Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     46 XY gonadal dysgenesis DHH* Dhh* 1 model HomoloGene and HGNC
acheiropody LMBR1* Lmbr1* 1 model HomoloGene and HGNC
achondrogenesis type IA TRIP11* Trip11* 3 models HomoloGene and HGNC
achondrogenesis type II COL2A1* Col2a1* 1 model HomoloGene and HGNC
achondroplasia FGFR3* Fgfr3* 7 models HomoloGene and HGNC
achromatopsia 2 CNGA3* Cnga3* 3 models HomoloGene and HGNC
achromatopsia 3 CNGB3* Cngb3* 1 model HomoloGene and HGNC
achromatopsia 4 GNAT2* Gnat2* 2 models HomoloGene and HGNC
acrocephalosyndactylia FGFR2* Fgfr2* 6 models HomoloGene and HGNC
acromesomelic dysplasia, Grebe type GDF5* Gdf5* 2 models HomoloGene and HGNC
acromesomelic dysplasia, Hunter-Thompson type GDF5* Gdf5* 1 model HomoloGene and HGNC
acromesomelic dysplasia, Maroteaux type NPR2* Npr2* 2 models HomoloGene and HGNC
acute myeloid leukemia FLT3* Flt3* 4 models HomoloGene and HGNC
acute myeloid leukemia CEBPA* Cebpa* 1 model HomoloGene and HGNC
adenosine deaminase deficiency ADA* Ada* 1 model HomoloGene and HGNC
adrenocorticotropic hormone deficiency TBX19* Tbx19* 1 model HomoloGene and HGNC
adrenoleukodystrophy ABCD1* Abcd1* 9 models HomoloGene and HGNC
adult-onset autosomal dominant demyelinating leukodystrophy LMNB1* Lmnb1* 3 models HomoloGene and HGNC
agenesis of the corpus callosum with peripheral neuropathy SLC12A6* Slc12a6* 3 models HomoloGene and HGNC
age related macular degeneration 12 CX3CR1* Cx3cr1* 2 models HomoloGene and HGNC
age related macular degeneration 4 CFH* Cfh* 1 model HomoloGene and HGNC
Alagille syndrome JAG1* Jag1* 5 models HomoloGene and HGNC
Alexander disease GFAP* Gfap* 7 models HomoloGene and HGNC
alopecia universalis HR* Hr* 3 models HomoloGene and HGNC
alpha-2-plasmin inhibitor deficiency SERPINF2* Serpinf2* 1 model HomoloGene and HGNC
alternating hemiplegia of childhood ATP1A3* Atp1a3* 4 models HomoloGene and HGNC
alveolar rhabdomyosarcoma PAX3* Pax3* 4 models HomoloGene and HGNC
Alzheimer's disease 3 PSEN1* Psen1* 15 models HomoloGene and HGNC
amelogenesis imperfecta hypomaturation type 2A2 MMP20* Mmp20* 1 model HomoloGene and HGNC
amelogenesis imperfecta hypomaturation type 2A3 WDR72* Wdr72* 1 model HomoloGene and HGNC
amelogenesis imperfecta type 1B ENAM* Enam* 6 models HomoloGene and HGNC
amelogenesis imperfecta type 1E AMELX* Amelx* 6 models HGNC
amyotrophic lateral sclerosis type 1 SOD1* Sod1* 38 models HomoloGene and HGNC
amyotrophic lateral sclerosis type 10 TARDBP* Tardbp* 19 models HomoloGene and HGNC
amyotrophic lateral sclerosis type 6 FUS* Fus* 5 models HGNC
androgen insensitivity syndrome AR* Ar* 8 models HomoloGene and HGNC
aniridia PAX6* Pax6* 2 models HomoloGene and HGNC
anterior segment mesenchymal dysgenesis PITX3* Pitx3* 1 model HomoloGene and HGNC
antithrombin III deficiency SERPINC1* Serpinc1* 1 model HomoloGene and HGNC
aplastic anemia IFNG* Ifng* 1 model HomoloGene and HGNC
aromatase excess syndrome CYP19A1* Cyp19a1* 1 model HomoloGene and HGNC
arrhythmogenic right ventricular dysplasia 12 JUP* Jup* 4 models HomoloGene and HGNC
arrhythmogenic right ventricular dysplasia 2 RYR2* Ryr2* 1 model HomoloGene and HGNC
arrhythmogenic right ventricular dysplasia 8 DSP* Dsp* 1 model HomoloGene and HGNC
arterial calcification of infancy ENPP1* Enpp1* 2 models HomoloGene and HGNC
ataxia telangiectasia ATM* Atm* 8 models HomoloGene and HGNC
atrial heart septal defect 2 GATA4* Gata4* 1 model HomoloGene and HGNC
atrial heart septal defect 7 NKX2-5* Nkx2-5* 2 models HomoloGene and HGNC
atrichia with papular lesions HR* Hr* 2 models HomoloGene and HGNC
atypical teratoid rhabdoid tumor SMARCB1* Smarcb1* 3 models HomoloGene and HGNC
autoimmune lymphoproliferative syndrome FAS* Fas* 3 models HomoloGene and HGNC
autoimmune lymphoproliferative syndrome FASLG* Fasl* 1 model HomoloGene and HGNC
autoimmune lymphoproliferative syndrome type 2B CASP8* Casp8* 1 model HomoloGene and HGNC
autoimmune polyendocrine syndrome type 1 AIRE* Aire* 9 models HomoloGene and HGNC
autosomal dominant auditory neuropathy 1 DIAPH3* Diaph3* 2 models HomoloGene and HGNC
autosomal dominant hypophosphatemic rickets FGF23* Fgf23* 3 models HomoloGene and HGNC
autosomal dominant nocturnal frontal lobe epilepsy 3 CHRNB2* Chrnb2* 2 models HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 12 TECTA* Tecta* 4 models HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 13 COL11A2* Col11a2* 1 model HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 22 MYO6* Myo6* 1 model HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 25 SLC17A8* Slc17a8* 1 model HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 36 TMC1* Tmc1* 3 models HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 9 COCH* Coch* 1 model HomoloGene and HGNC
autosomal dominant osteopetrosis 2 CLCN7* Clcn7* 5 models HomoloGene and HGNC
autosomal dominant Parkinson's disease 1 SNCA* Snca* 23 models HomoloGene and HGNC
autosomal dominant Parkinson's disease 4 SNCA* Snca* 1 model HomoloGene and HGNC
autosomal dominant Parkinson's disease 8 LRRK2* Lrrk2* 5 models HomoloGene and HGNC
autosomal dominant pseudohypoaldosteronism type 1 NR3C2* Nr3c2* 1 model HomoloGene and HGNC
autosomal dominant type IV Ehlers-Danlos syndrome COL3A1* Col3a1* 2 models HomoloGene and HGNC
autosomal recessive congenital ichthyosis 1 TGM1* Tgm1* 1 model HomoloGene and HGNC
autosomal recessive congenital ichthyosis 4B ABCA12* Abca12* 4 models HomoloGene and HGNC
autosomal recessive distal spinal muscular atrophy 1 IGHMBP2* Ighmbp2* 1 model HomoloGene and HGNC
autosomal recessive early-onset Parkinson's disease 6 PINK1* Pink1* 4 models HomoloGene and HGNC
autosomal recessive early-onset Parkinson's disease 7 PARK7* Park7* 4 models HomoloGene and HGNC
autosomal recessive hypophosphatemic rickets DMP1* Dmp1* 1 model HomoloGene and HGNC
autosomal recessive isolated ectopia lentis 2 ADAMTSL4* Adamtsl4* 1 model HomoloGene and HGNC
autosomal recessive juvenile Parkinson's disease 2 PRKN* Prkn* 10 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3* Capn3* 3 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2B DYSF* Dysf* 4 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2C SGCG* Sgcg* 2 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2D SGCA* Sgca* 2 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2E SGCB* Sgcb* 2 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2F SGCD* Sgcd* 2 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2G TCAP* Tcap* 1 model HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2H TRIM32* Trim32* 2 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2I FKRP* Fkrp* 3 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2J TTN* Ttn* 3 models HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2L ANO5* Ano5* 1 model HomoloGene and HGNC
autosomal recessive limb-girdle muscular dystrophy type 2P DAG1* Dag1* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 12 CDH23* Cdh23* 3 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 16 STRC* Strc* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 18A USH1C* Ush1c* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 18B OTOG* Otog* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 1A GJB6* Gjb6* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 1A GJB2* Gjb2* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 2 MYO7A* Myo7a* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 22 OTOA* Otoa* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 23 PCDH15* Pcdh15* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 29 CLDN14* Cldn14* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 3 MYO15A* Myo15* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 30 MYO3A* Myo3a* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 31 WHRN* Whrn* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 37 MYO6* Myo6* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 42 ILDR1* Ildr1* 3 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 48 CIB2* Cib2* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 49 MARVELD2* Marveld2* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 59 PJVK* Pjvk* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 63 LRTOMT* Tomt*, Lrrc51 1 model HGNC
autosomal recessive nonsyndromic deafness 68 S1PR2* S1pr2* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 7 TMC1* Tmc1* 6 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 74 MSRB3* Msrb3* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 79 TPRN* Tprn* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 9 OTOF* Otof* 2 models HomoloGene and HGNC
autosomal recessive nonsyndromic deafness 93 CABP2* Cabp2* 1 model HomoloGene and HGNC
autosomal recessive osteopetrosis 1 TCIRG1* Tcirg1* 2 models HomoloGene and HGNC
autosomal recessive osteopetrosis 2 TNFSF11* Tnfsf11* 3 models HomoloGene and HGNC
autosomal recessive osteopetrosis 3 CA2* Car2* 1 model HomoloGene and HGNC
autosomal recessive osteopetrosis 4 CLCN7* Clcn7* 2 models HomoloGene and HGNC
autosomal recessive osteopetrosis 5 OSTM1* Ostm1* 1 model HomoloGene and HGNC
autosomal recessive osteopetrosis 6 PLEKHM1* Plekhm1* 2 models HomoloGene and HGNC
autosomal recessive pseudohypoaldosteronism type 1 SCNN1G* Scnn1g* 1 model HomoloGene and HGNC
autosomal recessive pseudohypoaldosteronism type 1 SCNN1B* Scnn1b* 1 model HomoloGene and HGNC
autosomal recessive spinocerebellar ataxia 13 GRM1* Grm1* 1 model HomoloGene and HGNC
autosomal recessive spinocerebellar ataxia 16 STUB1* Stub1* 1 model HomoloGene and HGNC
autosomal recessive spinocerebellar ataxia 18 GRID2* Grid2* 2 models HomoloGene and HGNC
Axenfeld-Rieger syndrome type 1 PITX2* Pitx2* 8 models HomoloGene and HGNC
Bamforth-Lazarus syndrome FOXE1* Foxe1* 1 model HomoloGene and HGNC
Bartter disease type 1 SLC12A1* Slc12a1* 2 models HomoloGene and HGNC
Bartter disease type 2 KCNJ1* Kcnj1* 1 model HomoloGene and HGNC
Bartter disease type 3 CLCNKB*, CLCNKA Clcnkb*, Clcnka 1 model HGNC
Bartter disease type 4a BSND* Bsnd* 2 models HomoloGene and HGNC
basal cell carcinoma PTCH1* Ptch1* 2 models HomoloGene and HGNC
basal ganglia calcification PDGFRB* Pdgfrb* 1 model HomoloGene and HGNC
basal ganglia calcification SLC20A2* Slc20a2* 1 model HomoloGene and HGNC
Becker muscular dystrophy DMD* Dmd* 1 model HomoloGene and HGNC
benign neonatal seizures KCNQ2* Kcnq2* 5 models HomoloGene and HGNC
benign neonatal seizures KCNQ3* Kcnq3* 5 models HomoloGene and HGNC
Bernard-Soulier syndrome GP1BB* Gp1bb* 4 models HomoloGene and HGNC
Bernard-Soulier syndrome GP1BA* Gp1ba* 1 model HomoloGene and HGNC
bestrophinopathy BEST1* Best1* 2 models HomoloGene and HGNC
Bethlem myopathy COL6A1* Col6a1* 1 model HomoloGene and HGNC
Bietti crystalline corneoretinal dystrophy CYP4V2* Cyp4v3* 1 model HomoloGene and HGNC
biotin-responsive basal ganglia disease SLC19A3* Slc19a3* 2 models HomoloGene and HGNC
Bloch-Sulzberger syndrome IKBKG* Ikbkg* 2 models HomoloGene and HGNC
Bothnia retinal dystrophy RLBP1* Rlbp1* 1 model HomoloGene and HGNC
brachydactyly type A1 IHH* Ihh* 1 model HomoloGene and HGNC
brachydactyly type A1C GDF5* Gdf5* 1 model HomoloGene and HGNC
brachydactyly type A2 GDF5* Gdf5* 1 model HomoloGene and HGNC
brachydactyly type C GDF5* Gdf5* 1 model HomoloGene and HGNC
breast cancer ESR1* Esr1* 1 model HomoloGene and HGNC
breast cancer PIK3CA* Pik3ca* 5 models HomoloGene and HGNC
breast cancer TP53* Trp53* 14 models HomoloGene and HGNC
breast cancer BARD1* Bard1* 3 models HomoloGene and HGNC
breast cancer BRCA1* Brca1* 11 models HomoloGene and HGNC
breast cancer BRCA2* Brca2* 6 models HomoloGene and HGNC
Brugada syndrome 1 SCN5A* Scn5a* 2 models HomoloGene and HGNC
Brugada syndrome 7 SCN3B* Scn3b* 1 model HomoloGene and HGNC
Bruton-type agammaglobulinemia BTK* Btk* 8 models HomoloGene and HGNC
bullous congenital ichthyosiform erythroderma KRT2* Krt2* 2 models HGNC
buphthalmos CYP1B1* Cyp1b1* 4 models HomoloGene and HGNC
Burkitt lymphoma MYC* Myc* 5 models HomoloGene and HGNC
CADASIL 1 NOTCH3* Notch3* 8 models HomoloGene and HGNC
campomelic dysplasia SOX9* Sox9* 8 models HomoloGene and HGNC
Canavan disease ASPA* Aspa* 4 models HomoloGene and HGNC
Carpenter syndrome MEGF8* Megf8* 2 models HomoloGene and HGNC
cataract 10 multiple types CRYBA1* Cryba1* 2 models HomoloGene and HGNC
cataract 14 multiple types GJA3* Gja3* 2 models HomoloGene and HGNC
cataract 15 multiple types MIP* Mip* 7 models HomoloGene and HGNC
cataract 16 multiple types CRYAB* Cryab* 1 model HomoloGene and HGNC
cataract 19 multiple types LIM2* Lim2* 4 models HomoloGene and HGNC
cataract 1 multiple types GJA8* Gja8* 4 models HomoloGene and HGNC
cataract 20 multiple types CRYGS* Crygs* 3 models HomoloGene and HGNC
cataract 21 multiple types MAF* Maf* 1 model HomoloGene and HGNC
cataract 2 multiple types CRYGC* Crygc* 3 models HomoloGene and HGNC
cataract 30 VIM* Vim* 1 model HomoloGene and HGNC
cataract 39 multiple types CRYGB* Crygb* 6 models HomoloGene and HGNC
cataract 3 multiple types CRYBB2* Crybb2* 3 models HomoloGene and HGNC
cataract 4 multiple types CRYGD* Crygd* 2 models HomoloGene and HGNC
cataract 5 multiple types HSF4* Hsf4* 2 models HomoloGene and HGNC
cataract 6 multiple types EPHA2* Epha2* 1 model HomoloGene and HGNC
cataract 9 multiple types CRYAA* Cryaa* 9 models HGNC
catecholaminergic polymorphic ventricular tachycardia 1 RYR2* Ryr2* 9 models HomoloGene and HGNC
catecholaminergic polymorphic ventricular tachycardia 2 CASQ2* Casq2* 4 models HomoloGene and HGNC
Cayman type cerebellar ataxia ATCAY* Atcay* 3 models HomoloGene and HGNC
central core myopathy RYR1* Ryr1* 3 models HomoloGene and HGNC
centronuclear myopathy DNM2* Dnm2* 1 model HomoloGene and HGNC
centronuclear myopathy MTM1* Mtm1* 1 model HomoloGene and HGNC
cerebellar ataxia, mental retardation and dysequlibrium syndrome ATP8A2* Atp8a2* 4 models HomoloGene and HGNC
cerebellar ataxia, mental retardation and dysequlibrium syndrome CA8* Car8* 1 model HomoloGene and HGNC
cerebral cavernous malformation 2 CCM2* Ccm2* 3 models HomoloGene and HGNC
Charcot-Marie-Tooth disease axonal type 2K GDAP1* Gdap1* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease axonal type 2O DYNC1H1* Dync1h1* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease axonal type 2P LRSAM1* Lrsam1* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease recessive intermediate D COX6A1* Cox6a1* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 1A PMP22* Pmp22* 9 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 1B MPZ* Mpz* 4 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 1E PMP22* Pmp22* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 2A1 KIF1B* Kif1b* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 2A2 MFN2* Mfn2* 5 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 2B1 LMNA* Lmna* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 2D GARS* Gars* 3 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 2E NEFL* Nefl* 3 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 3 PMP22* Pmp22* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 3 MPZ* Mpz* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4B1 MTMR2* Mtmr2* 2 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4B2 SBF2* Sbf2* 2 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4C SH3TC2* Sh3tc2* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4D NDRG1* Ndrg1* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4E EGR2* Egr2* 2 models HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4H FGD4* Fgd4* 1 model HomoloGene and HGNC
Charcot-Marie-Tooth disease type 4J FIG4* Fig4* 2 models HomoloGene and HGNC
Charcot-Marie-Tooth disease X-linked dominant 1 GJB1* Gjb1* 4 models HomoloGene and HGNC
Charlevoix-Saguenay spastic ataxia SACS* Sacs* 1 model HGNC
Char syndrome TFAP2B* Tfap2b* 1 model HomoloGene and HGNC
cholecystitis ABCB4* Abcb4* 1 model HomoloGene and HGNC
choreaacanthocytosis VPS13A* Vps13a* 1 model HomoloGene and HGNC
choroideremia CHM* Chm* 4 models HomoloGene and HGNC
CINCA Syndrome NLRP3* Nlrp3* 1 model HomoloGene and HGNC
cleidocranial dysplasia RUNX2* Runx2* 4 models HomoloGene and HGNC
clubfoot PITX1* Pitx1* 1 model HomoloGene and HGNC
COL4A1-related familial vascular leukoencephalopathy COL4A1* Col4a1* 1 model HomoloGene and HGNC
colorectal cancer APC* Apc* 10 models HomoloGene and HGNC
common variable immunodeficiency ICOS* Icos* 2 models HomoloGene and HGNC
common variable immunodeficiency NFKB2* Nfkb2* 3 models HomoloGene and HGNC
complement component 3 deficiency C3* C3* 3 models HomoloGene and HGNC
complex cortical dysplasia with other brain malformations 7 TUBB2B* Tubb2b* 1 model HomoloGene and HGNC
Compton-North congenital myopathy CNTN1* Cntn1* 3 models HomoloGene and HGNC
cone-rod dystrophy 16 C8orf37* 2610301B20Rik* 1 model HomoloGene and HGNC
cone-rod dystrophy 3 ABCA4* Abca4* 2 models HomoloGene and HGNC
cone-rod dystrophy 6 GUCY2D* Gucy2e* 3 models HomoloGene and HGNC
cone-rod dystrophy 9 ADAM9* Adam9* 1 model HomoloGene and HGNC
congenital afibrinogenemia FGG* Fgg* 1 model HomoloGene and HGNC
congenital amegakaryocytic thrombocytopenia MPL* Mpl* 1 model HomoloGene and HGNC
congenital aphakia FOXE3* Foxe3* 1 model HGNC
congenital central hypoventilation syndrome PHOX2B* Phox2b* 1 model HomoloGene and HGNC
congenital diaphragmatic hernia ZFPM2* Zfpm2* 1 model HomoloGene and HGNC
congenital diarrhea 5 with tufting enteropathy EPCAM* Epcam* 1 model HomoloGene and HGNC
congenital fibrosis of the extraocular muscles TUBB3* Tubb3* 1 model HomoloGene and HGNC
congenital fibrosis of the extraocular muscles KIF21A* Kif21a* 3 models HomoloGene and HGNC
congenital generalized lipodystrophy type 1 AGPAT2* Agpat2* 1 model HomoloGene and HGNC
congenital generalized lipodystrophy type 2 BSCL2* Bscl2* 3 models HomoloGene and HGNC
congenital generalized lipodystrophy type 4 CAVIN1* Cavin1* 1 model HomoloGene and HGNC
congenital hereditary endothelial dystrophy of cornea SLC4A11* Slc4a11* 1 model HomoloGene and HGNC
congenital merosin-deficient muscular dystrophy 1A LAMA2* Lama2* 10 models HomoloGene and HGNC
congenital muscular dystrophy due to integrin alpha-7 deficiency ITGA7* Itga7* 1 model HomoloGene and HGNC
congenital muscular dystrophy due to LMNA mutation LMNA* Lmna* 1 model HomoloGene and HGNC
congenital myasthenic syndrome 10 DOK7* Dok7* 1 model HomoloGene and HGNC
congenital myasthenic syndrome 3A CHRND* Chrnd* 1 model HomoloGene and HGNC
congenital myasthenic syndrome 4A CHRNE* Chrne* 2 models HomoloGene and HGNC
congenital myasthenic syndrome 4C CHRNE* Chrne* 1 model HomoloGene and HGNC
congenital myasthenic syndrome 5 COLQ* Colq* 1 model HGNC
congenital myasthenic syndrome 6 CHAT* Chat* 2 models HomoloGene and HGNC
congenital myasthenic syndrome 8 AGRN* Agrn* 1 model HomoloGene and HGNC
congenital myasthenic syndrome 9 MUSK* Musk* 3 models HomoloGene and HGNC
congenital nonspherocytic hemolytic anemia GPI* Gpi1* 2 models HomoloGene and HGNC
congenital secretory chloride diarrhea 1 SLC26A3* Slc26a3* 1 model HomoloGene and HGNC
congenital stationary night blindness 1A NYX* Nyx* 1 model HomoloGene and HGNC
congenital stationary night blindness 1B GRM6* Grm6* 2 models HomoloGene and HGNC
congenital stationary night blindness 1D SLC24A1* Slc24a1* 1 model HomoloGene and HGNC
congenital stationary night blindness 1E GPR179* Gpr179* 1 model HomoloGene and HGNC
congenital stationary night blindness 1F LRIT3* Lrit3* 1 model HomoloGene and HGNC
congenital stationary night blindness 2A CACNA1F* Cacna1f* 11 models HomoloGene and HGNC
congenital stationary night blindness autosomal dominant 1 RHO* Rho* 1 model HomoloGene and HGNC
congenital stationary night blindness autosomal dominant 2 PDE6B* Pde6b* 14 models HomoloGene and HGNC
congenital stromal corneal dystrophy DCN* Dcn* 1 model HomoloGene and HGNC
cornea plana KERA* Kera* 1 model HomoloGene and HGNC
cortical dysplasia-focal epilepsy syndrome CNTNAP2* Cntnap2* 1 model HomoloGene
corticosteroid-binding globulin deficiency SERPINA6* Serpina6* 2 models HomoloGene and HGNC
cortisone reductase deficiency 2 HSD11B1* Hsd11b1* 1 model HomoloGene and HGNC
craniometaphyseal dysplasia ANKH* Ank* 1 model HomoloGene and HGNC
craniosynostosis MSX2* Msx2* 3 models HomoloGene and HGNC
Creutzfeldt-Jakob disease PRNP* Prnp* 8 models HomoloGene and HGNC
Crouzon syndrome FGFR2* Fgfr2* 4 models HomoloGene and HGNC
cutaneous porphyria UROS* Uros* 3 models HomoloGene and HGNC
cystinuria SLC7A9* Slc7a9* 2 models HomoloGene and HGNC
cystinuria SLC3A1* Slc3a1* 4 models HomoloGene and HGNC
Dent disease CLCN5* Clcn5* 2 models HomoloGene and HGNC
dentinogenesis imperfecta DSPP* Dspp* 1 model HGNC
diastrophic dysplasia SLC26A2* Slc26a2* 1 model HomoloGene and HGNC
dilated cardiomyopathy 1A LMNA* Lmna* 5 models HomoloGene and HGNC
dilated cardiomyopathy 1C LDB3* Ldb3* 3 models HomoloGene and HGNC
dilated cardiomyopathy 1D TNNT2* Tnnt2* 5 models HomoloGene and HGNC
dilated cardiomyopathy 1E SCN5A* Scn5a* 3 models HomoloGene and HGNC
dilated cardiomyopathy 1EE MYH6* Myh6* 2 models HomoloGene and HGNC
dilated cardiomyopathy 1G TTN* Ttn* 1 model HomoloGene and HGNC
dilated cardiomyopathy 1HH BAG3* Bag3* 2 models HomoloGene and HGNC
dilated cardiomyopathy 1I DES* Des* 1 model HomoloGene and HGNC
dilated cardiomyopathy 1L SGCD* Sgcd* 5 models HomoloGene and HGNC
dilated cardiomyopathy 1M CSRP3* Csrp3* 1 model HomoloGene and HGNC
dilated cardiomyopathy 1P PLN* Pln* 2 models HGNC
dilated cardiomyopathy 1R ACTC1* Actc1* 2 models HomoloGene and HGNC
dilated cardiomyopathy 1Y TPM1* Tpm1* 2 models HGNC
distal arthrogryposis ECEL1* Ecel1* 2 models HomoloGene and HGNC
distal arthrogryposis FBN2* Fbn2* 4 models HomoloGene and HGNC
distal muscular dystrophy DYSF* Dysf* 4 models HomoloGene and HGNC
DNA ligase IV deficiency LIG4* Lig4* 2 models HomoloGene and HGNC
Doyne honeycomb retinal dystrophy EFEMP1* Efemp1* 4 models HomoloGene and HGNC
Duchenne muscular dystrophy DMD* Dmd* 26 models HomoloGene and HGNC
early infantile epileptic encephalopathy ARX* Arx* 7 models HomoloGene and HGNC
early infantile epileptic encephalopathy CDKL5* Cdkl5* 2 models HomoloGene and HGNC
enhanced S-cone syndrome NR2E3* Nr2e3* 2 models HomoloGene and HGNC
epidermolysis bullosa simplex KRT14* Krt14* 2 models HomoloGene and HGNC
epidermolysis bullosa simplex Dowling-Meara type KRT14* Krt14* 3 models HomoloGene and HGNC
epidermolysis bullosa simplex Dowling-Meara type KRT5* Krt5* 1 model HomoloGene and HGNC
epidermolysis bullosa simplex Ogna type PLEC* Plec* 4 models HomoloGene and HGNC
epidermolytic hyperkeratosis KRT10* Krt10* 2 models HGNC
epidermolytic hyperkeratosis KRT1* Krt1* 1 model HomoloGene and HGNC
episodic ataxia type 1 KCNA1* Kcna1* 1 model HomoloGene and HGNC
episodic ataxia type 2 CACNA1A* Cacna1a* 3 models HomoloGene and HGNC
erythrokeratodermia variabilis GJB3* Gjb3* 1 model HomoloGene and HGNC
essential hypertension NOS3* Nos3* 3 models HomoloGene and HGNC
essential thrombocythemia JAK2* Jak2* 4 models HomoloGene and HGNC
exudative vitreoretinopathy TSPAN12* Tspan12* 1 model HomoloGene and HGNC
exudative vitreoretinopathy LRP5* Lrp5* 2 models HomoloGene and HGNC
exudative vitreoretinopathy NDP* Ndp* 1 model HomoloGene and HGNC
factor XIII deficiency F13A1* F13a1* 2 models HomoloGene and HGNC
familial cold autoinflammatory syndrome 1 NLRP3* Nlrp3* 2 models HomoloGene and HGNC
familial cold autoinflammatory syndrome 4 NLRC4* Nlrc4* 1 model HomoloGene and HGNC
familial encephalopathy with neuroserpin inclusion bodies SERPINI1* Serpini1* 3 models HomoloGene and HGNC
familial erythrocytosis 2 VHL* Vhl* 1 model HomoloGene and HGNC
familial hemiplegic migraine CACNA1A* Cacna1a* 5 models HomoloGene and HGNC
familial hemophagocytic lymphohistiocytosis 2 PRF1* Prf1* 1 model HomoloGene and HGNC
familial hemophagocytic lymphohistiocytosis 3 UNC13D* Unc13d* 1 model HomoloGene and HGNC
familial hemophagocytic lymphohistiocytosis 4 STX11* Stx11* 1 model HomoloGene and HGNC
familial juvenile hyperuricemic nephropathy UMOD* Umod* 2 models HomoloGene and HGNC
familial Mediterranean fever MEFV* Mefv* 4 models HomoloGene and HGNC
familial temporal lobe epilepsy 1 LGI1* Lgi1* 4 models HomoloGene and HGNC
Fanconi anemia complementation group A FANCA* Fanca* 3 models HomoloGene and HGNC
Fanconi anemia complementation group C FANCC* Fancc* 2 models HomoloGene and HGNC
Fanconi anemia complementation group D1 BRCA2* Brca2* 1 model HomoloGene and HGNC
Fanconi anemia complementation group D2 FANCD2* Fancd2* 5 models HomoloGene and HGNC
fatal familial insomnia PRNP* Prnp* 1 model HomoloGene and HGNC
fibrodysplasia ossificans progressiva ACVR1* Acvr1* 4 models HomoloGene and HGNC
focal segmental glomerulosclerosis 1 ACTN4* Actn4* 1 model HomoloGene and HGNC
focal segmental glomerulosclerosis 2 TRPC6* Trpc6* 3 models HomoloGene and HGNC
fragile X-associated tremor/ataxia syndrome FMR1* Fmr1* 4 models HomoloGene and HGNC
Friedreich ataxia FXN* Fxn* 6 models HomoloGene and HGNC
Fuchs' endothelial dystrophy COL8A2* Col8a2* 3 models HomoloGene and HGNC
Fuhrmann syndrome WNT7A* Wnt7a* 2 models HomoloGene and HGNC
Fukuyama congenital muscular dystrophy FKTN* Fktn* 6 models HomoloGene and HGNC
gastrointestinal stromal tumor KIT* Kit* 5 models HomoloGene and HGNC
generalized epilepsy with febrile seizures plus SCN1B* Scn1b* 1 model HomoloGene and HGNC
generalized epilepsy with febrile seizures plus SCN1A* Scn1a* 5 models HomoloGene and HGNC
Gerstmann-Straussler-Scheinker syndrome PRNP* Prnp* 7 models HomoloGene and HGNC
giant axonal neuropathy 1 GAN* Gan* 2 models HomoloGene and HGNC
Gitelman syndrome SLC12A3* Slc12a3* 1 model HomoloGene and HGNC
Glanzmann's thrombasthenia ITGB3* Itgb3* 1 model HomoloGene and HGNC
gray platelet syndrome NBEAL2* Nbeal2* 3 models HomoloGene and HGNC
Greig cephalopolysyndactyly syndrome GLI3* Gli3* 1 model HomoloGene and HGNC
gyrate atrophy OAT* Oat* 3 models HomoloGene and HGNC
hemolytic-uremic syndrome CFH* Cfh* 1 model HomoloGene and HGNC
hemophilia B F9* F9* 5 models HomoloGene and HGNC
hepatocellular carcinoma APC* Apc* 1 model HomoloGene and HGNC
hereditary elliptocytosis EPB41* Epb41* 1 model HomoloGene and HGNC
hereditary mucosal leukokeratosis KRT4* Krt4* 2 models HomoloGene and HGNC
hereditary multiple exostoses EXT2* Ext2* 1 model HomoloGene and HGNC
hereditary multiple exostoses EXT1* Ext1* 5 models HomoloGene and HGNC
hereditary neuropathy with liability to pressure palsies PMP22* Pmp22* 3 models HomoloGene and HGNC
hereditary sensory and autonomic neuropathy type 6 DST* Dst* 1 model HGNC
hereditary spastic paraplegia 11 SPG11* Spg11* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 13 HSPD1* Hspd1* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 15 ZFYVE26* Zfyve26* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 2 PLP1* Plp1* 2 models HomoloGene and HGNC
hereditary spastic paraplegia 30 KIF1A* Kif1a* 2 models HomoloGene and HGNC
hereditary spastic paraplegia 31 REEP1* Reep1* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 35 FA2H* Fa2h* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 4 SPAST* Spast* 2 models HomoloGene and HGNC
hereditary spastic paraplegia 54 DDHD2* Ddhd2* 1 model HomoloGene and HGNC
hereditary spastic paraplegia 7 SPG7* Spg7* 1 model HomoloGene and HGNC
hereditary spherocytosis type 1 ANK1* Ank1* 4 models HomoloGene and HGNC
hereditary spherocytosis type 3 SPTA1* Spta1* 5 models HomoloGene and HGNC
hereditary spherocytosis type 4 SLC4A1* Slc4a1* 1 model HomoloGene and HGNC
Hirschsprung's disease EDN3* Edn3* 2 models HomoloGene and HGNC
Hirschsprung's disease EDNRB* Ednrb* 5 models HomoloGene and HGNC
Hirschsprung's disease GDNF* Gdnf* 3 models HomoloGene and HGNC
Hirschsprung's disease RET* Ret* 4 models HomoloGene and HGNC
holoprosencephaly 11 CDON* Cdon* 8 models HomoloGene and HGNC
holoprosencephaly 2 SIX3* Six3* 4 models HomoloGene and HGNC
holoprosencephaly 3 SHH* Shh* 3 models HomoloGene and HGNC
holoprosencephaly 5 ZIC2* Zic2* 3 models HomoloGene and HGNC
Huntington's disease HTT* Htt* 52 models HomoloGene and HGNC
hyperekplexia 1 GLRA1* Glra1* 6 models HomoloGene and HGNC
hyperekplexia 2 GLRB* Glrb* 1 model HomoloGene and HGNC
hyperekplexia 3 SLC6A5* Slc6a5* 2 models HomoloGene and HGNC
hyperparathyroidism CDC73* Cdc73* 3 models HomoloGene and HGNC
hypertrophic cardiomyopathy 12 CSRP3* Csrp3* 1 model HomoloGene and HGNC
hypertrophic cardiomyopathy 14 MYH6* Myh6* 8 models HomoloGene and HGNC
hypertrophic cardiomyopathy 2 TNNT2* Tnnt2* 9 models HomoloGene and HGNC
hypertrophic cardiomyopathy 20 NEXN* Nexn* 1 model HomoloGene and HGNC
hypertrophic cardiomyopathy 3 TPM1* Tpm1* 2 models HGNC
hypertrophic cardiomyopathy 4 MYBPC3* Mybpc3* 9 models HomoloGene and HGNC
hypertrophic cardiomyopathy 7 TNNI3* Tnni3* 5 models HomoloGene and HGNC
hypogonadotropic hypogonadism 11 with or without anosmia TACR3* Tacr3* 1 model HomoloGene and HGNC
hypogonadotropic hypogonadism 13 with or without anosmia KISS1* Kiss1* 2 models HomoloGene and HGNC
hypogonadotropic hypogonadism 7 with or without anosmia GNRHR* Gnrhr* 1 model HomoloGene and HGNC
hypogonadotropic hypogonadism 8 with or without anosmia KISS1R* Kiss1r* 4 models HomoloGene and HGNC
hypohidrotic ectodermal dysplasia EDAR* Edar* 3 models HomoloGene and HGNC
hypohidrotic ectodermal dysplasia EDA* Eda* 3 models HGNC
hypomyelinating leukodystrophy 2 GJC2* Gjc2* 3 models HomoloGene and HGNC
hypoparathyroidism GCM2* Gcm2* 1 model HomoloGene and HGNC
hypopituitarism PROP1* Prop1* 2 models HomoloGene and HGNC
hypopituitarism LHX3* Lhx3* 1 model HomoloGene and HGNC
hypoplastic left heart syndrome NKX2-5* Nkx2-5* 2 models HomoloGene and HGNC
hypotrichosis 13 KRT71* Krt71* 1 model HomoloGene and HGNC
hypotrichosis 4 HR* Hr* 1 model HomoloGene and HGNC
idiopathic generalized epilepsy GABRA1* Gabra1* 3 models HomoloGene and HGNC
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome FOXP3* Foxp3* 2 models HomoloGene and HGNC
infantile myofibromatosis PDGFRB* Pdgfrb* 1 model HomoloGene and HGNC
inflammatory bowel disease 10 ATG16L1* Atg16l1* 2 models HomoloGene and HGNC
inflammatory bowel disease 13 ABCB1* Abcb1a* 1 model HomoloGene and HGNC
isolated anhidrosis with normal sweat glands ITPR2* Itpr2* 1 model HomoloGene and HGNC
isolated growth hormone deficiency type II GH1* Gh* 2 models HGNC
isolated microphthalmia 6 PRSS56* Prss56* 3 models HomoloGene and HGNC
Jervell-Lange Nielsen syndrome KCNQ1* Kcnq1* 3 models HomoloGene and HGNC
Jervell-Lange Nielsen syndrome KCNE1* Kcne1* 2 models HGNC
Job's syndrome STAT3* Stat3* 1 model HomoloGene and HGNC
Joubert syndrome 17 CPLANE1* Cplane1* 1 model HomoloGene and HGNC
Joubert syndrome 26 KIAA0556* D430042O09Rik* 1 model HomoloGene and HGNC
Joubert syndrome 3 AHI1* Ahi1* 1 model HomoloGene and HGNC
Joubert syndrome 5 CEP290* Cep290* 2 models HomoloGene and HGNC
Joubert syndrome 6 TMEM67* Tmem67* 1 model HomoloGene and HGNC
Joubert syndrome 7 RPGRIP1L* Rpgrip1l* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa Herlitz type LAMC2* Lamc2* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa Herlitz type LAMB3* Lamb3* 2 models HomoloGene and HGNC
junctional epidermolysis bullosa non-Herlitz type ITGB4* Itgb4* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa non-Herlitz type LAMB3* Lamb3* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa non-Herlitz type LAMA3* Lama3* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa non-Herlitz type LAMC2* Lamc2* 1 model HomoloGene and HGNC
junctional epidermolysis bullosa non-Herlitz type COL17A1* Col17a1* 1 model HGNC
junctional epidermolysis bullosa with pyloric atresia ITGB4* Itgb4* 1 model HomoloGene and HGNC
juvenile myelomonocytic leukemia PTPN11* Ptpn11* 1 model HomoloGene and HGNC
juvenile myelomonocytic leukemia NF1* Nf1* 2 models HomoloGene and HGNC
juvenile myoclonic epilepsy EFHC1* Efhc1* 2 models HomoloGene and HGNC
juvenile spinal muscular atrophy SMN1*, SMN2* Smn1* 2 models HomoloGene and HGNC
karyomegalic interstitial nephritis FAN1* Fan1* 2 models HomoloGene and HGNC
keratosis follicularis ATP2A2* Atp2a2* 1 model HomoloGene and HGNC
Kindler syndrome FERMT1* Fermt1* 1 model HomoloGene and HGNC
Kufor-Rakeb syndrome ATP13A2* Atp13a2* 1 model HomoloGene and HGNC
L-2-hydroxyglutaric aciduria L2HGDH* L2hgdh* 1 model HomoloGene and HGNC
Lafora disease NHLRC1* Nhlrc1* 2 models HomoloGene and HGNC
Lafora disease EPM2A* Epm2a* 1 model HomoloGene and HGNC
late-onset retinal degeneration C1QTNF5* C1qtnf5* 1 model HomoloGene and HGNC
Leber congenital amaurosis 10 CEP290* Cep290* 3 models HomoloGene and HGNC
Leber congenital amaurosis 12 RD3* Rd3* 1 model HomoloGene and HGNC
Leber congenital amaurosis 14 LRAT* Lrat* 1 model HomoloGene and HGNC
Leber congenital amaurosis 2 RPE65* Rpe65* 4 models HomoloGene and HGNC
Leber congenital amaurosis 3 SPATA7* Spata7* 1 model HomoloGene and HGNC
Leber congenital amaurosis 4 AIPL1* Aipl1* 5 models HomoloGene and HGNC
Leber congenital amaurosis 5 LCA5* Lca5* 1 model HomoloGene and HGNC
Leber congenital amaurosis 6 RPGRIP1* Rpgrip1* 3 models HomoloGene and HGNC
Leber congenital amaurosis 7 CRX* Crx* 2 models HomoloGene and HGNC
Leber congenital amaurosis 8 CRB1* Crb1* 3 models HomoloGene and HGNC
Leber congenital amaurosis 9 NMNAT1* Nmnat1* 1 model HomoloGene and HGNC
Leber hereditary optic neuropathy ND6* mt-Nd6* 1 model HomoloGene and HGNC
leukoencephalopathy with vanishing white matter EIF2B5* Eif2b5* 6 models HomoloGene and HGNC
leukoencephalopathy with vanishing white matter EIF2B4* Eif2b4* 4 models HomoloGene and HGNC
Liddle syndrome SCNN1B* Scnn1b* 1 model HomoloGene and HGNC
lissencephaly TUBA1A* Tuba1a* 1 model HomoloGene and HGNC
lissencephaly PAFAH1B1* Pafah1b1* 5 models HomoloGene and HGNC
lissencephaly DCX* Dcx* 1 model HomoloGene and HGNC
lissencephaly ARX* Arx* 2 models HomoloGene and HGNC
long QT syndrome 1 KCNQ1* Kcnq1* 3 models HomoloGene and HGNC
long QT syndrome 3 SCN5A* Scn5a* 3 models HomoloGene and HGNC
lung cancer KRAS* Kras* 20 models HomoloGene and HGNC
mal de Meleda SLURP1* Slurp1* 2 models HomoloGene and HGNC
malignant hyperthermia RYR1* Ryr1* 2 models HomoloGene and HGNC
Marfan syndrome FBN1* Fbn1* 8 models HomoloGene and HGNC
MASA syndrome L1CAM* L1cam* 1 model HomoloGene and HGNC
mastocytosis KIT* Kit* 5 models HomoloGene and HGNC
megaconial type congenital muscular dystrophy CHKB* Chkb* 1 model HomoloGene and HGNC
megalencephalic leukoencephalopathy with subcortical cysts 1 MLC1* Mlc1* 1 model HomoloGene and HGNC
Menkes disease ATP7A* Atp7a* 6 models HomoloGene and HGNC
MHC class II deficiency CIITA* Ciita* 2 models HomoloGene and HGNC
microcephalic osteodysplastic primordial dwarfism type II PCNT* Pcnt* 1 model HGNC
microphthalmia HCCS* Hccs* 3 models HomoloGene and HGNC
microvillus inclusion disease MYO5B* Myo5b* 2 models HomoloGene and HGNC
mitral valve prolapse DCHS1* Dchs1* 1 model HomoloGene and HGNC
Muenke Syndrome FGFR3* Fgfr3* 6 models HomoloGene and HGNC
multiple synostoses syndrome GDF5* Gdf5* 1 model HomoloGene and HGNC
multiple synostoses syndrome FGF9* Fgf9* 2 models HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy FKTN* Fktn* 3 models HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy LARGE1* Large1* 2 models HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy POMT1* Pomt1* 1 model HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy B4GAT1* B4gat1* 1 model HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy FKRP* Fkrp* 1 model HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy type B5 FKRP* Fkrp* 1 model HomoloGene and HGNC
muscular dystrophy-dystroglycanopathy type B6 LARGE1* Large1* 1 model HomoloGene and HGNC
myelodysplastic syndrome ASXL1* Asxl1* 4 models HomoloGene and HGNC
myelofibrosis JAK2* Jak2* 3 models HomoloGene and HGNC
MYH-9 related disease MYH9* Myh9* 4 models HomoloGene and HGNC
myoclonic dystonia 11 SGCE* Sgce* 2 models HomoloGene and HGNC
myofibrillar myopathy 1 DES* Des* 4 models HomoloGene and HGNC
myofibrillar myopathy 2 CRYAB* Cryab* 4 models HomoloGene and HGNC
myofibrillar myopathy 5 FLNC* Flnc* 1 model HomoloGene and HGNC
myopathy, lactic acidosis, and sideroblastic anemia PUS1* Pus1* 1 model HomoloGene and HGNC
myostatin-related muscle hypertrophy MSTN* Mstn* 2 models HomoloGene and HGNC
myotonia congenita CLCN1* Clcn1* 2 models HomoloGene and HGNC
myotonic dystrophy type 1 DMPK* Dmpk* 8 models HomoloGene and HGNC
nemaline myopathy 10 LMOD3* Lmod3* 2 models HomoloGene and HGNC
nemaline myopathy 2 NEB* Neb* 3 models HomoloGene and HGNC
nemaline myopathy 3 ACTA1* Acta1* 4 models HomoloGene and HGNC
nemaline myopathy 5 TNNT1* Tnnt1* 1 model HomoloGene and HGNC
nemaline myopathy 8 KLHL40* Klhl40* 1 model HomoloGene and HGNC
nephrogenic diabetes insipidus AQP2* Aqp2* 4 models HomoloGene and HGNC
nephrogenic diabetes insipidus AVPR2* Avpr2* 2 models HomoloGene and HGNC
neurodegeneration with brain iron accumulation 2a PLA2G6* Pla2g6* 4 models HomoloGene and HGNC
neurohypophyseal diabetes insipidus AVP* Avp* 2 models HomoloGene and HGNC
nonepidermolytic palmoplantar keratoderma KRT16* Krt16* 1 model HomoloGene and HGNC
nonpapillary renal cell carcinoma FLCN* Flcn* 1 model HomoloGene and HGNC
ocular albinism GPR143* Gpr143* 1 model HomoloGene and HGNC
ocular albinism with sensorineural deafness MITF* Mitf* 14 models HomoloGene and HGNC
oculopharyngeal muscular dystrophy PABPN1* Pabpn1* 3 models HomoloGene and HGNC
Oguchi disease-2 GRK1* Grk1* 1 model HomoloGene and HGNC
Omenn syndrome RAG2* Rag2* 1 model HomoloGene and HGNC
optic atrophy OPA1* Opa1* 3 models HomoloGene and HGNC
osteoarthritis GDF5* Gdf5* 1 model HomoloGene and HGNC
osteoarthritis MATN3* Matn3* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 1 COL1A1* Col1a1* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 10 SERPINH1* Serpinh1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 2 COL1A1* Col1a1* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 3 COL1A1* Col1a1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 3 COL1A2* Col1a2* 2 models HomoloGene and HGNC
osteogenesis imperfecta type 4 COL1A1* Col1a1* 3 models HomoloGene and HGNC
osteogenesis imperfecta type 6 SERPINF1* Serpinf1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 7 CRTAP* Crtap* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 8 P3H1* P3h1* 1 model HomoloGene and HGNC
osteogenesis imperfecta type 9 PPIB* Ppib* 2 models HomoloGene and HGNC
osteopathia striata with cranial sclerosis AMER1* Amer1* 2 models HomoloGene and HGNC
osteoporosis VDR* Vdr* 1 model HomoloGene and HGNC
osteosarcoma TP53* Trp53* 8 models HomoloGene and HGNC
otospondylomegaepiphyseal dysplasia COL11A2* Col11a2* 1 model HomoloGene and HGNC
ovarian cancer CTNNB1* Ctnnb1* 6 models HomoloGene and HGNC
Paget's disease of bone SQSTM1* Sqstm1* 2 models HomoloGene and HGNC
pancreatic carcinoma KRAS* Kras* 15 models HomoloGene and HGNC
Parkinson's disease NR4A2* Nr4a2* 1 model HomoloGene and HGNC
Parkinson's disease 17 VPS35* Vps35* 1 model HomoloGene and HGNC
paroxysmal nonkinesigenic dyskinesia 1 PNKD* Pnkd* 2 models HomoloGene and HGNC
patterned macular dystrophy 2 CTNNA1* Ctnna1* 2 models HomoloGene and HGNC
Pelizaeus-Merzbacher disease PLP1* Plp1* 7 models HomoloGene and HGNC
periventricular nodular heterotopia FLNA* Flna* 1 model HomoloGene and HGNC
persistent Mullerian duct syndrome AMHR2* Amhr2* 1 model HomoloGene and HGNC
Peters anomaly PAX6* Pax6* 5 models HomoloGene and HGNC
Peutz-Jeghers syndrome STK11* Stk11* 9 models HomoloGene and HGNC
Pfeiffer syndrome FGFR1* Fgfr1* 2 models HomoloGene and HGNC
Pfeiffer syndrome FGFR2* Fgfr2* 1 model HomoloGene and HGNC
pheochromocytoma RET* Ret* 1 model HomoloGene and HGNC
platelet-type bleeding disorder 10 CD36* Cd36* 1 model HomoloGene and HGNC
platelet-type bleeding disorder 16 ITGB3* Itgb3* 1 model HomoloGene and HGNC
platelet-type bleeding disorder 16 ITGA2B* Itga2b* 1 model HomoloGene and HGNC
platelet-type bleeding disorder 8 P2RY12* P2ry12* 2 models HomoloGene and HGNC
polycystic kidney disease 1 PKD1* Pkd1* 25 models HomoloGene and HGNC
polycystic kidney disease 2 PKD2* Pkd2* 7 models HomoloGene and HGNC
polycythemia vera JAK2* Jak2* 8 models HomoloGene and HGNC
pontocerebellar hypoplasia type 10 CLP1* Clp1* 1 model HomoloGene and HGNC
porencephaly COL4A1* Col4a1* 1 model HomoloGene and HGNC
primary hyperoxaluria HOGA1* Hoga1* 1 model HomoloGene and HGNC
primary hyperoxaluria GRHPR* Grhpr* 1 model HomoloGene and HGNC
primary pigmented nodular adrenocortical disease PRKAR1A* Prkar1a* 1 model HomoloGene and HGNC
primary pulmonary hypertension BMPR2* Bmpr2* 5 models HomoloGene and HGNC
primary pulmonary hypertension SMAD9* Smad9* 1 model HomoloGene and HGNC
progressive familial heart block type IA SCN5A* Scn5a* 2 models HomoloGene and HGNC
progressive myoclonus epilepsy SCARB2* Scarb2* 1 model HomoloGene and HGNC
progressive pseudorheumatoid arthropathy of childhood CCN6* Ccn6* 3 models HomoloGene and HGNC
prostate cancer MSMB* Msmb* 1 model HomoloGene and HGNC
prostate cancer PTEN* Pten* 17 models HomoloGene and HGNC
pseudoachondroplasia COMP* Comp* 3 models HomoloGene and HGNC
pseudoxanthoma elasticum ABCC6* Abcc6* 2 models HomoloGene and HGNC
pulmonary alveolar proteinosis ABCA3* Abca3* 3 models HomoloGene and HGNC
pulmonary alveolar proteinosis CSF2RB* Csf2rb*, Csf2rb2 2 models HomoloGene and HGNC
purine nucleoside phosphorylase deficiency PNP* Pnp*, Pnp2 5 models HomoloGene and HGNC
pyruvate kinase deficiency of red cells PKLR* Pklr* 2 models HomoloGene and HGNC
recessive dystrophic epidermolysis bullosa COL7A1* Col7a1* 4 models HomoloGene and HGNC
renal tubular acidosis ATP6V0A4* Atp6v0a4* 1 model HomoloGene and HGNC
restrictive cardiomyopathy TNNI3* Tnni3* 2 models HomoloGene and HGNC
retinitis pigmentosa C8orf37* 2610301B20Rik* 1 model HomoloGene and HGNC
retinitis pigmentosa PDE6G* Pde6g* 1 model HomoloGene and HGNC
retinitis pigmentosa 1 RP1* Rp1* 2 models HomoloGene and HGNC
retinitis pigmentosa 11 PRPF31* Prpf31* 1 model HomoloGene and HGNC
retinitis pigmentosa 12 CRB1* Crb1* 1 model HomoloGene and HGNC
retinitis pigmentosa 13 PRPF8* Prpf8* 2 models HomoloGene and HGNC
retinitis pigmentosa 14 TULP1* Tulp1* 1 model HomoloGene and HGNC
retinitis pigmentosa 18 PRPF3* Prpf3* 2 models HomoloGene and HGNC
retinitis pigmentosa 19 ABCA4* Abca4* 2 models HomoloGene and HGNC
retinitis pigmentosa 2 RP2* Rp2* 4 models HomoloGene and HGNC
retinitis pigmentosa 20 RPE65* Rpe65* 1 model HomoloGene and HGNC
retinitis pigmentosa 28 FAM161A* Fam161a* 1 model HomoloGene and HGNC
retinitis pigmentosa 3 RPGR* Rpgr* 4 models HomoloGene and HGNC
retinitis pigmentosa 30 FSCN2* Fscn2* 2 models HomoloGene and HGNC
retinitis pigmentosa 4 RHO* Rho* 13 models HomoloGene and HGNC
retinitis pigmentosa 40 PDE6B* Pde6b* 9 models HomoloGene and HGNC
retinitis pigmentosa 41 PROM1* Prom1* 2 models HomoloGene and HGNC
retinitis pigmentosa 54 PCARE* Pcare* 1 model HomoloGene and HGNC
retinitis pigmentosa 7 PRPH2* Prph2* 3 models HomoloGene and HGNC
rickets VDR* Vdr* 4 models HomoloGene and HGNC
rickets CYP27B1* Cyp27b1* 2 models HomoloGene and HGNC
rigid spine muscular dystrophy 1 SELENON* Selenon* 1 model HomoloGene and HGNC
Riley-Day syndrome ELP1* Elp1* 4 models HomoloGene and HGNC
Rothmund-Thomson syndrome RECQL4* Recql4* 3 models HomoloGene and HGNC
Saethre-Chotzen syndrome TWIST1* Twist1* 8 models HomoloGene and HGNC
scapuloperoneal myopathy FHL1* Fhl1* 1 model HomoloGene and HGNC
Schimke immuno-osseous dysplasia SMARCAL1* Smarcal1* 1 model HomoloGene and HGNC
Schmid metaphyseal chondrodysplasia COL10A1* Col10a1* 1 model HomoloGene and HGNC
schneckenbecken dysplasia SLC35D1* Slc35d1* 1 model HomoloGene and HGNC
sclerosteosis 1 SOST* Sost* 1 model HomoloGene and HGNC
sclerosteosis 2 LRP4* Lrp4* 1 model HomoloGene and HGNC
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive RAG2* Rag2* 1 model HomoloGene and HGNC
severe combined immunodeficiency with sensitivity to ionizing radiation DCLRE1C* Dclre1c* 2 models HomoloGene and HGNC
severe congenital neutropenia GFI1* Gfi1* 1 model HomoloGene and HGNC
short QT syndrome KCNH2* Kcnh2* 1 model HomoloGene and HGNC
Silverman-Handmaker type dyssegmental dysplasia HSPG2* Hspg2* 2 models HomoloGene and HGNC
sitosterolemia ABCG8* Abcg8* 1 model HomoloGene and HGNC
Smith-McCort dysplasia DYM* Dym* 1 model HomoloGene and HGNC
Sorsby's fundus dystrophy TIMP3* Timp3* 2 models HomoloGene and HGNC
SOST-related sclerosing bone dysplasia SOST* Sost* 3 models HomoloGene and HGNC
spinocerebellar ataxia type 1 ATXN1* Atxn1* 3 models HomoloGene and HGNC
spinocerebellar ataxia type 17 TBP* Tbp* 5 models HomoloGene and HGNC
spinocerebellar ataxia type 1 with axonal neuropathy TDP1* Tdp1* 2 models HomoloGene and HGNC
spinocerebellar ataxia type 2 ATXN2* Atxn2* 2 models HomoloGene and HGNC
spinocerebellar ataxia type 27 FGF14* Fgf14* 1 model HomoloGene and HGNC
spinocerebellar ataxia type 28 AFG3L2* Afg3l2* 1 model HomoloGene and HGNC
spinocerebellar ataxia type 5 SPTBN2* Sptbn2* 3 models HomoloGene and HGNC
spinocerebellar ataxia type 6 CACNA1A* Cacna1a* 2 models HomoloGene and HGNC
spinocerebellar ataxia type 7 ATXN7* Atxn7* 9 models HomoloGene and HGNC
spondylocarpotarsal synostosis syndrome FLNB* Flnb* 2 models HomoloGene and HGNC
spondylocostal dysostosis DLL3* Dll3* 1 model HomoloGene and HGNC
spondylocostal dysostosis TBX6* Tbx6* 1 model HomoloGene and HGNC
spondyloepimetaphyseal dysplasia, Pakistani type PAPSS2* Papss2* 1 model HomoloGene and HGNC
spondyloepiphyseal dysplasia congenita COL2A1* Col2a1* 8 models HomoloGene and HGNC
Stargardt disease ABCA4* Abca4* 5 models HomoloGene and HGNC
Stargardt disease ELOVL4* Elovl4* 5 models HomoloGene and HGNC
supravalvular aortic stenosis ELN* Eln* 2 models HGNC
synpolydactyly HOXD13* Hoxd13* 3 models HomoloGene and HGNC
systemic lupus erythematosus DNASE1* Dnase1* 1 model HomoloGene and HGNC
systemic lupus erythematosus FCGR2B* Fcgr2b* 2 models HomoloGene
systemic lupus erythematosus PDCD1* Pdcd1* 2 models HomoloGene and HGNC
T-cell immunodeficiency, congenital alopecia, and nail dystrophy FOXN1* Foxn1* 4 models HomoloGene and HGNC
tetralogy of Fallot NKX2-5* Nkx2-5* 2 models HomoloGene and HGNC
tetralogy of Fallot ZFPM2* Zfpm2* 1 model HomoloGene and HGNC
thanatophoric dysplasia FGFR3* Fgfr3* 4 models HomoloGene and HGNC
thrombocytopenia GATA1* Gata1* 1 model HomoloGene and HGNC
thrombophilia THBD* Thbd* 1 model HomoloGene and HGNC
thyroid hormone resistance syndrome THRB* Thrb* 11 models HomoloGene and HGNC
tibial muscular dystrophy TTN* Ttn* 1 model HomoloGene and HGNC
tooth agenesis PAX9* Pax9* 2 models HomoloGene and HGNC
tooth agenesis MSX1* Msx1* 3 models HomoloGene and HGNC
torsion dystonia 1 TOR1A* Tor1a* 7 models HomoloGene and HGNC
torsion dystonia 6 THAP1* Thap1* 2 models HomoloGene and HGNC
Troyer syndrome SPART* Spg20* 1 model HGNC
type I Ehlers-Danlos syndrome COL5A1* Col5a1* 2 models HomoloGene and HGNC
Ullrich congenital muscular dystrophy COL6A3* Col6a3* 1 model HomoloGene and HGNC
Unverricht-Lundborg syndrome CSTB* Cstb* 1 model HomoloGene and HGNC
vitelliform macular dystrophy BEST1* Best1* 2 models HomoloGene and HGNC
Walker-Warburg syndrome POMGNT1* Pomgnt1* 2 models HomoloGene and HGNC
Werdnig-Hoffmann disease SMN1*, SMN2 Smn1* 17 models HomoloGene and HGNC
WHIM syndrome CXCR4* Cxcr4* 1 model HomoloGene and HGNC
Wilson disease ATP7B* Atp7b* 3 models HomoloGene and HGNC
X-linked adrenal hypoplasia congenita NR0B1* Nr0b1* 1 model HomoloGene and HGNC
X-linked cone-rod dystrophy 1 RPGR* Rpgr* 2 models HomoloGene and HGNC
X-linked hypophosphatemic rickets PHEX* Phex* 19 models HomoloGene and HGNC
X-linked juvenile retinoschisis 1 RS1* Rs1* 4 models HomoloGene and HGNC
X-linked lymphoproliferative syndrome 1 SH2D1A* Sh2d1a* 7 models HomoloGene and HGNC
     46 XX gonadal dysgenesis FANCL Fancl* 1 model HomoloGene and HGNC
achalasia LMNA Lmna* 2 models HomoloGene and HGNC
achalasia SPRY2 Spry2* 1 model HomoloGene and HGNC
achalasia NOS1 Nos1* 1 model HomoloGene and HGNC
achondroplasia SPRED2 Spred2* 1 model HomoloGene and HGNC
achondroplasia PTHLH Pthlh* 1 model HomoloGene and HGNC
achondroplasia NPR2 Npr2* 3 models HomoloGene and HGNC
achondroplasia ACAN Acan* 1 model HGNC
achromatopsia PDE6C Pde6c* 2 models HomoloGene and HGNC
acute lymphocytic leukemia PTEN Pten* 1 model HomoloGene and HGNC
acute lymphocytic leukemia KMT2A Kmt2a* 1 model HomoloGene and HGNC
acute lymphocytic leukemia LMO2 Lmo2* 1 model HomoloGene and HGNC
acute lymphocytic leukemia NOTCH3 Notch3* 1 model HomoloGene and HGNC
acute lymphocytic leukemia EZH2 Ezh2* 2 models HomoloGene and HGNC
acute myeloid leukemia KMT2A Kmt2a* 4 models HomoloGene and HGNC
acute myeloid leukemia MYBL2 Mybl2* 1 model HomoloGene and HGNC
acute myeloid leukemia SPI1 Spi1* 1 model HomoloGene and HGNC
acute myeloid leukemia ARID4A Arid4a* 2 models HomoloGene and HGNC
acute myeloid leukemia CREBBP Crebbp* 1 model HomoloGene and HGNC
age related macular degeneration MDM1 Mdm1* 1 model HomoloGene and HGNC
age related macular degeneration CCL2 Ccl2* 3 models HGNC
age related macular degeneration CCR2 Ccr2* 1 model HomoloGene and HGNC
age related macular degeneration CD46 Cd46* 1 model HomoloGene and HGNC
age related macular degeneration 1 VLDLR Vldlr* 1 model HomoloGene and HGNC
age related macular degeneration 1 CRYBA1 Cryba1* 1 model HomoloGene and HGNC
aggressive periodontitis POSTN Postn* 1 model HomoloGene and HGNC
Alzheimer's disease APP App* 113 models HomoloGene and HGNC
Alzheimer's disease CAV1 Cav1* 1 model HomoloGene and HGNC
Alzheimer's disease LRP1 Lrp1* 2 models HomoloGene and HGNC
Alzheimer's disease MME Mme* 1 model HomoloGene and HGNC
Alzheimer's disease PIN1 Pin1* 2 models HomoloGene and HGNC
Alzheimer's disease PLAU Plau* 1 model HomoloGene and HGNC
Alzheimer's disease PLCB1 Plcb1* 1 model HomoloGene and HGNC
Alzheimer's disease PSEN1 Psen1* 51 models HomoloGene and HGNC
amyotrophic lateral sclerosis PSMC4 Psmc4* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis ZNF106 Zfp106* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis EPG5 Epg5* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis ADARB1 Adarb1* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis type 1 VPS54 Vps54* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis type 1 VEGFA Vegfa* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis type 1 SOD2 Sod2* 1 model HomoloGene and HGNC
amyotrophic lateral sclerosis type 1 SNCG Sncg* 1 model HomoloGene and HGNC
androgen insensitivity syndrome FKBP4 Fkbp4* 2 models HomoloGene and HGNC
anencephaly EFNA5 Efna5* 1 model HomoloGene and HGNC
anencephaly LMO4 Lmo4* 1 model HomoloGene and HGNC
anencephaly CECR2 Cecr2* 3 models HomoloGene and HGNC
angle-closure glaucoma TFAP2B Tfap2b* 1 model HomoloGene and HGNC
ankyloglossia LGR5 Lgr5* 1 model HomoloGene and HGNC
annular pancreas GDF1 Gdf1* 1 model HomoloGene and HGNC
annular pancreas IHH Ihh* 1 model HomoloGene and HGNC
aortic aneurysm KLF15 Klf15* 1 model HomoloGene and HGNC
aortic aneurysm EFEMP2 Efemp2* 2 models HomoloGene and HGNC
aortic valve disease HEY2 Hey2* 1 model HomoloGene and HGNC
aortic valve disease EGFR Egfr* 2 models HomoloGene and HGNC
aortic valve disease ELN Eln* 1 model HGNC
aortic valve disease NOS3 Nos3* 1 model HomoloGene and HGNC
aortic valve disease RBPJ Rbpj* 1 model HomoloGene and HGNC
aortic valve stenosis TNF Tnf* 1 model HomoloGene and HGNC
arrhythmogenic right ventricular cardiomyopathy PPP1R13L Ppp1r13l* 1 model HomoloGene and HGNC
arrhythmogenic right ventricular cardiomyopathy PDLIM3 Pdlim3* 1 model HGNC
arrhythmogenic right ventricular dysplasia 5 RPSA Rpsa* 1 model HomoloGene and HGNC
arterial tortuosity syndrome MUS81 Mus81* 1 model HomoloGene and HGNC
arteriovenous malformations of the brain ACVRL1 Acvrl1* 1 model HomoloGene and HGNC
arteriovenous malformations of the brain ENG Eng* 1 model HomoloGene and HGNC
arteriovenous malformations of the brain NOTCH4 Notch4* 1 model HomoloGene and HGNC
asthma IL4R Il4ra* 2 models HomoloGene and HGNC
asthma ITGB6 Itgb6* 1 model HomoloGene and HGNC
asthma RUNX3 Runx3* 1 model HomoloGene and HGNC
asthma TBX21 Tbx21* 2 models HomoloGene and HGNC
astrocytoma HRAS Hras* 1 model HomoloGene and HGNC
atopic dermatitis ADAM17 Adam17* 1 model HomoloGene and HGNC
atopic dermatitis RELB Relb* 1 model HomoloGene and HGNC
atopic dermatitis SHARPIN Sharpin* 1 model HomoloGene and HGNC
atopic dermatitis TMEM79 Tmem79* 2 models HomoloGene and HGNC
atopic dermatitis TRAF3IP2 Traf3ip2* 5 models HomoloGene and HGNC
atopic dermatitis CASP8 Casp8* 1 model HomoloGene and HGNC
atopic dermatitis TRPV3 Trpv3* 1 model HomoloGene and HGNC
atopic dermatitis TSLP Tslp* 1 model HomoloGene and HGNC
atopic dermatitis IL18 Il18* 1 model HomoloGene and HGNC
atopic dermatitis NFKBIA Nfkbia* 1 model HomoloGene and HGNC
atopic dermatitis NFKBIZ Nfkbiz* 1 model HomoloGene and HGNC
atopic dermatitis Noa* 1 model
atopic dermatitis CTSE Ctse* 1 model HomoloGene and HGNC
atopic dermatitis IL13 Il13* 1 model HomoloGene and HGNC
atopic dermatitis IL4 Il4* 1 model HomoloGene and HGNC
atopic dermatitis 2 Flg* 1 model
atrial heart septal defect 1 NTF3 Ntf3* 1 model HomoloGene and HGNC
atrial heart septal defect 1 pta* 1 model
atrial heart septal defect 1 CCN1 Ccn1* 1 model HomoloGene and HGNC
atrial heart septal defect 1 avc2* 1 model
atrichia with papular lesions ODC1 Odc1* 1 model HomoloGene and HGNC
atrioventricular septal defect CCN1 Ccn1* 1 model HomoloGene and HGNC
atrioventricular septal defect BMP4 Bmp4* 2 models HomoloGene and HGNC
atrioventricular septal defect avc3* 1 model
atrioventricular septal defect DNAH11 Dnah11* 1 model HomoloGene and HGNC
atrioventricular septal defect IFT172 Ift172* 1 model HomoloGene and HGNC
atrioventricular septal defect l11Jus16* 1 model
atrioventricular septal defect MKS1 Mks1* 1 model HomoloGene and HGNC
atrioventricular septal defect NR1D2 Nr1d2* 1 model HomoloGene and HGNC
atrioventricular septal defect pta* 1 model
autoimmune hemolytic anemia TSLP Tslp* 1 model HomoloGene and HGNC
autoimmune hypersensitivity disease GPR132 Gpr132* 1 model HomoloGene and HGNC
autoimmune hypersensitivity disease CD200 Cd200* 1 model HomoloGene and HGNC
autosomal dominant limb-girdle muscular dystrophy type 1B ZMPSTE24 Zmpste24* 1 model HomoloGene and HGNC
autosomal dominant limb-girdle muscular dystrophy type 1C CAV3 Cav3* 3 models HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 25 TRPV4 Trpv4* 1 model HomoloGene and HGNC
autosomal dominant nonsyndromic deafness 4A CEACAM16 Ceacam16* 1 model HomoloGene and HGNC
autosomal dominant polycystic kidney disease PKD2 Pkd2* 1 model HomoloGene and HGNC
autosomal dominant polycystic kidney disease BICC1 Bicc1* 1 model HomoloGene and HGNC
autosomal dominant polycystic kidney disease NPHP3 Nphp3* 2 models HomoloGene and HGNC
autosomal recessive congenital ichthyosis 4B CST6 Cst6* 1 model HomoloGene and HGNC
autosomal recessive congenital ichthyosis 4B PRSS8 Prss8* 1 model HomoloGene and HGNC
autosomal recessive nonsyndromic deafness ATP6V1B1 Atp6v1b1* 1 model HomoloGene and HGNC
autosomal recessive osteopetrosis 1 ntl* 1 model
autosomal recessive polycystic kidney disease NEK8 Nek8* 1 model HomoloGene and HGNC
autosomal recessive polycystic kidney disease IFT88 Ift88* 4 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease TSC1 Tsc1* 1 model HomoloGene and HGNC
autosomal recessive polycystic kidney disease ARL3 Arl3* 1 model HomoloGene and HGNC
autosomal recessive polycystic kidney disease DZIP1L Dzip1l* 2 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease BICC1 Bicc1* 6 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease CYS1 Cys1* 5 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease PKD1 Pkd1* 2 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease PKHD1 Pkhd1* 6 models HomoloGene and HGNC
autosomal recessive polycystic kidney disease SCLT1 Sclt1* 1 model HomoloGene and HGNC
autosomal recessive polycystic kidney disease NEK1 Nek1* 2 models HomoloGene and HGNC
Axenfeld-Rieger syndrome type 1 HMGN2 Hmgn2* 1 model HGNC
Axenfeld-Rieger syndrome type 3 BMP4 Bmp4* 1 model HomoloGene and HGNC
azoospermia SYCP3 Sycp3* 1 model HomoloGene and HGNC
azoospermia GOPC Gopc* 1 model HomoloGene and HGNC
Bartter disease CLCNKA, CLCNKB Clcnkb*, Clcnka 1 model HGNC
biliary atresia SOX17 Sox17* 1 model HomoloGene and HGNC
bladder exstrophy TP63 Trp63* 1 model HomoloGene and HGNC
bone development disease NPR2 Npr2* 1 model HomoloGene and HGNC
bone structure disease QRFPR Qrfpr* 1 model HomoloGene and HGNC
bone structure disease POSTN Postn* 1 model HomoloGene and HGNC
brachydactyly type A1 SHH Shh* 1 model HomoloGene and HGNC
brain disease PTEN Pten* 1 model HomoloGene and HGNC
breast cancer CAV1 Cav1* 1 model HomoloGene and HGNC
breast cancer APC Apc* 2 models HomoloGene and HGNC
breast cancer WNT1 Wnt1* 2 models HomoloGene and HGNC
breast cancer STAT1 Stat1* 1 model HomoloGene and HGNC
breast cancer SMARCA4 Smarca4* 1 model HomoloGene and HGNC
breast cancer MYC Myc* 10 models HomoloGene and HGNC
breast cancer MET Met* 1 model HomoloGene and HGNC
breast cancer HGF Hgf* 2 models HomoloGene and HGNC
breast cancer ETV6 Etv6* 1 model HomoloGene and HGNC
breast cancer ESPL1 Espl1* 1 model HomoloGene and HGNC
breast cancer ERBB2 Erbb2* 21 models HomoloGene and HGNC
breast metaplastic carcinoma CCN6 Ccn6* 1 model HomoloGene and HGNC
Bruton-type agammaglobulinemia PIK3R1 Pik3r1* 2 models HomoloGene and HGNC
bullous pemphigoid COL17A1 Col17a1* 1 model HGNC
buphthalmos FOXC1 Foxc1* 2 models HomoloGene and HGNC
buphthalmos TYR Tyr* 3 models HomoloGene and HGNC
CAKUT LIFR Lifr* 1 model HomoloGene and HGNC
Camurati-Engelmann disease MITF Mitf* 1 model HomoloGene and HGNC
Canavan disease SOD2 Sod2* 1 model HomoloGene and HGNC
cardiomyopathy LRP1 Lrp1* 1 model HomoloGene and HGNC
cardiomyopathy PPARGC1A Ppargc1a* 1 model HomoloGene and HGNC
cardiomyopathy IFNG Ifng* 1 model HomoloGene and HGNC
cardiomyopathy DES Des* 1 model HomoloGene and HGNC
cardiomyopathy b2b2153Clo* 1 model
cardiomyopathy ACSL1 Acsl1* 1 model HomoloGene and HGNC
cataract SORD Sord* 1 model HomoloGene and HGNC
cataract DNASE2B Dnase2b* 1 model HomoloGene and HGNC
cataract Cryge*, Crygf 2 models HomoloGene
cataract CRYGA Cryga* 1 model HomoloGene and HGNC
cataract Tcm* 1 model
cataract PAX6 Pax6* 1 model HomoloGene and HGNC
cataract Coc* 2 models
cataract Nuca* 1 model
cataract LIM2 Lim2* 1 model HomoloGene and HGNC
cataract Ccw* 1 model
cataract Cat4* 3 models
cataract Cat2* 1 model
cataract Apoca* 1 model
cataract Apo* 1 model
cataract Alm* 1 model
cataract Acc* 1 model
cataract Idc* 1 model
cataract Iac* 1 model
cataract GCLC Gclc* 1 model HomoloGene and HGNC
cataract Enc* 1 model
cataract 2 multiple types CRYGD Crygd* 1 model HomoloGene and HGNC
catecholaminergic polymorphic ventricular tachycardia FKBP1B Fkbp1b* 1 model HomoloGene and HGNC
centronuclear myopathy KLHL31 Klhl31* 1 model HomoloGene and HGNC
centronuclear myopathy PLN Pln* 1 model HGNC
cerebellar ataxia CACNA1A Cacna1a* 1 model HomoloGene and HGNC
cerebellar disease ZNF423 Zfp423* 1 model HomoloGene and HGNC
cerebral cavernous malformation 3