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
     17-beta hydroxysteroid dehydrogenase 3 deficiency HSD17B3* Hsd17b3* 1 model Alliance of Genome Resources
2-aminoadipic 2-oxoadipic aciduria DHTKD1* Dhtkd1* 1 model Alliance of Genome Resources
3-methylglutaconic aciduria type 3 OPA3* Opa3* 1 model Alliance of Genome Resources
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC1* Serac1* 1 model Alliance of Genome Resources
aceruloplasminemia CP* Cp* 3 models Alliance of Genome Resources
acheiropody LMBR1* Lmbr1* 1 model Alliance of Genome Resources
achondrogenesis type IA TRIP11* Trip11* 3 models Alliance of Genome Resources
achondrogenesis type II COL2A1* Col2a1* 1 model Alliance of Genome Resources
achromatopsia 2 CNGA3* Cnga3* 3 models Alliance of Genome Resources
achromatopsia 3 CNGB3* Cngb3* 2 models Alliance of Genome Resources
achromatopsia 7 ATF6* Atf6* 1 model Alliance of Genome Resources
acromesomelic dysplasia, Grebe type GDF5* Gdf5* 2 models Alliance of Genome Resources
acromesomelic dysplasia, Hunter-Thompson type GDF5* Gdf5* 1 model Alliance of Genome Resources
acromesomelic dysplasia, Maroteaux type NPR2* Npr2* 2 models Alliance of Genome Resources
adenine phosphoribosyltransferase deficiency APRT* Aprt* 3 models Alliance of Genome Resources
adult hypophosphatasia ALPL* Alpl* 9 models Alliance of Genome Resources
adult-onset autosomal dominant demyelinating leukodystrophy LMNB1* Lmnb1* 3 models Alliance of Genome Resources
advanced sleep phase syndrome 1 PER2* Per2* 2 models Alliance of Genome Resources
agenesis of the corpus callosum with peripheral neuropathy SLC12A6* Slc12a6* 3 models Alliance of Genome Resources
age related macular degeneration 12 CX3CR1* Cx3cr1* 2 models Alliance of Genome Resources
age related macular degeneration 4 CFH* Cfh*, Cfhr4 1 model Alliance of Genome Resources
Aicardi-Goutieres syndrome TREX1* Trex1* 1 model Alliance of Genome Resources
Aicardi-Goutieres syndrome ADAR* Adar* 2 models Alliance of Genome Resources
alacrima, achalasia, and impaired intellectual development syndrome GMPPA* Gmppa* 1 model Alliance of Genome Resources
Alexander disease GFAP* Gfap* 7 models Alliance of Genome Resources
alopecia universalis HR* Hr* 3 models Alliance of Genome Resources
alpha-2-plasmin inhibitor deficiency SERPINF2* Serpinf2* 1 model Alliance of Genome Resources
alpha thalassemia-X-linked intellectual disability syndrome ATRX* Atrx* 3 models Alliance of Genome Resources
Alstrom syndrome ALMS1* Alms1* 6 models Alliance of Genome Resources
Alzheimer's disease 3 PSEN1* Psen1* 15 models Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A2 MMP20* Mmp20* 1 model Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A3 WDR72* Wdr72* 1 model Alliance of Genome Resources
amelogenesis imperfecta type 1B ENAM* Enam* 6 models Alliance of Genome Resources
amelogenesis imperfecta type 3C RELT* Relt* 1 model Alliance of Genome Resources
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome TP63* Trp63* 1 model Alliance of Genome Resources
antithrombin III deficiency SERPINC1* Serpinc1* 1 model Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 10 DSG2* Dsg2* 1 model Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 12 JUP* Jup* 5 models Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 2 RYR2* Ryr2* 1 model Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 8 DSP* Dsp* 1 model Alliance of Genome Resources
asphyxiating thoracic dystrophy 2 IFT80* Ift80* 1 model Alliance of Genome Resources
asphyxiating thoracic dystrophy 3 DYNC2H1* Dync2h1* 1 model Alliance of Genome Resources
ataxia telangiectasia ATM* Atm* 9 models Alliance of Genome Resources
Athabaskan brainstem dysgenesis syndrome HOXA1* Hoxa1* 1 model Alliance of Genome Resources
atransferrinemia TF* Trf* 2 models Alliance of Genome Resources
atrial heart septal defect 2 GATA4* Gata4* 1 model Alliance of Genome Resources
atrial heart septal defect 7 NKX2-5* Nkx2-5* 2 models Alliance of Genome Resources
atrichia with papular lesions HR* Hr* 2 models Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 2B CASP8* Casp8* 1 model Alliance of Genome Resources
autosomal dominant auditory neuropathy 1 DIAPH3* Diaph3* 2 models Alliance of Genome Resources
autosomal dominant congenital deafness with onychodystrophy ATP6V1B2* Atp6v1b2* 2 models Alliance of Genome Resources
autosomal dominant familial periodic fever TNFRSF1A* Tnfrsf1a* 3 models Alliance of Genome Resources
autosomal dominant hypocalcemia 1 CASR* Casr* 2 models Alliance of Genome Resources
autosomal dominant hypocalcemia 2 GNA11* Gna11* 2 models Alliance of Genome Resources
autosomal dominant hypophosphatemic rickets FGF23* Fgf23* 3 models Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 26 AUTS2* Auts2* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 38 EEF1A2* Eef1a2* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 39 MYT1L* Myt1l* 2 models Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 7 DYRK1A* Dyrk1a* 1 model Alliance of Genome Resources
autosomal dominant keratitis-ichthyosis-deafness syndrome GJB2* Gjb2* 2 models Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 3 CHRNB2* Chrnb2* 2 models Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 12 TECTA* Tecta* 4 models Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 13 COL11A2* Col11a2* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 22 MYO6* Myo6* 2 models Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 25 SLC17A8* Slc17a8* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 36 TMC1* Tmc1* 3 models Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 41 P2RX2* P2rx2* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 67 OSBPL2* Osbpl2* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 9 COCH* Coch* 1 model Alliance of Genome Resources
autosomal dominant osteopetrosis 2 CLCN7* Clcn7* 7 models Alliance of Genome Resources
autosomal dominant polycystic kidney disease PKD2* Pkd2* 1 model Alliance of Genome Resources
autosomal dominant pseudohypoaldosteronism type 1 NR3C2* Nr3c2* 1 model Alliance of Genome Resources
autosomal recessive Alport syndrome COL4A4* Col4a4* 5 models Alliance of Genome Resources
autosomal recessive Alport syndrome COL4A3* Col4a3* 5 models Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 TGM1* Tgm1* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 10 PNPLA1* Pnpla1* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 13 SDR9C7* Sdr9c7* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B ABCA12* Abca12* 4 models Alliance of Genome Resources
autosomal recessive isolated ectopia lentis 2 ADAMTSL4* Adamtsl4* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2A CAPN3* Capn3* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2B DYSF* Dysf* 5 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2C SGCG* Sgcg* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D SGCA* Sgca* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2E SGCB* Sgcb* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2F SGCD* Sgcd* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2G TCAP* Tcap* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2H TRIM32* Trim32* 2 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2I FKRP* Fkrp* 4 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2J TTN* Ttn* 3 models Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L ANO5* Ano5* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2P DAG1* Dag1* 1 model Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2U CRPPA* Crppa* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 12 CDH23* Cdh23* 3 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 16 STRC*, STRCP1 Strc* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 18A USH1C* Ush1c* 3 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 18B OTOG* Otog* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A GJB6* Gjb6* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A GJB2* Gjb2* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 2 MYO7A* Myo7a* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 22 OTOA* Otoa* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 23 PCDH15* Pcdh15* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 28 TRIOBP* Triobp* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 29 CLDN14* Cldn14* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 3 MYO15A* Myo15a* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 30 MYO3A* Myo3a* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 31 WHRN* Whrn* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 32 CDC14A* Cdc14a* 4 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 37 MYO6* Myo6* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 39 HGF* Hgf* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 42 ILDR1* Ildr1* 3 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 48 CIB2* Cib2* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 49 MARVELD2* Marveld2* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 59 PJVK* Pjvk* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 63 LRTOMT*, LRRC51, TOMT Tomt*, Lrrc51 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 68 S1PR2* S1pr2* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 7 TMC1* Tmc1* 6 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 74 MSRB3* Msrb3* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 79 TPRN* Tprn* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 88 ELMOD3* Elmod3* 1 model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 9 OTOF* Otof* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 93 CABP2* Cabp2* 1 model Alliance of Genome Resources
autosomal recessive osteopetrosis 1 TCIRG1* Tcirg1* 2 models Alliance of Genome Resources
autosomal recessive osteopetrosis 2 TNFSF11* Tnfsf11* 3 models Alliance of Genome Resources
autosomal recessive osteopetrosis 3 CA2* Car2* 1 model Alliance of Genome Resources
autosomal recessive osteopetrosis 4 CLCN7* Clcn7* 2 models Alliance of Genome Resources
autosomal recessive osteopetrosis 5 OSTM1* Ostm1* 1 model Alliance of Genome Resources
autosomal recessive osteopetrosis 6 PLEKHM1* Plekhm1* 2 models Alliance of Genome Resources
autosomal recessive osteopetrosis 8 SNX10* Snx10* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease PKHD1* Pkhd1* 6 models Alliance of Genome Resources
autosomal recessive pseudohypoaldosteronism type 1 SCNN1G* Scnn1g* 1 model Alliance of Genome Resources
autosomal recessive pseudohypoaldosteronism type 1 SCNN1B* Scnn1b* 1 model Alliance of Genome Resources
autosomal recessive Robinow syndrome ROR2* Ror2* 2 models Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 13 GRM1* Grm1* 1 model Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 16 STUB1* Stub1* 1 model Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 18 GRID2* Grid2* 2 models Alliance of Genome Resources
Axenfeld-Rieger syndrome type 1 PITX2* Pitx2* 8 models Alliance of Genome Resources
Bannayan-Riley-Ruvalcaba syndrome PTEN* Pten* 3 models Alliance of Genome Resources
Bardet-Biedl syndrome 1 BBS1* Bbs1* 3 models Alliance of Genome Resources
Bardet-Biedl syndrome 10 BBS10* Bbs10* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome 16 SDCCAG8* Sdccag8* 2 models Alliance of Genome Resources
Bardet-Biedl syndrome 17 LZTFL1* Lztfl1* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome 18 BBIP1* Bbip1* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome 2 BBS2* Bbs2* 2 models Alliance of Genome Resources
Bardet-Biedl syndrome 4 BBS4* Bbs4* 5 models Alliance of Genome Resources
Bardet-Biedl syndrome 5 BBS5* Bbs5* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome 6 MKKS* Mkks* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome 8 TTC8* Ttc8* 1 model Alliance of Genome Resources
Beare-Stevenson cutis gyrata syndrome FGFR2* Fgfr2* 1 model Alliance of Genome Resources
Bernard-Soulier syndrome GP1BB* Gp1bb* 4 models Alliance of Genome Resources
Bernard-Soulier syndrome GP1BA* Gp1ba* 1 model Alliance of Genome Resources
beta thalassemia HBB*, HBD Hbb-b1*, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt 14 models Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia A PTS* Pts* 2 models Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia B GCH1* Gch1* 1 model Alliance of Genome Resources
biotinidase deficiency BTD* Btd* 1 model Alliance of Genome Resources
Birt-Hogg-Dube syndrome FLCN* Flcn* 2 models Alliance of Genome Resources
blepharophimosis, ptosis, and epicanthus inversus syndrome FOXL2* Foxl2* 2 models Alliance of Genome Resources
Bloom syndrome BLM* Blm* 7 models Alliance of Genome Resources
Bosch-Boonstra-Schaaf optic atrophy syndrome NR2F1* Nr2f1* 1 model Alliance of Genome Resources
Bowen-Conradi syndrome EMG1* Emg1* 1 model Alliance of Genome Resources
brachydactyly type A1 IHH* Ihh* 1 model Alliance of Genome Resources
brachydactyly type A1C GDF5* Gdf5* 1 model Alliance of Genome Resources
brachydactyly type A2 GDF5* Gdf5* 1 model Alliance of Genome Resources
brachydactyly type C GDF5* Gdf5* 1 model Alliance of Genome Resources
brachyolmia-amelogenesis imperfecta syndrome LTBP3* Ltbp3* 1 model Alliance of Genome Resources
brain small vessel disease 1 COL4A1* Col4a1* 1 model Alliance of Genome Resources
branched-chain keto acid dehydrogenase kinase deficiency BCKDK* Bckdk* 1 model Alliance of Genome Resources
branchiootorenal syndrome EYA1* Eya1* 4 models Alliance of Genome Resources
branchiootorenal syndrome SIX1* Six1* 1 model Alliance of Genome Resources
brittle cornea syndrome 1 ZNF469* Zfp469* 1 model Alliance of Genome Resources
Brugada syndrome 1 SCN5A* Scn5a* 2 models Alliance of Genome Resources
Brugada syndrome 7 SCN3B* Scn3b* 1 model Alliance of Genome Resources
bullous congenital ichthyosiform erythroderma KRT2* Krt2* 2 models Alliance of Genome Resources
CADASIL 1 NOTCH3* Notch3* 8 models Alliance of Genome Resources
campomelic dysplasia SOX9* Sox9* 8 models Alliance of Genome Resources
Canavan disease ASPA* Aspa* 4 models Alliance of Genome Resources
carbamoyl phosphate synthetase I deficiency disease CPS1* Cps1* 1 model Alliance of Genome Resources
Carney complex PRKAR1A* Prkar1a* 4 models Alliance of Genome Resources
cataract 10 multiple types CRYBA1* Cryba1* 2 models Alliance of Genome Resources
cataract 14 multiple types GJA3* Gja3* 2 models Alliance of Genome Resources
cataract 15 multiple types MIP* Mip* 7 models Alliance of Genome Resources
cataract 16 multiple types CRYAB* Cryab* 1 model Alliance of Genome Resources
cataract 19 multiple types LIM2* Lim2* 4 models Alliance of Genome Resources
cataract 1 multiple types GJA8* Gja8* 4 models Alliance of Genome Resources
cataract 20 multiple types CRYGS* Crygs* 3 models Alliance of Genome Resources
cataract 21 multiple types MAF* Maf* 1 model Alliance of Genome Resources
cataract 2 multiple types CRYGC* Crygc* 3 models Alliance of Genome Resources
cataract 30 VIM* Vim* 1 model Alliance of Genome Resources
cataract 39 multiple types CRYGB* Crygb* 6 models Alliance of Genome Resources
cataract 3 multiple types CRYBB2* Crybb2* 3 models Alliance of Genome Resources
cataract 4 multiple types CRYGD* Crygd*, Cryge, Crygf 2 models Alliance of Genome Resources
cataract 5 multiple types HSF4* Hsf4* 2 models Alliance of Genome Resources
cataract 6 multiple types EPHA2* Epha2* 1 model Alliance of Genome Resources
cataract 9 multiple types CRYAA* Cryaa* 9 models Alliance of Genome Resources
Cayman type cerebellar ataxia ATCAY* Atcay* 3 models Alliance of Genome Resources
CEDNIK syndrome SNAP29* Snap29* 2 models Alliance of Genome Resources
central core disease RYR1* Ryr1* 3 models Alliance of Genome Resources
central precocious puberty 2 MKRN3* Mkrn3* 1 model Alliance of Genome Resources
cerebellar ataxia, mental retardation and dysequlibrium syndrome ATP8A2* Atp8a2* 4 models Alliance of Genome Resources
cerebellar ataxia, mental retardation and dysequlibrium syndrome CA8* Car8* 1 model Alliance of Genome Resources
cerebellar ataxia type 42 CACNA1G* Cacna1g* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K GDAP1* Gdap1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2O DYNC1H1* Dync1h1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2P LRSAM1* Lrsam1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Q DHTKD1* Dhtkd1* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate C YARS1* Yars* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate D COX6A1* Cox6a1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1A PMP22* Pmp22* 9 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1B MPZ* Mpz* 10 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1C LITAF* Litaf* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1E PMP22* Pmp22* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A1 KIF1B* Kif1b* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A2A MFN2* Mfn2* 5 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B1 LMNA* Lmna* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2D GARS1* Gars* 4 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2E NEFL* Nefl* 3 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3 PMP22* Pmp22* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3 MPZ* Mpz* 3 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B1 MTMR2* Mtmr2* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B2 SBF2* Sbf2* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4B3 SBF1* Sbf1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4C SH3TC2* Sh3tc2* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4D NDRG1* Ndrg1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4E EGR2* Egr2* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4H FGD4* Fgd4* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4J FIG4* Fig4* 2 models Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia SACS* Sacs* 2 models Alliance of Genome Resources
Chediak-Higashi syndrome LYST* Lyst* 9 models Alliance of Genome Resources
cherubism SH3BP2* Sh3bp2* 2 models Alliance of Genome Resources
childhood hypophosphatasia ALPL* Alpl* 1 model Alliance of Genome Resources
chondrodysplasia with joint dislocations gPAPP type BPNT2* Bpnt2* 1 model Alliance of Genome Resources
choreaacanthocytosis VPS13A* Vps13a* 1 model Alliance of Genome Resources
CINCA Syndrome NLRP3* Nlrp3* 1 model Alliance of Genome Resources
cleidocranial dysplasia RUNX2* Runx2* 4 models Alliance of Genome Resources
Clouston syndrome GJB6* Gjb6* 1 model Alliance of Genome Resources
Cockayne syndrome ERCC8* Ercc8* 2 models Alliance of Genome Resources
Cockayne syndrome ERCC6* Ercc6* 4 models Alliance of Genome Resources
Coffin-Siris syndrome 1 ARID1B* Arid1b* 1 model Alliance of Genome Resources
Cohen syndrome VPS13B* Vps13b* 1 model Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 7 TUBB2B* Tubb2b* 1 model Alliance of Genome Resources
Compton-North congenital myopathy CNTN1* Cntn1* 3 models Alliance of Genome Resources
congenital afibrinogenemia FGG* Fgg* 1 model Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia MPL* Mpl* 1 model Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay PBX1* Pbx1* 1 model Alliance of Genome Resources
congenital central hypoventilation syndrome PHOX2B* Phox2b* 1 model Alliance of Genome Resources
congenital diarrhea 5 with tufting enteropathy EPCAM* Epcam* 1 model Alliance of Genome Resources
congenital disorder of glycosylation type IIa MGAT2* Mgat2* 2 models Alliance of Genome Resources
congenital disorder of glycosylation type IIc SLC35C1* Slc35c1* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 1 AGPAT2* Agpat2* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 2 BSCL2* Bscl2* 3 models Alliance of Genome Resources
congenital generalized lipodystrophy type 4 CAVIN1* Cavin1* 1 model Alliance of Genome Resources
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK13* Cdk13* 1 model Alliance of Genome Resources
congenital hereditary endothelial dystrophy of cornea SLC4A11* Slc4a11* 1 model Alliance of Genome Resources
congenital megabladder MYOCD* Myocd* 2 models Alliance of Genome Resources
congenital merosin-deficient muscular dystrophy 1A LAMA2* Lama2* 10 models Alliance of Genome Resources
congenital muscular dystrophy due to integrin alpha-7 deficiency ITGA7* Itga7* 1 model Alliance of Genome Resources
congenital muscular dystrophy due to LMNA mutation LMNA* Lmna* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 10 DOK7* Dok7* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 11 RAPSN* Rapsn* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 12 GFPT1* Gfpt1* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 19 COL13A1* Col13a1* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 3A CHRND* Chrnd* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 4A CHRNE* Chrne* 2 models Alliance of Genome Resources
congenital myasthenic syndrome 4C CHRNE* Chrne* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 5 COLQ* Colq* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 6 CHAT* Chat* 2 models Alliance of Genome Resources
congenital myasthenic syndrome 8 AGRN* Agrn* 1 model Alliance of Genome Resources
congenital myasthenic syndrome 9 MUSK* Musk* 3 models Alliance of Genome Resources
congenital nystagmus 1 FRMD7* Frmd7* 2 models Alliance of Genome Resources
congenital secretory chloride diarrhea 1 SLC26A3* Slc26a3* 1 model Alliance of Genome Resources
congenital stationary night blindness 1B GRM6* Grm6* 2 models Alliance of Genome Resources
congenital stationary night blindness 1D SLC24A1* Slc24a1* 1 model Alliance of Genome Resources
congenital stationary night blindness 1E GPR179* Gpr179* 1 model Alliance of Genome Resources
congenital stationary night blindness 1F LRIT3* Lrit3* 1 model Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 1 RHO* Rho* 1 model Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 2 PDE6B* Pde6b* 14 models Alliance of Genome Resources
cortical dysplasia-focal epilepsy syndrome CNTNAP2* Cntnap2* 1 model Alliance of Genome Resources
cortisone reductase deficiency 2 HSD11B1* Hsd11b1* 1 model Alliance of Genome Resources
Costello syndrome HRAS* Hras* 2 models Alliance of Genome Resources
craniotubular dysplasia Ikegawa type TMEM53* Tmem53* 1 model Alliance of Genome Resources
cystathioninuria CTH* Cth* 1 model Alliance of Genome Resources
cystic fibrosis CFTR* Cftr* 19 models Alliance of Genome Resources
cystinosis CTNS* Ctns* 1 model Alliance of Genome Resources
dentinogenesis imperfecta DSPP* Dspp* 1 model Alliance of Genome Resources
Denys-Drash syndrome WT1* Wt1* 6 models Alliance of Genome Resources
developmental and epileptic encephalopathy 16 TBC1D24* Tbc1d24* 1 model Alliance of Genome Resources
developmental and epileptic encephalopathy 17 GNAO1* Gnao1* 3 models Alliance of Genome Resources
developmental and epileptic encephalopathy 39 SLC25A12* Slc25a12* 1 model Alliance of Genome Resources
developmental and epileptic encephalopathy 7 KCNQ2* Kcnq2* 1 model Alliance of Genome Resources
Diamond-Blackfan anemia 7 RPL11* Rpl11* 1 model Alliance of Genome Resources
diastrophic dysplasia SLC26A2* Slc26a2* 1 model Alliance of Genome Resources
dicarboxylic aminoaciduria SLC1A1* Slc1a1* 1 model Alliance of Genome Resources
DiGeorge syndrome TBX1* Tbx1* 21 models Alliance of Genome Resources
dilated cardiomyopathy 1A LMNA* Lmna* 5 models Alliance of Genome Resources
dilated cardiomyopathy 1C LDB3* Ldb3* 3 models Alliance of Genome Resources
dilated cardiomyopathy 1CC NEXN* Nexn* 4 models Alliance of Genome Resources
dilated cardiomyopathy 1D TNNT2* Tnnt2* 5 models Alliance of Genome Resources
dilated cardiomyopathy 1DD RBM20* Rbm20* 3 models Alliance of Genome Resources
dilated cardiomyopathy 1HH BAG3* Bag3* 2 models Alliance of Genome Resources
dilated cardiomyopathy 1R ACTC1* Actc1* 2 models Alliance of Genome Resources
dilated cardiomyopathy 1Y TPM1* Tpm1* 3 models Alliance of Genome Resources
dilated cardiomyopathy 2F BAG5* Bag5* 1 model Alliance of Genome Resources
distal hereditary motor neuronopathy type 2A HSPB8* Hspb8* 1 model Alliance of Genome Resources
distal spinal muscular atrophy 1 IGHMBP2* Ighmbp2* 2 models Alliance of Genome Resources
DNA ligase IV deficiency LIG4* Lig4* 2 models Alliance of Genome Resources
Donnai-Barrow syndrome LRP2* Lrp2* 1 model Alliance of Genome Resources
Doyne honeycomb retinal dystrophy EFEMP1* Efemp1* 4 models Alliance of Genome Resources
Dravet syndrome SCN1A* Scn1a* 8 models Alliance of Genome Resources
Duane-radial ray syndrome SALL4* Sall4* 4 models Alliance of Genome Resources
EAST syndrome KCNJ10* Kcnj10* 2 models Alliance of Genome Resources
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 TP63* Trp63* 4 models Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1 COL5A1* Col5a1* 3 models Alliance of Genome Resources
Ellis-Van Creveld syndrome EVC* Evc* 1 model Alliance of Genome Resources
Ellis-Van Creveld syndrome EVC2* Evc2* 1 model Alliance of Genome Resources
endocrine-cerebro-osteodysplasia syndrome CILK1* Cilk1* 2 models Alliance of Genome Resources
enhanced S-cone syndrome NR2E3* Nr2e3* 2 models Alliance of Genome Resources
epidermolysis bullosa simplex Ogna type PLEC* Plec* 4 models Alliance of Genome Resources
epidermolysis bullosa simplex with muscular dystrophy PLEC* Plec* 2 models Alliance of Genome Resources
episodic kinesigenic dyskinesia 1 PRRT2* Prrt2* 2 models Alliance of Genome Resources
factor XI deficiency F11* F11* 1 model Alliance of Genome Resources
factor XII deficiency F12* F12* 1 model Alliance of Genome Resources
factor XIII deficiency F13A1* F13a1* 2 models Alliance of Genome Resources
familial cold autoinflammatory syndrome 1 NLRP3* Nlrp3* 2 models Alliance of Genome Resources
familial cold autoinflammatory syndrome 4 NLRC4* Nlrc4* 1 model Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies SERPINI1* Serpini1* 3 models Alliance of Genome Resources
familial episodic pain syndrome 3 SCN11A* Scn11a* 1 model Alliance of Genome Resources
familial erythrocytosis 2 VHL*, VHLL Vhl* 1 model Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 2 PRF1* Prf1* 1 model Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 3 UNC13D* Unc13d* 1 model Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 4 STX11* Stx11* 1 model Alliance of Genome Resources
familial hypocalciuric hypercalcemia 1 CASR* Casr* 7 models Alliance of Genome Resources
familial lipoprotein lipase deficiency LPL* Lpl* 4 models Alliance of Genome Resources
familial Mediterranean fever MEFV* Mefv* 4 models Alliance of Genome Resources
familial temporal lobe epilepsy 1 LGI1* Lgi1* 4 models Alliance of Genome Resources
Fanconi anemia complementation group A FANCA* Fanca* 3 models Alliance of Genome Resources
Fanconi anemia complementation group C FANCC* Fancc* 2 models Alliance of Genome Resources
Fanconi anemia complementation group D1 BRCA2* Brca2* 1 model Alliance of Genome Resources
Fanconi anemia complementation group D2 FANCD2* Fancd2* 6 models Alliance of Genome Resources
fetal encasement syndrome CHUK* Chuk* 3 models Alliance of Genome Resources
fibrodysplasia ossificans progressiva ACVR1* Acvr1* 6 models Alliance of Genome Resources
fibular hypoplasia and complex brachydactyly GDF5* Gdf5* 1 model Alliance of Genome Resources
focal segmental glomerulosclerosis 1 ACTN4* Actn4* 1 model Alliance of Genome Resources
focal segmental glomerulosclerosis 2 TRPC6* Trpc6* 3 models Alliance of Genome Resources
focal segmental glomerulosclerosis 3 CD2AP* Cd2ap* 1 model Alliance of Genome Resources
Friedreich ataxia FXN* Fxn* 6 models Alliance of Genome Resources
frontonasal dysplasia 3 ALX1* Alx1* 1 model Alliance of Genome Resources
Fuhrmann syndrome WNT7A* Wnt7a* 2 models Alliance of Genome Resources
Fukuyama congenital muscular dystrophy FKTN* Fktn* 6 models Alliance of Genome Resources
geleophysic dysplasia 1 ADAMTSL2* Adamtsl2* 1 model Alliance of Genome Resources
giant axonal neuropathy 1 GAN* Gan* 2 models Alliance of Genome Resources
Gitelman syndrome SLC12A3* Slc12a3* 1 model Alliance of Genome Resources
glutaric acidemia I GCDH* Gcdh* 2 models Alliance of Genome Resources
glutaric acidemia type 3 SUGCT* Sugct* 1 model Alliance of Genome Resources
glycogen storage disease III AGL* Agl* 2 models Alliance of Genome Resources
glycogen storage disease V PYGM* Pygm* 1 model Alliance of Genome Resources
glycogen storage disease XV GYG1* Gyg* 1 model Alliance of Genome Resources
GM1 gangliosidosis GLB1* Glb1* 3 models Alliance of Genome Resources
GM2 gangliosidosis, AB variant GM2A* Gm2a* 1 model Alliance of Genome Resources
gnathodiaphyseal dysplasia ANO5* Ano5* 1 model Alliance of Genome Resources
Goldberg-Shprintzen syndrome KIFBP* Kifbp* 2 models Alliance of Genome Resources
GRACILE syndrome BCS1L* Bcs1l* 1 model Alliance of Genome Resources
gray platelet syndrome NBEAL2* Nbeal2* 3 models Alliance of Genome Resources
Greig cephalopolysyndactyly syndrome GLI3* Gli3* 1 model Alliance of Genome Resources
Griscelli syndrome type 1 MYO5A* Myo5a* 2 models Alliance of Genome Resources
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions GRN* Grn* 3 models Alliance of Genome Resources
Hajdu-Cheney syndrome NOTCH2* Notch2* 4 models Alliance of Genome Resources
hand-foot-genital syndrome HOXA13* Hoxa13* 5 models Alliance of Genome Resources
hereditary hemorrhagic telangiectasia ACVRL1* Acvrl1* 5 models Alliance of Genome Resources
hereditary hemorrhagic telangiectasia ENG* Eng* 6 models Alliance of Genome Resources
hereditary multiple exostoses EXT1* Ext1* 5 models Alliance of Genome Resources
hereditary neuropathy with liability to pressure palsies PMP22* Pmp22* 3 models Alliance of Genome Resources
hereditary neutrophilia CSF3R* Csf3r* 1 model Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 6 DST* Dst* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 11 SPG11* Spg11* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 13 HSPD1* Hspd1* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 15 ZFYVE26* Zfyve26* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 30 KIF1A* Kif1a* 2 models Alliance of Genome Resources
hereditary spastic paraplegia 31 REEP1* Reep1* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 35 FA2H* Fa2h* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 4 SPAST* Spast* 5 models Alliance of Genome Resources
hereditary spastic paraplegia 48 AP5Z1* Ap5z1* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 54 DDHD2* Ddhd2* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 7 SPG7* Spg7* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 ANK1* Ank1* 4 models Alliance of Genome Resources
hereditary spherocytosis type 3 SPTA1* Spta1* 5 models Alliance of Genome Resources
hereditary spherocytosis type 4 SLC4A1* Slc4a1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome BLOC1S5* Bloc1s5* 2 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 1 HPS1* Hps1* 4 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 2 AP3B1* Ap3b1* 4 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 3 HPS3* Hps3* 3 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 4 HPS4* Hps4* 2 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 5 HPS5* Hps5* 3 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 6 HPS6* Hps6* 2 models Alliance of Genome Resources
Hermansky-Pudlak syndrome 7 DTNBP1* Dtnbp1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 8 BLOC1S3* Bloc1s3* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 9 BLOC1S6* Bloc1s6* 1 model Alliance of Genome Resources
HMG-CoA synthase 2 deficiency HMGCS2* Hmgcs2* 2 models Alliance of Genome Resources
holoprosencephaly 11 CDON* Cdon* 8 models Alliance of Genome Resources
holoprosencephaly 2 SIX3* Six3* 4 models Alliance of Genome Resources
holoprosencephaly 3 SHH* Shh* 3 models Alliance of Genome Resources
holoprosencephaly 5 ZIC2* Zic2* 3 models Alliance of Genome Resources
Holt-Oram syndrome TBX5* Tbx5* 3 models Alliance of Genome Resources
hyperekplexia 1 GLRA1* Glra1* 6 models Alliance of Genome Resources
hyperekplexia 2 GLRB* Glrb* 1 model Alliance of Genome Resources
hyperekplexia 3 SLC6A5* Slc6a5* 2 models Alliance of Genome Resources
hyper IgE recurrent infection syndrome 1 STAT3* Stat3* 1 model Alliance of Genome Resources
hypogonadotropic hypogonadism 11 with or without anosmia TACR3* Tacr3* 1 model Alliance of Genome Resources
hypogonadotropic hypogonadism 12 with or without anosmia GNRH1* Gnrh1* 1 model Alliance of Genome Resources
hypogonadotropic hypogonadism 13 with or without anosmia KISS1* Kiss1* 2 models Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia GNRHR* Gnrhr* 1 model Alliance of Genome Resources
hypogonadotropic hypogonadism 8 with or without anosmia KISS1R* Kiss1r* 4 models Alliance of Genome Resources
hypomyelinating leukodystrophy 2 GJC2* Gjc2* 3 models Alliance of Genome Resources
hypomyelinating leukodystrophy 6 TUBB4A* Tubb4a* 3 models Alliance of Genome Resources
hypotrichosis 13 KRT71* Krt71* 1 model Alliance of Genome Resources
hypotrichosis 6 DSG4* Dsg4* 3 models Alliance of Genome Resources
immunodeficiency 15A IKBKB* Ikbkb* 2 models Alliance of Genome Resources
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia RAC2* Rac2* 1 model Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B* Dnmt3b* 7 models Alliance of Genome Resources
infantile hypophosphatasia ALPL* Alpl* 3 models Alliance of Genome Resources
isolated microphthalmia 6 PRSS56* Prss56* 3 models Alliance of Genome Resources
Johanson-Blizzard syndrome UBR1* Ubr1* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia ITGB4* Itgb4* 1 model Alliance of Genome Resources
juvenile polyposis syndrome BMPR1A* Bmpr1a* 1 model Alliance of Genome Resources
juvenile polyposis syndrome SMAD4* Smad4* 1 model Alliance of Genome Resources
karyomegalic interstitial nephritis FAN1* Fan1* 3 models Alliance of Genome Resources
Kaufman oculocerebrofacial syndrome UBE3B* Ube3b* 1 model Alliance of Genome Resources
KINSSHIP syndrome AFF3* Aff3* 1 model Alliance of Genome Resources
Kleefstra syndrome 1 EHMT1* Ehmt1* 2 models Alliance of Genome Resources
Kufor-Rakeb syndrome ATP13A2* Atp13a2* 1 model Alliance of Genome Resources
LADD syndrome FGF10* Fgf10* 1 model Alliance of Genome Resources
Lafora disease EPM2A* Epm2a* 2 models Alliance of Genome Resources
Lafora disease NHLRC1* Nhlrc1* 3 models Alliance of Genome Resources
Laron syndrome GHR* Ghr* 2 models Alliance of Genome Resources
Leber congenital amaurosis 1 GUCY2D* Gucy2e* 3 models Alliance of Genome Resources
Leber congenital amaurosis 12 RD3* Rd3* 1 model Alliance of Genome Resources
Leber congenital amaurosis 14 LRAT* Lrat* 1 model Alliance of Genome Resources
Leber congenital amaurosis 2 RPE65* Rpe65* 4 models Alliance of Genome Resources
Leber congenital amaurosis 4 AIPL1* Aipl1* 5 models Alliance of Genome Resources
Leber congenital amaurosis 5 LCA5* Lca5* 1 model Alliance of Genome Resources
Leber congenital amaurosis 6 RPGRIP1* Rpgrip1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 8 CRB1* Crb1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 9 NMNAT1* Nmnat1* 2 models Alliance of Genome Resources
leukocyte adhesion deficiency 1 ITGB2* Itgb2*, Itgb2l 3 models Alliance of Genome Resources
leukocyte adhesion deficiency 3 FERMT3* Fermt3* 1 model Alliance of Genome Resources
Li-Fraumeni syndrome TP53* Trp53* 8 models Alliance of Genome Resources
long QT syndrome 1 KCNQ1* Kcnq1* 3 models Alliance of Genome Resources
long QT syndrome 3 SCN5A* Scn5a* 4 models Alliance of Genome Resources
Lynch syndrome MSH2* Msh2* 5 models Alliance of Genome Resources
Lynch syndrome MLH1* Mlh1* 2 models Alliance of Genome Resources
macrocephaly-autism syndrome PTEN* Pten* 2 models Alliance of Genome Resources
Mahvash Disease GCGR* Gcgr* 1 model Alliance of Genome Resources
malignant hyperthermia RYR1* Ryr1* 5 models Alliance of Genome Resources
Marsili syndrome ZFHX2* Zfhx2* 2 models Alliance of Genome Resources
maturity-onset diabetes of the young type 1 HNF4A* Hnf4a* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young type 2 GCK* Gck* 29 models Alliance of Genome Resources
maturity-onset diabetes of the young type 3 HNF1A* Hnf1a* 3 models Alliance of Genome Resources
maturity-onset diabetes of the young type 4 PDX1* Pdx1* 1 model Alliance of Genome Resources
megaconial type congenital muscular dystrophy CHKB* Chkb* 1 model Alliance of Genome Resources
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MAST1* Mast1* 1 model Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 1 MLC1* Mlc1* 1 model Alliance of Genome Resources
microcephalic osteodysplastic primordial dwarfism type II PCNT* Pcnt* 1 model Alliance of Genome Resources
microphthalmia with limb anomalies SMOC1* Smoc1* 2 models Alliance of Genome Resources
microvillus inclusion disease MYO5B* Myo5b* 2 models Alliance of Genome Resources
mitochondrial DNA depletion syndrome 2 TK2* Tk2* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 5 SUCLA2* Sucla2* 1 model Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 1 BUB1B* Bub1b* 2 models Alliance of Genome Resources
Mowat-Wilson syndrome ZEB2* Zeb2* 1 model Alliance of Genome Resources
mucosulfatidosis SUMF1* Sumf1* 1 model Alliance of Genome Resources
Muenke Syndrome FGFR3* Fgfr3* 6 models Alliance of Genome Resources
mulibrey nanism TRIM37* Trim37* 1 model Alliance of Genome Resources
multicentric carpotarsal osteolysis syndrome MAFB* Mafb* 1 model Alliance of Genome Resources
multiple endocrine neoplasia type 1 MEN1* Men1* 7 models Alliance of Genome Resources
multiple endocrine neoplasia type 2B RET* Ret* 2 models Alliance of Genome Resources
multiple epiphyseal dysplasia 5 MATN3* Matn3* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B5 FKRP* Fkrp* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B6 LARGE1* Large1* 1 model Alliance of Genome Resources
myoclonic dystonia 11 SGCE* Sgce* 2 models Alliance of Genome Resources
myofibrillar myopathy 1 DES* Des* 4 models Alliance of Genome Resources
myofibrillar myopathy 2 CRYAB* Cryab* 4 models Alliance of Genome Resources
myofibrillar myopathy 5 FLNC* Flnc* 1 model Alliance of Genome Resources
nail-patella syndrome LMX1B* Lmx1b* 4 models Alliance of Genome Resources
Nasu-Hakola disease TYROBP* Tyrobp* 2 models Alliance of Genome Resources
nemaline myopathy 10 LMOD3* Lmod3* 2 models Alliance of Genome Resources
nemaline myopathy 11 MYPN* Mypn* 1 model Alliance of Genome Resources
nemaline myopathy 2 NEB* Neb* 4 models Alliance of Genome Resources
nemaline myopathy 3 ACTA1* Acta1* 4 models Alliance of Genome Resources
nemaline myopathy 5 TNNT1* Tnnt1* 1 model Alliance of Genome Resources
nemaline myopathy 6 KBTBD13* Kbtbd13* 1 model Alliance of Genome Resources
nemaline myopathy 8 KLHL40* Klhl40* 1 model Alliance of Genome Resources
neonatal diabetes mellitus with congenital hypothyroidism GLIS3* Glis3* 2 models Alliance of Genome Resources
nephronophthisis 1 NPHP1* Nphp1* 1 model Alliance of Genome Resources
nephronophthisis 2 INVS* Invs* 1 model Alliance of Genome Resources
nephronophthisis 3 NPHP3* Nphp3* 2 models Alliance of Genome Resources
nephronophthisis 4 NPHP4* Nphp4* 1 model Alliance of Genome Resources
nephronophthisis 7 GLIS2* Glis2* 1 model Alliance of Genome Resources
Netherton syndrome SPINK5* Spink5* 5 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a PLA2G6* Pla2g6* 4 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 6 COASY* Coasy* 1 model Alliance of Genome Resources
neurodevelopmental disorder with involuntary movements GNAO1* Gnao1* 1 model Alliance of Genome Resources
neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF2* Arhgef2* 1 model Alliance of Genome Resources
neurohypophyseal diabetes insipidus AVP* Avp* 2 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 1 PPT1* Ppt1* 3 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 10 CTSD* Ctsd* 4 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 2 TPP1* Tpp1* 4 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLN3* Cln3* 7 models Alliance of Genome Resources
neuronal ceroid lipofuscinosis 5 CLN5* Cln5* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6A CLN6* Cln6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 7 MFSD8* Mfsd8* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 CLN8* Cln8* 4 models Alliance of Genome Resources
nevoid basal cell carcinoma syndrome PTCH1* Ptch1* 4 models Alliance of Genome Resources
nevoid basal cell carcinoma syndrome SUFU* Sufu* 1 model Alliance of Genome Resources
Nijmegen breakage syndrome NBN* Nbn* 7 models Alliance of Genome Resources
Noonan syndrome 1 PTPN11* Ptpn11* 5 models Alliance of Genome Resources
Noonan syndrome 10 LZTR1* Lztr1* 1 model Alliance of Genome Resources
Noonan syndrome 3 KRAS* Kras* 1 model Alliance of Genome Resources
Noonan syndrome 4 SOS1* Sos1* 2 models Alliance of Genome Resources
Noonan syndrome 5 RAF1* Raf1* 2 models Alliance of Genome Resources
Noonan syndrome 8 RIT1* Rit1* 1 model Alliance of Genome Resources
oculocutaneous albinism TYR* Tyr* 2 models Alliance of Genome Resources
Oguchi disease-2 GRK1* Grk1* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 1 COL1A1* Col1a1* 2 models Alliance of Genome Resources
osteogenesis imperfecta type 10 SERPINH1* Serpinh1* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 2 COL1A1* Col1a1* 2 models Alliance of Genome Resources
osteogenesis imperfecta type 3 COL1A2* Col1a2* 2 models Alliance of Genome Resources
osteogenesis imperfecta type 3 COL1A1* Col1a1* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 4 COL1A1* Col1a1* 3 models Alliance of Genome Resources
osteogenesis imperfecta type 5 IFITM5* Ifitm5* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 7 CRTAP* Crtap* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 8 P3H1* P3h1* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 9 PPIB* Ppib* 2 models Alliance of Genome Resources
osteoporosis-pseudoglioma syndrome LRP5*, LRP5L Lrp5* 3 models Alliance of Genome Resources
otospondylomegaepiphyseal dysplasia, autosomal recessive COL11A2* Col11a2* 1 model Alliance of Genome Resources
pachyonychia congenita KRT16* Krt16* 1 model Alliance of Genome Resources
Pallister-Hall syndrome GLI3* Gli3* 1 model Alliance of Genome Resources
palmoplantar keratoderma-esophageal carcinoma syndrome RHBDF2* Rhbdf2* 3 models Alliance of Genome Resources
Parkinson's disease 1 SNCA* Snca* 25 models Alliance of Genome Resources
Parkinson's disease 14 PLA2G6* Pla2g6* 1 model Alliance of Genome Resources
Parkinson's disease 17 VPS35* Vps35* 1 model Alliance of Genome Resources
Parkinson's disease 2 PRKN* Prkn* 10 models Alliance of Genome Resources
Parkinson's disease 4 SNCA* Snca* 1 model Alliance of Genome Resources
Parkinson's disease 6 PINK1* Pink1* 4 models Alliance of Genome Resources
Parkinson's disease 7 PARK7* Park7* 4 models Alliance of Genome Resources
Parkinson's disease 8 LRRK2* Lrrk2* 5 models Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 1 PNKD* Pnkd* 2 models Alliance of Genome Resources
PCWH syndrome SOX10* Sox10* 1 model Alliance of Genome Resources
Pelger-Huet anomaly LBR* Lbr* 1 model Alliance of Genome Resources
Pendred Syndrome SLC26A4* Slc26a4* 4 models Alliance of Genome Resources
permanent neonatal diabetes mellitus INS* Ins2*, Ins1 1 model Alliance of Genome Resources
permanent neonatal diabetes mellitus KCNJ11* Kcnj11* 3 models Alliance of Genome Resources
Perrault syndrome CLPP* Clpp* 2 models Alliance of Genome Resources
Pfeiffer syndrome FGFR1* Fgfr1* 2 models Alliance of Genome Resources
Pfeiffer syndrome FGFR2* Fgfr2* 1 model Alliance of Genome Resources
PHARC syndrome ABHD12* Abhd12* 1 model Alliance of Genome Resources
piebaldism KIT* Kit* 1 model Alliance of Genome Resources
Pierson syndrome LAMB2* Lamb2* 2 models Alliance of Genome Resources
Pitt-Hopkins syndrome TCF4* Tcf4* 6 models Alliance of Genome Resources
platelet-type bleeding disorder 10 CD36* Cd36* 1 model Alliance of Genome Resources
platelet-type bleeding disorder 16 ITGB3* Itgb3* 1 model Alliance of Genome Resources
platelet-type bleeding disorder 16 ITGA2B* Itga2b* 1 model Alliance of Genome Resources
platelet-type bleeding disorder 8 P2RY12* P2ry12* 2 models Alliance of Genome Resources
polycystic kidney disease 1 PKD1* Pkd1* 27 models Alliance of Genome Resources
polycystic kidney disease 2 PKD2* Pkd2* 8 models Alliance of Genome Resources
polycystic kidney disease 4 PKHD1* Pkhd1* 2 models Alliance of Genome Resources
polycystic liver disease PRKCSH* Prkcsh* 1 model Alliance of Genome Resources
pontocerebellar hypoplasia type 14 PPIL1* Ppil1* 2 models Alliance of Genome Resources
popliteal pterygium syndrome IRF6* Irf6* 2 models Alliance of Genome Resources
primary autosomal recessive microcephaly 2 with or without cortical malformations WDR62* Wdr62* 1 model Alliance of Genome Resources
primary ovarian insufficiency 12 SYCE1* Syce1* 1 model Alliance of Genome Resources
primary ovarian insufficiency 13 MSH5* Msh5* 1 model Alliance of Genome Resources
primary ovarian insufficiency 19 HSF2BP* Hsf2bp* 1 model Alliance of Genome Resources
progeria LMNA* Lmna* 13 models Alliance of Genome Resources
progressive familial heart block type IA SCN5A* Scn5a* 2 models Alliance of Genome Resources
progressive myoclonus epilepsy 1B PRICKLE1* Prickle1* 1 model Alliance of Genome Resources
progressive pseudorheumatoid arthropathy of childhood CCN6* Ccn6* 3 models Alliance of Genome Resources
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome FLVCR2* Flvcr2* 1 model Alliance of Genome Resources
pseudoachondroplasia COMP* Comp* 3 models Alliance of Genome Resources
pseudoxanthoma elasticum ABCC6* Abcc6* 2 models Alliance of Genome Resources
purine nucleoside phosphorylase deficiency PNP* Pnp*, Pnp2 5 models Alliance of Genome Resources
pyridoxine-dependent epilepsy ALDH7A1* Aldh7a1* 1 model Alliance of Genome Resources
pyruvate kinase deficiency of red cells PKLR* Pklr* 2 models Alliance of Genome Resources
renal coloboma syndrome PAX2* Pax2* 6 models Alliance of Genome Resources
retinitis pigmentosa 1 RP1* Rp1* 2 models Alliance of Genome Resources
retinitis pigmentosa 11 PRPF31* Prpf31* 1 model Alliance of Genome Resources
retinitis pigmentosa 12 CRB1* Crb1* 1 model Alliance of Genome Resources
retinitis pigmentosa 13 PRPF8* Prpf8* 2 models Alliance of Genome Resources
retinitis pigmentosa 14 TULP1* Tulp1* 1 model Alliance of Genome Resources
retinitis pigmentosa 18 PRPF3* Prpf3* 2 models Alliance of Genome Resources
retinitis pigmentosa 19 ABCA4* Abca4* 2 models Alliance of Genome Resources
retinitis pigmentosa 20 RPE65* Rpe65* 1 model Alliance of Genome Resources
retinitis pigmentosa 26 CERKL* Cerkl* 1 model Alliance of Genome Resources
retinitis pigmentosa 28 FAM161A* Fam161a* 1 model Alliance of Genome Resources
retinitis pigmentosa 4 RHO* Rho* 16 models Alliance of Genome Resources
retinitis pigmentosa 40 PDE6B* Pde6b* 9 models Alliance of Genome Resources
retinitis pigmentosa 41 PROM1* Prom1* 2 models Alliance of Genome Resources
retinitis pigmentosa 56 IMPG2* Impg2* 2 models Alliance of Genome Resources
retinitis pigmentosa 59 DHDDS* Dhdds* 1 model Alliance of Genome Resources
retinitis pigmentosa 7 PRPH2* Prph2* 3 models Alliance of Genome Resources
retinitis pigmentosa 77 REEP6* Reep6* 1 model Alliance of Genome Resources
retinitis pigmentosa with or without situs inversus ARL2BP* Arl2bp* 1 model Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 1 PEX7* Pex7* 2 models Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 2 GNPAT* Gnpat* 1 model Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 3 AGPS* Agps* 1 model Alliance of Genome Resources
RIDDLE syndrome RNF168* Rnf168* 2 models Alliance of Genome Resources
rigid spine muscular dystrophy 1 SELENON* Selenon* 1 model Alliance of Genome Resources
rippling muscle disease 2 CAV3* Cav3* 3 models Alliance of Genome Resources
Rubinstein-Taybi syndrome CREBBP* Crebbp* 4 models Alliance of Genome Resources
Saethre-Chotzen syndrome TWIST1* Twist1* 8 models Alliance of Genome Resources
Sandhoff disease HEXB* Hexb* 9 models Alliance of Genome Resources
Schimke immuno-osseous dysplasia SMARCAL1* Smarcal1* 1 model Alliance of Genome Resources
Schnyder corneal dystrophy UBIAD1* Ubiad1* 2 models Alliance of Genome Resources
Schwartz-Jampel syndrome 1 HSPG2* Hspg2* 6 models Alliance of Genome Resources
sclerosteosis 1 SOST* Sost* 1 model Alliance of Genome Resources
sclerosteosis 2 LRP4* Lrp4* 2 models Alliance of Genome Resources
septooptic dysplasia HESX1* Hesx1* 3 models Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive RAG2* Rag2* 1 model Alliance of Genome Resources
severe combined immunodeficiency with sensitivity to ionizing radiation DCLRE1C* Dclre1c* 2 models Alliance of Genome Resources
short-rib thoracic dysplasia 7 with or without polydactyly WDR35* Wdr35* 1 model Alliance of Genome Resources
short-rib thoracic dysplasia 9 with or without polydactyly IFT140* Ift140* 1 model Alliance of Genome Resources
SHORT syndrome PIK3R1* Pik3r1* 1 model Alliance of Genome Resources
Silverman-Handmaker type dyssegmental dysplasia HSPG2* Hspg2* 2 models Alliance of Genome Resources
sitosterolemia ABCG8* Abcg8* 1 model Alliance of Genome Resources
Smith-McCort dysplasia DYM* Dym* 1 model Alliance of Genome Resources
Sorsby's fundus dystrophy TIMP3* Timp3* 2 models Alliance of Genome Resources
SOST-related sclerosing bone dysplasia SOST* Sost* 3 models Alliance of Genome Resources
Sotos syndrome 2 NFIX* Nfix* 1 model Alliance of Genome Resources
spermatogenic failure 19 CFAP43* Cfap43* 2 models Alliance of Genome Resources
spermatogenic failure 20 CFAP44* Cfap44* 1 model Alliance of Genome Resources
spermatogenic failure 24 CFAP69* Cfap69* 2 models Alliance of Genome Resources
spermatogenic failure 31 PMFBP1* Pmfbp1* 1 model Alliance of Genome Resources
spermatogenic failure 39 DNAH17* Dnah17* 1 model Alliance of Genome Resources
spermatogenic failure 40 CFAP65* Cfap65* 1 model Alliance of Genome Resources
spermatogenic failure 46 DNAH8* Dnah8* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 1 ATXN1* Atxn1* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 14 PRKCG* Prkcg* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 17 TBP* Tbp* 5 models Alliance of Genome Resources
spinocerebellar ataxia type 1 with axonal neuropathy TDP1* Tdp1* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 2 ATXN2* Atxn2* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 27 FGF14* Fgf14* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 28 AFG3L2* Afg3l2* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 5 SPTBN2* Sptbn2* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 6 CACNA1A* Cacna1a* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 7 ATXN7* Atxn7* 11 models Alliance of Genome Resources
split hand-foot malformation 1 DLX5* Dlx5* 1 model Alliance of Genome Resources
spondylocarpotarsal synostosis syndrome FLNB* Flnb* 2 models Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Pakistani type PAPSS2* Papss2* 1 model Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita COL2A1* Col2a1* 8 models Alliance of Genome Resources
STING-associated vasculopathy with onset in infancy STING1* Sting1* 1 model Alliance of Genome Resources
Tay-Sachs disease HEXA* Hexa* 3 models Alliance of Genome Resources
T-cell immunodeficiency, congenital alopecia, and nail dystrophy FOXN1* Foxn1* 4 models Alliance of Genome Resources
Teebi hypertelorism syndrome 1 SPECC1L* Specc1l* 2 models Alliance of Genome Resources
thiamine-responsive megaloblastic anemia syndrome SLC19A2* Slc19a2* 2 models Alliance of Genome Resources
tibial muscular dystrophy TTN* Ttn* 1 model Alliance of Genome Resources
Tietz syndrome MITF* Mitf* 14 models Alliance of Genome Resources
Timothy syndrome CACNA1C* Cacna1c* 1 model Alliance of Genome Resources
torsion dystonia 1 TOR1A* Tor1a* 7 models Alliance of Genome Resources
torsion dystonia 6 THAP1* Thap1* 2 models Alliance of Genome Resources
Townes-Brocks syndrome SALL1* Sall1* 3 models Alliance of Genome Resources
transthyretin amyloidosis TTR* Ttr* 4 models Alliance of Genome Resources
Treacher Collins syndrome TCOF1* Tcof1* 2 models Alliance of Genome Resources
trichorhinophalangeal syndrome type I TRPS1* Trps1* 1 model Alliance of Genome Resources
Troyer syndrome SPART* Spg20* 1 model Alliance of Genome Resources
tuberous sclerosis TSC1* Tsc1* 10 models Alliance of Genome Resources
tuberous sclerosis TSC2* Tsc2* 9 models Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A3* Col6a3* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A1* Col6a1* 1 model Alliance of Genome Resources
ulnar-mammary syndrome TBX3* Tbx3* 1 model Alliance of Genome Resources
urofacial syndrome HPSE2* Hpse2* 1 model Alliance of Genome Resources
Usher syndrome type 1 MYO7A* Myo7a* 13 models Alliance of Genome Resources
Usher syndrome type 1C USH1C* Ush1c* 6 models Alliance of Genome Resources
Usher syndrome type 1D CDH23* Cdh23* 11 models Alliance of Genome Resources
Usher syndrome type 1F PCDH15* Pcdh15* 3 models Alliance of Genome Resources
Usher syndrome type 1G USH1G* Ush1g* 3 models Alliance of Genome Resources
Usher syndrome type 2A USH2A* Ush2a* 1 model Alliance of Genome Resources
Usher syndrome type 2C ADGRV1* Adgrv1* 2 models Alliance of Genome Resources
Usher syndrome type 2D WHRN* Whrn* 2 models Alliance of Genome Resources
Usher syndrome type 3A CLRN1* Clrn1* 3 models Alliance of Genome Resources
vascular type Ehlers-Danlos syndrome COL3A1* Col3a1* 2 models Alliance of Genome Resources
Waardenburg syndrome type 1 PAX3* Pax3* 6 models Alliance of Genome Resources
Waardenburg syndrome type 2A MITF* Mitf* 14 models Alliance of Genome Resources
Waardenburg syndrome type 2D SNAI2* Snai2* 1 model Alliance of Genome Resources
Waardenburg syndrome type 4A EDNRB* Ednrb* 2 models Alliance of Genome Resources
Waardenburg syndrome type 4B EDN3* Edn3* 3 models Alliance of Genome Resources
Waardenburg syndrome type 4C SOX10* Sox10* 1 model Alliance of Genome Resources
Walker-Warburg syndrome POMGNT1* Pomgnt1* 2 models Alliance of Genome Resources
Warburg micro syndrome 3 RAB18* Rab18* 2 models Alliance of Genome Resources
Warburg micro syndrome 4 TBC1D20* Tbc1d20* 1 model Alliance of Genome Resources
Weaver syndrome EZH2* Ezh2* 2 models Alliance of Genome Resources
Weill-Marchesani syndrome FBN1* Fbn1* 2 models Alliance of Genome Resources
Weill-Marchesani syndrome ADAMTS10* Adamts10* 2 models Alliance of Genome Resources
Weill-Marchesani syndrome ADAMTS17* Adamts17* 1 model Alliance of Genome Resources
Werner syndrome WRN* Wrn* 3 models Alliance of Genome Resources
WHIM syndrome CXCR4* Cxcr4* 1 model Alliance of Genome Resources
Williams-Beuren syndrome EIF4H* Eif4h* 1 model Alliance of Genome Resources
Wolcott-Rallison syndrome EIF2AK3* Eif2ak3* 2 models Alliance of Genome Resources
Wolfram syndrome 1 WFS1* Wfs1* 5 models Alliance of Genome Resources
xeroderma pigmentosum group A XPA* Xpa* 2 models Alliance of Genome Resources
xeroderma pigmentosum group B ERCC3* Ercc3* 1 model Alliance of Genome Resources
xeroderma pigmentosum group C XPC* Xpc* 1 model Alliance of Genome Resources
xeroderma pigmentosum group D ERCC2* Ercc2* 1 model Alliance of Genome Resources
xeroderma pigmentosum group E DDB2* Ddb2* 4 models Alliance of Genome Resources
xeroderma pigmentosum group F ERCC4* Ercc4* 1 model Alliance of Genome Resources
xeroderma pigmentosum group G ERCC5* Ercc5* 4 models Alliance of Genome Resources
xeroderma pigmentosum variant type POLH* Polh* 3 models Alliance of Genome Resources
Yunis-Varon syndrome FIG4* Fig4* 1 model Alliance of Genome Resources
     abdominal obesity-metabolic syndrome SLC2A9 Slc2a9* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome SIRT3 Sirt3* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome PRKCI Prkci* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome CTF1 Ctf1* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome GUCY2C Gucy2c* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome LEP Lep* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome NEIL1 Neil1* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome PPARG Pparg* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome 1 TP53INP1 Trp53inp1* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome 1 LEP Lep* 3 models Alliance of Genome Resources
age related macular degeneration CCL2, CCL13 Ccl2*, Ccl12 3 models Alliance of Genome Resources
age related macular degeneration PPARGC1A Ppargc1a* 1 model Alliance of Genome Resources
age related macular degeneration MDM1 Mdm1* 1 model Alliance of Genome Resources
age related macular degeneration CD46 Cd46* 1 model Alliance of Genome Resources
age related macular degeneration CCR2 Ccr2* 1 model Alliance of Genome Resources
age related macular degeneration 1 CRYBA1 Cryba1* 1 model Alliance of Genome Resources
age related macular degeneration 1 VLDLR Vldlr* 1 model Alliance of Genome Resources
ARC syndrome VIPAS39 Vipas39* 1 model Alliance of Genome Resources
ARC syndrome VPS33B Vps33b* 1 model Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 5 RPSA Rpsa* 1 model Alliance of Genome Resources
asphyxiating thoracic dystrophy 1 IFT140 Ift140* 1 model Alliance of Genome Resources
asphyxiating thoracic dystrophy 3 IFT80 Ift80* 1 model Alliance of Genome Resources
atrichia with papular lesions ODC1 Odc1* 1 model Alliance of Genome Resources
autosomal dominant disease FGFR3 Fgfr3* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder ZBTB18 Zbtb18* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder AUTS2 Auts2* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder MBD5 Mbd5* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 25 TRPV4 Trpv4* 1 model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4A CEACAM16 Ceacam16* 1 model Alliance of Genome Resources
autosomal dominant polycystic kidney disease BICC1 Bicc1* 1 model Alliance of Genome Resources
autosomal dominant polycystic kidney disease MYC Myc*, Bmyc 1 model Alliance of Genome Resources
autosomal dominant polycystic kidney disease NPHP3 Nphp3* 3 models Alliance of Genome Resources
autosomal recessive Alport syndrome MPV17 Mpv17* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PRSS8 Prss8* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PIGA Piga* 2 models Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B CST6 Cst6* 1 model Alliance of Genome Resources
autosomal recessive disease PPP1R13L Ppp1r13l* 1 model Alliance of Genome Resources
autosomal recessive hypophosphatemic rickets DMP1 Dmp1* 1 model Alliance of Genome Resources
autosomal recessive intellectual developmental disorder CRBN Crbn* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness ATP6V1B1 Atp6v1b1* 1 model Alliance of Genome Resources
autosomal recessive osteopetrosis 1 CCDC154 Ccdc154* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease NEK1 Nek1* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease PKD1 Pkd1* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease NEK8 Nek8* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease IFT88 Ift88* 4 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease DZIP1L Dzip1l* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease CYS1 Cys1* 5 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease BICC1 Bicc1* 6 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease ARL3 Arl3* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease SCLT1 Sclt1* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease TSC1 Tsc1* 1 model Alliance of Genome Resources
autosomal recessive Robinow syndrome PRICKLE1 Prickle1* 2 models Alliance of Genome Resources
Axenfeld-Rieger syndrome type 1 HMGN2 Hmgn2*, Hmgn2-ps 1 model Alliance of Genome Resources
Axenfeld-Rieger syndrome type 3 BMP4 Bmp4* 1 model Alliance of Genome Resources
Bardet-Biedl syndrome TBC1D32 Tbc1d32* 1 model Alliance of Genome Resources
beta thalassemia KLF1 Klf1* 1 model Alliance of Genome Resources
blepharophimosis, ptosis, and epicanthus inversus syndrome E330023G01Rik* 1 model
Bloom syndrome NSMCE2 Nsmce2* 1 model Alliance of Genome Resources
Canavan disease SOD2 Sod2* 1 model Alliance of Genome Resources
cataract 2 multiple types CRYGD Crygd*, Cryge, Crygf 1 model Alliance of Genome Resources
central conducting lymphatic anomaly MDFIC Mdfic* 1 model Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia ANKFY1 Ankfy1* 1 model Alliance of Genome Resources
cleidocranial dysplasia CEBPB Cebpb* 1 model Alliance of Genome Resources
cleidocranial dysplasia Ccd* 2 models
cleidocranial dysplasia RNF146 Rnf146* 1 model Alliance of Genome Resources
Coffin-Siris syndrome ARID1A Arid1a* 2 models Alliance of Genome Resources
common variable immunodeficiency NFKB2 Nfkb2* 3 models Alliance of Genome Resources
common variable immunodeficiency ICOS Icos* 2 models Alliance of Genome Resources
congenital central hypoventilation syndrome TLX3 Tlx3* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 2 PPARG Pparg* 2 models Alliance of Genome Resources
cystic fibrosis SCNN1B Scnn1b* 1 model Alliance of Genome Resources
DiGeorge syndrome CHRD Chrd* 1 model Alliance of Genome Resources
DiGeorge syndrome VEGFA Vegfa* 2 models Alliance of Genome Resources
DiGeorge syndrome TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
DiGeorge syndrome pta* 1 model
DiGeorge syndrome PLXND1 Plxnd1* 2 models Alliance of Genome Resources
DiGeorge syndrome NDST1 Ndst1* 1 model Alliance of Genome Resources
DiGeorge syndrome KAT6A Kat6a* 2 models Alliance of Genome Resources
DiGeorge syndrome HOXA3 Hoxa3* 1 model Alliance of Genome Resources
DiGeorge syndrome FOXN1 Foxn1* 1 model Alliance of Genome Resources
DiGeorge syndrome FGF8 Fgf8* 1 model Alliance of Genome Resources
DiGeorge syndrome DOCK1 Dock1* 1 model Alliance of Genome Resources
DiGeorge syndrome DICER1 Dicer1* 1 model Alliance of Genome Resources
DiGeorge syndrome CRKL Crkl* 1 model Alliance of Genome Resources
DiGeorge syndrome ALDH1A2 Aldh1a2* 1 model Alliance of Genome Resources
DiGeorge syndrome b2b954Clo* 1 model
DiGeorge syndrome b2b1941Clo* 1 model
DiGeorge syndrome b2b2696Clo* 1 model
DiGeorge syndrome ZNF366 Zfp366* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1A DOT1L Dot1l* 1 model Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1 LUM Lum* 2 models Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1 COL5A2 Col5a2* 1 model Alliance of Genome Resources
enhanced S-cone syndrome NRL Nrl* 1 model Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type KRT14 Krt14* 3 models Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type KRT5 Krt5* 1 model Alliance of Genome Resources
familial adenomatous polyposis APC Apc* 10 models Alliance of Genome Resources
fibrodysplasia ossificans progressiva BMP4 Bmp4* 1 model Alliance of Genome Resources
Fraser syndrome FREM2 Frem2* 6 models Alliance of Genome Resources
Fraser syndrome GRIP1 Grip1* 2 models Alliance of Genome Resources
Fraser syndrome FREM1 Frem1* 4 models Alliance of Genome Resources
Fraser syndrome FRAS1 Fras1* 5 models Alliance of Genome Resources
Gitelman syndrome WNK4 Wnk4* 1 model Alliance of Genome Resources
Gitelman syndrome STK39 Stk39* 3 models Alliance of Genome Resources
glycogen storage disease V HIF1A Hif1a* 1 model Alliance of Genome Resources
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions TARDBP Tardbp* 7 models Alliance of Genome Resources
hereditary multiple exostoses EXT2 Ext2* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 SPTA1 Spta1* 3 models Alliance of Genome Resources
hereditary spherocytosis type 1 EPB42 Epb42* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 ADD2 Add2* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome VPS33A Vps33a* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome BLOC1S4 Bloc1s4* 2 models Alliance of Genome Resources
Hermansky-Pudlak syndrome KXD1 Kxd1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome RABGGTA Rabggta* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome SLC7A11 Slc7a11* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 1 AP3D1 Ap3d1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 1 RAB27A Rab27a* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 2 AP3D1 Ap3d1* 1 model Alliance of Genome Resources
Holt-Oram syndrome vsd* 2 models
hydrolethalus syndrome KIF7 Kif7* 1 model Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis GALNT3 Galnt3* 2 models Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis KL Kl* 2 models Alliance of Genome Resources
hypotrichosis 4 HR Hr* 1 model Alliance of Genome Resources
ichthyosis vulgaris LBR Lbr* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type LAMB3 Lamb3* 2 models Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type LAMC2 Lamc2* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type ITGA6 Itga6* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type ITGB4 Itgb4* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMB3 Lamb3* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMC2 Lamc2* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMA3 Lama3* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type COL17A1 Col17a1* 1 model Alliance of Genome Resources
juvenile glaucoma PAX6 Pax6* 1 model Alliance of Genome Resources
lethal restrictive dermopathy FST Fst* 2 models Alliance of Genome Resources
lethal restrictive dermopathy SLC27A4 Slc27a4* 2 models Alliance of Genome Resources
leukocyte adhesion deficiency 3 RASGRP2 Rasgrp2* 1 model Alliance of Genome Resources
Loeys-Dietz syndrome TGFB2 Tgfb2* 2 models Alliance of Genome Resources
Loeys-Dietz syndrome TGFBR1 Tgfbr1* 1 model Alliance of Genome Resources
Loeys-Dietz syndrome TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young MAFA Mafa* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young INS Ins2*, Ins1 3 models Alliance of Genome Resources
maturity-onset diabetes of the young PDX1 Pdx1* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young TGM2 Tgm2* 1 model Alliance of Genome Resources
microvillus inclusion disease CDC42 Cdc42* 1 model Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome YWHAE Ywhae* 2 models Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome PAFAH1B1 Pafah1b1* 5 models Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome DPH1 Dph1* 3 models Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome HIC1 Hic1* 1 model Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome MNT Mnt* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 MPV17 Mpv17* 1 model Alliance of Genome Resources
Muir-Torre syndrome FHIT Fhit* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 POMGNT1 Pomgnt1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKRP Fkrp* 2 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKTN Fktn* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 LARGE1 Large1* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 POMT1 Pomt1* 1 model Alliance of Genome Resources
myofibrillar myopathy 1 LDB3 Ldb3* 1 model Alliance of Genome Resources
nail-patella syndrome LDB1 Ldb1* 1 model Alliance of Genome Resources
nephronophthisis CNTRL Cntrl* 1 model Alliance of Genome Resources
nephronophthisis SDCCAG8 Sdccag8* 1 model Alliance of Genome Resources
nephronophthisis WWTR1 Wwtr1* 1 model Alliance of Genome Resources
nephronophthisis AHI1 Ahi1* 2 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a gnd* 1 model
neurodegeneration with brain iron accumulation 2a nad* 1 model
neurodegeneration with brain iron accumulation 2a inad* 1 model
neurofibromatosis NF2 Nf2* 1 model Alliance of Genome Resources
neurofibromatosis NF1 Nf1* 17 models Alliance of Genome Resources
neurogenic-type arthrogryposis multiplex congenita-2 pma* 1 model
neuronal ceroid lipofuscinosis 3 CLCN6 Clcn6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 PPT1 Ppt1* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN3 Clcn3* 1 model Alliance of Genome Resources
nevoid basal cell carcinoma syndrome SHH Shh* 1 model Alliance of Genome Resources
Noonan syndrome with multiple lentigines PTPN11 Ptpn11* 4 models Alliance of Genome Resources
ocular albinism with sensorineural deafness MITF Mitf* 14 models Alliance of Genome Resources
oculocutaneous albinism SLC45A2 Slc45a2* 7 models Alliance of Genome Resources
oculocutaneous albinism OCA2 Oca2* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 2 SMPD3 Smpd3* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 3 SMPD3 Smpd3* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 5 SUCO Suco* 1 model Alliance of Genome Resources
PCWH syndrome MPZ Mpz* 1 model Alliance of Genome Resources
Pendred Syndrome FOXI1 Foxi1* 1 model Alliance of Genome Resources
Pierson syndrome TNS2 Tns2* 1 model Alliance of Genome Resources
polycystic liver disease UCP2 Ucp2* 1 model Alliance of Genome Resources
popliteal pterygium syndrome RIPK4 Ripk4* 1 model Alliance of Genome Resources
progeria ZMPSTE24 Zmpste24* 3 models Alliance of Genome Resources
progeria VCPIP1 Vcpip1* 1 model Alliance of Genome Resources
progeria SIRT6 Sirt6* 1 model Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa GRIP1 Grip1* 1 model Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa COL7A1