy, Type 2I	Mpz	MGI:103177	MPZ	Human only
607736	Charcot-Marie-Tooth Disease, Axonal, Type 2J; CMT2J	Charcot-Marie-Tooth Disease, Type 2, with Hearing Loss and Pupillary Abnormalities|Charcot-Marie-Tooth Neuropathy, Type 2J	Mpz	MGI:103177	MPZ	Human only
607791	Charcot-Marie-Tooth Disease, Dominant Intermediate D; CMTDID	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D|DI-CMTD	Mpz	MGI:103177	MPZ	Human only
607398	Glucocorticoid Deficiency 2; GCCD2	Familial Glucocorticoid Deficiency 2; FGD2	Mrap	MGI:1924287	MRAP	Human only
604391	Ataxia-Telangiectasia-Like Disorder; ATLD		Mre11a	MGI:1100512	MRE11A	Human only
155900	Melkersson-Rosenthal Syndrome	Melkersson Syndrome|MROS; MRS			MROS	Human only
610498	Combined Oxidative Phosphorylation Deficiency 2; COXPD2	Corpus Callosum, Agenesis of, with Dysmorphism and Fatal Lactic Acidosis	Mrps16	MGI:1913492	MRPS16	Human only
611719	Combined Oxidative Phosphorylation Deficiency 5; COXPD5		Mrps22	MGI:1928137	MRPS22	Human only
309620	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy; MRSD	Christian Syndrome; CHRS			MRSD	Human only
300360	Mental Retardation, X-Linked, with Short Stature	Mrss			MRSS	Human only
602685	Mental Retardation, Severe, with Spasticity and Pigmentary Tapetoretinal Degeneration	MRST			MRST	Human only
611096	Mental Retardation, Autosomal Recessive 10; MRT10	Mental Retardation, Autosomal Recessive 20; MRT20			MRT10	Human only
611097	Mental Retardation, Autosomal Recessive 11; MRT11				MRT11	Human only
611090	Mental Retardation, Autosomal Recessive 12; MRT12				MRT12	Human only
611107	Mental Retardation, Autosomal Recessive 4; MRT4				MRT4	Human only
611091	Mental Retardation, Autosomal Recessive 5; MRT5				MRT5	Human only
611094	Mental Retardation, Autosomal Recessive 8; MRT8				MRT8	Human only
611095	Mental Retardation, Autosomal Recessive 9; MRT9	Mental Retardation, Autosomal Recessive 26; MRT26			MRT9	Human only
309530	Mental Retardation, X-Linked 1; MRX1				MRX1	Human only
300062	Mental Retardation, X-Linked 14; MRX14				MRX14	Human only
300428	Mental Retardation, X-Linked 2; MRX2				MRX2	Human only
300047	Mental Retardation, X-Linked 20; MRX20				MRX20	Human only
300046	Mental Retardation, X-Linked 23; MRX23				MRX23	Human only
300372	Mental Retardation, X-Linked 42; MRX42				MRX42	Human only
300114	Mental Retardation, X-Linked 49; MRX49				MRX49	Human only
300115	Mental Retardation, X-Linked 50; MRX50				MRX50	Human only
300504	Mental Retardation, X-Linked 52; MRX52				MRX52	Human only
300324	Mental Retardation, X-Linked 53; MRX53				MRX53	Human only
300271	Mental Retardation, X-Linked 72; MRX72				MRX72	Human only
300355	Mental Retardation, X-Linked 73; MRX73				MRX73	Human only
300454	Mental Retardation, X-Linked 77; MRX77				MRX77	Human only
300551	Mental Retardation, X-Linked 78; MRX78				MRX78	Human only
300433	Mental Retardation, X-Linked 81; MRX81				MRX81	Human only
300518	Mental Retardation, X-Linked 82; MRX82				MRX82	Human only
300505	Mental Retardation, X-Linked 84; MRX84				MRX84	Human only
300238	Mental Retardation, X-Linked, Syndromic 11; MRXS11	Mental Retardation, X-Linked, Shashi Type|Shashi X-Linked Mental Retardation Syndrome; SMRXS			MRXS11	Human only
309545	Mental Retardation, X-Linked, Syndromic 12; MRXS12				MRXS12	Human only
304340	Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures	Mental Retardation, X-Linked, Syndromic 5; MRXS5|Mental Retardation, X-Linked, with Dandy-Walker Malformation, Basal Ganglia Disease, and Seizures|Pettigrew Syndrome; PGS			MRXS5	Human only
300218	Mental Retardation, X-Linked, Syndromic 7; MRXS7	Ahmad X-Linked Mental Retardation Syndrome			MRXS7	Human only
300261	Armfield X-Linked Mental Retardation Syndrome; MRXSA	Mental Retardation, X-Linked, Syndromic, Armfield Type			MRXSA	Human only
300262	Abidi X-Linked Mental Retardation Syndrome; MRXSAB	Mental Retardation, X-Linked, Syndromic, Abidi Type			MRXSAB	Human only
300260	Lubs X-Linked Mental Retardation Syndrome; MRXSL	Mecp2 Duplication Syndrome|Mental Retardation, X-Linked, Syndromic, Lubs Type|Mental Retardation, X-Linked, with Recurrent Respiratory Infections			MRXSL	Human only
126200	Multiple Sclerosis, Susceptibility To; MS				MS	Human only
612594	Multiple Sclerosis, Susceptibility to, 2; MS2				MS2	Human only
612595	Multiple Sclerosis, Susceptibility to, 3; MS3				MS3	Human only
612596	Multiple Sclerosis, Susceptibility to, 4; MS4				MS4	Human only
613495	Immunodeficiency, Common Variable, 5; CVID5	Antibody Deficiency Due to Cd20 Defect	Ms4a1	MGI:88321	MS4A1	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Ms4a2	MGI:95495	MS4A2	Human only
311400	Paine Syndrome				MSD	Human only
114030	Cafe-Au-Lait Spots, Multiple		Msh2	MGI:101816	MSH2	Human only
137800	Glioma Susceptibility 1; GLM1		Msh2	MGI:101816	MSH2	Human only
158320	Muir-Torre Syndrome; MRTES	Cutaneous Sebaceous Neoplasms and Keratoacanthomas, Multiple, with Gastrointestinal and Other Carcinomas	Msh2	MGI:101816	MSH2	Human only
162200	Neurofibromatosis, Type I; NF1	Neurofibromatosis, Peripheral Type|Von Recklinghausen Disease	Msh2	MGI:101816	MSH2	Human only
276300	Mismatch Repair Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1; BTPS1|Btp1 Syndrome|Childhood Cancer Syndrome|Mismatch Repair Deficiency|Mmr Deficiency|Mmrcs|Turcot Syndrome	Msh2	MGI:101816	MSH2	Human only
276300	Mismatch Repair Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1; BTPS1|Btp1 Syndrome|Childhood Cancer Syndrome|Mismatch Repair Deficiency|Mmr Deficiency|Mmrcs|Turcot Syndrome	Msh6	MGI:1343961	MSH6	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Msh6	MGI:1343961	MSH6	Human only
608089	Endometrial Cancer		Msh6	MGI:1343961	MSH6	Human only
611928	Prostate Cancer, Hereditary, 13; HPC13		Msmb	MGI:97166	MSMB	Human only
176807	Prostate Cancer		Msr1	MGI:98257	MSR1	Human only
613718	Deafness, Autosomal Recessive 74; DFNB74		Msrb3	MGI:2443538	MSRB3	Human only
609432	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction; MSSD	Syndactyly, Malik-Percin Type|Syndactyly, Type IX			MSSD	Human only
132800	Multiple Self-Healing Squamous Epithelioma, Susceptibility To; MSSE	Ess1, Formerly|Ferguson-Smith Type Epithelioma			MSSE	Human only
189500	Witkop Syndrome	Nail Dysplasia with Hypodontia|Tooth-And-Nail Syndrome; TNS	Msx1	MGI:97168	MSX1	Human only
168550	Parietal Foramina with Cleidocranial Dysplasia; PFMCCD	Cleidocranial Dysplasia with Parietal Foramina	Msx2	MGI:97169	MSX2	Human only
300259	Mycobacterium Tuberculosis, Susceptibility to, X-Linked	MTBSX			MTBS	Human only
607949	Mycobacterium Tuberculosis, Susceptibility to, 1	MTBS1			MTBS1	Human only
611046	Mycobacterium Tuberculosis, Susceptibility to, 2	Mtbs2			MTBS2	Human only
612929	Mycobacterium Tuberculosis, Susceptibility to, 3	Mtbs3			MTBS3	Human only
601634	Neural Tube Defects, Folate-Sensitive		Mthfd1	MGI:1342005	MTHFD1	Human only
119530	Orofacial Cleft 1; OFC1	Cleft Lip with or without Cleft Palate, Nonsyndromic, 1|Cleft Lip/Palate, Nonsyndromic|Orofacial Cleft, Nonsyndromic; OFC	Mthfr	MGI:106639	MTHFR	Human only
181500	Schizophrenia; SCZD		Mthfr	MGI:106639	MTHFR	Human only
188050	Thrombosis, Susceptibility to		Mthfr	MGI:106639	MTHFR	Human only
236250	Homocystinuria Due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Methylenetetrahydrofolate Reductase Deficiency	Mthfr	MGI:106639	MTHFR	Human only
310400	Myopathy, Centronuclear, X-Linked; CNMX	Myotubular Myopathy 1; MTM1|Myotubular Myopathy, X-Linked; MTMX; XLMTM	Mtm1	MGI:1099452	MTM1	Human only
160150	Myopathy, Centronuclear, 1; CNM1	Myopathy, Centronuclear, Autosomal Dominant|Myotubular Myopathy, Autosomal Dominant	Mtmr14	MGI:1916075	MTMR14	Human only
613672	Ataxia, Spastic, 4, Autosomal Recessive; SPAX4		Mtpap	MGI:1914690	MTPAP	Human only
119530	Orofacial Cleft 1; OFC1	Cleft Lip with or without Cleft Palate, Nonsyndromic, 1|Cleft Lip/Palate, Nonsyndromic|Orofacial Cleft, Nonsyndromic; OFC	Mtr	MGI:894292	MTR	Human only
190685	Down Syndrome		Mtr	MGI:894292	MTR	Human only
250940	Methylcobalamin Deficiency, cblG Type	Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type	Mtr	MGI:894292	MTR	Human only
601634	Neural Tube Defects, Folate-Sensitive		Mtr	MGI:894292	MTR	Human only
236270	Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblE Complementation Type	Methylcobalamin Deficiency, Cble Type|Vitamin B12-Responsive Homocystinuria, Cble Type	Mtrr	MGI:1891037	MTRR	Human only
601634	Neural Tube Defects, Folate-Sensitive		Mtrr	MGI:1891037	MTRR	Human only
200100	Abetalipoproteinemia; ABL	Acanthocytosis|Apolipoprotein B Deficiency|Bassen-Kornzweig Syndrome|Microsomal Triglyceride Transfer Protein Deficiency|MTP Deficiency	Mttp	MGI:106926	MTTP	Human only
605552	Abdominal Obesity-Metabolic Syndrome	AOMS1	Mttp	MGI:106926	MTTP	Human only
191390	Inflammatory Bowel Disease 11; IBD11		Gm7534	MGI:3702974	MUC3A	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial			MUC7	Human only
612841	Hypotrichosis 5; HYPT5	Marie Unna Hereditary Hypotrichosis 2; MUHH2			MUHH2	Human only
132600	Pilomatrixoma	Epithelioma Calcificans of Malherbe|Pilomatricoma; PTR	Mutyh	MGI:1917853	MUTYH	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Mutyh	MGI:1917853	MUTYH	Human only
608456	Familial Adenomatous Polyposis, 2; FAP2	Adenomas, Multiple Colorectal, Autosomal Recessive|Colorectal Adenomatous Polyposis, Autosomal Recessive	Mutyh	MGI:1917853	MUTYH	Human only
260920	Hyper-IgD Syndrome; HIDS	Hyperimmunoglobulinemia D and Periodic Fever Syndrome|Periodic Fever, Dutch Type	Mvk	MGI:107624	MVK	Human only
610377	Mevalonic Aciduria		Mvk	MGI:107624	MVK	Human only
176807	Prostate Cancer		Mxi1	MGI:97245	MXI1	Human only
607085	Myasthenia Gravis with Thymus Hyperplasia	MYAS1			MYAS1	Human only
115200	Cardiomyopathy, Dilated, 1A; CMD1A	Cardiomyopathy, Congestive|Cardiomyopathy, Dilated, with Conduction Defect 1; CDCD1|Cardiomyopathy, Familial Idiopathic|Cardiomyopathy, Idiopathic Dilated	Mybpc3	MGI:102844	MYBPC3	Human only
164280	Feingold Syndrome 1; FGLDS1	Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum|Feingold Syndrome|Microcephaly and Digital Abnormalities with Normal Intelligence|Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome|Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome; MODED|MMT Syndrome|Oculodigitoesophagoduodenal Syndrome; ODED|ODED Syndrome	Mycn	MGI:97357	MYCN	Human only
612260	Myd88 Deficiency; MYD88D	Pyogenic Bacterial Infections, Recurrent, Due to Myd88 Deficiency|Recurrent Pyogenic Bacterial Infections Due to Myd88 Deficiency	Myd88	MGI:108005	MYD88	Human only
160150	Myopathy, Centronuclear, 1; CNM1	Myopathy, Centronuclear, Autosomal Dominant|Myotubular Myopathy, Autosomal Dominant	Myf6	MGI:97253	MYF6	Human only
300376	Muscular Dystrophy, Becker Type; BMD	Becker Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Myf6	MGI:97253	MYF6	Human only
310200	Muscular Dystrophy, Duchenne Type; DMD	Duchenne Muscular Dystrophy|Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type	Myf6	MGI:97253	MYF6	Human only
132900	Aortic Aneurysm, Familial Thoracic 4; AAT4	Aortic Aneurysm/Aortic Dissection and Patent Ductus Arteriosus|Faa4	Myh11	MGI:102643	MYH11	Human only
600652	Deafness, Autosomal Dominant 4; DFNA4		Myh14	MGI:1919210	MYH14	Human only
605637	Inclusion Body Myopathy 3, Autosomal Dominant; IBM3	Myopathy with Congenital Joint Contractures, Ophthalmoplegia, and Rimmed Vacuoles	Myh2	MGI:1339710	MYH2	Human only
193700	Arthrogryposis, Distal, Type 2A; DA2A	Craniocarpotarsal Dysplasia|Craniocarpotarsal Dystrophy|Freeman-Sheldon Syndrome; FSS|Whistling Face-Windmill Vane Hand Syndrome	Myh3	MGI:1339709	MYH3	Human only
601680	Arthrogryposis, Distal, Type 2B; DA2B	Arthrogryposis Multiplex Congenita, Distal, Type 2B|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Freeman-Sheldon Syndrome Variant; FSSV|Sheldon-Hall Syndrome; SHS	Myh3	MGI:1339709	MYH3	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Myh6	MGI:97255	MYH6	Human only
613252	Cardiomyopathy, Dilated, 1ee; CMD1EE		Myh6	MGI:97255	MYH6	Human only
160500	Myopathy, Distal, 1; MPD1	Laing Distal Myopathy|Myopathy, Distal, Early-Onset, Autosomal Dominant|Myopathy, Late Distal Hereditary	Myh7	MGI:2155600	MYH7	Human only
181430	Scapuloperoneal Myopathy, Myh7-Related; SPMM	Scapuloperoneal Muscular Dystrophy; SPMD|Scapuloperoneal Syndrome, Myopathic Type	Myh7	MGI:2155600	MYH7	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Myh7	MGI:2155600	MYH7	Human only
608358	Myopathy, Myosin Storage	Myopathy, Hyaline Body, Autosomal Dominant	Myh7	MGI:2155600	MYH7	Human only
613426	Cardiomyopathy, Dilated, 1s; CMD1S		Myh7	MGI:2155600	MYH7	Human only
158300	Arthrogryposis, Distal, Type 7; DA7	Hecht Syndrome|Mouth, Inability to Open Completely, and Short Finger-Flexor Tendons|Trismus-Pseudocamptodactyly Syndrome	Myh8	MGI:1339712	MYH8	Human only
608837	Carney Complex Variant		Myh8	MGI:1339712	MYH8	Human only
153640	Fechtner Syndrome; FTNS	Alport Syndrome with Macrothrombocytopenia, Formerly; APSM, FORMERLY|Macrothrombocytopenia, Nephritis, Deafness, and Leukocyte Inclusions	Myh9	MGI:107717	MYH9	Human only
153650	Epstein Syndrome	Macrothrombocytopenia, Nephritis, and Deafness	Myh9	MGI:107717	MYH9	Human only
155100	May-Hegglin Anomaly; MHA	Bleeding Disorder, Platelet-Type, 6; BDPLT6|Dohle Leukocyte Inclusions with Giant Platelets|Macrothrombocytopenia with Leukocyte Inclusions	Myh9	MGI:107717	MYH9	Human only
600208	Macrothrombocytopenia and Progressive Sensorineural Deafness		Myh9	MGI:107717	MYH9	Human only
603622	Deafness, Autosomal Dominant 17; DFNA17		Myh9	MGI:107717	MYH9	Human only
605249	Sebastian Syndrome; SBS	Macrothrombocytopenia with Dispersed Leukocytic Inclusions|Sebastian Platelet Syndrome	Myh9	MGI:107717	MYH9	Human only
608758	Cardiomyopathy, Familial Hypertrophic, 10; CMH10	Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2	Myl2	MGI:97272	MYL2	Human only
608751	Cardiomyopathy, Familial Hypertrophic, 8; CMH8	Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1	Myl3	MGI:97268	MYL3	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Mylk2	MGI:2139434	MYLK2	Human only
252350	Moyamoya Disease 1; MYMY1	Moyamoya Disease; MYMY|Spontaneous Occlusion of the Circle of Willis			MYMY1	Human only
607151	Moyamoya Disease 2; MYMY2				MYMY2	Human only
608796	Moyamoya Disease 3; MYMY3				MYMY3	Human only
607841	Deafness, Autosomal Dominant 48; DFNA48		Myo1a	MGI:107732	MYO1A	Human only
251850	Diarrhea 2, with Microvillus Atrophy; DIAR2	Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities|Davidson Disease|Intractable Diarrhea of Infancy|Microvillus Atrophy, Congenital|Microvillus Inclusion Disease; MVID	Myo5b	MGI:106598	MYO5B	Human only
600060	Deafness, Autosomal Recessive 2; DFNB2	Neurosensory Nonsyndromic Recessive Deafness 2; NSRD2	Myo7a	MGI:104510	MYO7A	Human only
601317	Deafness, Autosomal Dominant 11; DFNA11		Myo7a	MGI:104510	MYO7A	Human only
609753	Celiac Disease, Susceptibility to, 4; CELIAC4	Gluten-Sensitive Enteropathy, Susceptibility to, 4	Myo9b	MGI:106624	MYO9B	Human only
137750	Glaucoma 1, Open Angle, A; GLC1A		Myoc	MGI:1202864	MYOC	Human only
159000	Muscular Dystrophy, Limb-Girdle, Type 1A; LGMD1A	LGMD1|Muscular Dystrophy, Proximal, Type 1A	Myot	MGI:1889800	MYOT	Human only
601419	Myopathy, Myofibrillar, 1; MFM1	Desmin-Related Myopathy; DRM|Desminopathy, Primary|Inclusion Body Myopathy 1, Autosomal Dominant, Formerly; IBM1, FORMERLY|Myopathy, Myofibrillar, Desmin-Related	Myot	MGI:1889800	MYOT	Human only
609200	Myopathy, Myofibrillar, 3; MFM3	Myopathy, Myofibrillar, Myotilin-Related|Myotilinopathy	Myot	MGI:1889800	MYOT	Human only
310460	Myopia 1, X-Linked; MYP1				MYP1	Human only
609259	Myopia 10; MYP10				MYP10	Human only
609994	Myopia 11, Autosomal Dominant; MYP11				MYP11	Human only
609995	Myopia 12, Autosomal Dominant; MYP12				MYP12	Human only
300613	Myopia 13, X-Linked; MYP13				MYP13	Human only
610320	Myopia 14; MYP14				MYP14	Human only
612717	Myopia 15, Autosomal Dominant; MYP15				MYP15	Human only
612554	Myopia 16, Autosomal Dominant; MYP16				MYP16	Human only
608367	Myopia 17, Autosomal Dominant; MYP17	Myopia 4, Formerly; MYP4, FORMERLY			MYP17	Human only
255500	Myopia 18, Autosomal Recessive; MYP18				MYP18	Human only
160700	Myopia 2, Autosomal Dominant; MYP2				MYP2	Human only
603221	Myopia 3, Autosomal Dominant; MYP3				MYP3	Human only
608367	Myopia 17, Autosomal Dominant; MYP17	Myopia 4, Formerly; MYP4, FORMERLY			MYP4	Human only
608474	Myopia 5, Autosomal Dominant; MYP5				MYP5	Human only
608908	Myopia 6; MYP6				MYP6	Human only
609256	Myopia 7; MYP7				MYP7	Human only
609257	Myopia 8; MYP8				MYP8	Human only
609258	Myopia 9; MYP9				MYP9	Human only
613387	Fatty Liver Disease, Nonalcoholic, Susceptibility to, 2; NAFLD2				NAFLD2	Human only
609241	Schindler Disease, Type I	Alpha-N-Acetylgalactosaminidase Deficiency, Type I|Neuroaxonal Dystrophy, Schindler Type	Naga	MGI:1261422	NAGA	Human only
609242	Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset|Alpha-N-Acetylgalactosaminidase Deficiency, Type II|NAGA Deficiency, Type II|Schindler Disease, Type II	Naga	MGI:1261422	NAGA	Human only
237310	N-Acetylglutamate Synthase Deficiency	Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency|N-Acetylglutamate Synthetase Deficiency|NAGS Deficiency	Nags	MGI:2387600	NAGS	Human only
310490	Cowchock Syndrome	Charcot-Marie-Tooth Disease with Deafness and Mental Retardation|Charcot-Marie-Tooth Disease, X-Linked Recessive, 4; CMTX4|NADMR|Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation; NAMSD			NAMSD	Human only
243400	Acetylation, Slow	Isoniazid Inactivation, Slow|Slow Acetylator Phenotype	Nat1	MGI:97279	NAT2	Human only
613015	Neuroblastoma, Susceptibility to, 4; NBLST4				NBLST4	Human only
613016	Neuroblastoma, Susceptibility to, 5; NBLST5				NBLST5	Human only
613017	Neuroblastoma, Susceptibility to, 6; NBLST6				NBLST6	Human only
233700	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	Cgd, Autosomal Recessive Cytochrome B-Positive, Type I|Granulomatous Disease, Chronic, Due to NCF1 Deficiency|Ncf1, Deficiency of|Neutrophil Cytosol Factor 1, Deficiency of|P47-Phox, Deficiency of|SOC2, Deficiency of|Soluble Oxidase Component II, Deficiency of			NCF1	Human only
233710	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Cgd, Autosomal Recessive Cytochrome B-Positive, Type II|Granulomatous Disease, Chronic, Due to NCF2 Deficiency|Ncf2, Deficiency of|Neutrophil Cytosol Factor 2, Deficiency of|P67-Phox, Deficiency of	Ncf2	MGI:97284	NCF2	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Ncoa4	MGI:1350932	NCOA4	Human only
609148	Malaria, Mild, Susceptibility to	MALS	Ncr3-ps	MGI:2149332	NCR3	Human only
142690	Acne Inversa, Familial, 1; ACNINV1	Acne Inversa, Familial|Hidradenitis Suppurativa, Familial	Ncstn	MGI:1891700	NCSTN	Human only
605779	Nail Disorder, Nonsyndromic Congenital, 7; NDNC7	Onychodysplasia, Isolated Congenital			NDIC	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufa1	MGI:1929511	NDUFA1	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufa11	MGI:1917125	NDUFA11	Human only
607464	Thyroid Carcinoma, Hurthle Cell	Hurthle Cell Thyroid Neoplasia	Ndufa13	MGI:1914434	NDUFA13	Human only
256000	Leigh Syndrome; LS		Ndufa2	MGI:1343103	NDUFA2	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufaf2	MGI:1922847	NDUFAF2	Human only
256000	Leigh Syndrome; LS		Ndufaf2	MGI:1922847	NDUFAF2	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufaf3	MGI:1913956	NDUFAF3	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufaf4	MGI:1915743	NDUFAF4	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufs1	MGI:2443241	NDUFS1	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufs2	MGI:2385112	NDUFS2	Human only
256000	Leigh Syndrome; LS		Ndufs3	MGI:1915599	NDUFS3	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufs4	MGI:1343135	NDUFS4	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufs6	MGI:107932	NDUFS6	Human only
256000	Leigh Syndrome; LS		Ndufs7	MGI:1922656	NDUFS7	Human only
256000	Leigh Syndrome; LS		Ndufs8	MGI:2385079	NDUFS8	Human only
203450	Alexander Disease		Ndufv1	MGI:107851	NDUFV1	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufv1	MGI:107851	NDUFV1	Human only
256000	Leigh Syndrome; LS		Ndufv1	MGI:107851	NDUFV1	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Ndufv2	MGI:1920150	NDUFV2	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Ndufv2	MGI:1920150	NDUFV2	Human only
609469	Nephropathy, Progressive, with Deafness	Alport/Focal Segmental Glomerulosclerosis-Like Syndrome|Nede			NEDE	Human only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Nefh	MGI:97309	NEFH	Human only
607684	Charcot-Marie-Tooth Disease, Axonal, Type 2E; CMT2E	Charcot-Marie-Tooth Neuropathy, Type 2E	Nefl	MGI:97313	NEFL	Human only
607734	Charcot-Marie-Tooth Disease, Demyelinating, Type 1F; CMT1F	Charcot-Marie-Tooth Neuropathy, Type 1F	Nefl	MGI:97313	NEFL	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Nelf	MGI:1861755	NELF	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Neurod1	MGI:1339708	NEUROD1	Human only
606394	Maturity-Onset Diabetes of the Young, Type 6; MODY6	Mody, Type 6	Neurod1	MGI:1339708	NEUROD1	Human only
610370	Diarrhea 4, Malabsorptive, Congenital; DIAR4	Enteric Anendocrinosis	Neurog3	MGI:893591	NEUROG3	Human only
613122	Cardiomyopathy, Dilated, 1cc; CMD1CC		Nexn	MGI:1916060	NEXN	Human only
162210	Neurofibromatosis, Familial Spinal	FSNF	Nf1	MGI:97306	NF1	Human only
193520	Watson Syndrome	Cafe-Au-Lait Spots with Pulmonic Stenosis|Pulmonic Stenosis with Cafe-Au-Lait Spots	Nf1	MGI:97306	NF1	Human only
601321	Neurofibromatosis-Noonan Syndrome; NFNS	Neurofibromatosis with Noonan Phenotype|Noonan-Neurofibromatosis Syndrome	Nf1	MGI:97306	NF1	Human only
607785	Juvenile Myelomonocytic Leukemia; JMML		Nf1	MGI:97306	NF1	Human only
101000	Neurofibromatosis, Type II; NF2	Acoustic Neurinoma, Bilateral; ACN|Acoustic Schwannomas, Bilateral|Bilateral Acoustic Neurofibromatosis; BANF|Neurofibromatosis, Central Type	Nf2	MGI:97307	NF2	Human only
162091	Schwannomatosis	Neurilemmomatosis, Congenital Cutaneous	Nf2	MGI:97307	NF2	Human only
612132	Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant		Nfkbia	MGI:104741	NFKBIA	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Nfkbil1	MGI:1340031	NFKBIL1	Human only
608654	Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5	HSAN V|Insensitivity to Pain, Congenital	Ngf	MGI:97321	NGF	Human only
611291	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation	Nhej1	MGI:1922820	NHEJ1	Human only
224230	Dyskeratosis Congenita, Autosomal Recessive, 1; DKCB1		Nhp2	MGI:1098547	NHP2	Human only
302200	Cataract, Congenital, X-Linked; CXN	Cataract, Congenital Total, with Posterior Sutural Opacities in Heterozygotes; CCT	Nhs	MGI:2684894	NHS	Human only
601283	Diabetes Mellitus, Noninsulin-Dependent, 1; NIDDM1	Noninsulin-Dependent Diabetes Mellitus 1			NIDDM1	Human only
601407	Diabetes Mellitus, Noninsulin-Dependent, 2; NIDDM2	Noninsulin-Dependent Diabetes Mellitus 2			NIDDM2	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus			NIDDM3	Human only
603694	Diabetes Mellitus, Noninsulin-Dependent, 3	NIDDM3|Noninsulin-Dependent Diabetes Mellitus 3			NIDDM3	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus			NIDDM4	Human only
608036	Diabetes Mellitus, Noninsulin-Dependent, 4	NIDDM4|Noninsulin-Dependent Diabetes Mellitus 4			NIDDM4	Human only
600363	Spastic Paraplegia 6, Autosomal Dominant; SPG6	Familial Spastic Paraplegia, Autosomal Dominant, 3; FSP3	Nipa1	MGI:2442058	NIPA1	Human only
612281	Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related		Nipal4	MGI:2444671	NIPAL4	Human only
609981	Natural Killer Cell Deficiency, Familial Isolated	Nkcd			NKCD	Human only
118700	Chorea, Benign Hereditary; BHC	Bch|Hereditary Progressive Chorea without Dementia	Nkx2-1	MGI:108067	NKX2-1	Human only
610978	Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress		Nkx2-1	MGI:108067	NKX2-1	Human only
108900	Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects; ASD7	Asd with or without Atrioventricular Conduction Defects	Nkx2-5	MGI:97350	NKX2-5	Human only
187500	Tetralogy of Fallot; TOF		Nkx2-5	MGI:97350	NKX2-5	Human only
225250	Hypothyroidism, Congenital, Nongoitrous, 5; CHNG5		Nkx2-5	MGI:97350	NKX2-5	Human only
217095	Conotruncal Heart Malformations; CTHM		Nkx2-6	MGI:97351	NKX2-6	Human only
613330	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia; SMMD		Nkx3-2	MGI:108015	NKX3-2	Human only
300494	Asperger Syndrome, X-Linked, Susceptibility to, 1	ASPGX1	Nlgn3	MGI:2444609	NLGN3	Human only
300495	Autism, Susceptibility to, X-Linked 2; AUTSX2				NLGN4X	Human only
300497	Asperger Syndrome, X-Linked, Susceptibility to, 2	ASPGX2			NLGN4X	Human only
606579	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1;	Systemic Lupus Erythematosus, Vitiligo-Related; SLEV1|Vamas1|Vitiligo; VTLG	Nlrp1a	MGI:2684861	NLRP1	Human only
611762	Familial Cold Autoinflammatory Syndrome 2; FCAS2		Nlrp12	MGI:2676630	NLRP12	Human only
607115	CINCA Syndrome; CINCA	Chronic Neurologic Cutaneous and Articular Syndrome|Multisystem Inflammatory Disease, Neonatal-Onset; NOMID	Nlrp3	MGI:2653833	NLRP3	Human only
231090	Hydatidiform Mole, Recurrent, 1; HYDM1	Complete Hydatidiform Mole; CHM|Gestational Trophoblastic Disease|Hydatidiform Mole; HYDM			NLRP7	Human only
162820	Neutrophil Chemotactic Response; NCR	Neutrophil Migration; NM			NM	Human only
256700	Neuroblastoma, Susceptibility to		Nme1	MGI:97355	NME1	Human only
605285	Neuropathy, Hereditary Motor and Sensory, Russe Type	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4G; CMT4G|Charcot-Marie-Tooth Disease, Type 4G; CMT4G|Charcot-Marie-Tooth Neuropathy, Type 4G|Hereditary Motor and Sensory Neuropathy, Russe Type; HMSNR			NMSR	Human only
606240	Thyroid Carcinoma, Nonmedullary, Susceptibility to, 1	Nonmedullary Thyroid Carcinoma 1; NMTC1			NMTC1	Human only
600165	Nanophthalmos 1; NNO1	Microphthalmos, Simple, Autosomal Dominant|Nanophthalmia 1|Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma|Nanophthalmos, Autosomal Dominant			NNO1	Human only
611897	Nanophthalmos 3; NNO3	Nanophthalmia 3			NNO3	Human only
611548	Premature Ovarian Failure 5; POF5		Nobox	MGI:108011	NOBOX	Human only
181000	Sarcoidosis, Susceptibility to, 1; SS1	Boeck Sarcoid|Sarcoidosis	Nod2	MGI:2429397	NOD2	Human only
186580	Blau Syndrome	Arthrocutaneouveal Granulomatosis; ACUG|Granulomatosis, Familial Juvenile Systemic|Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial|Jabs Syndrome	Nod2	MGI:2429397	NOD2	Human only
607507	Psoriatic Arthritis, Susceptibility to Psoriatic Arthritis, Susceptibility to, 1; PSORAS1		Nod2	MGI:2429397	NOD2	Human only
609464	Sarcoidosis, Early-Onset	Eos	Nod2	MGI:2429397	NOD2	Human only
270100	Heterotaxy, Visceral, 5, Autosomal; HTX5	Situs Inversus Viscerum; SIV	Nodal	MGI:97359	NODAL	Human only
184460	Stapes Ankylosis with Broad Thumb and Toes	Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly|Stapes Ankylosis Syndrome without Symphalangism|Teunissen-Cremers Syndrome	Nog	MGI:104327	NOG	Human only
185800	Symphalangism, Proximal; SYM1	Cushing Symphalangism|Hereditary Absence of the Proximal Interphalangeal Joints	Nog	MGI:104327	NOG	Human only
186500	Multiple Synostoses Syndrome 1; SYNS1	Deafness-Symphalangism Syndrome of Herrmann|Facioaudiosymphalangism Syndrome|Symphalangism-Brachydactyly Syndrome|Synostoses, Multiple, with Brachydactyly|WL Syndrome	Nog	MGI:104327	NOG	Human only
186570	Tarsal-Carpal Coalition Syndrome; TCC		Nog	MGI:104327	NOG	Human only
611377	Brachydactyly, Type B2; BDB2		Nog	MGI:104327	NOG	Human only
224230	Dyskeratosis Congenita, Autosomal Recessive, 1; DKCB1		Nop10	MGI:1913431	NOP10	Human only
610141	Qt Interval, Variation in		Nos1ap	MGI:1917979	NOS1AP	Human only
145500	Hypertension, Essential	EHT	Nos2	MGI:97361	NOS2	Human only
248310	Plasmodium Falciparum Blood Infection Level	Pfbi|Plasmodium Falciparum Parasitemia	Nos2	MGI:97361	NOS2	Human only
611162	Malaria, Susceptibility to		Nos2	MGI:97361	NOS2	Human only
104300	Alzheimer Disease; AD		Nos3	MGI:97362	NOS3	Human only
163729	Nitric Oxide Synthase 3; NOS3		Nos3	MGI:97362	NOS3	Human only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Nos3	MGI:97362	NOS3	Human only
601367	Stroke, Ischemic	Cerebral Infarction|Cerebrovascular Accident	Nos3	MGI:97362	NOS3	Human only
109730	Aortic Valve Disease	Aortic Stenosis, Calcific|Aortic Valve, Bicuspid|Aortic Valve, Calcification of|Bicuspid Aortic Valve; BAV	Notch1	MGI:97363	NOTCH1	Human only
610205	Alagille Syndrome 2; ALGS2		Notch2	MGI:97364	NOTCH2	Human only
607107	Nasopharyngeal Carcinoma	Npc|Npca			NPC1	Human only
607625	Niemann-Pick Disease, Type C2		Npc2	MGI:1915213	NPC2	Human only
161550	Nasopharyngeal Carcinoma, Susceptibility to, 2	Npca2			NPCA2	Human only
256100	Nephronophthisis 1; NPHP1	Nephronophthisis, Familial Juvenile|NPH1	Nphp1	MGI:1858233	NPHP1	Human only
266900	Senior-Loken Syndrome 1; SLSN1	Juvenile Nephronophthisis with Leber Amaurosis|Loken-Senior Syndrome|Renal Dysplasia and Retinal Aplasia|Renal-Retinal Syndrome|Senior-Loken Syndrome	Nphp1	MGI:1858233	NPHP1	Human only
609583	Joubert Syndrome 4; JBTS4		Nphp1	MGI:1858233	NPHP1	Human only
208540	Renal-Hepatic-Pancreatic Dysplasia; RHPD	Goldston Syndrome|Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst	Nphp3	MGI:1921275	NPHP3	Human only
606966	Nephronophthisis 4; NPHP4	Nephronophthisis 4, Juvenile	Nphp4	MGI:2384210	NPHP4	Human only
606996	Senior-Loken Syndrome 4; SLSN4		Nphp4	MGI:2384210	NPHP4	Human only
601626	Leukemia, Acute Myeloid; AML		Npm1	MGI:106184	NPM1	Human only
612201	Atrial Fibrillation, Familial, 6; ATFB6		Nppa	MGI:97367	NPPA	Human only
608584	Asthma-Related Traits, Susceptibility to, 2	Asrt2	Npsr1	MGI:2441738	NPSR1	Human only
125860	Nad(p)h Dehydrogenase, Quinone 1; NQO1	Diaphorase 4; DIA4|Nad(p)h:menadione Oxidoreductase 1, Dioxin-Inducible 1; NMOR1	Nqo1	MGI:103187	NQO1	Human only
114480	Breast Cancer		Nqo2	MGI:104513	NQO2	Human only
300018	46,xy Sex Reversal 2; SRXY2	46,xy Sex Reversal, Dax1-Related|Dosage-Sensitive Sex Reversal; DSS	Nr0b1	MGI:1352460	NR0B1	Human only
601665	Obesity		Nr0b2	MGI:1346344	NR0B2	Human only
611131	Retinitis Pigmentosa 37; RP37		Nr2e3	MGI:1346317	NR2E3	Human only
138040	Glucocorticoid Receptor; GCCR	GCR; GRL	Nr3c1	MGI:95824	NR3C1	Human only
605115	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy		Nr3c2	MGI:99459	NR3C2	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Nr4a2	MGI:1352456	NR4A2	Human only
612237	Chondrosarcoma, Extraskeletal Myxoid	Emc	Nr4a3	MGI:1352457	NR4A3	Human only
184757	Nuclear Receptor Subfamily 5, Group A, Member 1; NR5A1	Fushi Tarazu Factor, Drosophila, Homolog 1; FTZF1; FTZ1|Steroidogenic Factor 1; SF1	Nr5a1	MGI:1346833	NR5A1	Human only
612964	Premature Ovarian Failure 7; POF7		Nr5a1	MGI:1346833	NR5A1	Human only
612965	46,xy Sex Reversal 3; SRXY3	46,xy Gonadal Dysgenesis, Complete or Partial, with or without Adrenal Failure|46,xy Sex Reversal, Partial or Complete, Nr5a1-Related|Disorder of Sex Development, 46,xy|Sex Reversal, Xy, with or without Adrenal Failure	Nr5a1	MGI:1346833	NR5A1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Nras	MGI:97376	NRAS	Human only
188470	Thyroid Carcinoma, Follicular; FTC		Nras	MGI:97376	NRAS	Human only
164790	Neuroblastoma Ras Viral Oncogene Homolog; NRAS		Nras	MGI:97376	NRAS	Human only
613224	Noonan Syndrome 6; NS6		Nras	MGI:97376	NRAS	Human only
161400	Narcolepsy 1; NRCLP1				NRCLP	Human only
605841	Narcolepsy 2, Susceptibility To; NRCLP2				NRCLP	Human only
609039	Narcolepsy 3; NRCLP3				NRCLP3	Human only
612417	Narcolepsy 4, Susceptibility To; NRCLP4				NRCLP4	Human only
612851	Narcolepsy 5, Susceptibility To; NRCLP5				NRCLP5	Human only
603013	Schizophrenia 6; SCZD6	Schizophrenia Susceptibility Locus, Chromosome 8p-Related	Nrg1	MGI:96083	NRG1	Human only
162080	Neural Retina Leucine Zipper; NRL	Neural Retina-Specific Gene	Nrl	MGI:102567	NRL	Human only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Nrtn	MGI:108417	NRTN	Human only
209850	Autism		Nrxn1	MGI:1096391	NRXN1	Human only
605275	Noonan Syndrome 2; NS2	Noonan Syndrome, Autosomal Recessive			NS2	Human only
117550	Sotos Syndrome	Cerebral Gigantism	Nsd1	MGI:1276545	NSD1	Human only
130650	Beckwith-Wiedemann Syndrome; BWS	EMG Syndrome|Exomphalos-Macroglossia-Gigantism Syndrome	Nsd1	MGI:1276545	NSD1	Human only
277590	Weaver Syndrome 1; WVS1		Nsd1	MGI:1276545	NSD1	Human only
601626	Leukemia, Acute Myeloid; AML		Nsd1	MGI:1276545	NSD1	Human only
308050	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	CHILD Syndrome|Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs	Nsdhl	MGI:1099438	NSDHL	Human only
300831	Ck Syndrome	Mental Retardation, X-Linked, with Thin Body Habitus and Cortical Malformation	Nsdhl	MGI:1099438	NSDHL	Human only
310465	N Syndrome; NSX				NSX	Human only
266120	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to	Hemolytic Anemia Due to P5n Deficiency|Hemolytic Anemia Due to Umph1 Deficiency|P5N Deficiency|Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due to|UMPH1 Deficiency	Nt5c3	MGI:1927186	NT5C3	Human only
211800	Calcification of Joints and Arteries; CALJA		Nt5e	MGI:99782	NT5E	Human only
613100	Glaucoma 1, Open Angle, O; GLC1O		Ntf5	MGI:97381	NTF4	Human only
155240	Thyroid Carcinoma, Familial Medullary; MTC	Fmtc|MTC1	Ntrk1	MGI:97383	NTRK1	Human only
252010	Mitochondrial Complex I Deficiency	Mitochondrial Nadh Dehydrogenase Component of Complex I, Deficiency of|Nadh-Coenzyme Q Reductase Deficiency|NADH:Q(1) Oxidoreductase Deficiency	Nubpl	MGI:1924076	NUBPL	Human only
601626	Leukemia, Acute Myeloid; AML		Nup214	MGI:1095411	NUP214	Human only
271930	Striatonigral Degeneration, Infantile; SNDI	Bilateral Striatal Necrosis, Infantile|Infantile Bilateral Striatal Necrosis; IBSN|Striatal Degeneration, Familial	Nup62	MGI:1351500	NUP62	Human only
164100	Nystagmus 2, Congenital, Autosomal Dominant; NYS2	Nystagmus, Congenital Motor, 2			NYS2	Human only
608345	Nystagmus 3, Congenital, Autosomal Dominant; NYS3				NYS3	Human only
193003	Nystagmus 4, Congenital, Autosomal Dominant; NYS4	Vestibulocerebellar Disorder with Predominant Ocular Signs			NYS4	Human only
300589	Nystagmus 5, Congenital, X-Linked; NYS5				NYS5	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Oas1g	MGI:97429	OAS1	Human only
164350	2-Prime,5-Prime-oligoadenylate Synthetase 1; OAS1	2-Prime,5-Prime-oligoisoadenylate Synthetase; OIAS	Oas1g	MGI:97429	OAS1	Human only
300650	Albinism, Ocular, with Late-Onset Sensorineural Deafness; OASD	Deafness and Ocular Albinism|Ocular Albinism with Sensorineural Deafness			OASD	Human only
601665	Obesity				OB10Q	Human only
607514	Body Mass Index Quantitative Trait Locus 10; BMIQ10	Obesity, Susceptibility to			OB10Q	Human only
601665	Obesity				OB4	Human only
608410	Body Mass Index Quantitative Trait Locus 7; BMIQ7	Obesity, Susceptibility to			OB4	Human only
612921	Three M Syndrome 2; 3M2	3M Syndrome 2	Obsl1	MGI:2138628	OBSL1	Human only
203200	Albinism, Oculocutaneous, Type II; OCA2	Oculocutaneous Albinism, Type II|Oculocutaneous Albinism, Tyrosinase-Positive	Oca2	MGI:97454	OCA2	Human only
251290	Band-Like Calcification with Simplified Gyration and Polymicrogyria;	Blcpmg|Pseudo-TORCH Syndrome	Ocln	MGI:106183	OCLN	Human only
300009	Dent Disease 1	Nephrolithiasis 2; NPHL2|Nephrolithiasis, Hypercalciuric, X-Linked|Urolithiasis, Hypercalciuric, X-Linked	Ocrl	MGI:109589	OCRL	Human only
309000	Lowe Oculocerebrorenal Syndrome; OCRL	Lowe Syndrome|OCRL1|Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency	Ocrl	MGI:109589	OCRL	Human only
300555	Dent Disease 2		Ocrl	MGI:109589	OCRL	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Odc1	MGI:97402	ODC1	Human only
300244	Terminal Osseous Dysplasia; TOD	Odpd|ODPF Syndrome|Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula; ODPF|Terminal Osseous Dysplasia and Pigmentary Defects; TODPD			ODPF	Human only
610064	Opioid Dependence, Susceptibility to, 1	Ods1			ODS1	Human only
119530	Orofacial Cleft 1; OFC1	Cleft Lip with or without Cleft Palate, Nonsyndromic, 1|Cleft Lip/Palate, Nonsyndromic|Orofacial Cleft, Nonsyndromic; OFC			OFC1	Human only
612858	Orofacial Cleft 12; OFC12	Cleft Lip with or without Cleft Palate, Nonsyndromic, 12			OFC12	Human only
602966	Orofacial Cleft 2; OFC2	Cleft Lip with or without Cleft Palate, Nonsyndromic, 2			OFC2	Human only
600757	Orofacial Cleft 3; OFC3	Cleft Lip with or without Cleft Palate, Nonsyndromic, 3			OFC3	Human only
608371	Orofacial Cleft 4; OFC4	Cleft Lip with or without Cleft Palate, Nonsyndromic, 4			OFC4	Human only
610361	Orofacial Cleft 9; OFC9	Cleft Lip with or without Cleft Palate, Nonsyndromic, 9			OFC9	Human only
300209	Simpson-Golabi-Behmel Syndrome, Type 2	SGBS2	Ofd1	MGI:1350328	OFD1	Human only
300804	Joubert Syndrome 10; JBTS10		Ofd1	MGI:1350328	OFD1	Human only
203740	Alpha-Ketoglutarate Dehydrogenase Deficiency	2-ketoglutarate Dehydrogenase Deficiency|Alpha-KGD Deficiency|Oxoglutaric Aciduria	Ogdh	MGI:1098267	OGDH	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Ogg1	MGI:1097693	OGG1	Human only
145410	Opitz Gbbb Syndrome, Autosomal Dominant	BBB Syndrome|Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype|G Syndrome|GBBB Syndrome|Hypertelorism with Esophageal Abnormality and Hypospadias|Hypertelorism-Hypospadias Syndrome|Hypospadias-Dysphagia Syndrome|Opitz Bbbg Syndrome|Opitz Gbbb Syndrome, Type II|Opitz Oculogenitolaryngeal Syndrome, Type II|Opitz-Frias Syndrome|Opitz-G Syndrome, Type II; OGS2|Telecanthus with Associated Abnormalities|Telecanthus-Hypospadias Syndrome			OGS2	Human only
143850	Orthostatic Hypotensive Disorder, Streeten Type	Hyperbradykininism|OHDS|Orthostatic Hypotensive Disorder			OHDS	Human only
166760	Otitis Media, Susceptibility to	COME/ROM|OMS|Otitis Media, Chronic/Recurrent			OMS	Human only
125250	Optic Atrophy with or without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy	Dominant Optic Atrophy Plus Syndrome; DOA+	Opa1	MGI:1921393	OPA1	Human only
606657	Glaucoma, Normal Tension, Susceptibility to	Glaucoma, Normal Pressure, Susceptibility To; NPG|NTG	Opa1	MGI:1921393	OPA1	Human only
311050	Optic Atrophy 2; OPA2	Optic Atrophy, Non-Leber Type, with Early Onset|Optic Atrophy, X-Linked			OPA2	Human only
165300	Optic Atrophy 3, Autosomal Dominant	Opa3, Autosomal Dominant|Optic Atrophy and Cataract, Autosomal Dominant	Opa3	MGI:2686271	OPA3	Human only
258501	3-methylglutaconic Aciduria, Type III; MGCA3	Costeff Syndrome|Iraqi-Jewish 'optic Atrophy Plus'|Mga, Type III; MGA3|Opa3, Autosomal Recessive|Optic Atrophy 3, Autosomal Recessive|Optic Atrophy Plus Syndrome|Optic Atrophy, Infantile, with Chorea and Spastic Paraplegia	Opa3	MGI:2686271	OPA3	Human only
605293	Optic Atrophy 4; OPA4				OPA4	Human only
610708	Optic Atrophy 5; OPA5				OPA5	Human only
258500	Optic Atrophy 6; OPA6	Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive			OPA6	Human only
167000	Ovarian Cancer		Opcml	MGI:97397	OPCML	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Opcml	MGI:97397	OPCML	Human only
311000	Ophthalmoplegia, External, and Myopia; OPEM	Myopia-Ophthalmoplegia Syndrome			OPEM	Human only
602475	Ossification of the Posterior Longitudinal Ligament of Spine; OPLL				OPLL	Human only
303700	Blue Cone Monochromacy; BCM	Blue Cone Monochromatism	Opn1lw	MGI:98202	OPN1LW	Human only
303900	Colorblindness, Partial, Protan Series; CBP	Protanopia	Opn1lw	MGI:98202	OPN1LW	Human only
303700	Blue Cone Monochromacy; BCM	Blue Cone Monochromatism	Opn1mw	MGI:1097692	OPN1MW	Human only
303800	Colorblindness, Partial, Deutan Series; CBD	Deutan Colorblindness; DCB|Deuteranopia	Opn1mw	MGI:1097692	OPN1MW	Human only
190900	Tritanopia	Blue Colorblindness|Colorblindness, Tritan; CBT|Colorblindness, Tritanopic	Opn1sw	MGI:99438	OPN1SW	Human only
600669	Epilepsy, Idiopathic Generalized; EIG		Oprm1	MGI:97441	OPRM1	Human only
137760	Glaucoma, Primary Open Angle; POAG		Optn	MGI:1918898	OPTN	Human only
606657	Glaucoma, Normal Tension, Susceptibility to	Glaucoma, Normal Pressure, Susceptibility To; NPG|NTG	Optn	MGI:1918898	OPTN	Human only
613435	Amyotrophic Lateral Sclerosis 12; ALS12		Optn	MGI:1918898	OPTN	Human only
612782	Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1		Orai1	MGI:1925542	ORAI1	Human only
613800	Meier-Gorlin Syndrome 2; MGORS2		Orc4	MGI:1347043	ORC4	Human only
613803	Meier-Gorlin Syndrome 3; MGORS3		Orc6	MGI:1929285	ORC6	Human only
601101	Telangiectasia, Hereditary Hemorrhagic, Type 3; HHT3				ORW3	Human only
612401	Osteoarthritis Susceptibility 6; OS6	Osteoarthritis of Knee			OS6	Human only
105250	Amyloidosis, Primary Localized Cutaneous, 1; PLCA1	Amyloidosis IX|Amyloidosis, Familial Cutaneous Lichen|Amyloidosis, Primary Cutaneous, 1; PCA1|Lichen Amyloidosis, Familial|Pca	Osmr	MGI:1330819	OSMR	Human only
259720	Osteopetrosis, Autosomal Recessive 5; OPTB5	Osteopetrosis, Infantile Malignant 3	Ostm1	MGI:2655574	OSTM1	Human only
607039	Deafness, Autosomal Recessive 22; DFNB22		Otoa	MGI:2149209	OTOA	Human only
166800	Otosclerosis 1; OTSC1	Otosclerosis, Association with|OTS			OTSC1	Human only
605727	Otosclerosis 2; OTSC2				OTSC2	Human only
608244	Otosclerosis 3; OTSC3				OTSC3	Human only
611571	Otosclerosis 4; OTSC4				OTSC4	Human only
608787	Otosclerosis 5; OTSC5				OTSC5	Human only
611572	Otosclerosis 7; OTSC7				OTSC7	Human only
612096	Otosclerosis 8; OTSC8				OTSC8	Human only
610125	Microphthalmia, Syndromic 5; MCOPS5		Otx2	MGI:97451	OTX2	Human only
607893	Ovarian Cancer, Susceptibility to, 1; OVCAS1				OVCAS1	Human only
245050	Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency	Ketoacidosis Due to Scot Deficiency|Scot Deficiency|Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency|Succinyl-Coa:acetoacetate Transferase Deficiency	Oxct1	MGI:1914291	OXCT1	Human only
151400	Leukemia, Chronic Lymphocytic; CLL	Leukemia, Chronic Lymphatic	P2rx7	MGI:1339957	P2RX7	Human only
609821	Bleeding Disorder, Platelet-Type, 8; BDPLT8		P2ry12	MGI:1918089	P2RY12	Human only
164300	Oculopharyngeal Muscular Dystrophy; OPMD	Muscular Dystrophy, Oculopharyngeal	Pabpn1	MGI:1859158	PABPN1	Human only
607572	Leprosy, Susceptibility to, 2; LPRS2		Pacrg	MGI:1916560	PACRG	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Padi4	MGI:1338898	PADI4	Human only
128700	Preauricular Fistulae, Congenital	Ear Pits|PAFC			PAFC	Human only
300558	Mental Retardation, X-Linked 30; MRX30	Mental Retardation, X-Linked 47; MRX47	Pak3	MGI:1339656	PAK3	Human only
114480	Breast Cancer		Palb2	MGI:3040695	PALB2	Human only
610832	Fanconi Anemia, Complementation Group N; FANCN		Palb2	MGI:3040695	PALB2	Human only
613348	Pancreatic Cancer, Susceptibility to, 3	Pnca3	Palb2	MGI:3040695	PALB2	Human only
260350	Pancreatic Cancer	Pancreatic Acinar Carcinoma|Pancreatic Carcinoma	Palld	MGI:1919583	PALLD	Human only
606856	Pancreatic Cancer, Susceptibility to, 1	PNCA1	Palld	MGI:1919583	PALLD	Human only
167870	Panic Disorder 1; PAND1	Panic Disorder Susceptibility Locus, Chromosome 13q-Related			PAND1	Human only
607853	Panic Disorder 2	Pand2|Panic Disorder Susceptibility Locus, Chromosome 9q-Related			PAND2	Human only
609985	Panic Disorder 3	Pand3|Panic Disorder Susceptibility Locus, Chromosome 4q-Related			PAND3	Human only
234200	Neurodegeneration with Brain Iron Accumulation 1; NBIA1	Hallervorden-Spatz Disease|Pantothenate Kinase-Associated Neurodegeneration; PKAN|Pkan Neuroaxonal Dystrophy, Juvenile-Onset	Pank2	MGI:1921700	PANK2	Human only
607236	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration	HARP SYNDROME	Pank2	MGI:1921700	PANK2	Human only
606787	Peripheral Arterial Occlusive Disease 1	PAOD1			PAOD1	Human only
602085	Polydactyly, Postaxial, Type A2	PAPA2|Postaxial Polydactyly, Type A2			PAPA2	Human only
607324	Polydactyly, Postaxial, Type A3	PAPA3|Postaxial Polydactyly, Type A3			PAPA3	Human only
608562	Polydactyly, Postaxial, Type A4	PAPA4|Postaxial Polydactyly, Type A4			PAPA4	Human only
168600	Parkinson Disease, Late-Onset; PD	Park			PARK10	Human only
606852	Parkinson Disease 10; PARK10	Parkinson Disease, Age at Onset Of; AAOPD			PARK10	Human only
168600	Parkinson Disease, Late-Onset; PD	Park			PARK12	Human only
300557	Parkinson Disease 12; PARK12	Parkinson Disease, X-Linked			PARK12	Human only
613164	Parkinson Disease 16; PARK16				PARK16	Human only
211980	Lung Cancer		Park2	MGI:1355296	PARK2	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Park2	MGI:1355296	PARK2	Human only
607572	Leprosy, Susceptibility to, 2; LPRS2		Park2	MGI:1355296	PARK2	Human only
168600	Parkinson Disease, Late-Onset; PD	Park			PARK3	Human only
602404	Parkinson Disease 3, Autosomal Dominant; PARK3	Parkinson Disease 3, Autosomal Dominant Lewy Body			PARK3	Human only
605543	Parkinson Disease 4, Autosomal Dominant; PARK4	Parkinson Disease 4, Autosomal Dominant Lewy Body			PARK4	Human only
122880	Craniofacial-Deafness-Hand Syndrome; CDHS		Pax3	MGI:97487	PAX3	Human only
148820	Waardenburg Syndrome, Type 3; WS3	Klein-Waardenburg Syndrome|Waardenburg Syndrome with Upper Limb Anomalies|Waardenburg Syndrome, Type III	Pax3	MGI:97487	PAX3	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Pax4	MGI:97488	PAX4	Human only
612225	Maturity-Onset Diabetes of the Young, Type 9; MODY9		Pax4	MGI:97488	PAX4	Human only
612227	Diabetes Mellitus, Ketosis-Prone; KPD		Pax4	MGI:97488	PAX4	Human only
120200	Coloboma, Ocular	Coloboma of Iris, Choroid, and Retina; COI|Coloboma, Uveoretinal	Pax6	MGI:97490	PAX6	Human only
120430	Coloboma of Optic Nerve		Pax6	MGI:97490	PAX6	Human only
129750	Ectopia Pupillae		Pax6	MGI:97490	PAX6	Human only
136520	Foveal Hypoplasia and Presenile Cataract Syndrome		Pax6	MGI:97490	PAX6	Human only
165550	Optic Nerve Hypoplasia, Bilateral		Pax6	MGI:97490	PAX6	Human only
206700	Aniridia, Cerebellar Ataxia, and Mental Retardation	Gillespie Syndrome	Pax6	MGI:97490	PAX6	Human only
268220	Rhabdomyosarcoma 2; RMS2	Rhabdomyosarcoma, Alveolar; RMSA	Pax7	MGI:97491	PAX7	Human only
104300	Alzheimer Disease; AD		Paxip1	MGI:1890430	PAXIP1	Human only
613007	Biliary Cirrhosis, Primary, 2; PBC2				PBC2	Human only
613008	Biliary Cirrhosis, Primary, 3; PBC3				PBC3	Human only
600089	Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus				PBCA	Human only
600790	Chorioretinal Atrophy, Progressive Bifocal	CRAPB|Progressive Bifocal Chorioretinal Atrophy; PBCRA			PBCRA1	Human only
266150	Pyruvate Carboxylase Deficiency	Ataxia with Lactic Acidosis II|Leigh Necrotizing Encephalopathy Due to Pyruvate Carboxylase Deficiency|Leigh Syndrome Due to Pyruvate Carboxylase Deficiency|PC Deficiency	Pcx	MGI:97520	PC	Human only
176807	Prostate Cancer				PCAP	Human only
602759	Prostate Cancer, Hereditary, 8	Hpc8|Predisposing for Prostate Cancer; PCAP			PCAP	Human only
264070	Hyperphenylalaninemia, Bh4-Deficient, D; HPABH4D	CADH Deficiency|Hyperphenylalaninemia with Primapterinuria|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency|PCBD Deficiency	Pcbd1	MGI:94873	PCBD1	Human only
606054	Propionic Acidemia	Glycinemia, Ketotic|Hyperglycinemia with Ketoacidosis and Leukopenia|Ketotic Hyperglycinemia|PCC Deficiency|Propionyl-Coa Carboxylase Deficiency	Pcca	MGI:97499	PCCA	Human only
606054	Propionic Acidemia	Glycinemia, Ketotic|Hyperglycinemia with Ketoacidosis and Leukopenia|Ketotic Hyperglycinemia|PCC Deficiency|Propionyl-Coa Carboxylase Deficiency	Pccb	MGI:1914154	PCCB	Human only
601067	Usher Syndrome, Type ID; USH1D		Pcdh15	MGI:1891428	PCDH15	Human only
609533	Deafness, Autosomal Recessive 23; DFNB23		Pcdh15	MGI:1891428	PCDH15	Human only
300088	Epileptic Encephalopathy, Early Infantile, 9; EIEE9	Epilepsy, Female-Restricted, with Mental Retardation; EFMR|Juberg-Hellman Syndrome	Pcdh19	MGI:2685563	PCDH19	Human only
261680	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Pck1 Deficiency, Cytosolic|Pepck Deficiency, Cytosolic	Pck1	MGI:97501	PCK1	Human only
261650	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Pck2 Deficiency|Pepck2 Deficiency	Pck2	MGI:1860456	PCK2	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Pcm1	MGI:1277958	PCM1	Human only
210720	Microcephalic Osteodysplastic Primordial Dwarfism, Type II; MOPD2	MOPD II|Osteodysplastic Primordial Dwarfism, Type II	Pcnt	MGI:102722	PCNT	Human only
184700	Polycystic Ovary Syndrome 1; PCOS1	Hyperandrogenemia|PCO1; PCO|PCOS|Stein-Leventhal Syndrome			PCOS1	Human only
600955	Proprotein Convertase 1/3 Deficiency	Obesity and Endocrinopathy Due to Impaired Processing of Prohormones	Pcsk1	MGI:97511	PCSK1	Human only
612362	Body Mass Index Quantitative Trait Locus 12; BMIQ12	Obesity, Susceptibility to	Pcsk1	MGI:97511	PCSK1	Human only
603776	Hypercholesterolemia, Autosomal Dominant, 3; HCHOLA3	FH3	Pcsk9	MGI:2140260	PCSK9	Human only
607786	Proprotein Convertase, Subtilisin/Kexin-Type, 9; PCSK9		Pcsk9	MGI:2140260	PCSK9	Human only
167250	Paget Disease of Bone 1; PDB1				PDB1	Human only
602080	Paget Disease of Bone; PDB				PDB4	Human only
606263	Paget Disease of Bone 4; PDB4				PDB4	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		Pdcd1	MGI:104879	PDCD1	Human only
152700	Systemic Lupus Erythematosus; SLE		Pdcd1	MGI:104879	PDCD1	Human only
610475	Pigmented Nodular Adrenocortical Disease, Primary, 2; PPNAD2	Cushing Syndrome, Adrenal, Due to Ppnad2|Pigmented Micronodular Adrenocortical Disease, Primary, 2	Pde11a	MGI:3036251	PDE11A	Human only
606799	Stroke, Susceptibility to, 1	STRK1	Pde4d	MGI:99555	PDE4D	Human only
613093	Cone Dystrophy 4; COD4		Pde6c	MGI:105956	PDE6C	Human only
613582	Retinitis Pigmentosa 57; RP57		Pde6g	MGI:97526	PDE6G	Human only
610024	Retinal Cone Dystrophy 3A; RCD3A	Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Pde6h-Related	Pde6h	MGI:1925850	PDE6H	Human only
609161	Striatal Degeneration, Autosomal Dominant; ADSD		Pde8b	MGI:2443999	PDE8B	Human only
606764	Gastrointestinal Stromal Tumor; GIST		Pdgfra	MGI:97530	PDGFRA	Human only
607685	Hypereosinophilic Syndrome, Idiopathic; HES		Pdgfra	MGI:97530	PDGFRA	Human only
131440	Myeloproliferative Disorder, Chronic, with Eosinophilia	Eosinophils, Malignant Proliferation of|MPE; EMP	Pdgfrb	MGI:97531	PDGFRB	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Pdgfrl	MGI:1916047	PDGFRL	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Pdgfrl	MGI:1916047	PDGFRL	Human only
308930	Leigh Syndrome, X-Linked		Pdha1	MGI:97532	PDHA1	Human only
312170	Pyruvate Dehydrogenase E1-Alpha Deficiency; PDHAD	Ataxia, Intermittent, with Abnormal Pyruvate Metabolism|Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency|PDH Deficiency|Pyruvate Decarboxylase Deficiency|Pyruvate Dehydrogenase Complex Deficiency	Pdha1	MGI:97532	PDHA1	Human only
245349	Pyruvate Dehydrogenase E3-Binding Protein Deficiency; PDHXD	Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex	Pdhx	MGI:1351627	PDHX	Human only
608526	Periodontitis, Aggressive, 2				PDLA	Human only
166710	Osteoporosis	Bone Mineral Density Quantitative Trait Locus; BMND|Osteoporosis, Postmenopausal	Pdlim4	MGI:1353470	PDLIM4	Human only
608782	Pyruvate Dehydrogenase Phosphatase Deficiency; PDHPD	Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency	Pdp1	MGI:2685870	PDP1	Human only
301220	Pigmentary Disorder, Reticulate, with Systemic Manifestations; PDR	Amyloidosis, Familial Cutaneous			PDR	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Pdss1	MGI:1889278	PDSS1	Human only
607426	Coenzyme Q10 Deficiency	Coenzyme Q Deficiency|Coq Deficiency|Coq10 Deficiency, Primary|Ubiquinone Deficiency	Pdss2	MGI:1918615	PDSS2	Human only
260370	Pancreatic Agenesis, Congenital	Pancreatic Hypoplasia, Congenital	Pdx1	MGI:102851	PDX1	Human only
610245	Spinocerebellar Ataxia 23; SCA23		Pdyn	MGI:97535	PDYN	Human only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1			PEE1	Human only
609402	Preeclampsia/Eclampsia 2; PEE2				PEE2	Human only
609403	Preeclampsia/Eclampsia 3; PEE3				PEE3	Human only
170100	Prolidase Deficiency		Pepd	MGI:97542	PEPD	Human only
604348	Advanced Sleep-Phase Syndrome, Familial	FASPS	Per2	MGI:1195265	PER2	Human only
202370	Adrenoleukodystrophy, Autosomal Neonatal Form	Neonatal Adrenoleukodystrophy; NALD	Pex1	MGI:1918632	PEX1	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex1	MGI:1918632	PEX1	Human only
266510	Refsum Disease, Infantile	Infantile Phytanic Acid Storage Disease|IRD	Pex1	MGI:1918632	PEX1	Human only
602136	Peroxisome Biogenesis Factor 1; PEX1		Pex1	MGI:1918632	PEX1	Human only
202370	Adrenoleukodystrophy, Autosomal Neonatal Form	Neonatal Adrenoleukodystrophy; NALD	Pex10	MGI:2684988	PEX10	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex10	MGI:2684988	PEX10	Human only
602859	Peroxisome Biogenesis Factor 10; PEX10		Pex10	MGI:2684988	PEX10	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex12	MGI:2144177	PEX12	Human only
601758	Peroxisome Biogenesis Factor 12; PEX12		Pex12	MGI:2144177	PEX12	Human only
202370	Adrenoleukodystrophy, Autosomal Neonatal Form	Neonatal Adrenoleukodystrophy; NALD	Pex13	MGI:1919379	PEX13	Human only
601789	Peroxisome Biogenesis Factor 13; PEX13		Pex13	MGI:1919379	PEX13	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex14	MGI:1927868	PEX14	Human only
601791	Peroxisome Biogenesis Factor 14; PEX14	Peroxin 14	Pex14	MGI:1927868	PEX14	Human only
603360	Peroxisome Biogenesis Factor 16; PEX16		Pex16	MGI:1338829	PEX16	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex19	MGI:1334458	PEX19	Human only
600279	Peroxisome Biogenesis Factor 19; PEX19	Housekeeping Gene 33|Housekeeping Gene, 33-Kd; HK33|Peroxin 19|Peroxisomal Farnesylated Protein; PXF	Pex19	MGI:1334458	PEX19	Human only
170993	Peroxisome Biogenesis Factor 2; PEX2	Peroxisomal Assembly Factor 1; PAF1|Peroxisomal Membrane Protein 3; PXMP3 PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35	Pxmp3	MGI:107486	PEX2	Human only
266510	Refsum Disease, Infantile	Infantile Phytanic Acid Storage Disease|IRD	Pxmp3	MGI:107486	PEX2	Human only
202370	Adrenoleukodystrophy, Autosomal Neonatal Form	Neonatal Adrenoleukodystrophy; NALD	Pex26	MGI:1921293	PEX26	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex26	MGI:1921293	PEX26	Human only
266510	Refsum Disease, Infantile	Infantile Phytanic Acid Storage Disease|IRD	Pex26	MGI:1921293	PEX26	Human only
608666	Peroxisome Biogenesis Factor 26; PEX26		Pex26	MGI:1921293	PEX26	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex3	MGI:1929646	PEX3	Human only
603164	Peroxisome Biogenesis Factor 3; PEX3		Pex3	MGI:1929646	PEX3	Human only
202370	Adrenoleukodystrophy, Autosomal Neonatal Form	Neonatal Adrenoleukodystrophy; NALD	Pex5	MGI:1098808	PEX5	Human only
214100	Zellweger Syndrome; ZS	Cerebrohepatorenal Syndrome|CHR Syndrome|ZWS	Pex6	MGI:2385054	PEX6	Human only
601498	Peroxisome Biogenesis Factor 6; PEX6	Peroxin 6|Peroxisomal Assembly Factor 2; PAF2	Pex6	MGI:2385054	PEX6	Human only
266500	Refsum Disease, Adult	Hereditary Motor and Sensory Neuropathy IV; HSMN4|Heredopathia Atactica Polyneuritiformis|Phytanic Acid Oxidase Deficiency|Refsum Disease, Classic	Pex7	MGI:1321392	PEX7	Human only
601757	Peroxisome Biogenesis Factor 7; PEX7	Peroxin 7	Pex7	MGI:1321392	PEX7	Human only
248310	Plasmodium Falciparum Blood Infection Level	Pfbi|Plasmodium Falciparum Parasitemia			PFBI	Human only
609566	Parietal Foramina 3; PFM3				PFM3	Human only
261670	Glycogen Storage Disease X; GSD10	Gsd X|Myopathy Due to Phosphoglycerate Mutase Deficiency|Pgamm Deficiency|Phosphoglycerate Mutase, Muscle, Deficiency of	Pgam2	MGI:1933118	PGAM2	Human only
300653	Phosphoglycerate Kinase 1 Deficiency	Pgk1 Deficiency	Pgk1	MGI:97555	PGK1	Human only
612934	Glycogen Storage Disease Xiv; GSD14	Gsd Xiv|Pgm1 Deficiency|Phosphoglucomutase 1 Deficiency	Pgm2	MGI:97565	PGM1	Human only
145260	Pseudohypoaldosteronism, Type II; PHA2	Hyperpotassemia and Hypertension, Familial|Hypertensive Hyperkalemia, Familial			PHA2A	Human only
114480	Breast Cancer		Phb	MGI:97572	PHB	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Gm6907	MGI:3648476	PHF11	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Gm6907	MGI:3648476	PHF11	Human only
301900	Borjeson-Forssman-Lehmann Syndrome; BFLS	Borjeson Syndrome; BORJ|Mental Retardation, Epilepsy, and Endocrine Disorders|Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type; MRXSBFL	Phf6	MGI:1918248	PHF6	Human only
300263	Siderius X-Linked Mental Retardation Syndrome; MRXSSD	Mental Retardation, X-Linked, Syndromic, Siderius Type|Siderius-Hamel Syndrome	Phf8	MGI:2444341	PHF8	Human only
601815	Phosphoglycerate Dehydrogenase Deficiency	PHGDH Deficiency	Phgdh	MGI:1355330	PHGDH	Human only
306000	Glycogen Storage Disease Ixa1; GSD9A1	Glycogen Storage Disease VIII, Formerly|Gsd Ixa1|Liver Glycogenosis, X-Linked, Type I; XLG1	Phka2	MGI:97577	PHKA2	Human only
261750	Glycogen Storage Disease Ixb; GSD9B	Glycogenosis of Liver and Muscle, Autosomal Recessive|Gsd Ixb|Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive	Phkb	MGI:97578	PHKB	Human only
613027	Glycogen Storage Disease Ixc; GSD9C	Gsd IXC	Phkg2	MGI:1916211	PHKG2	Human only
608251	Phobia, Specific	Phobia, Simple			PHOBS	Human only
602078	Fibrosis of Extraocular Muscles, Congenital, 2; CFEOM2	Feom2 Locus|Fibrosis of Extraocular Muscles, Congenital, Autosomal Recessive	Phox2a	MGI:106633	PHOX2A	Human only
142623	Hirschsprung Disease, Susceptibility to, 1; HSCR1	Aganglionic Megacolon|Hirschsprung Disease; HSCR|Megacolon, Aganglionic; MGC	Phox2b	MGI:1100882	PHOX2B	Human only
256700	Neuroblastoma, Susceptibility to		Phox2b	MGI:1100882	PHOX2B	Human only
613013	Neuroblastoma, Susceptibility to, 2; NBLST2		Phox2b	MGI:1100882	PHOX2B	Human only
601626	Leukemia, Acute Myeloid; AML		Picalm	MGI:2385902	PICALM	Human only
300818	Paroxysmal Nocturnal Hemoglobinuria; PNH		Piga	MGI:99461	PIGA	Human only
610293	Glycosylphosphatidylinositol Deficiency	Gpi Deficiency	Pigm	MGI:1914806	PIGM	Human only
161950	Iga Nephropathy, Susceptibility to, 1; IGAN1	Berger Disease|IGAN|Nephritis, IgA Type	Pigr	MGI:103080	PIGR	Human only
239300	Hyperphosphatasia with Mental Retardation	Mabry Syndrome	Pigv	MGI:2442480	PIGV	Human only
114480	Breast Cancer		Pik3ca	MGI:1206581	PIK3CA	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Pik3ca	MGI:1206581	PIK3CA	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Pik3ca	MGI:1206581	PIK3CA	Human only
137215	Gastric Cancer, Hereditary Diffuse; HDGC		Pik3ca	MGI:1206581	PIK3CA	Human only
162900	Nevus, Epidermal	Nevus, Keratinocytic, Nonepidermolytic|Pigmented Moles	Pik3ca	MGI:1206581	PIK3CA	Human only
182000	Keratosis, Seborrheic		Pik3ca	MGI:1206581	PIK3CA	Human only
211980	Lung Cancer		Pik3ca	MGI:1206581	PIK3CA	Human only
604370	Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1		Pik3ca	MGI:1206581	PIK3CA	Human only
121850	Corneal Dystrophy, Fleck	CFD|Corneal Dystrophy, Francois-Neetens Speckled or Flecked|Fleck Corneal Dystrophy; FCD	Pikfyve	MGI:1335106	PIKFYVE	Human only
611369	Lethal Congenital Contractural Syndrome 3; LCCS3	Multiple Contractural Syndrome, Israeli Bedouin Type B	Pip5k1c	MGI:1298224	PIP5K1C	Human only
600977	Cone-Rod Dystrophy 5; CORD5		Pitpnm3	MGI:2685726	PITPNM3	Human only
137600	Iridogoniodysgenesis, Type 2; IRID2	Iridogoniodysgenesis Syndrome; IGDS|Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant; IHGA	Pitx2	MGI:109340	PITX2	Human only
180550	Ring Dermoid of Cornea; RDC		Pitx2	MGI:109340	PITX2	Human only
604229	Peters Anomaly		Pitx2	MGI:109340	PITX2	Human only
602669	Paired-Like Homeodomain Transcription Factor 3; PITX3		Pitx3	MGI:1100498	PITX3	Human only
610623	Cataract, Posterior Polar, 4; CTPP4		Pitx3	MGI:1100498	PITX3	Human only
600666	Polycystic Kidney Disease 3, Autosomal Dominant; PKD3	Polycystic Kidney Disease 3; PKD3|Polycystic Kidney Disease, Adult, Type III; APKD3|Polycystic Kidney Disease, Type 3			PKD3	Human only
600273	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis;	PKDTS|Tuberous Sclerosis/Polycystic Kidney Disease Contiguous Gene Syndrome			PKDTS	Human only
102900	Adenosine Triphosphate, Elevated, of Erythrocytes	Pyruvate Kinase Hyperactivity	Pklr	MGI:97604	PKLR	Human only
266200	Pyruvate Kinase Deficiency of Red Cells	Pk Deficiency|Pyruvate Kinase Deficiency of Erythrocyte	Pklr	MGI:97604	PKLR	Human only
604536	Ectodermal Dysplasia/Skin Fragility Syndrome	McGrath Syndrome	Pkp1	MGI:1328359	PKP1	Human only
609040	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9; ARVD9	Arrhythmogenic Right Ventricular Cardiomyopathy 9; ARVC9	Pkp2	MGI:1914701	PKP2	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Pla2g2a	MGI:104642	PLA2G2A	Human only
600522	Phospholipase A2, Group Iva; PLA2G4A	Phospholipase A2, Cytosolic, Calcium-Dependent, Alpha	Pla2g4a	MGI:1195256	PLA2G4A	Human only
610217	Neurodegeneration with Brain Iron Accumulation 2B; NBIA2B	Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related	Pla2g6	MGI:1859152	PLA2G6	Human only
612953	Parkinson Disease 14, Autosomal Recessive; PARK14	Dystonia-Parkinsonism, Adult-Onset	Pla2g6	MGI:1859152	PLA2G6	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Pla2g7	MGI:1351327	PLA2G7	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Pla2g7	MGI:1351327	PLA2G7	Human only
181030	Salivary Gland Adenoma, Pleomorphic	PSA|SGPA	Plag1	MGI:1891916	PLAG1	Human only
601410	Diabetes Mellitus, Transient Neonatal, 1	DMTN|TNDM|Tndm1	Plagl1	MGI:1100874	PLAGL1	Human only
612348	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Hyperfibrinolysis, Familial, Due to Increased Release of Tissue Plasminogen		Plat	MGI:97610	PLAT	Human only
613722	Epileptic Encephalopathy, Early Infantile, 12; EIEE12		Plcb1	MGI:97613	PLCB1	Human only
610725	Nephrotic Syndrome, Type 3; NPHS3	Nephrotic Syndrome, Early-Onset, Type 3	Plce1	MGI:1921305	PLCE1	Human only
612138	Epidermolysis Bullosa Simplex with Pyloric Atresia	Ebs with Pyloric Atresia|Ebs-Pa	Plec	MGI:1277961	PLEC	Human only
613723	Muscular Dystrophy, Limb-Girdle, Type 2q; LGMD2Q		Plec	MGI:1277961	PLEC	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Plekha1	MGI:2442213	PLEKHA1	Human only
117210	Spinocerebellar Ataxia 31; SCA31	Spinocerebellar Ataxia, 16q22-Linked	Plekhg4	MGI:2142544	PLEKHG4	Human only
600223	Spinocerebellar Ataxia 4; SCA4	Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy	Plekhg4	MGI:2142544	PLEKHG4	Human only
611067	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4; DSMA4		Plekhg5	MGI:2652860	PLEKHG5	Human only
611497	Osteopetrosis, Autosomal Recessive 6; OPTB6	Osteopetrosis, Autosomal Recessive, Intermediate Form	Plekhm1	MGI:2443207	PLEKHM1	Human only
608852	Pulmonary Function	Lung Function, Accelerated Rate of Decline In, Smoking-Related|PLF			PLF	Human only
609909	Cardiomyopathy, Dilated, 1p; CMD1P		Pln	MGI:97622	PLN	Human only
225400	Ehlers-Danlos Syndrome, Type Vi; EDS6	EDS VI|Ehlers-Danlos Syndrome, Kyphoscoliotic Type|Ehlers-Danlos Syndrome, Ocular-Scoliotic Type|Ehlers-Danlos Syndrome, Type Via, Formerly; EDS6A, FORMERLY	Plod1	MGI:99907	PLOD1	Human only
601451	Nevo Syndrome		Plod1	MGI:99907	PLOD1	Human only
609220	Bruck Syndrome 2; BRKS2	Osteogenesis Imperfecta with Congenital Joint Contractures	Plod2	MGI:1347007	PLOD2	Human only
612394	Bone Fragility with Contractures, Arterial Rupture, and Deafness	Lh3 Deficiency|Lysyl Hydroxylase 3 Deficiency	Plod3	MGI:1347008	PLOD3	Human only
611637	Primary Lateral Sclerosis, Adult, 1; PLSA1	Pls, Adult; PLSA			PLSA1	Human only
172425	Phospholipid Transfer Protein; PLTP		Pltp	MGI:103151	PLTP	Human only
212065	Congenital Disorder of Glycosylation, Type IA; CDG1A	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly|Cdg IA; CDGIA|Jaeken Syndrome|Phosphomannomutase 2 Deficiency	Pmm2	MGI:1859214	PMM2	Human only
118300	Charcot-Marie-Tooth Disease and Deafness	Charcot-Marie-Tooth Disease, Demyelinating, Type 1E; CMT1E|Charcot-Marie-Tooth Neuropathy and Deafness, Autosomal Dominant	Pmp22	MGI:97631	PMP22	Human only
145900	Hypertrophic Neuropathy of Dejerine-Sottas	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F; CMT4F|Charcot-Marie-Tooth Disease, Type 3; CMT3|Dejerine-Sottas Neuropathy; DSN|Dejerine-Sottas Syndrome; DSS|Hereditary Motor and Sensory Neuropathy Type III; HMSN3	Pmp22	MGI:97631	PMP22	Human only
180800	Roussy-Levy Hereditary Areflexic Dystasia	Roussy-Levy Syndrome	Pmp22	MGI:97631	PMP22	Human only
276300	Mismatch Repair Cancer Syndrome	Brain Tumor-Polyposis Syndrome 1; BTPS1|Btp1 Syndrome|Childhood Cancer Syndrome|Mismatch Repair Deficiency|Mmr Deficiency|Mmrcs|Turcot Syndrome	Pms2	MGI:104288	PMS2	Human only
118800	Paroxysmal Nonkinesigenic Dyskinesia 1; PNKD1	Choreoathetosis, Familial Paroxysmal; FPD1|Choreoathetosis, Nonkinesigenic|Dystonia 8; DYT8|Mount-Reback Syndrome|Paroxysmal Dystonic Choreoathetosis; PDC	Pnkd	MGI:1930773	PNKD	Human only
611147	Paroxysmal Nonkinesigenic Dyskinesia 2; PNKD2	Dystonia 20; DYT20			PNKD2	Human only
613402	Epileptic Encephalopathy, Early Infantile, 10; EIEE10	Microcephaly, Seizures, and Developmental Delay; MCSZ	Pnkp	MGI:1891698	PNKP	Human only
613179	Purine Nucleoside Phosphorylase Deficiency	Nucleoside Phosphorylase Deficiency	Pnp	MGI:97365	PNP	Human only
610717	Neutral Lipid Storage Disease with Myopathy; NLSDM	Neutral Lipid Storage Disease without Ichthyosis	Pnpla2	MGI:1914103	PNPLA2	Human only
612020	Spastic Paraplegia 39, Autosomal Recessive; SPG39	Nte-Related Motor Neuron Disorder; NTEMND	Pnpla6	MGI:1354723	PNPLA6	Human only
610090	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Epileptic Encephalopathy, Neonatal, Pnpo-Related|Pnpo Deficiency|Seizures, Pyridoxine-Resistant, Plp-Sensitive	Pnpo	MGI:2144151	PNPO	Human only
300604	Premature Ovarian Failure 2B; POF2B		Pof1b	MGI:1916943	POF1B	Human only
157640	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1; PEOA1	Progressive External Ophthalmoplegia, Autosomal Dominant, 1	Polg	MGI:1196389	POLG	Human only
203700	Mitochondrial DNA Depletion Syndrome 4a (alpers Type); MTDPS4A	Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis|Alpers Progressive Infantile Poliodystrophy|Alpers Syndrome|Alpers-Huttenlocher Syndrome|Neuronal Degeneration of Childhood with Liver Disease, Progressive; PNDC	Polg	MGI:1196389	POLG	Human only
258450	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive; PEOB	Progressive External Ophthalmoplegia, Autosomal Recessive	Polg	MGI:1196389	POLG	Human only
603041	Mitochondrial DNA Depletion Syndrome 1 (mngie Type); MTDPS1	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related|Mngie, Tymp-Related|Myoneurogastrointestinal Encephalopathy Syndrome|Polip Syndrome|Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction	Polg	MGI:1196389	POLG	Human only
607459	Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; SANDO		Polg	MGI:1196389	POLG	Human only
613662	Mitochondrial DNA Depletion Syndrome 4b (mngie Type); MTDPS4B	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related|Mngie, Polg-Related	Polg	MGI:1196389	POLG	Human only
610131	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4; PEOA4	Progressive External Ophthalmoplegia, Autosomal Dominant, 4	Polg2	MGI:1354947	POLG2	Human only
248390	Treacher Collins Syndrome 3; TCS3	Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive	Polr1c	MGI:103288	POLR1C	Human only
613717	Treacher Collins Syndrome 2; TCS2		Polr1d	MGI:108403	POLR1D	Human only
613151	Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 3; MDDGB3	Muscular Dystrophy, Congenital, Pomgnt1-Related	Pomgnt1	MGI:1915523	POMGNT1	Human only
613157	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 3; MDDGC3	Muscular Dystrophy, Limb-Girdle, Type 2o; LGMD2O|Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related	Pomgnt1	MGI:1915523	POMGNT1	Human only
601952	Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Klick Syndrome	Pomp	MGI:1913787	POMP	Human only
236670	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1	Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|COD-MD Syndrome|HARD Syndrome|Hydrocephalus, Agyria, and Retinal Dysplasia|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related	Pomt1	MGI:2138994	POMT1	Human only
609308	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 1; MDDGC1	Muscular Dystrophy, Limb-Girdle, Type 2K; LGMD2K	Pomt1	MGI:2138994	POMT1	Human only
613155	Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 1; MDDGB1	Muscular Dystrophy, Congenital, Pomt1-Related	Pomt1	MGI:2138994	POMT1	Human only
236670	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1	Cerebroocular Dysplasia-Muscular Dystrophy Syndrome|COD-MD Syndrome|HARD Syndrome|Hydrocephalus, Agyria, and Retinal Dysplasia|Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related	Pomt2	MGI:2444430	POMT2	Human only
613150	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 2; MDDGA2	Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related	Pomt2	MGI:2444430	POMT2	Human only
613156	Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 2; MDDGB2	Muscular Dystrophy, Congenital, Pomt2-Related	Pomt2	MGI:2444430	POMT2	Human only
613158	Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 2; MDDGC2	Muscular Dystrophy, Limb-Girdle, Type 2n; LGMD2N|Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Pomt2	MGI:2444430	POMT2	Human only
168820	Paraoxonase 1; PON1	Arylesterase|Paraoxonase, Plasma|PON	Pon1	MGI:103295	PON1	Human only
612633	Microvascular Complications of Diabetes, Susceptibility to, 5; MVCD5	Retinopathy, Diabetic, Susceptibility to	Pon1	MGI:103295	PON1	Human only
201750	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis;	Abs1	Por	MGI:97744	POR	Human only
613571	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency|Disordered Steroidogenesis Due to Por Deficiency	Por	MGI:97744	POR	Human only
262600	Pituitary Hormone Deficiency, Combined, 2; CPHD2	Ateliotic Dwarfism with Hypogonadism|Hanhart Dwarfism|Panhypopituitarism|Pituitary Dwarfism III	Pou1f1	MGI:97588	POU1F1	Human only
613038	Pituitary Hormone Deficiency, Combined, 1; CPHD1		Pou1f1	MGI:97588	POU1F1	Human only
602459	Deafness, Autosomal Dominant 15; DFNA15		Pou4f3	MGI:102523	POU4F3	Human only
601583	Wilms Tumor 5; WT5	Wilms Tumor, Susceptibility To; WTSL	Pou6f2	MGI:2443631	POU6F2	Human only
170998	Peroxisome Proliferator-Activated Receptor-Alpha; PPARA		Ppara	MGI:104740	PPARA	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Pparg	MGI:97747	PPARG	Human only
137800	Glioma Susceptibility 1; GLM1		Pparg	MGI:97747	PPARG	Human only
151660	Lipodystrophy, Familial Partial, Type 2; FPLD2	FPL2|Lipoatrophic Diabetes|Lipodystrophy, Familial Partial, Dunnigan Type|Lipodystrophy, Familial, of Limbs and Lower Trunk|Lipodystrophy, Reverse Partial	Pparg	MGI:97747	PPARG	Human only
601665	Obesity		Pparg	MGI:97747	PPARG	Human only
609338	Carotid Intimal Medial Thickness 1	CIMT1|Intimal Medial Thickness of Internal Carotid Artery	Pparg	MGI:97747	PPARG	Human only
601665	Obesity		Ppargc1b	MGI:2444934	PPARGC1B	Human only
259440	Osteogenesis Imperfecta, Type IX	Oi, Type IX|Oi9	Ppib	MGI:97750	PPIB	Human only
600231	Palmoplantar Keratoderma, Bothnian Type; PPKB				PPKB	Human only
114480	Breast Cancer		Ppm1d	MGI:1858214	PPM1D	Human only
176200	Porphyria Variegata	Porphyria, South African Type|Ppox Deficiency Variegate Porphyria, Homozygous Variant|Protoporphyrinogen Oxidase Deficiency|Variegate Porphyria; VP	Ppox	MGI:104968	PPOX	Human only
143890	Hypercholesterolemia, Autosomal Dominant	FHC; FH|Hyper-Low-Density-Lipoproteinemia|Hypercholesterolemic Xanthomatosis, Familial|Hyperlipoproteinemia, Type II|Hyperlipoproteinemia, Type IIA|LDL Receptor Disorder	Ppp1r17	MGI:1333876	PPP1R17	Human only
604367	Lipodystrophy, Familial Partial, Type 3; FPLD3	Lipodystrophy, Familial Partial, Associated with PPARG Mutations	Ppp1r3a	MGI:2153588	PPP1R3A	Human only
211980	Lung Cancer		Ppp2r1b	MGI:1920949	PPP2R1B	Human only
604326	Spinocerebellar Ataxia 12; SCA12		Ppp2r2b	MGI:1920180	PPP2R2B	Human only
175850	Porokeratosis, Palmar, Plantar, and Disseminated 1; PPPD1	Porokeratosis Palmaris Et Plantaris Disseminata|Porokeratosis Plantaris, Palmaris, Et Disseminata			PPPD1	Human only
132100	Photoparoxysmal Response; PPR	Photoconvulsive Reaction|Photosensitivity			PPR1	Human only
609572	Photoparoxysmal Response 2; PPR2	Photoparoxysmal Response with or without Idiopathic Generalized Epilepsy			PPR2	Human only
609573	Photoparoxysmal Response 3; PPR3	Photoparoxysmal Response with or without Myoclonic Epilepsy			PPR3	Human only
309500	Renpenning Syndrome 1; RENS1	Golabi-Ito-Hall Syndrome|Mental Retardation, X-Linked 55; MRX55|Mental Retardation, X-Linked, Renpenning Type|Mental Retardation, X-Linked, Syndromic 3; MRXS3|Mental Retardation, X-Linked, Syndromic 8; MRXS8|Mental Retardation, X-Linked, with Spastic Diplegia|Sutherland-Haan X-Linked Mental Retardation Syndrome; SHS	Pqbp1	MGI:1859638	PQBP1	Human only
261800	Pierre Robin Syndrome	Glossoptosis, Micrognathia, and Cleft Palate|Pierre Robin Sequence			PRBNS	Human only
605074	Renal Cell Carcinoma, Papillary, 1; RCCP1		Prcc	MGI:2137738	PRCC	Human only
610599	Retinitis Pigmentosa 36; RP36		Gm11744	MGI:3649529	PRCD	Human only
312550	Retinal Dysplasia, Primary; PRD				PRD	Human only
606407	Hypotonia-Cystinuria Syndrome	Cystinuria with Mitochondrial Disease	Prepl	MGI:2441932	PREPL	Human only
603553	Hemophagocytic Lymphohistiocytosis, Familial, 2; FHL2	HLH2|HPLH2	Prf1	MGI:97551	PRF1	Human only
605027	Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma; NHL	Prf1	MGI:97551	PRF1	Human only
612437	Epilepsy, Progressive Myoclonic, 1B; EPM1B		Prickle1	MGI:1916034	PRICKLE1	Human only
194200	Wolff-Parkinson-White Syndrome		Prkag2	MGI:1336153	PRKAG2	Human only
261740	Glycogen Storage Disease of Heart, Lethal Congenital	Glycogen Storage Disease of Heart|Phosphorylase Kinase Deficiency of Heart	Prkag2	MGI:1336153	PRKAG2	Human only
600858	Cardiomyopathy, Familial Hypertrophic, 6; CMH6		Prkag2	MGI:1336153	PRKAG2	Human only
604976	Protein Kinase, Amp-Activated, Noncatalytic, Gamma-3; PRKAG3		Prkag3	MGI:1891343	PRKAG3	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Prkar1a	MGI:104878	PRKAR1A	Human only
255960	Myxoma, Intracardiac	Atrial Myxoma, Familial	Prkar1a	MGI:104878	PRKAR1A	Human only
605361	Spinocerebellar Ataxia 14; SCA14		Prkcc	MGI:97597	PRKCG	Human only
601367	Stroke, Ischemic	Cerebral Infarction|Cerebrovascular Accident	Prkch	MGI:97600	PRKCH	Human only
174050	Polycystic Liver Disease; PCLD		Prkcsh	MGI:107877	PRKCSH	Human only
612067	Dystonia 16; DYT16		Prkra	MGI:1344375	PRKRA	Human only
603218	Huntington Disease-Like 1; HDL1	Huntington-Like Neurodegenerative Disorder 1; HLN1|Huntington-Like Neurodegenerative Disorder, Autosomal Dominant|Prion Disease, Early-Onset, with Prominent Psychiatric Features	Prnp	MGI:97769	PRNP	Human only
606688	Spongiform Encephalopathy with Neuropsychiatric Features		Prnp	MGI:97769	PRNP	Human only
176860	Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant	Protein C Deficiency, Autosomal Dominant	Proc	MGI:97771	PROC	Human only
612304	Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive	Proc Deficiency, Autosomal Recessive|Protein C Deficiency, Autosomal Recessive	Proc	MGI:97771	PROC	Human only
600850	Schizophrenia 4; SCZD4	Schizophrenia Susceptibility Locus, Chromosome 22q11-Related	Prodh	MGI:97770	PRODH	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Prok2	MGI:1354178	PROK2	Human only
610628	Kallmann Syndrome 4; KAL4		Prok2	MGI:1354178	PROK2	Human only
244200	Kallmann Syndrome 3; KAL3	Hypogonadotropic Hypogonadism and Anosmia	Prokr2	MGI:2181363	PROKR2	Human only
603786	Stargardt Disease 4; STGD4		Prom1	MGI:1100886	PROM1	Human only
608051	Macular Dystrophy, Retinal, 2; MCDR2		Prom1	MGI:1100886	PROM1	Human only
612657	Cone-Rod Dystrophy 12; CORD12		Prom1	MGI:1100886	PROM1	Human only
612336	Thrombophilia, Hereditary, Due to Protein S Deficiency, Autosomal Dominant Thrombophilia, Hereditary, Due to Protein S Deficiency, Autosomal		Pros1	MGI:1095733	PROS1	Human only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Prph	MGI:97774	PRPH	Human only
136880	Fundus Albipunctatus		Prph2	MGI:102791	PRPH2	Human only
169150	Patterned Dystrophy of Retinal Pigment Epithelium	Butterfly Dystrophy of Retinal Pigment Epithelium|Macular Dystrophy, Butterfly-Shaped Pigmentary	Prph2	MGI:102791	PRPH2	Human only
608161	Macular Dystrophy, Vitelliform, Adult-Onset	AVMD|Foveomacular Dystrophy, Adult-Onset, with Choroidal Neovascularization|Foveomacular Dystrophy, Adult-Onset; AOFMD|Vitelliform Macular Dystrophy, Adult-Onset	Prph2	MGI:102791	PRPH2	Human only
613105	Choroidal Dystrophy, Central Areolar 2; CACD2	Macular Dystrophy, Progressive	Prph2	MGI:102791	PRPH2	Human only
301835	Arts Syndrome; ARTS	Ataxia, Fatal X-Linked, with Deafness and Loss of Vision|Mental Retardation, X-Linked, Syndromic 18; MRXS18|Mental Retardation, X-Linked, Syndromic, Arts Type; MRXSARTS	Prps1	MGI:97775	PRPS1	Human only
304500	Deafness, X-Linked 1; DFNX1	Deafness, X-Linked 2, Sensorineural Congenital; DFN2	Prps1	MGI:97775	PRPS1	Human only
311070	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5; CMTX5	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5|Optic Atrophy, Polyneuropathy, and Deafness|Rosenberg-Chutorian Syndrome	Prps1	MGI:97775	PRPS1	Human only
300661	Phosphoribosylpyrophosphate Synthetase Superactivity		Prps1	MGI:97775	PRPS1	Human only
309610	Prieto X-Linked Mental Retardation Syndrome; PRS	Mental Retardation, X-Linked, Syndromic 2; MRXS2|Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy			PRS	Human only
167800	Pancreatitis, Hereditary; PCTT	HP|HPC	Prss1	MGI:98839	PRSS1	Human only
249500	Mental Retardation, Autosomal Recessive 1; MRT1		Prss12	MGI:1100881	PRSS12	Human only
145900	Hypertrophic Neuropathy of Dejerine-Sottas	Charcot-Marie-Tooth Disease, Demyelinating, Type 4F; CMT4F|Charcot-Marie-Tooth Disease, Type 3; CMT3|Dejerine-Sottas Neuropathy; DSN|Dejerine-Sottas Syndrome; DSS|Hereditary Motor and Sensory Neuropathy Type III; HMSN3	Prx	MGI:108176	PRX	Human only
610539	Gaucher Disease, Atypical, Due to Saposin C Deficiency		Psap	MGI:97783	PSAP	Human only
611721	Combined Saposin Deficiency	Combined Sap Deficiency|Prosaposin Deficiency; PSAPD	Psap	MGI:97783	PSAP	Human only
611722	Krabbe Disease, Atypical, Due to Saposin A Deficiency	Saposin A Deficiency	Psap	MGI:97783	PSAP	Human only
610992	Phosphoserine Aminotransferase Deficiency	Psat Deficiency|Psatd	Psat1	MGI:2183441	PSAT1	Human only
172700	Pick Disease of Brain	Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions|Lobar Atrophy of Brain	Psen1	MGI:1202717	PSEN1	Human only
600274	Frontotemporal Dementia; FTD	Dementia, Frontotemporal, with Parkinsonism|Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex; DDPAC|Frontotemporal Dementia with Parkinsonism|Frontotemporal Dementia-Amyotrophic Lateral Sclerosis; FTD-ALS|Frontotemporal Lobar Degeneration with Tau Inclusions|Frontotemporal Lobe Dementia; FLDEM|FTDP17|Ftld with Tau Inclusions|Multiple System Tauopathy with Presenile Dementia; MSTD|Wilhelmsen-Lynch Disease; WLD	Psen1	MGI:1202717	PSEN1	Human only
613694	Cardiomyopathy, Dilated, 1u; CMD1U		Psen1	MGI:1202717	PSEN1	Human only
613737	Acne Inversa, Familial, 3; ACNINV3		Psen1	MGI:1202717	PSEN1	Human only
613697	Cardiomyopathy, Dilated, 1v; CMD1V		Psen2	MGI:109284	PSEN2	Human only
613736	Acne Inversa, Familial, 2; ACNINV2		Psenen	MGI:1913590	PSENEN	Human only
609153	Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak	Pseudohyperkalemia Lille|PSHK2			PSHK2	Human only
609454	Supranuclear Palsy, Progressive, 2; PSNP2				PSNP2	Human only
610898	Supranuclear Palsy, Progressive, 3; PSNP3				PSNP3	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS10	Human only
612410	Psoriasis Susceptibility 10; PSORS10				PSORS10	Human only
612599	Psoriasis Susceptibility 11; PSORS11				PSORS11	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS2	Human only
602723	Psoriasis Susceptibility 2; PSORS2				PSORS2	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS3	Human only
601454	Psoriasis Susceptibility 3; PSORS3				PSORS3	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS4	Human only
603935	Psoriasis Susceptibility 4; PSORS4				PSORS4	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS5	Human only
604316	Psoriasis Susceptibility 5; PSORS5				PSORS5	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS6	Human only
605364	Psoriasis Susceptibility 6; PSORS6				PSORS6	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS7	Human only
605606	Psoriasis Susceptibility 7; PSORS7				PSORS7	Human only
610707	Psoriasis Susceptibility 8; PSORS8				PSORS8	Human only
177900	Psoriasis Susceptibility 1; PSORS1				PSORS9	Human only
607857	Psoriasis Susceptibility 9; PSORS9				PSORS9	Human only
601224	Potocki-Shaffer Syndrome	Chromosome 11p11.2 Deletion Syndrome|Defect11 Syndrome|Proximal 11p Deletion Syndrome; P11PDS|PSS			PSS	Human only
604416	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	Familial Recurrent Arthritis; FRA|PAPA Syndrome; PAPAS	Pstpip1	MGI:1321396	PSTPIP1	Human only
610828	Holoprosencephaly 7; HPE7		Ptch1	MGI:105373	PTCH1	Human only
605462	Basal Cell Carcinoma, Susceptibility to, 1; BCC1		Ptch2	MGI:1095405	PTCH2	Human only
613545	Macrostomia, Isolated	Commissural Cleft, Isolated|Lateral Cleft, Isolated|Transverse Cleft, Isolated	Ptch2	MGI:1095405	PTCH2	Human only
605642	Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia	PRN1|PTCPRN			PTCPRN	Human only
137800	Glioma Susceptibility 1; GLM1		Pten	MGI:109583	PTEN	Human only
155600	Melanoma, Cutaneous Malignant, Susceptibility to, 1; CMM1	B-K Mole Syndrome|Dysplastic Nevus Syndrome, Hereditary; DNS|Familial Atypical Mole-Malignant Melanoma Syndrome; FAMMM|Melanoma, Cutaneous Malignant; CMM MELANOMA, MALIGNANT|Melanoma, Familial; MLM	Pten	MGI:109583	PTEN	Human only
174900	Juvenile Polyposis Syndrome; JPS	Juvenile Intestinal Polyposis; JIP|Polyposis, Juvenile Intestinal; PJI	Pten	MGI:109583	PTEN	Human only
176920	Proteus Syndrome		Pten	MGI:109583	PTEN	Human only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Pten	MGI:109583	PTEN	Human only
276950	Vacterl Association with Hydrocephalus		Pten	MGI:109583	PTEN	Human only
605309	Macrocephaly/Autism Syndrome		Pten	MGI:109583	PTEN	Human only
607174	Meningioma, Familial		Pten	MGI:109583	PTEN	Human only
612242	Chromosome 10q23 Deletion Syndrome		Pten	MGI:109583	PTEN	Human only
613028	Glioma Susceptibility 2; GLM2		Pten	MGI:109583	PTEN	Human only
601728	Phosphatase and Tensin Homolog; PTEN	Mutated in Multiple Advanced Cancers 1; MMAC1|Pten1	Pten	MGI:109583	PTEN	Human only
609069	Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis	Pancreatic and Cerebellar Agenesis	Ptf1a	MGI:1328312	PTF1A	Human only
607277	Asthma-Related Traits, Susceptibility to, 1	AS1|Asrt1	Ptgdr	MGI:102966	PTGDR	Human only
208550	Asthma, Nasal Polyps, and Aspirin Intolerance		Ptger2	MGI:97794	PTGER2	Human only
145500	Hypertension, Essential	EHT	Ptgis	MGI:1097156	PTGIS	Human only
146200	Hypoparathyroidism, Familial Isolated; FIH	Hypocalcemia, Autosomal Dominant|Hypocalcemia, Familial|Hypoparathyroidism, Autosomal Dominant	Pth	MGI:97799	PTH	Human only
125350	Failure of Tooth Eruption, Primary; PFE	Dental Noneruption|Posterior Openbite, Familial|Primary Failure of Eruption, Nonsyndromic|Primary Retention of Teeth|Unerupted Second Primary Molar	Pth1r	MGI:97801	PTH1R	Human only
156400	Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type	Pth1r	MGI:97801	PTH1R	Human only
166000	Enchondromatosis, Multiple	Ollier Disease|Osteochondromatosis	Pth1r	MGI:97801	PTH1R	Human only
215045	Chondrodysplasia, Blomstrand Type; BOCD		Pth1r	MGI:97801	PTH1R	Human only
600002	Eiken Skeletal Dysplasia	Bone Modeling Defect of Hands and Feet	Pth1r	MGI:97801	PTH1R	Human only
168470	Parathyroid Hormone-Like Hormone; PTHLH	Parathyroid Hormone-Related Protein; PTHRP|PTH-Related Protein	Pthlh	MGI:97800	PTHLH	Human only
613382	Brachydactyly, Type E2; BDE2		Pthlh	MGI:97800	PTHLH	Human only
168860	Patella Aplasia-Hypoplasia; PTLAH				PTLAH	Human only
610883	Potocki-Lupski Syndrome; PTLS	Chromosome 17p11.2 Duplication Syndrome			PTLS	Human only
178300	Ptosis, Hereditary Congenital 1; PTOS1				PTOS1	Human only
300245	Ptosis, Hereditary Congenital 2	PTOS2|Ptosis, X-Linked; PTOSX			PTOS2	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Ptpn1	MGI:97805	PTPN1	Human only
156250	Metachondromatosis		Ptpn11	MGI:99511	PTPN11	Human only
613611	Choanal Atresia and Lymphedema		Ptpn14	MGI:102467	PTPN14	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Ptpn22	MGI:107170	PTPN22	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Ptpn22	MGI:107170	PTPN22	Human only
126200	Multiple Sclerosis, Susceptibility To; MS		Ptprc	MGI:97810	PTPRC	Human only
608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive	Ptprc	MGI:97810	PTPRC	Human only
609532	Hepatitis C Virus, Susceptibility to		Ptprc	MGI:97810	PTPRC	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Ptprj	MGI:104574	PTPRJ	Human only
613391	Deafness, Autosomal Recessive 84; DFNB84	Deafness, Autosomal Recessive 84, with Vestibular Dysfunction	Ptprq	MGI:1096349	PTPRQ	Human only
600263	Helicobacter Pylori Infection, Susceptibility to		Ptprz1	MGI:97816	PTPRZ1	Human only
143400	Multicystic Renal Dysplasia, Bilateral; MCRD	Hydronephrosis Due to Pujo|Mrd|Pelviureteric Junction Obstruction; PUJO			PUJO	Human only
600462	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1; MLASA1	Mitochondrial Myopathy and Sideroblastic Anemia	Pus1	MGI:1929237	PUS1	Human only
608098	Heterotopia, Periventricular, Associated with Chromosome 5p Anomalies	Periventricular Nodular Heterotopia 3; PVNH3			PVNH3	Human only
612881	Heterotopia, Periventricular, Associated with Chromosome 5q Deletion	Periventricular Nodular Heterotopia 5; PVNH5			PVNH5	Human only
176780	Pelvic Organ Prolapse, Susceptibility to	Prolapse of Vagina and Rectum|Rectal Prolapse			PVOP1	Human only
613088	Pelvic Organ Prolapse, Susceptibility to, 2	Pvop2			PVOP2	Human only
225000	Rosselli-Gulienetti Syndrome		Pvrl1	MGI:1926483	PVRL1	Human only
225060	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome; CLPED1	Ectodermal Dysplasia, Margarita Island Type|Ectodermal Dysplasia, Type 4; ED4|Zlotogora-Ogur Syndrome	Pvrl1	MGI:1926483	PVRL1	Human only
613573	Ectodermal Dysplasia-Syndactyly Syndrome 1; EDSS1		Pvrl4	MGI:1918990	PVRL4	Human only
612940	Cutis Laxa, Autosomal Recessive, Type IIB; ARCL2B	Cutis Laxa with Progeroid Features	Pycr1	MGI:2384795	PYCR1	Human only
232700	Glycogen Storage Disease VI	Gsd Vi; GSD6|HERS Disease|Phosphorylase Deficiency Glycogen-Storage Disease of Liver	Pygl	MGI:97829	PYGL	Human only
232600	Glycogen Storage Disease V	Gsd V; GSD5|Mcardle Disease|Muscle Glycogen Phosphorylase Deficiency|Myophosphorylase Deficiency|PYGM Deficiency	Pygm	MGI:97830	PYGM	Human only
601665	Obesity		Pyy	MGI:99924	PYY	Human only
600781	Peptide Yy; PYY		Pyy	MGI:99924	PYY	Human only
261630	Hyperphenylalaninemia, Bh4-Deficient, C; HPABH4C	Dhpr Deficiency|Dihydropteridine Reductase Deficiency|Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Dhpr Deficiency|Qdpr Deficiency|Quinoid Dihydropteridine Reductase Deficiency	Qdpr	MGI:97836	QDPR	Human only
610141	Qt Interval, Variation in				QTV	Human only
201000	Carpenter Syndrome	ACPS II|Acrocephalopolysyndactyly Type II	Rab23	MGI:99833	RAB23	Human only
607624	Griscelli Syndrome, Type 2; GS2	Griscelli Syndrome with Hemophagocytic Syndrome|Paid Syndrome|Partial Albinism and Immunodeficiency Syndrome	Rab27a	MGI:1861441	RAB27A	Human only
300271	Mental Retardation, X-Linked 72; MRX72		Rab39b	MGI:1915040	RAB39B	Human only
600118	Warburg Micro Syndrome 1; WARBM1	Micro Syndrome	Rab3gap1	MGI:2445001	RAB3GAP1	Human only
212720	Martsolf Syndrome	Cataract-Mental Retardation-Hypogonadism	Rab3gap2	MGI:1916043	RAB3GAP2	Human only
600882	Charcot-Marie-Tooth Disease, Axonal, Type 2B; CMT2B	Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B|Charcot-Marie-Tooth Neuropathy, Type 2B|Hereditary Motor and Sensory Neuropathy IIB; HMSN IIB|HMSN2B	Rab7	MGI:105068	RAB7A	Human only
608203	Neutrophil Immunodeficiency Syndrome		Rac2	MGI:97846	RAC2	Human only
613078	Nijmegen Breakage Syndrome-Like Disorder; NBSLD	Microcephaly and Spontaneous Chromosome Instability without Immunodeficiency|Nbs-Like Disorder|Rad50 Deficiency	Rad50	MGI:109292	RAD50	Human only
114480	Breast Cancer		Rad51	MGI:97890	RAD51	Human only
613390	Fanconi Anemia, Complementation Group O; FANCO		Rad51c	MGI:2150020	RAD51C	Human only
613399	Breast-Ovarian Cancer, Familial, Susceptibility to, 3; BROVCA3		Rad51c	MGI:2150020	RAD51C	Human only
114480	Breast Cancer		Rad54l	MGI:894697	RAD54L	Human only
605027	Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma; NHL	Rad54l	MGI:894697	RAD54L	Human only
611554	Leopard Syndrome 2		Raf1	MGI:97847	RAF1	Human only
233650	Combined Cellular and Humoral Immune Defects with Granulomas; CCHIDG		Rag1	MGI:97848	RAG1	Human only
601457	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	SCID, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Rag1	MGI:97848	RAG1	Human only
603554	Omenn Syndrome	Reticuloendotheliosis, Familial, with Eosinophilia|Severe Combined Immunodeficiency with Hypereosinophilia	Rag1	MGI:97848	RAG1	Human only
609889	Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity		Rag1	MGI:97848	RAG1	Human only
233650	Combined Cellular and Humoral Immune Defects with Granulomas; CCHIDG		Rag2	MGI:97849	RAG2	Human only
608033	Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To; IIAE3	Encephalopathy, Acute Necrotizing, Susceptibility To; ANE	Ranbp2	MGI:894323	RANBP2	Human only
208150	Fetal Akinesia Deformation Sequence; FADS	Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia|Fetal Akinesia Sequence|Pena-Shokeir Syndrome, Type I	Rapsn	MGI:99422	RAPSN	Human only
608931	Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency|Myasthenic Syndrome, Congenital, Type ID; CMS1D	Rapsn	MGI:99422	RAPSN	Human only
612376	Acute Promyelocytic Leukemia; APL	Leukemia, Acute Promyelocytic	Rara	MGI:97856	RARA	Human only
611523	Pontocerebellar Hypoplasia, Type 6; PCH6	Encephalopathy, Fatal Infantile, with Mitochondrial Respiratory Chain Defects	Rars2	MGI:1923596	RARS2	Human only
605462	Basal Cell Carcinoma, Susceptibility to, 1; BCC1		Rasa1	MGI:97860	RASA1	Human only
608354	Capillary Malformation-Arteriovenous Malformation		Rasa1	MGI:97860	RASA1	Human only
608355	Parkes Weber Syndrome	PKWS	Rasa1	MGI:97860	RASA1	Human only
211980	Lung Cancer		Rassf1	MGI:1928386	RASSF1	Human only
611038	Microphthalmia, Isolated 3; MCOP3		Rax	MGI:109632	RAX	Human only
610381	Cone-Rod Dystrophy 11; CORD11				RAX2	Human only
109800	Bladder Cancer		Rb1	MGI:97874	RB1	Human only
259500	Osteogenic Sarcoma	Osteosarcoma; OSRC	Rb1	MGI:97874	RB1	Human only
114480	Breast Cancer		Rb1cc1	MGI:1341850	RB1CC1	Human only
311900	TARP Syndrome; TARPS	Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot|Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava	Rbm10	MGI:2384310	RBM10	Human only
613172	Cardiomyopathy, Dilated, 1dd; CMD1DD		Rbm20	MGI:1920963	RBM20	Human only
612079	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	Ane Syndrome	Rbm28	MGI:2655711	RBM28	Human only
415000	Spermatogenic Failure, Y-Linked, 2; SPGFY2	Azoospermia, Nonobstructive, Y-Linked|Oligospermia, Nonobstructive, Y-Linked|Oligozoospermia, Nonobstructive, Y-Linked|Spermatogenic Failure, Nonobstructive, Y-Linked	Rbmy1a1	MGI:104732	RBMY1A1	Human only
180250	Retinol-Binding Protein 4; RBP4		Rbp4	MGI:97879	RBP4	Human only
103780	Alcohol Dependence	Alcoholism	Rcbtb1	MGI:1918580	RCBTB1	Human only
180020	Retinal Cone Dystrophy 1; RCD1	Cone Dystrophy, Autosomal Dominant|Retinal Cone Degeneration			RCD1	Human only
613328	Roifman-Chitayat Syndrome	Combined Immunodeficiency, Facial Dysmorphism, Optic Nerve Atrophy, Skeletal Anomalies, and Developmental Delay			RCHTS	Human only
609578	Cardiomyopathy, Familial Restrictive, 2; RCM2				RCM2	Human only
610612	Leber Congenital Amaurosis 12; LCA12		Rd3	MGI:1921273	RD3	Human only
604232	Leber Congenital Amaurosis 3; LCA3		Rdh12	MGI:1925224	RDH12	Human only
612712	Leber Congenital Amaurosis 13; LCA13	Retinitis Pigmentosa 53; RP53	Rdh12	MGI:1925224	RDH12	Human only
136880	Fundus Albipunctatus		Rdh5	MGI:1201412	RDH5	Human only
600964	Refsum Disease with Increased Pipecolic Acidemia; RDPA				RDPA	Human only
611022	Deafness, Autosomal Recessive 24; DFNB24		Rdx	MGI:97887	RDX	Human only
218600	Baller-Gerold Syndrome; BGS	Craniosynostosis with Radial Defects|Craniosynostosis-Radial Aplasia Syndrome	Recql4	MGI:1931028	RECQL4	Human only
266280	Rapadilino Syndrome		Recql4	MGI:1931028	RECQL4	Human only
610250	Spastic Paraplegia 31, Autosomal Dominant; SPG31		Reep1	MGI:1098827	REEP1	Human only
257320	Lissencephaly 2; LIS2	Lissencephaly Syndrome, Norman-Roberts Type|Norman-Roberts Syndrome	Reln	MGI:103022	RELN	Human only
267430	Renal Tubular Dysgenesis; RTD		Ren1	MGI:97898	REN	Human only
613092	Hyperuricemic Nephropathy, Familial Juvenile, 2; HNFJ2	Early-Onset Hyperuricemia, Anemia, and Progressive Kidney Failure	Ren1	MGI:97898	REN	Human only
155240	Thyroid Carcinoma, Familial Medullary; MTC	Fmtc|MTC1	Ret	MGI:97902	RET	Human only
171400	Multiple Endocrine Neoplasia, Type IIA; MEN2A	Pheochromocytoma and Amyloid-Producing Medullary Thyroid Carcinoma|PTC Syndrome	Ret	MGI:97902	RET	Human only
191830	Renal Adysplasia	Renal Agenesis|Renal Aplasia	Ret	MGI:97902	RET	Human only
209880	Central Hypoventilation Syndrome, Congenital; CCHS		Ret	MGI:97902	RET	Human only
164761	Rearranged During Transfection Protooncogene; RET		Ret	MGI:97902	RET	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Retn	MGI:1888506	RETN	Human only
161900	Renal Failure, Progressive, with Hypertension	Nephritis, Familial, without Deafness or Ocular Defect|Nephropathy, Familial|Renal Failure, Adult-Onset; AORF|RFH1			RFH1	Human only
300258	Roifman Syndrome	Spondyloepiphseal Dysplasia, Retinal Dystrophy, and Antibody Deficiency			RFMN	Human only
612015	Congenital Disorder of Glycosylation, Type In; CDG1N	Cdg In; CDGIN	Rft1	MGI:3607791	RFT1	Human only
209920	Bare Lymphocyte Syndrome, Type II	Bare Lymphocyte Syndrome; BLS|BLS, Type II|Severe Combined Immunodeficiency, Hla Class Ii-Negative	Rfx5	MGI:1858421	RFX5	Human only
209920	Bare Lymphocyte Syndrome, Type II	Bare Lymphocyte Syndrome; BLS|BLS, Type II|Severe Combined Immunodeficiency, Hla Class Ii-Negative	Rfxank	MGI:1333865	RFXANK	Human only
209920	Bare Lymphocyte Syndrome, Type II	Bare Lymphocyte Syndrome; BLS|BLS, Type II|Severe Combined Immunodeficiency, Hla Class Ii-Negative	Rfxap	MGI:2180854	RFXAP	Human only
604906	Schizophrenia 9; SCZD9	Schizophrenia Susceptibility Locus, Chromosome 1q42-Related	Rgs4	MGI:108409	RGS4	Human only
145500	Hypertension, Essential	EHT	Rgs5	MGI:1098434	RGS5	Human only
608415	Prolonged Electroretinal Response Suppression; PERRS	Bradyopsia	Rgs9	MGI:1338824	RGS9	Human only
608415	Prolonged Electroretinal Response Suppression; PERRS	Bradyopsia	Rgs9bp	MGI:2384418	RGS9BP	Human only
268150	Rh-Null, Regulator Type; RHN		Rhag	MGI:1202713	RHAG	Human only
610805	Renal Hypodysplasia, Nonsyndromic, 1				RHDNS1	Human only
136880	Fundus Albipunctatus		Rho	MGI:97914	RHO	Human only
610445	Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1	Night Blindness, Congenital Stationary, Rhodopsin-Related	Rho	MGI:97914	RHO	Human only
613731	Retinitis Pigmentosa 4; RP4	Retinitis Pigmentosa, Rhodopsin-Related	Rho	MGI:97914	RHO	Human only
601499	Axenfeld-Rieger Syndrome, Type 2; RIEG2	Rieger Syndrome, Type 2			RIEG2	Human only
603649	Cone-Rod Dystrophy 7; CORD7		Rims1	MGI:2152971	RIMS1	Human only
613075	Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis	Macs Syndrome	Rin2	MGI:1921280	RIN2	Human only
613658	Rajab Syndrome	Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications			RJBS	Human only
136880	Fundus Albipunctatus		Rlbp1	MGI:97930	RLBP1	Human only
268000	Retinitis Pigmentosa; RP		Rlbp1	MGI:97930	RLBP1	Human only
607476	Newfoundland Rod-Cone Dystrophy; NFRCD		Rlbp1	MGI:97930	RLBP1	Human only
102300	Restless Legs Syndrome, Susceptibility to, 1; RLS1	Acromelalgia, Hereditary|Ekbom Syndrome			RLS	Human only
608831	Restless Legs Syndrome, Susceptibility to, 2	RLS2			RLS2	Human only
610438	Restless Legs Syndrome, Susceptibility to, 3	Rls3			RLS3	Human only
610439	Restless Legs Syndrome, Susceptibility to, 4	Rls4			RLS4	Human only
611242	Restless Legs Syndrome, Susceptibility to, 5	Rls5			RLS5	Human only
611185	Restless Legs Syndrome, Susceptibility to, 6	Periodic Limb Movements in Sleep|Rls6			RLS6	Human only
612853	Restless Legs Syndrome, Susceptibility to, 7	Rls7			RLS7	Human only
600332	Rippling Muscle Disease 1; RMD1				RMD1	Human only
606072	Rippling Muscle Disease; RMD				RMD1	Human only
250250	Cartilage-Hair Hypoplasia; CHH	Metaphyseal Chondrodysplasia, Mckusick Type	Rmrp	MGI:97937	RMRP	Human only
250460	Metaphyseal Dysplasia without Hypotrichosis	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only; CHHV|Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency	Rmrp	MGI:97937	RMRP	Human only
607095	Anauxetic Dysplasia	Spondylometaepiphyseal Dysplasia, Anauxetic Type|Spondylometaepiphyseal Dysplasia, Menger Type	Rmrp	MGI:97937	RMRP	Human only
221900	Retinal Nonattachment, Nonsyndromic Congenital; RNANC	NCRNA|Retinal Detachment, Congenital			RNANC	Human only
610333	Aicardi-Goutieres Syndrome 4; AGS4		Rnaseh2a	MGI:1916974	RNASEH2A	Human only
610181	Aicardi-Goutieres Syndrome 2; AGS2		Rnaseh2b	MGI:1914403	RNASEH2B	Human only
610329	Aicardi-Goutieres Syndrome 3; AGS3		Rnaseh2c	MGI:1915459	RNASEH2C	Human only
601518	Prostate Cancer, Hereditary, 1; HPC1	PRCA1	Rnasel	MGI:1098272	RNASEL	Human only
612951	Leukoencephalopathy, Cystic, without Megalencephaly		Rnaset2a	MGI:1915445	RNASET2	Human only
612950	Psoriasis Susceptibility 12; PSORS12		Rnf114	MGI:1933159	RNF114	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Rnf139	MGI:1923091	RNF139	Human only
611943	Riddle Syndrome	Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties	Rnf168	MGI:1917488	RNF168	Human only
133239	Esophageal Cancer		Rnf6	MGI:1921382	RNF6	Human only
610878	Vesicoureteral Reflux 2; VUR2		Robo2	MGI:1890110	ROBO2	Human only
607313	Gaze Palsy, Familial Horizontal, with Progressive Scoliosis; HGPPS		Robo3	MGI:1343102	ROBO3	Human only
113000	Brachydactyly, Type B1; BDB1	Brachydactyly, Type B; BDB	Ror2	MGI:1347521	ROR2	Human only
145750	Hypertriglyceridemia, Familial		Rp1	MGI:1341105	RP1	Human only
613587	Occult Macular Dystrophy; OCMD	Omd	Rp1l1	MGI:2384303	RP1L1	Human only
312600	Retinitis Pigmentosa 2; RP2		Rp2h	MGI:1277953	RP2	Human only
300578	Chromosome Xp11.3 Deletion Syndrome	Mental Retardation, X-Linked, with Retinitis Pigmentosa	Rp2h	MGI:1277953	RP2	Human only
602594	Retinitis Pigmentosa 22; RP22				RP22	Human only
300424	Retinitis Pigmentosa 23; RP23				RP23	Human only
300155	Retinitis Pigmentosa 24; RP24				RP24	Human only
612165	Retinitis Pigmentosa 29; RP29				RP29	Human only
609913	Retinitis Pigmentosa 32; RP32				RP32	Human only
300605	Retinitis Pigmentosa 34; RP34				RP34	Human only
312612	Retinitis Pigmentosa 6; RP6	Retinitis Pigmentosa, X-Linked Recessive, 6			RP6	Human only
180104	Retinitis Pigmentosa 9; RP9		Rp9	MGI:2157166	RP9	Human only
300455	Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or without Deafness		Rpgr	MGI:1344037	RPGR	Human only
608194	Cone-Rod Dystrophy 13; CORD13		Rpgrip1	MGI:1932134	RPGRIP1	Human only
216360	COACH Syndrome	Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis|Joubert Syndrome with Congenital Hepatic Fibrosis	Rpgrip1l	MGI:1920563	RPGRIP1L	Human only
611560	Joubert Syndrome 7; JBTS7		Rpgrip1l	MGI:1920563	RPGRIP1L	Human only
611561	Meckel Syndrome, Type 5; MKS5		Rpgrip1l	MGI:1920563	RPGRIP1L	Human only
608611	Ribose 5-Phosphate Isomerase Deficiency		Rpia	MGI:103254	RPIA	Human only
612562	Diamond-Blackfan Anemia 7; DBA7		Rpl11	MGI:1914275	RPL11	Human only
612528	Diamond-Blackfan Anemia 5; DBA5		Rpl35a	MGI:1928894	RPL35A	Human only
612561	Diamond-Blackfan Anemia 6; DBA6	Aase Syndrome|Aase-Smith Syndrome II	Rpl5	MGI:102854	RPL5	Human only
613308	Diamond-Blackfan Anemia 9; DBA9		Rps10	MGI:1914347	RPS10	Human only
153550	Chromosome 5q Deletion Syndrome	5q- Syndrome	Rps14	MGI:98107	RPS14	Human only
612527	Diamond-Blackfan Anemia 4; DBA4		Rps17	MGI:1309526	RPS17	Human only
105650	Diamond-Blackfan Anemia; DBA	Aase-Smith Syndrome II|Anemia, Congenital Erythroid Hypoplastic|Anemia, Congenital Hypoplastic, of Blackfan and Diamond|Aregenerative Anemia, Chronic Congenital|Blackfan-Diamond Syndrome; BDS|Erythrogenesis Imperfecta|Red Cell Aplasia, Pure, Hereditary	Rps19	MGI:1333780	RPS19	Human only
610629	Diamond-Blackfan Anemia 3; DBA3		Rps24	MGI:98147	RPS24	Human only
613309	Diamond-Blackfan Anemia 10; DBA10		Rps26	MGI:1351628	RPS26	Human only
612563	Diamond-Blackfan Anemia 8; DBA8		Rps7	MGI:1333818	RPS7	Human only
400004	Retinitis Pigmentosa, Y-Linked; RPY				RPY	Human only
300378	Radial Ray Deficiency, X-Linked	Rrdx			RRDX	Human only
612075	Mitochondrial DNA Depletion Syndrome 8a (encephalomyopathic Type with Renal Tubulopathy); MTDPS8A		Rrm2b	MGI:2155865	RRM2B	Human only
613077	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 5; PEOA5	Progressive External Ophthalmoplegia, Autosomal Dominant, 5	Rrm2b	MGI:2155865	RRM2B	Human only
605463	Radiation Sensitivity/Chromosome Instability Syndrome, Autosomal Dominant				RSCIS	Human only
612649	Ciliary Dyskinesia, Primary, 11; CILD11		Rsph4a	MGI:3027894	RSPH4A	Human only
612650	Ciliary Dyskinesia, Primary, 12; CILD12		Rsph9	MGI:1922814	RSPH9	Human only
610644	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal		Rspo1	MGI:2183426	RSPO1	Human only
206800	Nail Disorder, Nonsyndromic Congenital, 4; NDNC4	Anonychia Totalis|Anonychia/Hyponychia Congenita	Rspo4	MGI:1924467	RSPO4	Human only
180860	Silver-Russell Syndrome; SRS	Russell-Silver Syndrome; RSS|Silver-Russell Dwarfism			RSS	Human only
610543	Chromosome 16p13.3 Deletion Syndrome	Rsts Deletion Syndrome|Rubinstein-Taybi Deletion Syndrome			RSTSS	Human only
137800	Glioma Susceptibility 1; GLM1				RTE1	Human only
181500	Schizophrenia; SCZD		Rtn4r	MGI:2136886	RTN4R	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Runx1	MGI:99852	RUNX1	Human only
601399	Platelet Disorder, Familial, with Associated Myeloid Malignancy	FPDMM|Platelet Disorder, Aspirin-Like|Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia; FPD/AML	Runx1	MGI:99852	RUNX1	Human only
601626	Leukemia, Acute Myeloid; AML		Runx1	MGI:99852	RUNX1	Human only
179450	Ragweed Sensitivity				RWS	Human only
219050	Cryptorchidism, Unilateral or Bilateral	Cryptorchidism|Undescended Testis	Rxfp2	MGI:2153463	RXFP2	Human only
270550	Spastic Ataxia, Charlevoix-Saguenay Type; SACS	Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; ARSACS|Charlevoix-Saguenay Spastic Ataxia	Sacs	MGI:1354724	SACS	Human only
258100	Oguchi Disease 1	Night Blindness, Congenital Stationary, Oguchi Type 1	Sag	MGI:98227	SAG	Human only
147750	IVIC Syndrome	Oculootoradial Syndrome; OORS|Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia	Sall4	MGI:2139360	SALL4	Human only
610455	Tumoral Calcinosis, Normophosphatemic, Familial; NFTC	Calcinosis, Tumoral, with Normophosphatemia			SAMD9	Human only
612952	Aicardi-Goutieres Syndrome 5; AGS5		Samhd1	MGI:1927468	SAMHD1	Human only
246700	Chylomicron Retention Disease; CMRD	Anderson Disease; ANDD|Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells|Lipid Transport Defect of Intestine	Sar1b	MGI:1913647	SAR1B	Human only
268900	Sarcosinemia	Hypersarcosinemia|Sarcosine Dehydrogenase Complex Deficiency|SARD Deficiency|Sardh Deficiency; SARDHD	Sardh	MGI:2183102	SARDH	Human only
175900	Porokeratosis, Disseminated Superficial Actinic, 1; DSAP1	DSAP	Sart3	MGI:1858230	SART3	Human only
308800	Keratosis Follicularis Spinulosa Decalvans, X-Linked; KFSDX	Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi	Sat1	MGI:98233	SAT1	Human only
108600	Ataxia, Spastic, 1, Autosomal Dominant; SPAX1				SAX1	Human only
611302	Ataxia, Spastic, 2, Autosomal Recessive; SPAX2				SAX2	Human only
260400	Shwachman-Diamond Syndrome; SDS	Lipomatosis of Pancreas, Congenital|Pancreatic Insufficiency and Bone Marrow Dysfunction|Shwachman-Bodian Syndrome	Sbds	MGI:1913961	SBDS	Human only
607458	Spinocerebellar Ataxia 18; SCA18	Sensorimotor Neuropathy with Ataxia, Autosomal Dominant; SMNA			SCA18	Human only
607346	Spinocerebellar Ataxia 19; SCA19	Spinocerebellar Ataxia 22; SCA22			SCA19	Human only
608687	Spinocerebellar Ataxia 20; SCA20	Chromosome 11q12 Duplication Syndrome, 260-Kb|Spinocerebellar Ataxia with Dysphonia|Spinocerebellar Ataxia with Spasmodic Cough			SCA20	Human only
607454	Spinocerebellar Ataxia 21; SCA21				SCA21	Human only
608703	Spinocerebellar Ataxia 25; SCA25				SCA25	Human only
609306	Spinocerebellar Ataxia 26; SCA26				SCA26	Human only
117360	Spinocerebellar Ataxia 29; SCA29	Aplasia of Cerebellar Vermis; ACV|Cerebellar Ataxia, Congenital, Nonprogressive, Autosomal Dominant|Cerebellar Vermis Aplasia			SCA29	Human only
613371	Spinocerebellar Ataxia 30; SCA30				SCA30	Human only
117210	Spinocerebellar Ataxia 31; SCA31	Spinocerebellar Ataxia, 16q22-Linked			SCA31	Human only
612876	Spinocerebellar Ataxia 9; SCA9				SCA9	Human only
213200	Spinocerebellar Ataxia, Autosomal Recessive 2; SCAR2	Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital|Cerebellar Hypoplasia, Nonprogressive Norman Type|Cerebelloparenchymal Disorder III|CPD III; CPD3			SCAR2	Human only
271250	Spinocerebellar Ataxia, Autosomal Recessive 3; SCAR3	Spinocerebellar Ataxia with Blindness and Deafness; SCABD			SCAR3	Human only
609270	Spinocerebellar Ataxia, Autosomal Recessive 7; SCAR7				SCAR7	Human only
610762	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6; HDLCQ6		Scarb1	MGI:893578	SCARB1	Human only
254900	Epilepsy, Progressive Myoclonic 4, with or without Renal Failure;	Action Myoclonus-Renal Failure Syndrome; AMRF|Epm4|Myoclonus-Nephropathy Syndrome	Scarb2	MGI:1196458	SCARB2	Human only
607317	Spinocerebellar Ataxia, Autosomal Recessive 4; SCAR4	Spinocerebellar Ataxia 24, Formerly; SCA24, FORMERLY|Spinocerebellar Ataxia with Saccadic Intrusions; SCASI			SCASI	Human only
302500	Spinocerebellar Ataxia, X-Linked 1; SCAX1	Olivopontocerebellar Atrophy, X-Linked|Opca, X-Linked; OPCAX			SCAX1	Human only
302600	Spinocerebellar Ataxia, X-Linked 2	Cerebellar Ataxia with Extrapyramidal Involvement, Early-Onset|Scax2			SCAX2	Human only
301790	Spinocerebellar Ataxia, X-Linked 3	Ataxia-Deafness Syndrome, X-Linked|Scax3			SCAX3	Human only
301840	Spinocerebellar Ataxia, X-Linked 4	Ataxia-Dementia Syndrome, X-Linked|Scax4			SCAX4	Human only
300703	Spinocerebellar Ataxia, X-Linked 5; SCAX5				SCAX5	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Scgb1a1	MGI:98919	SCGB1A1	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Scgb3a2	MGI:2153470	SCGB3A2	Human only
606744	Seckel Syndrome 2; SCKL2	Bird-Headed Dwarfism 2|Microcephalic Primordial Dwarfism 2|Seckel-Type Dwarfism 2			SCKL2	Human only
608664	Seckel Syndrome 3; SCKL3				SCKL3	Human only
182280	Small Cell Cancer of the Lung	SCLC; SCCL|SCLC1			SCLC1	Human only
613523	Chromosome 8p11 Myeloproliferative Syndrome	Stem Cell Leukemia/Lymphoma; SCLL			SCLL	Human only
604403	Generalized Epilepsy with Febrile Seizures Plus, Type 2; GEFSP2		Scn1a	MGI:98246	SCN1A	Human only
609634	Migraine, Familial Hemiplegic, 3; FHM3		Scn1a	MGI:98246	SCN1A	Human only
612838	Brugada Syndrome 5; BRGDA5		Scn1b	MGI:98247	SCN1B	Human only
607745	Seizures, Benign Familial Infantile, 3; BFIS3	Convulsions, Benign Familial Infantile, 3; BFIC3|Seizures, Benign Familial Neonatal-Infantile; BFNIS			SCN2A	Human only
613721	Epileptic Encephalopathy, Early Infantile, 11; EIEE11				SCN2A	Human only
168300	Paramyotonia Congenita of Von Eulenburg; PMC		Scn4a	MGI:98250	SCN4A	Human only
170400	Hypokalemic Periodic Paralysis, Type 1; HOKPP1	Hypokalemic Periodic Paralysis; HOKPP	Scn4a	MGI:98250	SCN4A	Human only
608390	Myotonia, Potassium-Aggravated	Myotonia Congenita, Acetazolamide-Responsive|Myotonia Fluctuans|Myotonia Permanens|Sodium Channel Muscle Disease	Scn4a	MGI:98250	SCN4A	Human only
611819	Long Qt Syndrome 10; LQT10		Scn4b	MGI:2687406	SCN4B	Human only
272120	Sudden Infant Death Syndrome	SIDS	Scn5a	MGI:98251	SCN5A	Human only
601154	Cardiomyopathy, Dilated, 1E; CMD1E	Cardiomyopathy, Dilated, with Conduction Defect 2; CDCD2|Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia	Scn5a	MGI:98251	SCN5A	Human only
603829	Ventricular Fibrillation During Myocardial Infarction, Susceptibility to	Ventricular Fibrillation, Paroxysmal Familial, 1; VF1	Scn5a	MGI:98251	SCN5A	Human only
608567	Sick Sinus Syndrome 1, Autosomal Recessive; SSS1	Sick Sinus Syndrome, Congenital|Sinus Bradycardia Syndrome, Familial|Sinus Node Disease, Familial, Autosomal Recessive|Sinus Rhythm, Congenital Absence of	Scn5a	MGI:98251	SCN5A	Human only
133020	Erythermalgia, Primary	Erythromelalgia, Primary	Scn9a	MGI:107636	SCN9A	Human only
167400	Paroxysmal Extreme Pain Disorder	Pain, Submandibular, Ocular, and Rectal, with Flushing|Pexpd; PEPD|Rectal Pain, Familial	Scn9a	MGI:107636	SCN9A	Human only
243000	Indifference to Pain, Congenital, Autosomal Recessive	Asymbolia for Pain|Congenital Analgesia, Autosomal Recessive|Insensitivity to Pain, Channelopathy-Associated	Scn9a	MGI:107636	SCN9A	Human only
604403	Generalized Epilepsy with Febrile Seizures Plus, Type 2; GEFSP2		Scn9a	MGI:107636	SCN9A	Human only
264350	Pseudohypoaldosteronism, Type I, Autosomal Recessive; PHA1B	Pha I, Autosomal Recessive	Scnn1a	MGI:101782	SCNN1A	Human only
613021	Bronchiectasis with or without Elevated Sweat Chloride 2; BESC2	Cystic Fibrosis-Like Syndrome	Scnn1a	MGI:101782	SCNN1A	Human only
211400	Bronchiectasis with or without Elevated Sweat Chloride 1; BESC1	Cystic Fibrosis-Like Syndrome	Scnn1b	MGI:104696	SCNN1B	Human only
177200	Liddle Syndrome	Pseudoaldosteronism	Scnn1g	MGI:104695	SCNN1G	Human only
613071	Bronchiectasis with or without Elevated Sweat Chloride 3; BESC3	Cystic Fibrosis-Like Syndrome	Scnn1g	MGI:104695	SCNN1G	Human only
400042	Spermatogenic Failure, Y-Linked, 1; SPGFY1	Sertoli Cell-Only Syndrome, Y-Linked			SCO	Human only
604377	Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency	Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy	Sco2	MGI:3818630	SCO2	Human only
613724	Leukoencephalopathy with Dystonia and Motor Neuropathy	Sterol Carrier Protein 2 Deficiency	Scp2	MGI:98254	SCP2	Human only
181500	Schizophrenia; SCZD				SCZD1	Human only
181510	Schizophrenia 1; SCZD1	Schizophrenia Susceptibility Locus, Chromosome 5-Related			SCZD1	Human only
181500	Schizophrenia; SCZD				SCZD10	Human only
605419	Schizophrenia 10; SCZD10	Catatonia, Periodic|Schizophrenia Susceptibility Locus, Chromosome 15q15-Related			SCZD10	Human only
181500	Schizophrenia; SCZD				SCZD11	Human only
608078	Schizophrenia 11	Schizophrenia Susceptibility Locus, Chromosome 10q-Related|SCZD11			SCZD11	Human only
181500	Schizophrenia; SCZD				SCZD12	Human only
608543	Schizophrenia 12	Schizophrenia Susceptibility Locus, Chromosome 1p-Related|SCZD12			SCZD12	Human only
613025	Schizophrenia 13; SCZD13				SCZD13	Human only
612361	Schizophrenia 14	Schizophrenia Susceptibility Locus, Chromosome 2q32-Related|Sczd14			SCZD14	Human only
181500	Schizophrenia; SCZD				SCZD2	Human only
603342	Schizophrenia 2; SCZD2	Schizophrenia Susceptibility Locus, Chromosome 11q-Related			SCZD2	Human only
181500	Schizophrenia; SCZD				SCZD3	Human only
600511	Schizophrenia 3; SCZD3	Schizophrenia Susceptibility Locus, Chromosome 6-Related			SCZD3	Human only
181500	Schizophrenia; SCZD				SCZD6	Human only
603013	Schizophrenia 6; SCZD6	Schizophrenia Susceptibility Locus, Chromosome 8p-Related			SCZD6	Human only
181500	Schizophrenia; SCZD				SCZD7	Human only
603176	Schizophrenia 7; SCZD7	Schizophrenia Susceptibility Locus, Chromosome 13q-Related			SCZD7	Human only
181500	Schizophrenia; SCZD				SCZD8	Human only
603206	Schizophrenia 8; SCZD8	Schizophrenia Susceptibility Locus, Chromosome 18-Related			SCZD8	Human only
601665	Obesity		Sdc3	MGI:1349163	SDC3	Human only
252011	Mitochondrial Complex II Deficiency	Succinate Coq Reductase Deficiency	Sdha	MGI:1914195	SDHA	Human only
256000	Leigh Syndrome; LS		Sdha	MGI:1914195	SDHA	Human only
613642	Cardiomyopathy, Dilated, 1gg; CMD1GG		Sdha	MGI:1914195	SDHA	Human only
252011	Mitochondrial Complex II Deficiency	Succinate Coq Reductase Deficiency	Sdhaf1	MGI:1915582	SDHAF1	Human only
601650	Paragangliomas 2; PGL2	Glomus Tumors, Familial, 2	Sdhaf2	MGI:1913322	SDHAF2	Human only
115310	Paragangliomas 4; PGL4	Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas|Paraganglioma, Familial Malignant|Paragangliomas, Hereditary Extraadrenal|Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma|Pheochromocytoma, Familial Extraadrenal	Sdhb	MGI:1914930	SDHB	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Sdhb	MGI:1914930	SDHB	Human only
606864	Paraganglioma and Gastric Stromal Sarcoma	Carney-Stratakis Syndrome|Paraganglioma and Gastrointestinal Stromal Tumor; GIST	Sdhb	MGI:1914930	SDHB	Human only
612359	Cowden-Like Syndrome		Sdhb	MGI:1914930	SDHB	Human only
605373	Paragangliomas 3; PGL3	Glomus Tumors, Familial, 3	Sdhc	MGI:1913302	SDHC	Human only
606864	Paraganglioma and Gastric Stromal Sarcoma	Carney-Stratakis Syndrome|Paraganglioma and Gastrointestinal Stromal Tumor; GIST	Sdhc	MGI:1913302	SDHC	Human only
114900	Carcinoid Tumors, Intestinal		Sdhd	MGI:1914175	SDHD	Human only
168000	Paragangliomas 1; PGL1	Carotid Body Tumors; CBT1|Chemodectomas|Glomus Jugulare Tumors|Glomus Tumors, Familial, 1|Paraganglioma, Carotid Body|Paragangliomas, Familial, 1|Paragangliomata; PGL	Sdhd	MGI:1914175	SDHD	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Sdhd	MGI:1914175	SDHD	Human only
606864	Paraganglioma and Gastric Stromal Sarcoma	Carney-Stratakis Syndrome|Paraganglioma and Gastrointestinal Stromal Tumor; GIST	Sdhd	MGI:1914175	SDHD	Human only
612359	Cowden-Like Syndrome		Sdhd	MGI:1914175	SDHD	Human only
185900	Syndactyly, Type I	SD1|SDTY1|Zygodactyly			SDTY1	Human only
607812	Craniolenticulosutural Dysplasia; CLSD	Boyadjiev-Jabs Syndrome	Sec23a	MGI:1349635	SEC23A	Human only
224100	Anemia, Dyserythropoietic Congenital, Type II; CDAN2	CDA II|Dyserythropoietic Anemia, Congenital, Type II|Dyserythropoietic Anemia, Hempas Type|Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; HEMPAS	Sec23b	MGI:1350925	SEC23B	Human only
174050	Polycystic Liver Disease; PCLD		Sec63	MGI:2155302	SEC63	Human only
609698	Thyroid Hormone Metabolism, Abnormal		Secisbp2	MGI:1922670	SECISBP2	Human only
145500	Hypertension, Essential	EHT	Sele	MGI:98278	SELE	Human only
161950	Iga Nephropathy, Susceptibility to, 1; IGAN1	Berger Disease|IGAN|Nephritis, IgA Type	Sele	MGI:98278	SELE	Human only
161950	Iga Nephropathy, Susceptibility to, 1; IGAN1	Berger Disease|IGAN|Nephritis, IgA Type	Sell	MGI:98279	SELL	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Selp	MGI:98280	SELP	Human only
173610	Selectin P; SELP	CD62|GMP140|Granulocyte Membrane Protein; GRMP|Platelet Alpha-Granule Membrane Protein	Selp	MGI:98280	SELP	Human only
214800	CHARGE Syndrome	Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies|Hall-Hittner Syndrome; HHS	Sema3e	MGI:1340034	SEMA3E	Human only
610282	Retinitis Pigmentosa 35; RP35		Sema4a	MGI:107560	SEMA4A	Human only
610283	Cone-Rod Dystrophy 10; CORD10		Sema4a	MGI:107560	SEMA4A	Human only
607961	Semaphorin 7a; SEMA7A	CDW108|Semaphorin K1; SEMAK1|Semaphorin L; SEMAL	Sema7a	MGI:1306826	SEMA7A	Human only
162100	Amyotrophy, Hereditary Neuralgic; HNA	Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus|Brachial Plexus Neuropathy, Hereditary|Neuritis with Brachial Predilection; NAPB	Sept9	MGI:1858222	SEPT9	Human only
606963	Pulmonary Disease, Chronic Obstructive		Serpina1a	MGI:891971	SERPINA1	Human only
613490	Alpha-1-Antitrypsin Deficiency		Serpina1a	MGI:891971	SERPINA1	Human only
605271	Serpin Peptidase Inhibitor, Clade A, Member 10; SERPINA10	Protein Z-Dependent Protease Inhibitor Precursor	Serpina10	MGI:2667725	SERPINA10	Human only
314200	Thyroxine-Binding Globulin of Serum; TBG	Serpin Peptidase Inhibitor, Clade A, Member 7; SERPINA7|T4-Binding Globulin	Serpina7	MGI:3041197	SERPINA7	Human only
613453	Deafness, Autosomal Recessive 91; DFNB91		Serpinb6a	MGI:103123	SERPINB6	Human only
612356	Heparin Cofactor II Deficiency	Hcf II Deficiency|Hcf2 Deficiency|Thrombophilia, Susceptibility to, Due to Heparin Cofactor II Deficiency	Serpind1	MGI:96051	SERPIND1	Human only
613329	Plasminogen Activator Inhibitor-1 Deficiency	Hyperfibrinolysis Due to Pai1 Deficiency	Serpine1	MGI:97608	SERPINE1	Human only
106100	Angioedema, Hereditary, Type I; HAE1	Angioneurotic Edema, Hereditary; HANE	Serping1	MGI:894696	SERPING1	Human only
120790	Complement Component 4, Partial Deficiency of		Serping1	MGI:894696	SERPING1	Human only
610504	Preterm Premature Rupture of the Membranes; PPROM		Serpinh1	MGI:88283	SERPINH1	Human only
269150	Schinzel-Giedion Midface Retraction Syndrome	SGS	Setbp1	MGI:1933199	SETBP1	Human only
602433	Amyotrophic Lateral Sclerosis 4, Juvenile; ALS4	Neuronopathy, Distal Hereditary Motor, with Pyramidal Features	Setx	MGI:2443480	SETX	Human only
606002	Spinocerebellar Ataxia, Autosomal Recessive 1; SCAR1	Ataxia-Ocular Apraxia 2|Ataxia-Oculomotor Apraxia 2; AOA2	Setx	MGI:2443480	SETX	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial			SFTPA1	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial			SFTPA2	Human only
265120	Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1	Interstitial Lung Disease Due to Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1	Sftpb	MGI:109516	SFTPB	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial	Sftpc	MGI:109517	SFTPC	Human only
265120	Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1	Interstitial Lung Disease Due to Surfactant Protein B Deficiency|Interstitial Lung Disease, Nonspecific, Due to Surfactant Protein B Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 1	Sftpc	MGI:109517	SFTPC	Human only
610913	Surfactant Metabolism Dysfunction, Pulmonary, 2; SMDP2	Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency|Interstitial Lung Disease Due to Surfactant Protein C Deficiency|Pulmonary Alveolar Proteinosis, Congenital, 2	Sftpc	MGI:109517	SFTPC	Human only
222100	Diabetes Mellitus, Insulin-Dependent; IDDM	Diabetes Mellitus, Type I	Sh2b3	MGI:893598	SH2B3	Human only
612011	Celiac Disease, Susceptibility to, 13; CELIAC13	Gluten-Sensitive Enteropathy, Susceptibility to, 13	Sh2b3	MGI:893598	SH2B3	Human only
601626	Leukemia, Acute Myeloid; AML		Sh3gl1	MGI:700010	SH3GL1	Human only
613353	Mononeuropathy of the Median Nerve, Mild; MNMN	Carpal Tunnel Syndrome, Susceptibility to	Sh3tc2	MGI:2444417	SH3TC2	Human only
613436	Autism, Susceptibility to, 17; AUTS17		Shank2	MGI:2671987	SHANK2	Human only
606232	Chromosome 22q13.3 Deletion Syndrome	Phelan-Mcdermid Syndrome|Telomeric 22q13 Monosomy Syndrome	Shank3	MGI:1930016	SHANK3	Human only
612271	Skin/Hair/Eye Pigmentation, Variation In, 11; SHEP11	Skin/Hair/Eye Pigmentation 11, Blue/Nonblue Eyes			SHEP11	Human only
611724	Skin/Hair/Eye Pigmentation, Variation In, 8; SHEP8	Skin/Hair/Eye Pigmentation 8, Freckling			SHEP8	Human only
119100	Split-Hand/Foot Malformation with Long Bone Deficiency 1; SHFLD1	Aplasia of Tibia with Ectrodactyly|Cleft Hand and Absent Tibia|Ectrodactyly with Aplasia of Long Bones|Split-Hand/Foot Malformation with Long Bone Deficiency; SHFLD|Tibial Aplasia with Split-Hand/Split-Foot Deformity			SHFL1	Human only
610685	Split-Hand/Foot Malformation with Long Bone Deficiency 2; SHFLD2				SHFLD2	Human only
612576	Split-Hand/Foot Malformation with Long Bone Deficiency 3; SHFLD3				SHFLD3	Human only
183600	Split-Hand/Foot Malformation 1; SHFM1	Ectrodactyly; ECD|Split-Hand Deformity|Split-Hand/Foot Deformity 1; SHFD1; SHSF1	Shfm1	MGI:109238	SHFM1	Human only
220600	Split-Hand/Foot Malformation 1 with Sensorineural Hearing Loss	Deafness, Congenital, and Split Hands and Feet|Shfm1d			SHFM1D	Human only
313350	Split-Hand/Foot Malformation 2; SHFM2	SHSF2|Split-Hand/Foot Deformity 2; SHFD2|Split-Hand/Split-Foot Anomaly, X-Linked			SHFM2	Human only
246560	Split-Hand/Foot Malformation 3; SHFM3	Chromosome 10q24 Duplication Syndrome|Limb Deficiencies, Distal, with Micrognathia|Shsf3			SHFM3	Human only
183600	Split-Hand/Foot Malformation 1; SHFM1	Ectrodactyly; ECD|Split-Hand Deformity|Split-Hand/Foot Deformity 1; SHFD1; SHSF1			SHFM5	Human only
606708	Split-Hand/Foot Malformation 5; SHFM5				SHFM5	Human only
120200	Coloboma, Ocular	Coloboma of Iris, Choroid, and Retina; COI|Coloboma, Uveoretinal	Shh	MGI:98297	SHH	Human only
147250	Solitary Median Maxillary Central Incisor; SMMCI	Fused Incisors|Incisors, Fused|Single Upper Central Incisor	Shh	MGI:98297	SHH	Human only
174500	Polydactyly, Preaxial II; PPD2	Polydactyly of Triphalangeal Thumb	Shh	MGI:98297	SHH	Human only
611638	Microphthalmia, Isolated, with Coloboma 5; MCOPCB5		Shh	MGI:98297	SHH	Human only
607721	Noonan Syndrome-Like Disorder with Loose Anagen Hair; NSLH		Shoc2	MGI:1927197	SHOC2	Human only
127300	Leri-Weill Dyschondrosteosis; LWD				SHOX	Human only
249700	Langer Mesomelic Dysplasia; LMD	Dyschondrosteosis, Homozygous|Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type			SHOX	Human only
604271	Short Stature, Idiopathic, Autosomal	Growth Hormone Deficiency, Isolated, Partial; PARTIAL IGHD|Growth Hormone, Insensitivity to, Partial			SHOX	Human only
300582	Short Stature, Idiopathic, X-Linked; ISS				SHOX	Human only
300434	Stocco Dos Santos X-Linked Mental Retardation Syndrome	Mental Retardation, X-Linked, Stocco Dos Santos Type|SDSX	Shroom4	MGI:2685570	SHROOM4	Human only
222900	Sucrase-Isomaltase Deficiency, Congenital; CSID	Disaccharide Intolerance I|Si Deficiency|Sucrose Intolerance, Congenital|Sucrose-Isomaltose Malabsorption, Congenital	Sis	MGI:1917233	SI	Human only
613551	Autoimmune Disease, Susceptibility to, 6; AIS6		Siae	MGI:104803	SIAE	Human only
605192	Deafness, Autosomal Dominant 23; DFNA23		Six1	MGI:102780	SIX1	Human only
608389	Branchiootic Syndrome 3; BOS3	Bo Syndrome 3	Six1	MGI:102780	SIX1	Human only
610896	Branchiootorenal Syndrome 2; BOR2		Six5	MGI:106220	SIX5	Human only
212550	Microphthalmia, Isolated, with Cataract 2; MCOPCT2	Microphthalmia and Cataract 2|Microphthalmia, Cataract, and Nystagmus	Six6	MGI:1341840	SIX6	Human only
613291	Bile Acid Malabsorption, Primary; PBAM		Slc10a2	MGI:1201406	SLC10A2	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Slc11a1	MGI:1345275	SLC11A1	Human only
610446	Buruli Ulcer, Susceptibility to	Mycobacterium Ulcerans, Susceptibility to	Slc11a1	MGI:1345275	SLC11A1	Human only
206100	Anemia, Hypochromic Microcytic, with Iron Overload		Slc11a2	MGI:1345279	SLC11A2	Human only
245340	Erythrocyte Lactate Transporter Defect	Lactate Transporter Defect, Myopathy Due to	Slc16a1	MGI:106013	SLC16A1	Human only
610021	Hyperinsulinemic Hypoglycemia, Familial, 7; HHF7	Hyperinsulinemic Hypoglycemia, Exercise-Induced	Slc16a1	MGI:106013	SLC16A1	Human only
612018	Cataract, Juvenile, with Microcornea and Glucosuria	Cjmg	Slc16a12	MGI:2147716	SLC16A12	Human only
607483	Basal Ganglia Disease, Biotin-Responsive	BBGD|Biotin-Responsive Basal Ganglia Disease	Slc19a3	MGI:1931307	SLC19A3	Human only
606152	Solute Carrier Family 19 (folate Transporter), Member 3; SLC19A3		Slc19a3	MGI:1931307	SLC19A3	Human only
612656	Episodic Ataxia, Type 6; EA6		Slc1a3	MGI:99917	SLC1A3	Human only
220150	Hypouricemia, Renal, 1; RHUC1	Dalmatian Hypouricemia|Renal Hypouricemia	Slc22a12	MGI:1195269	SLC22A12	Human only
114480	Breast Cancer		Slc22a18	MGI:1336884	SLC22A18	Human only
211980	Lung Cancer		Slc22a18	MGI:1336884	SLC22A18	Human only
268210	Rhabdomyosarcoma 1; RMS1	Rhabdomyosarcoma Chromosomal Region; RMSCR|Rhabdomyosarcoma, Embryonal, 1; RMSE1	Slc22a18	MGI:1336884	SLC22A18	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Slc22a4	MGI:1353479	SLC22A4	Human only
266600	Inflammatory Bowel Disease 1; IBD1		Slc22a4	MGI:1353479	SLC22A4	Human only
612949	Hypomyelination, Global Cerebral	Agc1 Deficiency|Aspartate-Glutamate Carrier 1 Deficiency	Slc25a12	MGI:1926080	SLC25A12	Human only
603471	Citrullinemia, Type II, Adult-Onset; CTLN2	Citrin Deficiency	Slc25a13	MGI:1354721	SLC25A13	Human only
238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	HHH Syndrome; HHHS; HHH|Ornithine Translocase Deficiency	Slc25a15	MGI:1342274	SLC25A15	Human only
212138	Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency	Slc25a20	MGI:1928738	SLC25A20	Human only
609304	Epileptic Encephalopathy, Early Infantile, 3; EIEE3		Slc25a22	MGI:1915517	SLC25A22	Human only
610773	Mitochondrial Phosphate Carrier Deficiency	Mpcd	Slc25a3	MGI:1353498	SLC25A3	Human only
205950	Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive		Slc25a38	MGI:2384782	SLC25A38	Human only
157640	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1; PEOA1	Progressive External Ophthalmoplegia, Autosomal Dominant, 1	Slc25a4	MGI:1353495	SLC25A4	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Slc25a4	MGI:1353495	SLC25A4	Human only
609283	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2; PEOA2	Progressive External Ophthalmoplegia, Autosomal Dominant, 2	Slc25a4	MGI:1353495	SLC25A4	Human only
226900	Epiphyseal Dysplasia, Multiple, 4; EDM4	Multiple Epiphyseal Dysplasia with Bilayered Patellae|Multiple Epiphyseal Dysplasia with Clubfoot|Multiple Epiphyseal Dysplasia, Autosomal Recessive	Slc26a2	MGI:892977	SLC26A2	Human only
256050	Atelosteogenesis, Type II; AOII	Ao2	Slc26a2	MGI:892977	SLC26A2	Human only
600972	Achondrogenesis, Type IB; ACG1B	Achondrogenesis, Fraccaro Type	Slc26a2	MGI:892977	SLC26A2	Human only
608649	Ichthyosis Prematurity Syndrome; IPS	Ichthyosis Congenita IV	Slc27a4	MGI:1347347	SLC27A4	Human only
612391	Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or without Hearing Loss		Slc29a3	MGI:1918529	SLC29A3	Human only
606777	Glut1 Deficiency Syndrome 1; GLUT1DS1		Slc2a1	MGI:95755	SLC2A1	Human only
612126	Glut1 Deficiency Syndrome 2; GLUT1DS2	Dystonia 18; DYT18|Paroxysmal Exercise-Induced Dyskinesia with or without Epilepsy and/or Hemolytic Anemia|Paroxysmal Exertion-Induced Dystonia with or without Epilepsy and/or Hemolytic Anemia|Ped with or without Epilepsy and/or Hemolytic Anemia	Slc2a1	MGI:95755	SLC2A1	Human only
208050	Arterial Tortuosity Syndrome; ATS	Arterial Tortuosity	Slc2a10	MGI:2156687	SLC2A10	Human only
227810	Fanconi-Bickel Syndrome; FBS	Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance|Glycogen Storage Disease XI|Glycogenosis, Fanconi Type|Hepatic Glycogenosis with Amino Aciduria and Glucosuria|Hepatic Glycogenosis with Fanconi Nephropathy|Hepatorenal Glycogenosis with Renal Fanconi Syndrome|Pseudo-Phlorizin Diabetes	Slc2a2	MGI:1095438	SLC2A2	Human only
612076	Hypouricemia, Renal, 2; RHUC2		Slc2a9	MGI:2152844	SLC2A9	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Slc30a8	MGI:2442682	SLC30A8	Human only
612539	Spastic Paraplegia 42, Autosomal Dominant; SPG42		Slc33a1	MGI:1332247	SLC33A1	Human only
612286	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1		Slc34a1	MGI:1345284	SLC34A1	Human only
613388	Fanconi Renotubular Syndrome 2; FRTS2		Slc34a1	MGI:1345284	SLC34A1	Human only
265100	Pulmonary Alveolar Microlithiasis		Slc34a2	MGI:1342284	SLC34A2	Human only
610441	Testicular Microlithiasis		Slc34a2	MGI:1342284	SLC34A2	Human only
603585	Congenital Disorder of Glycosylation, Type Iif; CDG2F	Cdg Iif; CDGIIF	Slc35a1	MGI:1345622	SLC35A1	Human only
138500	Hyperglycinuria	Glycinuria with or without Oxalate Nephrolithiasis|Glycinuria with or without Oxalate Urolithiasis|Iminoglycinuria Type II	Slc36a2	MGI:1891430	SLC36A2	Human only
242600	Iminoglycinuria		Slc36a2	MGI:1891430	SLC36A2	Human only
232240	Glycogen Storage Disease IC		Slc37a4	MGI:1316650	SLC37A4	Human only
201100	Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ		Slc39a4	MGI:1919277	SLC39A4	Human only
606407	Hypotonia-Cystinuria Syndrome	Cystinuria with Mitochondrial Disease	Slc3a1	MGI:1195264	SLC3A1	Human only
229050	Folate Malabsorption, Hereditary		Slc46a1	MGI:1098733	SLC46A1	Human only
109270	Solute Carrier Family 4 (anion Exchanger), Member 1; SLC4A1	Band 3 of Red Cell Membrane; BND3|Erythrocyte Membrane Protein Band 3; EMPB3|Erythroid Protein Band 3; EPB3	Slc4a1	MGI:109393	SLC4A1	Human only
179800	Renal Tubular Acidosis, Distal, Autosomal Dominant	Renal Tubular Acidosis I|RTA, Classic Type|RTA, Distal Type, Autosomal Dominant|RTA, Gradient Type	Slc4a1	MGI:109393	SLC4A1	Human only
611162	Malaria, Susceptibility to		Slc4a1	MGI:109393	SLC4A1	Human only
611590	Renal Tubular Acidosis, Distal, with Hemolytic Anemia		Slc4a1	MGI:109393	SLC4A1	Human only
217400	Corneal Dystrophy and Perceptive Deafness	CDPD|Cdpd1|Corneal Dystrophy and Sensorineural Deafness|Harboyan Syndrome	Slc4a11	MGI:2138987	SLC4A11	Human only
217700	Corneal Endothelial Dystrophy 2, Autosomal Recessive; CHED2	Congenital Hereditary Endothelial Dystrophy of Cornea|Corneal Dystrophy, Congenital Hereditary Endothelial|Maumenee Corneal Dystrophy	Slc4a11	MGI:2138987	SLC4A11	Human only
613268	Corneal Dystrophy, Fuchs Endothelial, 4; FECD4	Corneal Dystrophy, Fuchs Endothelial, Late-Onset	Slc4a11	MGI:2138987	SLC4A11	Human only
604278	Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation	Rta, Proximal, Autosomal Recessive	Slc4a4	MGI:1927555	SLC4A4	Human only
606824	Glucose/Galactose Malabsorption; GGM	Monosaccharide Malabsorption; GM	Slc5a1	MGI:107678	SLC5A1	Human only
233100	Renal Glucosuria; GLYS1	Glycosuria, Renal	Slc5a2	MGI:2181411	SLC5A2	Human only
274400	Thyroid Dyshormonogenesis 1; TDH1	Hypothyroidism, Congenital, Due to Dyshormonogenesis, 1|Iodine Accumulation, Transport, or Trapping Defect|Thyroid Hormonogenesis, Genetic Defect In, 1	Slc5a5	MGI:2149330	SLC5A5	Human only
138500	Hyperglycinuria	Glycinuria with or without Oxalate Nephrolithiasis|Glycinuria with or without Oxalate Urolithiasis|Iminoglycinuria Type II	Slc6a19	MGI:1921588	SLC6A19	Human only
242600	Iminoglycinuria		Slc6a19	MGI:1921588	SLC6A19	Human only
604715	Orthostatic Intolerance	Irritable Heart|Mitral Valve Prolapse Syndrome|Neurocirculatory Asthenia|Soldiers Heart	Slc6a2	MGI:1270850	SLC6A2	Human only
138500	Hyperglycinuria	Glycinuria with or without Oxalate Nephrolithiasis|Glycinuria with or without Oxalate Urolithiasis|Iminoglycinuria Type II	Slc6a20a	MGI:2143217	SLC6A20	Human only
242600	Iminoglycinuria		Slc6a20a	MGI:2143217	SLC6A20	Human only
125480	Major Affective Disorder 1; MAFD1	Bipolar Affective Disorder; BPAD|Manic-Depressive Psychosis, Autosomal|Manic-Depressive Psychosis; MD1	Slc6a3	MGI:94862	SLC6A3	Human only
188890	Tobacco Addiction, Susceptibility to	Cigarette Habituation, Susceptibility to|Nicotine Addiction, Susceptibility to|Nicotine Dependence, Susceptibility to|Smoking Habit, Susceptibility to	Slc6a3	MGI:94862	SLC6A3	Human only
613135	Parkinsonism-Dystonia, Infantile		Slc6a3	MGI:94862	SLC6A3	Human only
164230	Obsessive-Compulsive Disorder; OCD		Slc6a4	MGI:96285	SLC6A4	Human only
607834	Anxiety		Slc6a4	MGI:96285	SLC6A4	Human only
222700	Lysinuric Protein Intolerance; LPI	Dibasic Amino Aciduria II	Slc7a7	MGI:1337120	SLC7A7	Human only
612287	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2; NPHLOP2		Slc9a3r1	MGI:1349482	SLC9A3R1	Human only
300243	Mental Retardation, X-Linked, Syndromic, Christianson Type; MRXSCH	Angelman-Like Syndrome, X-Linked|Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome	Slc9a6	MGI:2443511	SLC9A6	Human only
613410	Autism, Susceptibility to, 16; AUTS16	Autism with or without Seizures	Slc9a9	MGI:2679732	SLC9A9	Human only
152700	Systemic Lupus Erythematosus; SLE				SLEB1	Human only
601744	Systemic Lupus Erythematosus, Susceptibility to, 1; SLEB1				SLEB1	Human only
612254	Systemic Lupus Erythematosus, Susceptibility to, 12; SLEB12				SLEB12	Human only
612378	Systemic Lupus Erythematosus, Susceptibility to, 13; SLEB13				SLEB13	Human only
613145	Systemic Lupus Erythematosus, Susceptibility to, 14; SLEB14				SLEB14	Human only
300809	Systemic Lupus Erythematosus, Susceptibility to, 15; SLEB15				SLEB15	Human only
605218	Systemic Lupus Erythematosus, Susceptibility to, 2; SLEB2				SLEB2	Human only
152700	Systemic Lupus Erythematosus; SLE				SLEB3	Human only
605480	Systemic Lupus Erythematosus, Susceptibility to, 3; SLEB3				SLEB3	Human only
152700	Systemic Lupus Erythematosus; SLE				SLEB4	Human only
608437	Systemic Lupus Erythematosus, Susceptibility to, 4; SLEB4				SLEB4	Human only
152700	Systemic Lupus Erythematosus; SLE				SLEB5	Human only
609903	Systemic Lupus Erythematosus, Susceptibility to, 5; SLEB5				SLEB5	Human only
610065	Systemic Lupus Erythematosus, Susceptibility to, 7; SLEB7				SLEB7	Human only
610066	Systemic Lupus Erythematosus, Susceptibility to, 8; SLEB8				SLEB8	Human only
152700	Systemic Lupus Erythematosus; SLE				SLEH1	Human only
607279	Systemic Lupus Erythematosus with Hemolytic Anemia, Susceptibility to, 1; SLEH1	Systemic Lupus Erythematosus, Hemolytic Anemia-Related			SLEH1	Human only
607965	Systemic Lupus Erythematosus with Nephritis, Susceptibility to, 1;	SLEN1			SLEN1	Human only
607966	Systemic Lupus Erythematosus with Nephritis, Susceptibility to, 2;	SLEN2			SLEN2	Human only
607967	Systemic Lupus Erythematosus with Nephritis, Susceptibility to, 3;	SLEN3			SLEN3	Human only
606711	Specific Language Impairment 1; SLI1	Specific Language Impairment Quantitative Trait Locus on Chromosome 16			SLI1	Human only
606712	Specific Language Impairment 2; SLI2	Specific Language Impairment Quantitative Trait Locus on Chromosome 19			SLI2	Human only
607134	Specific Language Impairment 3; SLI3	Specific Language Impairment Quantitative Trait Locus on Chromosome 13			SLI3	Human only
612514	Specific Language Impairment 4; SLI4				SLI4	Human only
613229	Trichotillomania; TTM		Slitrk1	MGI:2679446	SLITRK1	Human only
606995	Senior-Loken Syndrome 3; SLSN3				SLSN3	Human only
248300	Mal De Meleda	Keratosis Palmoplantaris Transgradiens of Siemens|MDM|Meleda Disease	Slurp1	MGI:1930923	SLURP1	Human only
181460	Schistosoma Mansoni Infection, Susceptibility/Resistance to	Schistosoma Mansoni, Intensity of Infection By; SM1			SM1	Human only
604201	Hepatic Fibrosis, Severe, Susceptibility to, Due to Schistosoma Mansoni Infection				SM2	Human only
175050	Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome;	JP/HHT Syndrome|JPHT|JPS/HHT|Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia|Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation|Telangiectasia, Hereditary Hemorrhagic, with Juvenile Polyposis Coli	Smad4	MGI:894293	SMAD4	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Smad7	MGI:1100518	SMAD7	Human only
612229	Colorectal Cancer, Susceptibility to, 3; CRCS3	Colorectal Cancer, Susceptibility to, on Chromosome 18	Smad7	MGI:1100518	SMAD7	Human only
600175	Spinal Muscular Atrophy, Distal, Congenital Nonprogressive	Spinal Muscular Atrophy, Congenital Benign, with Contractures			SMAL	Human only
158600	Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED	Kugelberg-Welander Syndrome, Autosomal Dominant|Sma-Led|Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant|Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant			SMALED	Human only
607088	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3; DSMA3	Dhmn3|Dhmn4|Hmn III|Hmn IV|Neuronopathy, Distal Hereditary Motor, Type III; HMN3|Neuronopathy, Distal Hereditary Motor, Type IV; HMN4|Neuropathy, Distal Hereditary Motor, Type IV			SMAR	Human only
613325	Rhabdoid Tumor Predisposition Syndrome 2; RTPS2		Smarca4	MGI:88192	SMARCA4	Human only
242900	Immunoosseous Dysplasia, Schimke Type	Schimke Immunoosseous Dysplasia; SIOD	Smarcal1	MGI:1859183	SMARCAL1	Human only
300590	Cornelia De Lange Syndrome 2; CDLS2	Cdls, X-Linked|Cornelia De Lange Syndrome, X-Linked	Smc1a	MGI:1344345	SMC1A	Human only
610759	Cornelia De Lange Syndrome 3; CDLS3		Smc3	MGI:1339795	SMC3	Human only
253550	Spinal Muscular Atrophy, Type II; SMA2	Muscular Atrophy, Spinal, Infantile Chronic Form|Muscular Atrophy, Spinal, Intermediate Type|SMA II	Smn1	MGI:109257	SMN1	Human only
271150	Spinal Muscular Atrophy, Type IV; SMA4	Spinal Muscular Atrophy, Adult Form|Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive	Smn1	MGI:109257	SMN1	Human only
253400	Spinal Muscular Atrophy, Type III; SMA3	Kugelberg-Welander Syndrome; KWS|Muscular Atrophy, Juvenile|SMA III|Spinal Muscular Atrophy, Mild Childhood and Adolescent Form			SMN2	Human only
309583	Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type; MRXSSR	Snyder-Robinson Mental Retardation Syndrome; SRS	Sms	MGI:109490	SMS	Human only
172800	Piebald Trait; PBT	Piebaldism	Snai2	MGI:1096393	SNAI2	Human only
609528	Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome	Cednik Syndrome	Snap29	MGI:1914724	SNAP29	Human only
608984	Ataxia, Sensory, Autosomal Dominant	ADSA|SNAX1			SNAX1	Human only
127750	Dementia, Lewy Body; DLB	Lewy Body Dementia	Snca	MGI:1277151	SNCA	Human only
605543	Parkinson Disease 4, Autosomal Dominant; PARK4	Parkinson Disease 4, Autosomal Dominant Lewy Body	Snca	MGI:1277151	SNCA	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Sncaip	MGI:1915097	SNCAIP	Human only
127750	Dementia, Lewy Body; DLB	Lewy Body Dementia	Sncb	MGI:1889011	SNCB	Human only
610359	Retinitis Pigmentosa 33; RP33		Snrnp200	MGI:2444401	SNRNP200	Human only
612955	Long Qt Syndrome 12; LQT12		Snta1	MGI:101772	SNTA1	Human only
601349	Microphthalmia, Syndromic 8; MCOPS8	Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism; MMEP	Snx3	MGI:1860188	SNX3	Human only
613671	Mental Retardation, Anterior Maxillary Protrusion, and Strabismus;	Mrams	Sobp	MGI:1924427	SOBP	Human only
605805	Dermatitis, Atopic, 4; ATOD4		Socs3	MGI:1201791	SOCS3	Human only
105400	Amyotrophic Lateral Sclerosis 1; ALS1	Amyotrophic Lateral Sclerosis, Familial; FALS	Sod1	MGI:98351	SOD1	Human only
612634	Microvascular Complications of Diabetes, Susceptibility to, 6; MVCD6	Nephropathy, Diabetic, Susceptibility to	Sod2	MGI:98352	SOD2	Human only
613589	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6; LDLCQ6		Sort1	MGI:1338015	SORT1	Human only
135300	Fibromatosis, Gingival, 1; GINGF1	Fibromatosis, Gingival, Hereditary; HGF|Ggf1|Gingf	Sos1	MGI:98354	SOS1	Human only
610733	Noonan Syndrome 4; NS4		Sos1	MGI:98354	SOS1	Human only
239100	Hyperostosis Corticalis Generalisata	Endosteal Hyperostosis, Autosomal Recessive|Hyperphosphatasemia Tarda|Van Buchem Disease; VBCH	Sost	MGI:1921749	SOST	Human only
269500	Sclerosteosis 1; SOST1	Cortical Hyperostosis with Syndactyly|Sost	Sost	MGI:1921749	SOST	Human only
277580	Waardenburg Syndrome, Type 4A; WS4A	Shah-Waardenburg Syndrome|Waardenburg Syndrome with Hirschsprung Disease, Type 4a|Waardenburg Syndrome, Type IVA|Waardenburg-Shah Syndrome|Ws4	Sox10	MGI:98358	SOX10	Human only
601706	Yemenite Deaf-Blind Hypopigmentation Syndrome		Sox10	MGI:98358	SOX10	Human only
609136	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; PCWH	Waardenburg-Shah Syndrome, Neurologic Variant	Sox10	MGI:98358	SOX10	Human only
611584	Waardenburg Syndrome, Type 2E; WS2E	Waardenburg Syndrome, Type 2e, with or without Neurologic Involvement|Waardenburg Syndrome, Type IIE|Ws2e, with or without Neurologic Involvement	Sox10	MGI:98358	SOX10	Human only
613266	Waardenburg Syndrome, Type 4c; WS4C	Waardenburg Syndrome with Hirschsprung Disease, Type 4C|Waardenburg Syndrome, Type Ivc	Sox10	MGI:98358	SOX10	Human only
613674	Vesicoureteral Reflux 3; VUR3		Sox17	MGI:107543	SOX17	Human only
206900	Microphthalmia, Syndromic 3; MCOPS3	Anophthalmia, Clinical, with Associated Anomalies|Anophthalmia-Esophageal-Genital Syndrome|Microphthalmia and Esophageal Atresia Syndrome	Sox2	MGI:98364	SOX2	Human only
300123	Mental Retardation, X-Linked, with Panhypopituitarism Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency,		Sox3	MGI:98365	SOX3	Human only
312000	Panhypopituitarism, X-Linked; PHPX	Pituitary Dwarfism IV, Formerly	Sox3	MGI:98365	SOX3	Human only
235550	Hepatic Venoocclusive Disease with Immunodeficiency; VODI		Sp110	MGI:1923364	SP110	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Sp110	MGI:1923364	SP110	Human only
102530	Spermatogenic Failure 6; SPGF6	Acrosome Malformation of Spermatozoa|Globozoospermia|Round-Headed Spermatozoa|Spermatozoa, Round-Headed	Spata16	MGI:1918112	SPATA16	Human only
268000	Retinitis Pigmentosa; RP		Spata7	MGI:2144877	SPATA7	Human only
604232	Leber Congenital Amaurosis 3; LCA3		Spata7	MGI:2144877	SPATA7	Human only
611390	Ataxia, Spastic, 3, Autosomal Recessive; SPAX3	Autosomal Recessive Spastic Ataxia with Leukoencephalopathy; ARSAL			SPAX3	Human only
610234	Synpolydactyly 3	Spd3			SPD3	Human only
183840	Spondyloarthropathy, Susceptibility to, 2; SPDA2				SPDA2	Human only
613238	Spondyloarthropathy, Susceptibility to, 3; SPDA3				SPDA3	Human only
604360	Spastic Paraplegia 11, Autosomal Recessive; SPG11	HSP-TCC|Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum|Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum	Spg11	MGI:2444989	SPG11	Human only
604805	Spastic Paraplegia 12, Autosomal Dominant; SPG12				SPG12	Human only
605229	Spastic Paraplegia 14, Autosomal Recessive; SPG14				SPG14	Human only
300266	Spastic Paraplegia 16, X-Linked; SPG16				SPG16	Human only
611225	Spastic Paraplegia 18, Autosomal Recessive; SPG18	Intellectual Disability, Motor Dysfunction, and Joint Contractures; IDMDC			SPG18	Human only
607152	Spastic Paraplegia 19, Autosomal Dominant; SPG19				SPG19	Human only
275900	Spastic Paraplegia 20, Autosomal Recessive; SPG20	Spastic Paraparesis, Childhood-Onset, with Distal Muscle Wasting|Spastic Paraplegia, Autosomal Recessive, Troyer Type|Troyer Syndrome	Spg20	MGI:2139806	SPG20	Human only
248900	Mast Syndrome	Spastic Paraplegia 21, Autosomal Recessive; SPG21	Spg21	MGI:106403	SPG21	Human only
270750	Spastic Paraplegia 23; SPG23	Lison Syndrome|Spastic Paraparesis, Vitiligo, Premature Graying, Characteristic Facies|Spastic Paraplegia with Pigmentary Abnormalities			SPG23	Human only
607584	Spastic Paraplegia 24, Autosomal Recessive; SPG24				SPG24	Human only
608220	Spastic Paraplegia 25, Autosomal Recessive; SPG25	Disc Herniation with Spastic Paraplegia, Autosomal Recessive			SPG25	Human only
609195	Spastic Paraplegia 26, Autosomal Recessive; SPG26				SPG26	Human only
609041	Spastic Paraplegia 27, Autosomal Recessive; SPG27				SPG27	Human only
609340	Spastic Paraplegia 28, Autosomal Recessive; SPG28				SPG28	Human only
609727	Spastic Paraplegia 29, Autosomal Dominant; SPG29				SPG29	Human only
610357	Spastic Paraplegia 30, Autosomal Recessive; SPG30				SPG30	Human only
611252	Spastic Paraplegia 32, Autosomal Recessive; SPG32				SPG32	Human only
300750	Spastic Paraplegia 34, X-Linked; SPG34				SPG34	Human only
613096	Spastic Paraplegia 36, Autosomal Dominant; SPG36				SPG36	Human only
611945	Spastic Paraplegia 37, Autosomal Dominant; SPG37				SPG37	Human only
612335	Spastic Paraplegia 38, Autosomal Dominant; SPG38				SPG38	Human only
613364	Spastic Paraplegia 41, Autosomal Dominant; SPG41				SPG41	Human only
613162	Spastic Paraplegia 45, Autosomal Recessive; SPG45				SPG45	Human only
600146	Spastic Paraplegia 5B, Autosomal Recessive; SPG5B				SPG5B	Human only
601162	Spastic Paraplegia 9, Autosomal Dominant; SPG9	Cataracts with Motor Neuronopathy, Short Stature, and Skeletal Abnormalities|Spastic Paraparesis with Amyopathy, Cataracts, and Gastroesophageal Reflux			SPG9	Human only
167800	Pancreatitis, Hereditary; PCTT	HP|HPC	Spink3	MGI:106202	SPINK1	Human only
608189	Tropical Calcific Pancreatitis	TCP	Spink3	MGI:106202	SPINK1	Human only
147050	IgE Responsiveness, Atopic; IGER	IGE, Level Of; IGEL|Immunoglobulin E, Basic Level of, in Serum	Spink5	MGI:1919682	SPINK5	Human only
270420	Diarrhea 3, Secretory Sodium, Congenital; DIAR3		Spint2	MGI:1338031	SPINT2	Human only
609541	Spastic Paraplegia, Optic Atrophy, and Neuropathy; SPOAN				SPOAN	Human only
181430	Scapuloperoneal Myopathy, Myh7-Related; SPMM	Scapuloperoneal Muscular Dystrophy; SPMD|Scapuloperoneal Syndrome, Myopathic Type			SPPM	Human only
130600	Elliptocytosis 2; EL2	Elliptocytosis, Rhesus-Unlinked Type	Spna1	MGI:98385	SPTA1	Human only
266140	Pyropoikilocytosis, Hereditary; HPP		Spna1	MGI:98385	SPTA1	Human only
613477	Epileptic Encephalopathy, Early Infantile, 5; EIEE5		Spna2	MGI:98386	SPTAN1	Human only
162400	Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A	Hsan IA|Hsn IA|Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a|Neuropathy, Hereditary Sensory, Type IA; HSN1A	Sptlc1	MGI:1099431	SPTLC1	Human only
613640	Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C	Hsan IC|Hsn IC|Neuropathy, Hereditary Sensory, Type Ic; HSN1C	Sptlc2	MGI:108074	SPTLC2	Human only
264600	Pseudovaginal Perineoscrotal Hypospadias; PPSH	Familial Incomplete Male Pseudohermaphroditism, Type 2|Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency	Srd5a2	MGI:2150380	SRD5A2	Human only
607306	Steroid 5-Alpha-Reductase 2; SRD5A2		Srd5a2	MGI:2150380	SRD5A2	Human only
612379	Congenital Disorder of Glycosylation, Type Iq; CDG1Q	Cdg Iq; CDGIQ|Coloboma, Ocular, with Ichthyosis, Brain Malformations, and Endocrine Abnormalities	Srd5a3	MGI:1930252	SRD5A3	Human only
300388	Polymicrogyria, Bilateral Perisylvian; BPP	Perisylvian Syndrome, Congenital Bilateral; CBPS|PMGX	Srpx2	MGI:1916042	SRPX2	Human only
300643	Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked;	Resdx	Srpx2	MGI:1916042	SRPX2	Human only
400044	46,xy Sex Reversal 1; SRXY1	46,xy Sex Reversal, Sry-Related	Sry	MGI:98660	SRY	Human only
400045	46,xx Sex Reversal 1; SRXX1	46,xx Gonadal Dysgenesis, Complete, Sry-Positive|46,xx Sex Reversal, Sry-Positive	Sry	MGI:98660	SRY	Human only
612388	Sarcoidosis, Susceptibility to, 3; SS3				SS3	Human only
608445	Speech-Sound Disorder	SSD			SSD	Human only
102200	Pituitary Adenoma, Growth Hormone-Secreting	Isolated Familial Somatotropinoma; IFS|Somatotrophinoma, Familial|Somatotropinoma, Familial Isolated; FIS	Sstr5	MGI:894282	SSTR5	Human only
610765	Ichthyosis with Hypotrichosis, Autosomal Recessive	Arih	St14	MGI:1338881	ST14	Human only
191181	Suppressor of Tumorigenicity 3; ST3	Cervical Carcinoma, Tumor-Suppressor Gene Involved In; CCTS|Tumor-Suppressor Gene, Hela Cell Type; TSHL			ST3	Human only
609056	Amish Infantile Epilepsy Syndrome	Epilepsy Syndrome, Infantile-Onset Symptomatic|GM3 Synthase Deficiency	St3gal5	MGI:1339963	ST3GAL5	Human only
167000	Ovarian Cancer				ST8	Human only
209950	Atypical Mycobacteriosis, Familial	Atypical Mycobacterial Infection, Disseminated|Atypical Mycobacterial Infection, Familial Disseminated	Stat1	MGI:103063	STAT1	Human only
147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	Hies, Autosomal Dominant|Hyper-Ige Syndrome, Autosomal Dominant|Job Syndrome	Stat3	MGI:103038	STAT3	Human only
152700	Systemic Lupus Erythematosus; SLE		Stat4	MGI:103062	STAT4	Human only
180300	Rheumatoid Arthritis; RA	Rheumatoid Arthritis, Susceptibility to	Stat4	MGI:103062	STAT4	Human only
612253	Systemic Lupus Erythematosus, Susceptibility to, 11; SLEB11		Stat4	MGI:103062	STAT4	Human only
245590	Growth Hormone Insensitivity with Immunodeficiency	Growth Hormone Insensitivity Due to Postreceptor Defect|Laron Syndrome Due to Postreceptor Defect	Stat5b	MGI:103035	STAT5B	Human only
185100	Strabismus, Susceptibility to				STBMS1	Human only
610926	Tooth Agenesis, Selective, 5; STHAG5	He-Zhao Deficiency|Hypodontia/Oligodontia 5			STHAG5	Human only
612703	Microcephaly 7, Primary, Autosomal Recessive; MCPH7		Stil	MGI:107477	STIL	Human only
612783	Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2	Stim1 Deficiency	Stim1	MGI:107476	STIM1	Human only
273300	Testicular Germ Cell Tumor; TGCT		Stk11	MGI:1341870	STK11	Human only
189800	Preeclampsia/Eclampsia 1; PEE1	PEE|PREG1	Stox1	MGI:2684909	STOX1	Human only
609404	Preeclampsia/Eclampsia 4; PEE4		Stox1	MGI:2684909	STOX1	Human only
613440	Stature Quantitative Trait Locus 21; STQTL21				STQTL21	Human only
613547	Stature Quantitative Trait Locus 22; STQTL22				STQTL22	Human only
613548	Stature Quantitative Trait Locus 23; STQTL23				STQTL23	Human only
613549	Stature Quantitative Trait Locus 24; STQTL24				STQTL24	Human only
601186	Microphthalmia, Syndromic 9; MCOPS9	Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the Lung, Heart, and Diaphragm|Anophthalmia/Microphthalmia and Pulmonary Hypoplasia|Matthew-Wood Syndrome|Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect; PMD|Spear Syndrome	Stra6	MGI:107742	STRA6	Human only
611087	Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy; PMSE	Pmse Syndrome	Strada	MGI:1919399	STRADA	Human only
308100	Ichthyosis, X-Linked; XLI	Placental Steroid Sulfatase Deficiency|Steroid Sulfatase Deficiency|Sts Deficiency	Sts	MGI:98438	STS	Human only
184450	Stuttering, Familial Persistent 1; STUT1	Stammering			STUT1	Human only
609261	Stuttering, Familial Persistent 2; STUT2				STUT2	Human only
603552	Hemophagocytic Lymphohistiocytosis, Familial, 4; FHL4	Hlh4|Hplh4	Stx11	MGI:1921982	STX11	Human only
603233	Pseudohypoparathyroidism, Type IB; PHP1B	PHP IB	Stx16	MGI:1923396	STX16	Human only
612164	Epileptic Encephalopathy, Early Infantile, 4; EIEE4		Stxbp1	MGI:107363	STXBP1	Human only
251880	Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3		Sucla2	MGI:1306775	SUCLA2	Human only
609560	Mitochondrial DNA Depletion Syndrome 2 (myopathic Type); MTDPS2	Mitochondrial DNA Depletion Myopathy, Tk2-Related	Sucla2	MGI:1306775	SUCLA2	Human only
612073	Mitochondrial DNA Depletion Syndrome 5 (encephalomyopathic with Methylmalonic Aciduria); MTDPS5	Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related	Sucla2	MGI:1306775	SUCLA2	Human only
245400	Mitochondrial DNA Depletion Syndrome 9 (encephalomyopathic Type with Methylmalonic Aciduria); MTDPS9	Lactic Acidosis, Fatal Infantile, Formerly	Suclg1	MGI:1927234	SUCLG1	Human only
613705	Orofacial Cleft 10; OFC10	Cleft Lip with or without Cleft Palate, Nonsyndromic, 10	Sumo1	MGI:1197010	SUMO1	Human only
600320	Diabetes Mellitus, Insulin-Dependent, 5; IDDM5	Insulin-Dependent Diabetes Mellitus 5			SUMO4	Human only
272300	Sulfocysteinuria	Sulfite Oxidase Deficiency	Suox	MGI:2446117	SUOX	Human only
613498	Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus; SXGQTL1	Testosterone Circulating Level Quantitative Trait Locus, Due to Sex Hormone-Binding Globulin			SXGQTL1	Human only
300491	Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders		Syn1	MGI:98460	SYN1	Human only
181500	Schizophrenia; SCZD		Syn2	MGI:103020	SYN2	Human only
610743	Spinocerebellar Ataxia, Autosomal Recessive 8; SCAR8	Ataxia, Recessive, of Beauce	Syne1	MGI:1927152	SYNE1	Human only
612999	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant; EDMD5		Syne2	MGI:2449316	SYNE2	Human only
612621	Mental Retardation, Autosomal Dominant 5; MRD5		Syngap1	MGI:3039785	SYNGAP1	Human only
612759	Synesthesia	Synsth			SYNSTH	Human only
300802	Mental Retardation, X-Linked 96; MRX96		Syp	MGI:98467	SYP	Human only
182940	Neural Tube Defects		T	MGI:98472	T	Human only
603175	Schizophrenia 5; SCZD5	Schizophrenia Susceptibility Locus, Chromosome 6q-Related	Taar6	MGI:2685074	TAAR6	Human only
612863	Chromosome 6q24-Q25 Deletion Syndrome		Tab2	MGI:1915902	TAB2	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Tac2	MGI:98476	TAC3	Human only
109800	Bladder Cancer		Tacc3	MGI:1341163	TACC3	Human only
146110	Hypogonadotropic Hypogonadism	Hypogonadism, Isolated Hypogonadotropic|Idiopathic Hypogonadotropic Hypogonadism; IHH	Tacr3	MGI:892968	TACR3	Human only
204870	Corneal Dystrophy, Gelatinous Drop-Like; GDLD	Amyloid Corneal Dystrophy, Japanese Type|Amyloidosis, Corneal|CDGDL|Corneal Dystrophy, Lattice Type III|Lattice Corneal Dystrophy, Type III	Tacstd2	MGI:1861606	TACSTD2	Human only
314250	Dystonia 3, Torsion, X-Linked; DYT3	Dystonia-Parkinsonism, X-Linked; XDP|Torsion Dystonia-Parkinsonism, Filipino Type	Taf1	MGI:1336878	TAF1	Human only
612237	Chondrosarcoma, Extraskeletal Myxoid	Emc	Taf15	MGI:1917689	TAF15	Human only
612521	Diabetes Mellitus, Insulin-Dependent, 21; IDDM21		Tagap	MGI:3615484	TAGAP	Human only
606003	Transaldolase Deficiency		Taldo1	MGI:1274789	TALDO1	Human only
159595	Myeloproliferative Syndrome, Transient	Leukemia, Transient|MST|Transient Abnormal Myelopoiesis; TAM			TAM	Human only
604571	Bare Lymphocyte Syndrome, Type I	BLS, Type I|HLA Class I Deficiency	Tap1	MGI:98483	TAP1	Human only
604571	Bare Lymphocyte Syndrome, Type I	BLS, Type I|HLA Class I Deficiency	Tap2	MGI:98484	TAP2	Human only
604571	Bare Lymphocyte Syndrome, Type I	BLS, Type I|HLA Class I Deficiency	Tapbp	MGI:1201689	TAPBP	Human only
106700	Total Anomalous Pulmonary Venous Return 1; TAPVR1	Anomalous Pulmonary Venous Return; APVR|Scimitar Anomaly|Scimitar Syndrome			TAPVR1	Human only
274000	Chromosome 1q21.1 Deletion Syndrome, 200-Kb	Thrombocytopenia-Absent Radius Syndrome			TAR	Human only
612069	Amyotrophic Lateral Sclerosis 10, with or without Frontotemporal Dementia;		Tardbp	MGI:2387629	TARDBP	Human only
103780	Alcohol Dependence	Alcoholism	Tas2r118	MGI:2681247	TAS2R16	Human only
604867	Taste Receptor, Type 2, Member 16; TAS2R16		Tas2r118	MGI:2681247	TAS2R16	Human only
171200	Thiourea Tasting		Tas2r138	MGI:2681306	TAS2R38	Human only
276600	Tyrosinemia, Type II	Keratosis Palmoplantaris with Corneal Dystrophy|Oregon Type Tyrosinemia|Richner-Hanhart Syndrome|Tat Deficiency|Tyrosine Aminotransferase Deficiency|Tyrosine Transaminase Deficiency|Tyrosinosis, Oculocutaneous Type	Tat	MGI:98487	TAT	Human only
300069	Cardiomyopathy, Dilated, 3A; CMD3A	Cardiomyopathy, Dilated, X-Linked Fatal Infantile; CDFI	Taz	MGI:109626	TAZ	Human only
300183	Left Ventricular Noncompaction, X-Linked; LVNCX	Left Ventricular Noncompaction, Isolated, X-Linked; INVM	Taz	MGI:109626	TAZ	Human only
302060	Barth Syndrome; BTHS	3-methylglutaconic Aciduria, Type II; MGCA2|Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria|Mga, Type II; MGA2	Taz	MGI:109626	TAZ	Human only
605021	Myoclonic Epilepsy, Familial Infantile; FIME	EIM	Tbc1d24	MGI:2443456	TBC1D24	Human only
241410	Hypoparathyroidism-Retardation-Dysmorphism Syndrome; HRD	Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures|Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay|Sanjad-Sakati Syndrome	Tbce	MGI:1917680	TBCE	Human only
244460	Kenny-Caffey Syndrome, Type 1; KCS1	Kcs|Kenny-Caffey Syndrome, Autosomal Recessive	Tbce	MGI:1917680	TBCE	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Tbp	MGI:101838	TBP	Human only
607136	Spinocerebellar Ataxia 17; SCA17	Huntington Disease-Like 4; HDL4	Tbp	MGI:101838	TBP	Human only
217095	Conotruncal Heart Malformations; CTHM		Tbx1	MGI:98493	TBX1	Human only
260660	Cousin Syndrome	Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature|Pelviscapular Dysplasia	Tbx15	MGI:1277234	TBX15	Human only
611363	Atrial Septal Defect 4; ASD4		Tbx20	MGI:1888496	TBX20	Human only
208550	Asthma, Nasal Polyps, and Aspirin Intolerance		Tbx21	MGI:1888984	TBX21	Human only
147891	Small Patella Syndrome; SPS	Coxopodopatellar Syndrome|Ischiopatellar Dysplasia|Scott-Taor Syndrome	Tbx4	MGI:102556	TBX4	Human only
610265	Deafness, Autosomal Recessive 67; DFNB67		Tbx6	MGI:102539	TBX6	Human only
231095	Ghosal Hematodiaphyseal Dysplasia; GHDD	Ghosal Syndrome	Tbxas1	MGI:98497	TBXAS1	Human only
607487	Cardiomyopathy, Dilated, 1N; CMD1N		Tcap	MGI:1330233	TCAP	Human only
610954	Pitt-Hopkins Syndrome; PTHS	Encephalopathy, Severe Epileptic, with Autonomic Dysfunction|Mental Retardation, Syndromal, with Intermittent Hyperventilation	Tcf4	MGI:98506	TCF4	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Tcf7l2	MGI:1202879	TCF7L2	Human only
275350	Transcobalamin II Deficiency	TC II Deficiency|Tcn2 Deficiency	Tcn2	MGI:98534	TCN2	Human only
603386	Thyroid Carcinoma, Nonmedullary, with or without Cell Oxyphilia	TCO|TCO1			TCO	Human only
188025	Thrombocytopenia, Paris-Trousseau Type; TCPT				TCPT	Human only
614279	46,xy Sex Reversal 8; SRXY8	Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase; TDD			TDD	Human only
187395	Teratocarcinoma-Derived Growth Factor 1; TDGF1		Tdgf1	MGI:98658	TDGF1	Human only
108985	Sveinsson Chorioretinal Atrophy; SCRA	Atrophia Areata; AA|Helicoidal Peripapillary Chorioretinal Degeneration; HPCD|Peripapillary Chorioretinal Degeneration, Icelandic Type	Tead1	MGI:101876	TEAD1	Human only
227050	Transient Erythroblastopenia of Childhood; TEC	Erythroblastopenia, Transient			TEC	Human only
603629	Deafness, Autosomal Recessive 21; DFNB21		Tecta	MGI:109575	TECTA	Human only
600195	Venous Malformations, Multiple Cutaneous and Mucosal; VMCM	VMCM1	Tek	MGI:98664	TEK	Human only
187260	Telangiectasia, Hereditary Benign	HBT|Telangiectasia, Generalized Essential			TELAB1	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial	Terc	MGI:109558	TERC	Human only
609135	Aplastic Anemia		Terc	MGI:109558	TERC	Human only
127550	Dyskeratosis Congenita, Autosomal Dominant, 1; DKCA1	Dyskeratosis Congenita, Scoggins Type	Tert	MGI:1202709	TERT	Human only
178500	Pulmonary Fibrosis, Idiopathic	Fibrosing Alveolitis, Cryptogenic|Idiopathic Pulmonary Fibrosis, Familial	Tert	MGI:1202709	TERT	Human only
609135	Aplastic Anemia		Tert	MGI:1202709	TERT	Human only
187270	Telomerase Reverse Transcriptase; TERT	Telomerase Catalytic Subunit; TCS1	Tert	MGI:1202709	TERT	Human only
113620	Branchiooculofacial Syndrome; BOFS	Bof Syndrome|Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging|Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome|Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome	Tfap2a	MGI:104671	TFAP2A	Human only
605074	Renal Cell Carcinoma, Papillary, 1; RCCP1		Tfe3	MGI:98511	TFE3	Human only
612237	Chondrosarcoma, Extraskeletal Myxoid	Emc	Tfg	MGI:1338041	TFG	Human only
608175	Autoimmune Thyroid Disease, Susceptibility to, 3; AITD3		Tg	MGI:98733	TG	Human only
300228	Testicular Germ Cell Tumor 1; TGCT1				TGCT1	Human only
131300	Camurati-Engelmann Disease; CAEND	CED|Diaphyseal Dysplasia 1, Progressive; DPD1|Engelmann Disease|Progressive Diaphyseal Dysplasia; PDD	Tgfb1	MGI:98725	TGFB1	Human only
219700	Cystic Fibrosis; CF	Mucoviscidosis	Tgfb1	MGI:98725	TGFB1	Human only
107970	Arrhythmogenic Right Ventricular Dysplasia, Familial, 1; ARVD1		Tgfb3	MGI:98727	TGFB3	Human only
121820	Corneal Dystrophy, Epithelial Basement Membrane; EBMD	Cogan Corneal Dystrophy|Corneal Dystrophy, Anterior Basement Membrane|Corneal Dystrophy, Map-Dot-Fingerprint Type|Corneal Dystrophy, Microcystic	Tgfbi	MGI:99959	TGFBI	Human only
121900	Corneal Dystrophy, Groenouw Type I; CDGG1	Corneal Dystrophy, Punctate or Nodular|Granular Corneal Dystrophy, Type I; GCD1	Tgfbi	MGI:99959	TGFBI	Human only
122200	Corneal Dystrophy, Lattice Type I; LCD1	Cdl1|Lattice Corneal Dystrophy, Type I|Lcd	Tgfbi	MGI:99959	TGFBI	Human only
602082	Corneal Dystrophy of Bowman Layer, Type II; CDB2	Corneal Dystrophy, Honeycomb-Shaped|Corneal Dystrophy, Thiel-Behnke Type; CDTB|Thiel-Behnke Corneal Dystrophy; TBCD	Tgfbi	MGI:99959	TGFBI	Human only
607541	Corneal Dystrophy, Avellino Type; CDA	ACD|Avellino Corneal Dystrophy|Combined Granular-Lattice Corneal Dystrophy|Granular Corneal Dystrophy, Type II; CGD2	Tgfbi	MGI:99959	TGFBI	Human only
608470	Corneal Dystrophy of Bowman Layer, Type I; CDB1	Corneal Dystrophy, Geographic|Corneal Dystrophy, Reis-Bucklers Type; CDRB|Granular Corneal Dystrophy, Type III|Reis-Bucklers Corneal Dystrophy; RBCD	Tgfbi	MGI:99959	TGFBI	Human only
608471	Corneal Dystrophy, Lattice Type IIIA; CDL3A	Lattice Corneal Dystrophy, Type IIIA	Tgfbi	MGI:99959	TGFBI	Human only
608967	Loeys-Dietz Syndrome, Type 2A; LDS2A	Aortic Aneurysm, Familial Thoracic 5; AAT5	Tgfbr1	MGI:98728	TGFBR1	Human only
609129	Auditory Neuropathy, Autosomal Dominant, 1; AUNA1	Auditory Neuropathy, Nonsyndromic Dominant; NSDAN	Tgfbr1	MGI:98728	TGFBR1	Human only
609192	Loeys-Dietz Syndrome, Type 1A; LDS1A	Furlong Syndrome|Loeys-Dietz Aortic Aneurysm Syndrome	Tgfbr1	MGI:98728	TGFBR1	Human only
133239	Esophageal Cancer		Tgfbr2	MGI:98729	TGFBR2	Human only
610168	Loeys-Dietz Syndrome, Type 1B; LDS1B		Tgfbr2	MGI:98729	TGFBR2	Human only
610380	Loeys-Dietz Syndrome, Type 2B; LDS2B	Aortic Aneurysm, Familial Thoracic 3; AAT3|Marfan Syndrome, Type II, Formerly	Tgfbr2	MGI:98729	TGFBR2	Human only
142946	Holoprosencephaly 4; HPE4		Tgif1	MGI:1194497	TGIF1	Human only
605389	Hypotrichosis 1; HYPT1	HTS|Hypotrichosis Simplex, Generalized, Hereditary; HHS	Tgif1	MGI:1194497	TGIF1	Human only
242100	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1; NCIE1	CIE|Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form|IECN1|NCIE|Nonbullous Congenital Ichthyosiform Erythroderma 1	Tgm1	MGI:98730	TGM1	Human only
270300	Peeling Skin Syndrome	Deciduous Skin|Keratolysis Exfoliativa Congenita|Peeling Skin Syndrome, Type B|Pss|Skin Peeling, Familial Continuous Generalized	Tgm5	MGI:1921426	TGM5	Human only
609796	Peeling Skin Syndrome, Acral Type	Acral Peeling Skin Syndrome; APSS|Peeling Skin Syndrome, Type A	Tgm5	MGI:1921426	TGM5	Human only
605407	Segawa Syndrome, Autosomal Recessive	Dopa-Responsive Dystonia, Autosomal Recessive|Dystonia, Dopa-Responsive, Autosomal Recessive|Parkinsonism, Infantile, Autosomal Recessive|Tyrosine Hydroxylase Deficiency	Th	MGI:98735	TH	Human only
602629	Dystonia 6, Torsion; DYT6	Torsion Dystonia, Adult-Onset, Mixed Type	Thap1	MGI:1921004	THAP1	Human only
313850	Thoracoabdominal Syndrome; THAS				THAS	Human only
612926	Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6; AHUS6	Ahus, Susceptibility to, 6	Thbd	MGI:98736	THBD	Human only
603932	Intervertebral Disc Disease; IDD		Thbs2	MGI:98738	THBS2	Human only
274230	Thymoma, Familial	Thymic Neoplasia			THM	Human only
275220	Tibial Hemimelia	THM|Tibia, Absence of			THMA	Human only
187950	Thrombocythemia, Essential	Thrombocytosis, Autosomal Dominant|Thrombocytosis, Primary	Thpo	MGI:101875	THPO	Human only
145650	Thyroid Hormone Resistance, Selective Pituitary; PRTH	Hyperthyroidism, Familial, Due to Inappropriate Thyrotropin Secretion	Thrb	MGI:98743	THRB	Human only
304700	Mohr-Tranebjaerg Syndrome; MTS	Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency|Deafness-Dystonia-Optic Atrophy Syndrome; DDP|Dystonia-Deafness Syndrome; DDS	Timm8a1	MGI:1353433	TIMM8A	Human only
311150	Opticoacoustic Nerve Atrophy with Dementia	Jensen Syndrome	Timm8a1	MGI:1353433	TIMM8A	Human only
127550	Dyskeratosis Congenita, Autosomal Dominant, 1; DKCA1	Dyskeratosis Congenita, Scoggins Type	Tinf2	MGI:107246	TINF2	Human only
268130	Revesz Syndrome	Exudative Retinopathy with Bone Marrow Failure	Tinf2	MGI:107246	TINF2	Human only
607948	Mycobacterium Tuberculosis, Susceptibility to		Tirap	MGI:2152213	TIRAP	Human only
610799	Invasive Pneumococcal Disease, Recurrent Isolated, 1; IPD1		Tirap	MGI:2152213	TIRAP	Human only
611162	Malaria, Susceptibility to		Tirap	MGI:2152213	TIRAP	Human only
607748	Hypercholanemia, Familial; FHCA		Tjp2	MGI:1341872	TJP2	Human only
251880	Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type); MTDPS3		Tk2	MGI:1913266	TK2	Human only
314300	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia; TKCR	Goeminne Syndrome|TKC|TKCR Syndrome			TKCR	Human only
277730	Wernicke-Korsakoff Syndrome	Alcohol-Induced Encephalopathy|Transketolase Defect	Tkt	MGI:105992	TKT	Human only
613087	Atrial Septal Defect 6; ASD6		Tll1	MGI:106923	TLL1	Human only
246300	Leprosy, Susceptibility to, 3; LPRS3		Tlr1	MGI:1341295	TLR1	Human only
613223	Leprosy, Susceptibility to, 5; LPRS5		Tlr1	MGI:1341295	TLR1	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Tlr2	MGI:1346060	TLR2	Human only
246300	Leprosy, Susceptibility to, 3; LPRS3		Tlr2	MGI:1346060	TLR2	Human only
603075	Macular Degeneration, Age-Related, 1; ARMD1	Maculopathy, Age-Related, 1	Tlr3	MGI:2156367	TLR3	Human only
613002	Herpes Simplex Encephalitis, Susceptibility to, 2	Encephalopathy, Acute, Infection-Induced, 2; IIAE2	Tlr3	MGI:2156367	TLR3	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Tlr4	MGI:96824	TLR4	Human only
611488	Macular Degeneration, Age-Related, 10; ARMD10		Tlr4	MGI:96824	TLR4	Human only
601744	Systemic Lupus Erythematosus, Susceptibility to, 1; SLEB1		Tlr5	MGI:1858171	TLR5	Human only
608556	Legionnaire Disease, Susceptibility to		Tlr5	MGI:1858171	TLR5	Human only
226400	Epidermodysplasia Verruciformis; EV	EVER	Tmc6	MGI:1098686	TMC6	Human only
226400	Epidermodysplasia Verruciformis; EV	EVER	Tmc8	MGI:2669037	TMC8	Human only
612989	Optic Atrophy 7; OPA7		Tmem126a	MGI:1913521	TMEM126A	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Tmem127	MGI:1916720	TMEM127	Human only
603194	Meckel Syndrome, Type 2; MKS2	Meckel-Gruber Syndrome, Type 2	Tmem216	MGI:1920020	TMEM216	Human only
608091	Joubert Syndrome 2; JBTS2	Cerebellooculorenal Syndrome 2; CORS2	Tmem216	MGI:1920020	TMEM216	Human only
604400	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5; ARVD5	Arrhythmogenic Right Ventricular Cardiomyopathy 5; ARVC5	Tmem43	MGI:1921372	TMEM43	Human only
209900	Bardet-Biedl Syndrome; BBS		Tmem67	MGI:1923928	TMEM67	Human only
216360	COACH Syndrome	Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis|Joubert Syndrome with Congenital Hepatic Fibrosis	Tmem67	MGI:1923928	TMEM67	Human only
607361	Meckel Syndrome, Type 3; MKS3	Meckel-Gruber Syndrome, Type 3	Tmem67	MGI:1923928	TMEM67	Human only
610688	Joubert Syndrome 6; JBTS6		Tmem67	MGI:1923928	TMEM67	Human only
613550	Nephronophthisis 11; NPHP11		Tmem67	MGI:1923928	TMEM67	Human only
604273	Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1;	Mc5dn1 Mitochondrial Complex V (atp Synthase) Deficiency, Atpaf2 Type	Tmem70	MGI:1915068	TMEM70	Human only
600971	Deafness, Autosomal Recessive 6; DFNB6	Neurosensory Nonsyndromic Recessive Deafness 6; NSRD6	Tmie	MGI:2159400	TMIE	Human only
613740	Cardiomyopathy, Dilated, 1t; CMD1T		Tmpo	MGI:106920	TMPO	Human only
226200	Enterokinase Deficiency	Enteropeptidase Deficiency	Tmprss15	MGI:1197523	TMPRSS15	Human only
601072	Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8; DFNB8	Neurosensory Nonsyndromic Recessive Deafness 8; NSRD8	Tmprss3	MGI:2155445	TMPRSS3	Human only
605316	Deafness, Autosomal Recessive 10; DFNB10		Tmprss3	MGI:2155445	TMPRSS3	Human only
206200	Iron-Refractory Iron Deficiency Anemia; IRIDA	Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism|Iron-Handling Disorder, Hereditary|Pseudo-Iron-Deficiency Anemia	Tmprss6	MGI:1919003	TMPRSS6	Human only
601410	Diabetes Mellitus, Transient Neonatal, 1	DMTN|TNDM|Tndm1			TNDM	Human only
157300	Migraine with or without Aura, Susceptibility to, 1	MGAU; MA|MGR1|Migraine	Tnf	MGI:104798	TNF	Human only
248310	Plasmodium Falciparum Blood Infection Level	Pfbi|Plasmodium Falciparum Parasitemia	Tnf	MGI:104798	TNF	Human only
600807	Asthma, Susceptibility to	Asthma, Bronchial	Tnf	MGI:104798	TNF	Human only
611162	Malaria, Susceptibility to		Tnf	MGI:104798	TNF	Human only
275355	Squamous Cell Carcinoma, Head and Neck; HNSCC		Tnfrsf10b	MGI:1341090	TNFRSF10B	Human only
174810	Polyostotic Osteolytic Dysplasia, Hereditary Expansile; HEPOD	Expansile Osteolysis, Familial; EOF|Familial Expansile Osteolysis; FEO|McCabe Disease|Osteolysis, Familial Expansile; OFE	Tnfrsf11a	MGI:1314891	TNFRSF11A	Human only
259500	Osteogenic Sarcoma	Osteosarcoma; OSRC	Tnfrsf11a	MGI:1314891	TNFRSF11A	Human only
602080	Paget Disease of Bone; PDB		Tnfrsf11a	MGI:1314891	TNFRSF11A	Human only
612301	Osteopetrosis, Autosomal Recessive 7; OPTB7	Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia	Tnfrsf11a	MGI:1314891	TNFRSF11A	Human only
239000	Paget Disease, Juvenile	Hyperostosis Corticalis Deformans Juvenilis|Hyperphosphatasemia, Chronic Congenital Idiopathic|Hyperphosphatasia, Familial Idiopathic|Juvenile Paget Disease; JPD|Osteoectasia, Familial	Tnfrsf11b	MGI:109587	TNFRSF11B	Human only
240500	Immunodeficiency, Common Variable, 2; CVID2	Antibody Deficiency Due to Taci Defect|Hypogammaglobulinemia Due to Taci Deficiency	Tnfrsf13b	MGI:1889411	TNFRSF13B	Human only
609529	Immunoglobulin A Deficiency 2; IGAD2	Iga, Selective Deficiency of, Taci-Related|Immunoglobulin A, Selective Deficiency of, Taci-Related	Tnfrsf13b	MGI:1889411	TNFRSF13B	Human only
613494	Immunodeficiency, Common Variable, 4; CVID4	Antibody Deficiency Due to Baffr Defect	Tnfrsf13c	MGI:1919299	TNFRSF13C	Human only
259710	Osteopetrosis, Autosomal Recessive 2; OPTB2	Osteopetrosis, Mild Autosomal Recessive Form|Osteopetrosis, Osteoclast-Poor	Tnfsf11	MGI:1100089	TNFSF11	Human only
608446	Myocardial Infarction, Susceptibility to		Tnfsf4	MGI:104511	TNFSF4	Human only
192600	Cardiomyopathy, Familial Hypertrophic, 1; CMH1	Asymmetric Septal Hypertrophy; ASH|Cmh|Hypertrophic Subaortic Stenosis, Idiopathic|Ventricular Hypertrophy, Hereditary	Tnnc1	MGI:98779	TNNC1	Human only
611879	Cardiomyopathy, Dilated, 1z; CMD1Z		Tnnc1	MGI:98779	TNNC1	Human only
613243	Cardiomyopathy, Familial Hypertrophic, 13; CMH13		Tnnc1	MGI:98779	TNNC1	Human only
601680	Arthrogryposis, Distal, Type 2B; DA2B	Arthrogryposis Multiplex Congenita, Distal, Type 2B|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Freeman-Sheldon Syndrome Variant; FSSV|Sheldon-Hall Syndrome; SHS	Tnni2	MGI:105070	TNNI2	Human only
115210	Cardiomyopathy, Familial Restrictive, 1; RCM1	Rcm	Tnni3	MGI:98783	TNNI3	Human only
611880	Cardiomyopathy, Dilated, 2A; CMD2A	Cardiomyopathy, Congestive, Autosomal Recessive|Cardiomyopathy, Dilated, Autosomal Recessive	Tnni3	MGI:98783	TNNI3	Human only
613286	Cardiomyopathy, Dilated, 1ff; CMD1FF		Tnni3	MGI:98783	TNNI3	Human only
613690	Cardiomyopathy, Familial Hypertrophic, 7; CMH7		Tnni3	MGI:98783	TNNI3	Human only
605355	Nemaline Myopathy 5; NEM5	Amish Nemaline Myopathy|Nemaline Myopathy, Amish Type; ANM|Nemaline Myopathy, Caused By Mutation in the Troponin T1 Gene	Tnnt1	MGI:1333868	TNNT1	Human only
115195	Cardiomyopathy, Familial Hypertrophic, 2; CMH2		Tnnt2	MGI:104597	TNNT2	Human only
612422	Cardiomyopathy, Familial Restrictive, 3; RCM3		Tnnt2	MGI:104597	TNNT2	Human only
601680	Arthrogryposis, Distal, Type 2B; DA2B	Arthrogryposis Multiplex Congenita, Distal, Type 2B|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Freeman-Sheldon Syndrome Variant; FSSV|Sheldon-Hall Syndrome; SHS	Tnnt3	MGI:109550	TNNT3	Human only
130020	Ehlers-Danlos Syndrome, Type III	Benign Hypermobility Syndrome|EDS III|Eds3|Ehlers-Danlos Syndrome, Hypermobility Type	Tnxb	MGI:1932137	TNXB	Human only
148500	Tylosis with Esophageal Cancer; TOC	Keratosis Palmaris Et Plantaris with Esophageal Cancer			TOC	Human only
609923	Retinitis Pigmentosa 31; RP31		Topors	MGI:2146189	TOPORS	Human only
114500	Colorectal Cancer; CRC	Colon Cancer	Trp53	MGI:98834	TP53	Human only
114550	Hepatocellular Carcinoma	Cancer, Hepatocellular|HCC|Liver Cancer|Liver Cell Carcinoma; LCC	Trp53	MGI:98834	TP53	Human only
161550	Nasopharyngeal Carcinoma, Susceptibility to, 2	Npca2	Trp53	MGI:98834	TP53	Human only
202300	Adrenocortical Carcinoma, Hereditary; ADCC		Trp53	MGI:98834	TP53	Human only
259500	Osteogenic Sarcoma	Osteosarcoma; OSRC	Trp53	MGI:98834	TP53	Human only
260500	Papilloma of Choroid Plexus		Trp53	MGI:98834	TP53	Human only
607107	Nasopharyngeal Carcinoma	Npc|Npca	Trp53	MGI:98834	TP53	Human only
103285	ADULT Syndrome	Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome	Trp63	MGI:1330810	TP63	Human only
106260	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	AEC Syndrome|Hay-Wells Syndrome	Trp63	MGI:1330810	TP63	Human only
129400	Rapp-Hodgkin Syndrome; RHS		Trp63	MGI:1330810	TP63	Human only
603543	Limb-Mammary Syndrome; LMS		Trp63	MGI:1330810	TP63	Human only
605289	Split-Hand/Foot Malformation 4; SHFM4		Trp63	MGI:1330810	TP63	Human only
612267	Skin/Hair/Eye Pigmentation, Variation In, 10; SHEP10	Skin/Hair/Eye Pigmentation 10, Blond/Brown Hair	Tpcn2	MGI:2385297	TPCN2	Human only
608516	Major Depressive Disorder; MDD		Tph2	MGI:2651811	TPH2	Human only
613003	Attention Deficit-Hyperactivity Disorder, Susceptibility to, 7	Adhd7	Tph2	MGI:2651811	TPH2	Human only
190450	Triosephosphate Isomerase 1; TPI1		Tpi1	MGI:98797	TPI1	Human only
115196	Cardiomyopathy, Familial Hypertrophic, 3; CMH3		Tpm1	MGI:98809	TPM1	Human only
611878	Cardiomyopathy, Dilated, 1y; CMD1Y		Tpm1	MGI:98809	TPM1	Human only
108120	Arthrogryposis, Distal, Type 1A; DA1A	Arthrogryposis Multiplex Congenita, Distal, Type I; AMCD1|Arthrogryposis, Distal, Type 1; DA1	Tpm2	MGI:98810	TPM2	Human only
601680	Arthrogryposis, Distal, Type 2B; DA2B	Arthrogryposis Multiplex Congenita, Distal, Type 2B|Arthrogryposis Multiplex Congenita, Distal, Type II, with Craniofacial Abnormalities|Freeman-Sheldon Syndrome Variant; FSSV|Sheldon-Hall Syndrome; SHS	Tpm2	MGI:98810	TPM2	Human only
609285	Nemaline Myopathy 4; NEM4		Tpm2	MGI:98810	TPM2	Human only
609284	Nemaline Myopathy 1; NEM1		Tpm3	MGI:1890149	TPM3	Human only
274500	Thyroid Dyshormonogenesis 2A; TDH2A	Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2A|Iodide Peroxidase Deficiency|Thyroid Hormonogenesis, Genetic Defect In, 2A|Thyroid Peroxidase Deficiency	Tpo	MGI:98813	TPO	Human only
613307	Deafness, Autosomal Recessive 79; DFNB79		Tprn	MGI:2139535	TPRN	Human only
609625	Chromosome 10q26 Deletion Syndrome	Terminal Chromosome 10q26 Deletion Syndrome			TQDS	Human only
313400	Spondyloepiphyseal Dysplasia Tarda, X-Linked; SEDT	SED Tarda, X-Linked|Spondyloepiphyseal Dysplasia, Late	Trappc2	MGI:1913476	TRAPPC2	Human only
613192	Mental Retardation, Autosomal Recessive 13; MRT13		Trappc9	MGI:1923760	TRAPPC9	Human only
612119	Trehalase Deficiency	Trehalose Intolerance	Treh	MGI:1926230	TREH	Human only
221770	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy;	Brain-Bone-Fat Disease|Dementia, Prefrontal, with Bone Cysts|Dementia, Progressive, with Lipomembranous Polycystic Osteodysplasia|Nasu-Hakola Disease; NHD|Plosl|Presenile Dementia with Bone Cysts	Trem2	MGI:1913150	TREM2	Human only
152700	Systemic Lupus Erythematosus; SLE		Trex1	MGI:1328317	TREX1	Human only
192315	Vasculopathy, Retinal, with Cerebral Leukodystrophy; RVCL	Cerebroretinal Vasculopathy, Hereditary; CRV|Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena	Trex1	MGI:1328317	TREX1	Human only
610448	Chilblain Lupus 1; CHBL1		Trex1	MGI:1328317	TREX1	Human only
275120	Thyrotropin-Releasing Hormone Deficiency	Hypothalamic Hypothyroidism|TRH Deficiency	Trh	MGI:98823	TRH	Human only
609649	Trichilemmal Cyst 1; TRICY1	Pilar Cyst|Tricholemmal Cyst			TRICY1	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Trim24	MGI:109275	TRIM24	Human only
209900	Bardet-Biedl Syndrome; BBS		Trim32	MGI:1917057	TRIM32	Human only
188550	Thyroid Carcinoma, Papillary	Familial Nonmedullary Thyroid Cancer, Papillary|Nonmedullary Thyroid Carcinoma, Papillary|Papillary Carcinoma of Thyroid; PACT; PTC; TPC	Trim33	MGI:2137357	TRIM33	Human only
253250	Mulibrey Nanism	Muscle-Liver-Brain-Eye Nanism|Perheentupa Syndrome|Pericardial Constriction and Growth Failure	Trim37	MGI:2153072	TRIM37	Human only
609823	Deafness, Autosomal Recessive 28; DFNB28		Triobp	MGI:1349410	TRIOBP	Human only
613603	Chromosome 4q32.1-Q32.2 Triplication Syndrome				TRIP4Q32.1Q32.2	Human only
580000	Deafness, Aminoglycoside-Induced	Deafness, Streptomycin-Induced|Streptomycin Ototoxicity	Trmu	MGI:1919276	TRMU	Human only
613070	Liver Failure, Infantile, Transient; LFIT		Trmu	MGI:1919276	TRMU	Human only
603965	Focal Segmental Glomerulosclerosis 2; FSGS2	Glomerulosclerosis, Focal Segmental, 2	Trpc6	MGI:109523	TRPC6	Human only
613216	Night Blindness, Congenital Stationary, Type 1C; CSNB1C	Csnb, Complete, Autosomal Recessive	Trpm1	MGI:1330305	TRPM1	Human only
604559	Progressive Familial Heart Block, Type IB; PFHB1B	Pfhbib	Trpm4	MGI:1915917	TRPM4	Human only
602014	Hypomagnesemia 1, Intestinal; HOMG1	Homg|Hypomagnesemia with Secondary Hypocalcemia; HSH|Hypomagnesemia, Intestinal, with Secondary Hypocalcemia|Hypomagnesemic Tetany	Trpm6	MGI:2675603	TRPM6	Human only
105500	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Als-Pdc|Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex of Guam|Guam Disease	Trpm7	MGI:1929996	TRPM7	Human only
150230	Trichorhinophalangeal Syndrome, Type II; TRPS2	Chromosome 8q24.1 Deletion Syndrome|Langer-Giedion Syndrome; LGS	Trps1	MGI:1927616	TRPS1	Human only
190351	Trichorhinophalangeal Syndrome, Type III; TRPS3	Sugio-Kajii Syndrome	Trps1	MGI:1927616	TRPS1	Human only
113500	Brachyolmia Type 3	Brachyolmia, Autosomal Dominant|Brachyrachia	Trpv4	MGI:1926945	TRPV4	Human only
156530	Metatropic Dysplasia	Metatropic Dwarfism	Trpv4	MGI:1926945	TRPV4	Human only
168400	Parastremmatic Dwarfism		Trpv4	MGI:1926945	TRPV4	Human only
181405	Scapuloperoneal Spinal Muscular Atrophy; SPSMA	Amyotrophy, Neurogenic Scapuloperoneal, New England Type	Trpv4	MGI:1926945	TRPV4	Human only
184095	Spondyloepiphyseal Dysplasia, Maroteaux Type	Pseudo-Morquio Syndrome, Type 2|Sed, Maroteaux Type	Trpv4	MGI:1926945	TRPV4	Human only
184252	Spondylometaphyseal Dysplasia, Kozlowski Type; SMDK	SMD, Kozlowski Type	Trpv4	MGI:1926945	TRPV4	Human only
606071	Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C; CMT2C|Charcot-Marie-Tooth Neuropathy, Type 2C|HMSN IIC	Trpv4	MGI:1926945	TRPV4	Human only
613508	Sodium Serum Level Quantitative Trait Locus 1; SSQTL1		Trpv4	MGI:1926945	TRPV4	Human only
606690	Lymphangioleiomyomatosis; LAM	Lymphangiomyomatosis	Tsc1	MGI:1929183	TSC1	Human only
607341	Focal Cortical Dysplasia of Taylor; FCDT	Cortical Dysplasia of Taylor; CDT	Tsc1	MGI:1929183	TSC1	Human only
606690	Lymphangioleiomyomatosis; LAM	Lymphangiomyomatosis	Tsc2	MGI:102548	TSC2	Human only
612389	Pontocerebellar Hypoplasia, Type 2B; PCH2B		Tsen2	MGI:2141599	TSEN2	Human only
612390	Pontocerebellar Hypoplasia, Type 2c; PCH2C		Tsen34	MGI:1913328	TSEN34	Human only
225753	Pontocerebellar Hypoplasia, Type 4; PCH4	Encephalopathy, Fatal Infantile, with Olivopontocerebellar Hypoplasia	Tsen54	MGI:1923515	TSEN54	Human only
277470	Pontocerebellar Hypoplasia, Type 2A; PCH2A	PCH2|Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy|Volendam Neurodegenerative Disease	Tsen54	MGI:1923515	TSEN54	Human only
610505	Combined Oxidative Phosphorylation Deficiency 3; COXPD3	Concentric Cardiomyopathy, Hypotonia, and Lactic Acidosis|Encephalomyopathy, Respiratory Failure, and Lactic Acidosis	Tsfm	MGI:1913649	TSFM	Human only
603040	Tumor Suppressor Gene on Chromosome 11	Nonsmall Cell Lung Cancer Suppressor|TSG11			TSG11	Human only
275100	Hypothyroidism, Congenital, Nongoitrous, 4; CHNG4	Thyroid-Stimulating Hormone Deficiency|Thyrotropin Deficiency, Isolated|TSH Deficiency	Tshb	MGI:98848	TSHB	Human only
612306	Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1; TSHQTL1	Thyrotropin Quantitative Trait Locus 1			TSHQTL1	Human only
603372	Thyroid-Stimulating Hormone Receptor; TSHR	Thyrotropin Receptor	Tshr	MGI:98849	TSHR	Human only
603373	Hyperthyroidism, Familial Gestational		Tshr	MGI:98849	TSHR	Human only
609152	Hyperthyroidism, Nonautoimmune	Hyperthyroidism, Congenital Nonautoimmune|Hyperthyroidism, Nonautoimmune, Autosomal Dominant|Toxic Thyroid Hyperplasia, Autosomal Dominant	Tshr	MGI:98849	TSHR	Human only
613310	Exudative Vitreoretinopathy 5; EVR5		Tspan12	MGI:1889818	TSPAN12	Human only
300210	Mental Retardation, X-Linked 58; MRX58		Tspan7	MGI:1298407	TSPAN7	Human only
608800	Sudden Infant Death with Dysgenesis of the Testes Syndrome; SIDDT		Tspyl1	MGI:1298395	TSPYL1	Human only
613636	Tuberculin Skin Test Reactivity, Absence of	Tst Reactivity, Absence of|Tst1			TST1	Human only
613637	Tuberculin Skin Test Reactivity Quantitative Trait Locus	Tst Reactivity Quantitative Trait Locus|Tst2			TST2	Human only
604432	Spinocerebellar Ataxia 11; SCA11		Ttbk2	MGI:2155779	TTBK2	Human only
613464	Retinitis Pigmentosa 51; RP51		Ttc8	MGI:1923510	TTC8	Human only
603689	Hereditary Myopathy with Early Respiratory Failure; HMERF	Edstrom Myopathy|Myopathy, Proximal, with Early Respiratory Muscle Involvement; MPRM	Ttn	MGI:98864	TTN	Human only
611705	Myopathy, Early-Onset, with Fatal Cardiomyopathy	Eomfc	Ttn	MGI:98864	TTN	Human only
105210	Amyloidosis, Hereditary, Transthyretin-Related	Hereditary Amyloidosis, Transthyretin-Related|Transthyretin Amyloidosis	Ttr	MGI:98865	TTR	Human only
115430	Carpal Tunnel Syndrome; CTS1	Amyotrophy, Thenar, of Carpal Origin|CTS	Ttr	MGI:98865	TTR	Human only
145680	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	Hyperthyroxinemia, Dysprealbuminemic|Hyperthyroxinemia, Dystransthyretinemic	Ttr	MGI:98865	TTR	Human only
611603	Lissencephaly 3; LIS3		Tuba1a	MGI:98869	TUBA1A	Human only
613180	Polymicrogyria with Optic Nerve Hypoplasia		Tuba8	MGI:1858225	TUBA8	Human only
613112	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related		Tubb1	MGI:107814	TUBB1	Human only
610031	Polymicrogyria, Asymmetric		Tubb2b	MGI:1920960	TUBB2B	Human only
610678	Combined Oxidative Phosphorylation Deficiency 4; COXPD4		Tufm	MGI:1923686	TUFM	Human only
609428	Tukel Syndrome	CFEOM-U|Fibrosis of Extraocular Muscles, Congenital, with Ulnar Hand Anomalies			TUKLS	Human only
613843	Leber Congenital Amaurosis 15; LCA15		Tulp1	MGI:109571	TULP1	Human only
176807	Prostate Cancer		Tusc3	MGI:1933134	TUSC3	Human only
611093	Mental Retardation, Autosomal Recessive 7; MRT7	Mental Retardation, Autosomal Recessive 22; MRT22	Tusc3	MGI:1933134	TUSC3	Human only
123100	Craniosynostosis, Type 1; CRS1	Craniosynostosis; CRS	Twist1	MGI:98872	TWIST1	Human only
610852	Ciliary Dyskinesia, Primary, 6; CILD6		Txndc3	MGI:1920662	TXNDC3	Human only
611521	Tyrosine Kinase 2 Deficiency	Hies with Atypical Mycobacteriosis, Autosomal Recessive|Hyper-Ige Syndrome with Atypical Mycobacteriosis, Autosomal Recessive|Tyk2 Deficiency	Tyk2	MGI:1929470	TYK2	Human only
603041	Mitochondrial DNA Depletion Syndrome 1 (mngie Type); MTDPS1	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related|Mngie, Tymp-Related|Myoneurogastrointestinal Encephalopathy Syndrome|Polip Syndrome|Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction	Tymp	MGI:1920212	TYMP	Human only
103470	Albinism, Ocular, with Sensorineural Deafness	Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive; WS2-OA	Tyr	MGI:98880	TYR	Human only
203100	Albinism, Oculocutaneous, Type IA; OCA1A	Albinism I|Oculocutaneous Albinism, Type I; OCA1|Oculocutaneous Albinism, Tyrosinase-Negative; ATN	Tyr	MGI:98880	TYR	Human only
606952	Albinism, Oculocutaneous, Type IB; OCA1B	Albinism, Yellow Mutant Type|Oculocutaneous Albinism, Type IB	Tyr	MGI:98880	TYR	Human only
203290	Albinism, Oculocutaneous, Type III; OCA3	Albinism III|Oculocutaneous Albinism, Type III|Rufous Oculocutaneous Albinism; ROCA|Xanthism	Tyrp1	MGI:98881	TYRP1	Human only
181600	Sclerotylosis	Huriez Syndrome; HRZ|Scleroatrophic and Keratotic Dermatosis of Limbs|TYS			TYS	Human only
612670	Uric Acid Concentration, Serum, Quantitative Trait Locus 3; UAQTL3	Gout Susceptibility 3; GOUT3			UAQTL3	Human only
612671	Uric Acid Concentration, Serum, Quantitative Trait Locus 4; UAQTL4	Gout Susceptibility 4; GOUT4			UAQTL4	Human only
301830	Spinal Muscular Atrophy, X-Linked 2; SMAX2	AMC, Distal, X-Linked|Arthrogryposis Multiplex Congenita, Distal, X-Linked|Arthrogryposis, X-Linked, Type I; AMCX1|Spinal Muscular Atrophy, Infantile X-Linked; XLSMA|Spinal Muscular Atrophy, X-Linked Lethal Infantile	Uba1	MGI:98890	UBA1	Human only
119540	Cleft Palate, Isolated; CPI		Ubb	MGI:98888	UBB	Human only
121800	Corneal Dystrophy, Crystalline, of Schnyder	SCCD|Schnyder Corneal Dystrophy; SCD|Schnyder Crystalline Corneal Dystrophy	Ubiad1	MGI:1918957	UBIAD1	Human only
606661	Melanoma, Uveal, Susceptibility to, 2	UVM2			UBM2	Human only
168600	Parkinson Disease, Late-Onset; PD	Park	Uchl1	MGI:103149	UCHL1	Human only
613643	Parkinson Disease 5, Autosomal Dominant; PARK5		Uchl1	MGI:103149	UCHL1	Human only
601665	Obesity		Ucp1	MGI:98894	UCP1	Human only
601665	Obesity		Ucp2	MGI:109354	UCP2	Human only
607447	Body Mass Index Quantitative Trait Locus 4; BMIQ4	Obesity, Susceptibility to	Ucp2	MGI:109354	UCP2	Human only
601665	Obesity		Ucp3	MGI:1099787	UCP3	Human only
143500	Gilbert Syndrome	Hyperbilirubinemia I|Hyperbilirubinemia, Arias Type|Hyperbilirubinemia, Gilbert Type; HBLRG	Ugt1a1	MGI:98898	UGT1A1	Human only
218800	Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome|Hyperbilirubinemia, Crigler-Najjar Type I; HBLRCN1	Ugt1a1	MGI:98898	UGT1A1	Human only
237900	Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN		Ugt1a1	MGI:98898	UGT1A1	Human only
601816	Bilirubin, Serum Level of, Quantitative Trait Locus 1; BILIQTL1		Ugt1a1	MGI:98898	UGT1A1	Human only
606785	Crigler-Najjar Syndrome, Type II	Hyperbilirubinemia, Crigler-Najjar Type II; HBLRCN2	Ugt1a1	MGI:98898	UGT1A1	Human only
603860	Medullary Cystic Kidney Disease 2; MCKD2	Medullary Cystic Kidney Disease 2, Autosomal Dominant; ADMCKD2	Umod	MGI:102674	UMOD	Human only
609886	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria		Umod	MGI:102674	UMOD	Human only
258900	Orotic Aciduria	Oprt and Odc Deficiency|Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency|Orotic Aciduria I|Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency|UMP Synthase Deficiency|Uridine Monophosphate Synthase Deficiency	Umps	MGI:1298388	UMPS	Human only
604011	Unc119, C. Elegans, Homolog Of; UNC119		Unc119	MGI:1328357	UNC119	Human only
608898	Hemophagocytic Lymphohistiocytosis, Familial, 3; FHL3	Hlh3|Hplh3	Unc13d	MGI:1917700	UNC13D	Human only
610551	Herpes Simplex Encephalitis, Susceptibility to, 1	Encephalopathy, Acute, Infection-Induced, 1; IIAE1	Unc93b1	MGI:1859307	UNC93B1	Human only
608106	Immunodeficiency with Hyper-Igm, Type 5; HIGM5	Hyper-Igm Syndrome 5	Ung	MGI:109352	UNG	Human only
613161	Beta-Ureidopropionase Deficiency		Upb1	MGI:2143535	UPB1	Human only
300676	Mental Retardation, X-Linked, Syndromic 14; MRXS14		Upf3b	MGI:1915384	UPF3B	Human only
191830	Renal Adysplasia	Renal Agenesis|Renal Aplasia	Upk3a	MGI:98914	UPK3A	Human only
124000	Mitochondrial Complex III Deficiency		Uqcrb	MGI:1914780	UQCRB	Human only
124000	Mitochondrial Complex III Deficiency		Uqcrq	MGI:107807	UQCRQ	Human only
276880	Urocanase Deficiency		Uroc1	MGI:2385332	UROC1	Human only
144250	Hyperlipidemia, Familial Combined; FCHL	Familial Combined Hyperlipidemia	Usf1	MGI:99542	USF1	Human only
602491	Hyperlipidemia, Combined, 1	Hyperlipidemia, Familial Combined, 1; FCHL1|HYPLIP1	Usf1	MGI:99542	USF1	Human only
276900	Usher Syndrome, Type I; USH1	Us1			USH1A	Human only
602097	Usher Syndrome, Type IE; USH1E				USH1E	Human only
606943	Usher Syndrome, Type IG; USH1G		Ush1g	MGI:2450757	USH1G	Human only
612632	Usher Syndrome, Type IH; USH1H				USH1H	Human only
268000	Retinitis Pigmentosa; RP		Ush2a	MGI:1341292	USH2A	Human only
305700	Spermatogenic Failure, X-Linked, 1; SPGFX1	Del Castillo Syndrome|Germinal Cell Aplasia|Sertoli Cell-Only Syndrome	Usp26	MGI:1933247	USP26	Human only
415000	Spermatogenic Failure, Y-Linked, 2; SPGFY2	Azoospermia, Nonobstructive, Y-Linked|Oligospermia, Nonobstructive, Y-Linked|Oligozoospermia, Nonobstructive, Y-Linked|Spermatogenic Failure, Nonobstructive, Y-Linked	Usp9y	MGI:1313274	USP9Y	Human only
606660	Melanoma, Uveal, Susceptibility to, 1	UVM1			UVM1	Human only
600145	Sacral Defect with Anterior Meningocele		Vangl1	MGI:2159344	VANGL1	Human only
182980	Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant		Vapb	MGI:1928744	VAPB	Human only
608627	Amyotrophic Lateral Sclerosis 8; ALS8		Vapb	MGI:1928744	VAPB	Human only
143200	Wagner Syndrome 1; WGN1	Erosive Vitreoretinopathy; ERVR|Hyaloideoretinal Degeneration of Wagner|Wagner Vitreoretinal Degeneration	Vcan	MGI:102889	VCAN	Human only
611407	Cardiomyopathy, Dilated, 1w; CMD1W		Vcl	MGI:98927	VCL	Human only
613255	Cardiomyopathy, Familial Hypertrophic, 15; CMH15		Vcl	MGI:98927	VCL	Human only
604492	Voltage-Dependent Anion Channel 1; VDAC1	Porin	Vdac1	MGI:106919	VDAC1	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Vegfa	MGI:103178	VEGFA	Human only
603933	Microvascular Complications of Diabetes, Susceptibility to, 1; MVCD1	Proliferative Retinopathy, Diabetic, Susceptibility to	Vegfa	MGI:103178	VEGFA	Human only
192240	Vascular Endothelial Growth Factor A; VEGFA		Vegfa	MGI:103178	VEGFA	Human only
144700	Renal Cell Carcinoma, Nonpapillary; RCC	Hypernephroma	Vhl	MGI:103223	VHL	Human only
171300	Pheochromocytoma Pheochromocytoma, Susceptibility to		Vhl	MGI:103223	VHL	Human only
193060	Vimentin; VIM		Vim	MGI:98932	VIM	Human only
122700	Coumarin Resistance	Coumarin, Poor Metabolism of	Vkorc1	MGI:106442	VKORC1	Human only
607473	Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2; VKCFD2		Vkorc1	MGI:106442	VKORC1	Human only
224050	Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1; CAMRQ1	Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion 1|Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive|Cerebellar Hypoplasia, Vldlr-Associated|Dysequilibrium Syndrome; DES	Vldlr	MGI:98935	VLDLR	Human only
310440	Myopathy, X-Linked, with Excessive Autophagy; MEAX	XMEA	Vma21	MGI:1914298	VMA21	Human only
153840	Macular Dystrophy, Atypical Vitelliform; VMD1	Vitelliform Macular Dystrophy, Atypical			VMD1	Human only
603570	Vanin 1; VNN1		Vnn1	MGI:108395	VNN1	Human only
216550	Cohen Syndrome; COH1	CHS1, Formerly|Hypotonia, Obesity, and Prominent Incisors|Pepper Syndrome	Vps13b	MGI:1916380	VPS13B	Human only
208085	Arthrogryposis, Renal Dysfunction, and Cholestasis 1; ARCS1	Arc Syndrome; ARCS	Vps33b	MGI:2446237	VPS33B	Human only
607596	Pontocerebellar Hypoplasia, Type 1; PCH1	Pontocerebellar Hypoplasia with Anterior Horn Cell Disease|Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy	Vrk1	MGI:1261847	VRK1	Human only
193235	Vitreoretinopathy, Neovascular Inflammatory; VRNI	Proliferative Vitreoretinopathy; PVR			VRNI	Human only
313000	Spatial Visualization, Aptitude for				VSPA	Human only
122000	Corneal Dystrophy, Posterior Polymorphous, 1; PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior|Posterior Polymorphous Corneal Dystrophy; PPCD	Vsx1	MGI:1890816	VSX1	Human only
148300	Keratoconus 1; KTCN1		Vsx1	MGI:1890816	VSX1	Human only
610092	Microphthalmia, Isolated, with Coloboma 3; MCOPCB3		Vsx2	MGI:88401	VSX2	Human only
610093	Microphthalmia, Isolated 2; MCOP2	Anophthalmia, Clinical, Isolated	Vsx2	MGI:88401	VSX2	Human only
193200	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6;	Vamas6			VTLG	Human only
193000	Vesicoureteral Reflux 1; VUR1				VUR	Human only
277480	Von Willebrand Disease, Type 3; VWD3	Von Willebrand Disease, Type III|Vwd, Type 3	Vwf	MGI:98941	VWF	Human only
613554	Von Willebrand Disease, Type 2; VWD2	Von Willebrand Disease, Type II	Vwf	MGI:98941	VWF	Human only
606713	Van Der Woude Syndrome 2; VWS2				VWS2	Human only
604547	Van Der Woude Syndrome 1, Modifier of	VWSM			VWSM	Human only
612469	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome; WAGRO	Chromosome 11p13-P12 Deletion Syndrome|Wagr Syndrome with Obesity|Wagro Syndrome			WAGRO	Human only
300299	Neutropenia, Severe Congenital, X-Linked; SCNX	Xln	Was	MGI:105059	WAS	Human only
313900	Thrombocytopenia 1; THC1	THC|Thrombocytopenia, X-Linked; XLT	Was	MGI:105059	WAS	Human only
604454	Welander Distal Myopathy; WDM	Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant|Myopathy, Distal, Swedish			WDM	Human only
209900	Bardet-Biedl Syndrome; BBS		Wdpcp	MGI:2144467	WDPCP	Human only
137800	Glioma Susceptibility 1; GLM1		Wdr11	MGI:1920230	WDR11	Human only
613610	Cranioectodermal Dysplasia 2; CED2		Wdr35	MGI:1921932	WDR35	Human only
137760	Glaucoma, Primary Open Angle; POAG		Wdr36	MGI:1917819	WDR36	Human only
609887	Glaucoma 1, Open Angle, G; GLC1G		Wdr36	MGI:1917819	WDR36	Human only
600176	Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts	Pachygyria with Mental Retardation and Seizures	Wdr62	MGI:1923696	WDR62	Human only
613211	Amelogenesis Imperfecta, Hypomaturation Type, Iia3; AI2A3		Wdr72	MGI:3583957	WDR72	Human only
125853	Diabetes Mellitus, Noninsulin-Dependent; NIDDM	Diabetes Mellitus, Type II; T2D|Noninsulin-Dependent Diabetes Mellitus	Wfs1	MGI:1328355	WFS1	Human only
600965	Deafness, Autosomal Dominant 6; DFNA6	Deafness, Autosomal Dominant 14; DFNA14|Deafness, Autosomal Dominant 38; DFNA38	Wfs1	MGI:1328355	WFS1	Human only
608710	Wegener Granulomatosis	WG			WG	Human only
194190	Wolf-Hirschhorn Syndrome; WHS	Chromosome 4p16.3 Deletion Syndrome|Pitt Syndrome|Pitt-Rogers-Danks Syndrome; PRDS			WHCR	Human only
601626	Leukemia, Acute Myeloid; AML		Whsc1l1	MGI:2142581	WHSC1L1	Human only
208230	Arthropathy, Progressive Pseudorheumatoid, of Childhood; PPAC	Progressive Pseudorheumatoid Arthropathy of Childhood|Progressive Pseudorheumatoid Dysplasia; PPD|Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy; SEDT-PA	Wisp3	MGI:2685581	WISP3	Human only
153600	Macroglobulinemia, Waldenstrom, Susceptibility to, 1; WM1				WM1	Human only
610430	Macroglobulinemia, Waldenstrom, Susceptibility to, 2; WM2				WM2	Human only
145260	Pseudohypoaldosteronism, Type II; PHA2	Hyperpotassemia and Hypertension, Familial|Hypertensive Hyperkalemia, Familial	Wnk1	MGI:2442092	WNK1	Human only
201300	Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A	Acroosteolysis, Giaccai Type|Acroosteolysis, Neurogenic|Hsan IIA|Morvan Disease|Neuropathy, Congenital Sensory|Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive|Neuropathy, Hereditary Sensory, Type IIA; HSN2A; HSN IIA|Neuropathy, Progressive Sensory, of Children	Wnk1	MGI:2442092	WNK1	Human only
224750	Schopf-Schulz-Passarge Syndrome; SSPS	Eccrine Tumors with Ectodermal Dysplasia|Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis	Wnt10a	MGI:108071	WNT10A	Human only
257980	Odontoonychodermal Dysplasia; OODD		Wnt10a	MGI:108071	WNT10A	Human only
225300	Split-Hand/Foot Malformation 6; SHFM6	Ectrodactyly, Autosomal Recessive	Wnt10b	MGI:108061	WNT10B	Human only
273395	Tetraamelia, Autosomal Recessive		Wnt3	MGI:98955	WNT3	Human only
158330	Mullerian Aplasia and Hyperandrogenism	Mullerian Duct Failure and Hyperandrogenism	Wnt4	MGI:98957	WNT4	Human only
277000	Mayer-Rokitansky-Kuster-Hauser Syndrome	Congenital Absence of Uterus and Vagina; CAUV|Mrk Anomaly|Mrkh Anomaly|Mrkh Syndrome|Mullerian Aplasia/Dysgenesis|Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida|Von Mayer-Rokitansky-Kuster Anomaly	Wnt4	MGI:98957	WNT4	Human only
611812	46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs;	Serkal|Serkal Syndrome	Wnt4	MGI:98957	WNT4	Human only
228930	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	Fuhrmann Syndrome	Wnt7a	MGI:98961	WNT7A	Human only
276820	Ulna and Fibula, Absence of, with Severe Limb Deficiency	Al-Awadi/Raas-Rothschild Syndrome; AARRS|Limb/Pelvis-Hypoplasia/Aplasia Syndrome; LPHAS|Schinzel Phocomelia Syndrome	Wnt7a	MGI:98961	WNT7A	Human only
600193	Waardenburg Syndrome, Type 2B; WS2B	Waardenburg Syndrome, Type IIB			WS2B	Human only
606662	Waardenburg Syndrome, Type 2c; WS2C	Waardenburg Syndrome, Type IIC			WS2C	Human only
311510	Parkinsonism, Early-Onset, with Mental Retardation	Basal Ganglion Disorder with Mental Retardation; BGMR|Waisman Syndrome; WSN			WSN	Human only
136680	Frasier Syndrome		Wt1	MGI:98968	WT1	Human only
194070	Wilms Tumor 1; WT1	Nephroblastoma	Wt1	MGI:98968	WT1	Human only
194072	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome; WAGR	Chromosome 11p13 Deletion Syndrome|Wagr Syndrome	Wt1	MGI:98968	WT1	Human only
256370	Nephrotic Syndrome, Type 4; NPHS4		Wt1	MGI:98968	WT1	Human only
608978	Meacham Syndrome		Wt1	MGI:98968	WT1	Human only
194071	Wilms Tumor 2; WT2				WT2	Human only
202300	Adrenocortical Carcinoma, Hereditary; ADCC				WT2	Human only
194090	Wilms Tumor 3; WT3				WT3	Human only
601363	Wilms Tumor 4	Familial Wilms Tumor 1; FWT1|WT4			WT4	Human only
300421	Wittwer Syndrome	WTRS			WTRS	Human only
309585	Wilson-Turner X-Linked Mental Retardation Syndrome; WTS	Mental Retardation, X-Linked, Syndromic 6; MRXS6|Mental Retardation, X-Linked, with Gynecomastia and Obesity			WTS	Human only
133239	Esophageal Cancer		Wwox	MGI:1931237	WWOX	Human only
314580	Wieacker Syndrome	Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy|Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia|Wieacker-Wolff Syndrome			WWS	Human only
125480	Major Affective Disorder 1; MAFD1	Bipolar Affective Disorder; BPAD|Manic-Depressive Psychosis, Autosomal|Manic-Depressive Psychosis; MD1	Xbp1	MGI:98970	XBP1	Human only
612371	Major Affective Disorder 7; MAFD7	Bipolar Affective Disorder	Xbp1	MGI:98970	XBP1	Human only
278300	Xanthinuria, Type I	Xanthine Dehydrogenase Deficiency|Xanthine Oxidase Deficiency|XDH Deficiency	Xdh	MGI:98973	XDH	Human only
300779	Corneal Dystrophy, Endothelial, X-Linked; XECD	Endothelial Corneal Dystrophy, X-Linked			XECD	Human only
300635	Lymphoproliferative Syndrome, X-Linked, 2; XLP2	Xiap Deficiency	Xiap	MGI:107572	XIAP	Human only
300145	X-Prolyl Aminopeptidase 2; XPNPEP2	X-Prolyl Aminopeptidase, Membrane-Bound	Xpnpep2	MGI:2180001	XPNPEP2	Human only
613159	Nephronophthisis-Like Nephropathy 1; NPHPL1		Xpnpep3	MGI:2445217	XPNPEP3	Human only
309050	Lutheran Suppressor, X-Linked; XS	LUXS			XS	Human only
264800	Pseudoxanthoma Elasticum; PXE	Gronblad-Strandberg Syndrome	Xylt1	MGI:2451073	XYLT1	Human only
608124	Xylosyltransferase 1; XYLT1	Xt1	Xylt1	MGI:2451073	XYLT1	Human only
264800	Pseudoxanthoma Elasticum; PXE	Gronblad-Strandberg Syndrome	Xylt2	MGI:2444797	XYLT2	Human only
608125	Xylosyltransferase 2; XYLT2	Xt2	Xylt2	MGI:2444797	XYLT2	Human only
608323	Charcot-Marie-Tooth Disease, Dominant Intermediate C; CMTDIC	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C|DI-CMTC	Yars	MGI:2147627	YARS	Human only
613561	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2; MLASA2		Yars2	MGI:1917370	YARS2	Human only
176947	Zeta-Chain-Associated Protein Kinase; ZAP70	Protein Tyrosine Kinase ZAP70|Syk-Related Tyrosine Kinase; SRK	Zap70	MGI:99613	ZAP70	Human only
612447	Skeletal Defects, Genital Hypoplasia, and Mental Retardation		Zbtb16	MGI:103222	ZBTB16	Human only
609815	Zygodactyly 1	Zd1			ZD1	Human only
300577	Mental Retardation, X-Linked 91; MRX91		Zdhhc15	MGI:1915336	ZDHHC15	Human only
300799	Mental Retardation, X-Linked, Syndromic, Raymond Type; MRXSR		Zdhhc9	MGI:2444393	ZDHHC9	Human only
613270	Corneal Dystrophy, Fuchs Endothelial, 6; FECD6	Corneal Dystrophy, Fuchs Endothelial, Late-Onset	Zeb1	MGI:1344313	ZEB1	Human only
608175	Autoimmune Thyroid Disease, Susceptibility to, 3; AITD3		Zfat	MGI:2681865	ZFAT	Human only
176807	Prostate Cancer		Zfhx3	MGI:99948	ZFHX3	Human only
601410	Diabetes Mellitus, Transient Neonatal, 1	DMTN|TNDM|Tndm1	Zfp57	MGI:99204	ZFP57	Human only
610187	Diaphragmatic Hernia 3	Dih3	Zfpm2	MGI:1334444	ZFPM2	Human only
270700	Spastic Paraplegia 15, Autosomal Recessive; SPG15	Kjellin Syndrome|Spastic Paraplegia and Retinal Degeneration	Zfyve26	MGI:1924767	ZFYVE26	Human only
610244	Spastic Paraplegia 33, Autosomal Dominant; SPG33		Zfyve27	MGI:1919602	ZFYVE27	Human only
135500	Zimmermann-Laband Syndrome; ZLS	Fibromatosis, Gingival, with Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly|Laband Syndrome			ZLS	Human only
275210	Restrictive Dermopathy, Lethal	Fetal Hypokinesia Sequence Due to Restrictive Dermopathy|Hyperkeratosis-Contracture Syndrome|Tight Skin Contracture Syndrome, Lethal	Zmpste24	MGI:1890508	ZMPSTE24	Human only
608612	Mandibuloacral Dysplasia with Type B Lipodystrophy; MADB	Lipodystrophy, Type B, Associated with Mandibuloacral Dysplasia	Zmpste24	MGI:1890508	ZMPSTE24	Human only
605990	Nephrolithiasis, Uric Acid, Susceptibility to	UAN|Urolithiasis, Uric Acid, Susceptibility to	Zfp365	MGI:2143676	ZNF365	Human only
229200	Brittle Cornea Syndrome 1; BCS1	Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility|Dysgenesis Mesodermalis Corneae Et Sclerae|Ehlers-Danlos Syndrome, Type Vib, Formerly; EDS6B, FORMERLY|Fragilitas Oculi with Joint Hyperextensibility	Gm22	MGI:2684868	ZNF469	Human only
613617	Retinitis Pigmentosa 58; RP58		Zfp513	MGI:2141255	ZNF513	Human only
606937	Spinocerebellar Ataxia, Autosomal Recessive 5; SCAR5	Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities; CAMOS	Zfp592	MGI:2443541	ZNF592	Human only
610227	Seborrhea-Like Dermatitis with Psoriasiform Elements		Zfp750	MGI:2442210	ZNF750	Human only
300498	Mental Retardation, X-Linked 45; MRX45		Zfp719	MGI:2444708	ZNF81	Human only
