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
adrenoleukodystrophy ABCD1* Abcd1* 9 models Alliance of Genome Resources
adult hypophosphatasia ALPL* Alpl* 9 models Alliance of Genome Resources
adult-onset autosomal dominant demyelinating leukodystrophy LMNB1* Lmnb1* 1 model Alliance of Genome Resources
advanced sleep phase syndrome 1 PER2* Per2* 1 model 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 ADAR* Adar* 3 models Alliance of Genome Resources
Aicardi-Goutieres syndrome TREX1* Trex1* 1 model Alliance of Genome Resources
alacrima, achalasia, and impaired intellectual development syndrome GMPPA* Gmppa* 1 model Alliance of Genome Resources
Alexander disease GFAP* Gfap* 4 models Alliance of Genome Resources
Allan-Herndon-Dudley syndrome SLC16A2* Slc16a2* 1 model 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* 6 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 1E AMELX*, AMELY Amelx* 6 models Alliance of Genome Resources
amelogenesis imperfecta type 3C RELT* Relt* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 SOD1* Sod1* 2 models Alliance of Genome Resources
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome TP63* Trp63* 1 model Alliance of Genome Resources
ankyrin-B-related cardiac arrhythmia ANK2* Ank2* 1 model Alliance of Genome Resources
anterior segment dysgenesis PITX3* Pitx3* 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* 4 models 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 interstitial lung, joint, and kidney disease COPA* Copa* 1 model 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 distal hereditary motor neuronopathy 2 HSPB8* Hspb8* 1 model 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* 2 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* 1 model 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 distal hereditary motor neuronopathy 1 IGHMBP2* Ighmbp2* 2 models Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 41 KPTN* Kptn* 1 model 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* 3 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 Robinow syndrome ROR2* Ror2* 2 models Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 12 WWOX* Wwox* 1 model 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* 6 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* 2 models 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 3 ARL6* Arl6* 1 model 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
Barth syndrome TAFAZZIN* Tafazzin* 3 models Alliance of Genome Resources
Bartter disease type 1 SLC12A1* Slc12a1* 2 models Alliance of Genome Resources
Bartter disease type 2 KCNJ1* Kcnj1* 1 model Alliance of Genome Resources
Bartter disease type 3 CLCNKB*, CLCNKA Clcnkb*, Clcnka 1 model Alliance of Genome Resources
Bartter disease type 4a BSND* Bsnd* 2 models 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 17 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
blue cone monochromacy OPN1LW*, OPN1MW*, OPN1MW2, OPN1MW3 Opn1mw* 1 model Alliance of Genome Resources
Borjeson-Forssman-Lehmann syndrome PHF6* Phf6* 2 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 SIX1* Six1* 1 model Alliance of Genome Resources
branchiootorenal syndrome EYA1* Eya1* 4 models 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
Brunner Syndrome MAOA* Maoa* 2 models Alliance of Genome Resources
bullous congenital ichthyosiform erythroderma KRT2* Krt2* 2 models Alliance of Genome Resources
buphthalmos CYP1B1* Cyp1b1* 4 models Alliance of Genome Resources
CADASIL 1 NOTCH3* Notch3* 6 models Alliance of Genome Resources
campomelic dysplasia SOX9* Sox9* 9 models Alliance of Genome Resources
Canavan disease ASPA* Aspa* 5 models Alliance of Genome Resources
carbamoyl phosphate synthetase I deficiency disease CPS1* Cps1* 1 model Alliance of Genome Resources
cardiofaciocutaneous syndrome BRAF* Braf* 6 models Alliance of Genome Resources
Carney complex PRKAR1A* Prkar1a* 4 models Alliance of Genome Resources
cataract TRPM3* Trpm3* 2 models Alliance of Genome Resources
cataract PAX6* Pax6* 1 model Alliance of Genome Resources
cataract PANK4* Pank4* 1 model Alliance of Genome Resources
cataract LSS* Lss* 1 model Alliance of Genome Resources
cataract LIM2* Lim2* 1 model 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* 2 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
catecholaminergic polymorphic ventricular tachycardia 1 RYR2* Ryr2* 10 models Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia 2 CASQ2* Casq2* 4 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 precocious puberty 2 MKRN3* Mkrn3* 1 model Alliance of Genome Resources
cerebellar ataxia type 42 CACNA1G* Cacna1g* 2 models Alliance of Genome Resources
cerebrocostomandibular syndrome SNRPB* Snrpb* 1 model 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 axonal type 2S IGHMBP2* Ighmbp2* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2Z MORC2* Morc2a*, Morc2b 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate C YARS1* Yars1* 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* 6 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* 1 model 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* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B RAB7A* Rab7* 1 model 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* Gars1* 4 models Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2E NEFL* Nefl* 1 model 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* 2 models 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
Charcot-Marie-Tooth disease X-linked dominant 1 GJB1* Gjb1* 4 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
Christianson syndrome SLC9A6* Slc9a6* 3 models 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 ERCC6* Ercc6* 4 models Alliance of Genome Resources
Cockayne syndrome ERCC8* Ercc8* 2 models Alliance of Genome Resources
Coffin-Lowry syndrome RPS6KA3* Rps6ka3* 5 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 4 TUBG1* Tubg1* 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
cone-rod dystrophy 16 CFAP418* Cfap418* 1 model Alliance of Genome Resources
cone-rod dystrophy 18 RAB28* Rab28* 2 models Alliance of Genome Resources
cone-rod dystrophy 2 CRX* Crx* 2 models Alliance of Genome Resources
cone-rod dystrophy 3 ABCA4* Abca4* 2 models Alliance of Genome Resources
cone-rod dystrophy 6 GUCY2D* Gucy2e* 1 model Alliance of Genome Resources
cone-rod dystrophy 9 ADAM9* Adam9* 1 model Alliance of Genome Resources
congenital afibrinogenemia FGG* Fgg* 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* 2 models 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 myopathy 1A RYR1* Ryr1* 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 1A NYX* Nyx* 1 model Alliance of Genome Resources
congenital stationary night blindness 1B GRM6* Grm6* 2 models Alliance of Genome Resources
congenital stationary night blindness 1C TRPM1* Trpm1* 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 2A CACNA1F* Cacna1f* 12 models 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
Cornelia de Lange syndrome 1 NIPBL* Nipbl* 2 models Alliance of Genome Resources
Cornelia de Lange syndrome 3 SMC3* Smc3* 1 model Alliance of Genome Resources
Cornelia de Lange syndrome 5 HDAC8* Hdac8* 1 model Alliance of Genome Resources
cortical dysplasia-focal epilepsy syndrome CNTNAP2* Cntnap2* 1 model Alliance of Genome Resources
corticosteroid-binding globulin deficiency SERPINA6* Serpina6* 2 models 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
craniofrontonasal syndrome EFNB1* Efnb1* 1 model 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
Danon disease LAMP2* Lamp2* 3 models 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 14 KCNT1* Kcnt1* 2 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 2 CDKL5* Cdkl5* 2 models Alliance of Genome Resources
developmental and epileptic encephalopathy 39 SLC25A12* Slc25a12* 1 model Alliance of Genome Resources
developmental and epileptic encephalopathy 54 HNRNPU* Hnrnpu* 1 model Alliance of Genome Resources
developmental and epileptic encephalopathy 7 KCNQ2* Kcnq2* 1 model Alliance of Genome Resources
Diamond-Blackfan anemia 6 RPL5* Rpl5* 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* 23 models Alliance of Genome Resources
dilated cardiomyopathy 1A LMNA* Lmna* 4 models Alliance of Genome Resources
dilated cardiomyopathy 1C LDB3* Ldb3* 2 models Alliance of Genome Resources
dilated cardiomyopathy 1CC NEXN* Nexn* 4 models Alliance of Genome Resources
dilated cardiomyopathy 1D TNNT2* Tnnt2* 3 models Alliance of Genome Resources
dilated cardiomyopathy 1DD RBM20* Rbm20* 3 models Alliance of Genome Resources
dilated cardiomyopathy 1EE MYH6* Myh6* 2 models Alliance of Genome Resources
dilated cardiomyopathy 1G TTN* Ttn* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1HH BAG3* Bag3* 2 models Alliance of Genome Resources
dilated cardiomyopathy 1I DES* Des* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1L SGCD* Sgcd* 4 models Alliance of Genome Resources
dilated cardiomyopathy 1M CSRP3* Csrp3* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1R ACTC1* Actc1* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1Y TPM1* Tpm1* 2 models Alliance of Genome Resources
dilated cardiomyopathy 2F BAG5* Bag5* 1 model Alliance of Genome Resources
diphthamide deficiency syndrome 1 DPH1* Dph1* 1 model 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
Duchenne muscular dystrophy DMD* Dmd* 30 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 EVC2* Evc2* 1 model Alliance of Genome Resources
Ellis-Van Creveld syndrome EVC* Evc* 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
erythrokeratodermia variabilis GJB3* Gjb3* 1 model Alliance of Genome Resources
factor VIII deficiency F8* F8* 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* 1 model 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 hyperinsulinemic hypoglycemia 3 GCK* Gck* 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* 5 models Alliance of Genome Resources
fibular hypoplasia and complex brachydactyly GDF5* Gdf5* 1 model Alliance of Genome Resources
focal dermal hypoplasia PORCN* Porcn* 14 models 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
foveal hypoplasia 2 SLC38A8* Slc38a8* 1 model Alliance of Genome Resources
fragile X-associated tremor/ataxia syndrome FMR1* Fmr1* 1 model Alliance of Genome Resources
fragile X syndrome FMR1* Fmr1* 10 models Alliance of Genome Resources
Friedreich ataxia FXN* Fxn* 8 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
GAND syndrome GATAD2B* Gatad2b* 1 model 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* 2 models Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 1 SLC2A1* Slc2a1* 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
glycine encephalopathy GLDC* Gldc* 1 model Alliance of Genome Resources
glycogen storage disease Ia G6PC1* G6pc1* 5 models Alliance of Genome Resources
glycogen storage disease II GAA* Gaa* 5 models Alliance of Genome Resources
glycogen storage disease III AGL* Agl* 2 models Alliance of Genome Resources
glycogen storage disease IV GBE1* Gbe1* 4 models Alliance of Genome Resources
glycogen storage disease IXd PHKA1* Phka1* 2 models Alliance of Genome Resources
glycogen storage disease V PYGM* Pygm* 1 model Alliance of Genome Resources
glycogen storage disease VI PYGL* Pygl* 1 model Alliance of Genome Resources
glycogen storage disease VII PFKM* Pfkm* 1 model Alliance of Genome Resources
glycogen storage disease XV GYG1* Gyg1* 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* 2 models 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
hemophilia B F9* F9* 5 models Alliance of Genome Resources
hereditary hemorrhagic telangiectasia ENG* Eng* 6 models Alliance of Genome Resources
hereditary hemorrhagic telangiectasia ACVRL1* Acvrl1* 5 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 2 PLP1* Plp1* 2 models 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* 3 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 spastic paraplegia 80 UBAP1* Ubap1* 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
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
high myopia-sensorineural deafness syndrome SLITRK6* Slitrk6* 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* 4 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
hypochondroplasia FGFR3* Fgfr3* 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
IGSF1 deficiency syndrome IGSF1* Igsf1* 1 model Alliance of Genome Resources
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome FOXP3* Foxp3* 2 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
immunodeficiency with hyper-IgM type 2 AICDA* Aicda* 1 model Alliance of Genome Resources
infantile hypophosphatasia ALPL* Alpl* 3 models Alliance of Genome Resources
inflammatory bowel disease 10 ATG16L1* Atg16l1* 2 models Alliance of Genome Resources
inflammatory bowel disease 13 ABCB1* Abcb1a*, Abcb1b 1 model Alliance of Genome Resources
isolated microphthalmia 6 PRSS56* Prss56* 3 models Alliance of Genome Resources
isolated mitochondrial myopathy CHCHD10* Chchd10* 1 model Alliance of Genome Resources
Johanson-Blizzard syndrome UBR1* Ubr1* 1 model Alliance of Genome Resources
Joubert syndrome 17 CPLANE1* Cplane1* 1 model Alliance of Genome Resources
Joubert syndrome 26 KATNIP* Katnip* 1 model Alliance of Genome Resources
Joubert syndrome 3 AHI1* Ahi1* 1 model Alliance of Genome Resources
Joubert syndrome 5 CEP290* Cep290* 2 models Alliance of Genome Resources
Joubert syndrome 6 TMEM67* Tmem67* 1 model Alliance of Genome Resources
Joubert syndrome 7 RPGRIP1L* Rpgrip1l* 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
Kartagener syndrome DNAH11* Dnah11* 2 models Alliance of Genome Resources
Kartagener syndrome DNAH5* Dnah5* 12 models Alliance of Genome Resources
Kartagener syndrome DNAI1* Dnai1* 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
Kohlschutter-Tonz syndrome ROGDI* Rogdi* 1 model Alliance of Genome Resources
Koolen de Vries syndrome KANSL1* Kansl1* 1 model Alliance of Genome Resources
Kufor-Rakeb syndrome ATP13A2* Atp13a2* 1 model 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 10 CEP290* Cep290* 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 3 SPATA7* Spata7* 2 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 7 CRX* Crx* 4 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
Lesch-Nyhan syndrome HPRT1* Hprt1* 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
leukoencephalopathy with vanishing white matter EIF2B5* Eif2b5* 7 models Alliance of Genome Resources
Li-Fraumeni syndrome TP53* Trp53* 8 models Alliance of Genome Resources
long QT syndrome 1 KCNQ1* Kcnq1* 1 model 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
mal de Meleda SLURP1* Slurp1* 2 models Alliance of Genome Resources
malignant hyperthermia RYR1* Ryr1* 5 models Alliance of Genome Resources
Marsili syndrome ZFHX2* Zfhx2* 2 models Alliance of Genome Resources
MASA syndrome L1CAM* L1cam* 1 model 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* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young type 4 PDX1* Pdx1* 1 model Alliance of Genome Resources
Meckel syndrome B9D1* B9d1* 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
methylmalonic acidemia and homocysteinemia cblX type HCFC1* Hcfc1* 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 B1 POMT1* Pomt1* 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
Nance-Horan syndrome NHS* Nhs* 3 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* 2 models Alliance of Genome Resources
nemaline myopathy 5A 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 5 WDR45* Wdr45* 2 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 6 COASY* Coasy* 1 model Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies BPTF* Bptf* 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
neurofibromatosis 1 NF1* Nf1* 17 models 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
Nijmegen breakage syndrome NBN* Nbn* 7 models Alliance of Genome Resources
non-syndromic X-linked intellectual developmental disorder 111 SLITRK2* Slitrk2* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability GDI1* Gdi1* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability 30 PAK3* Pak3* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability 72 RAB39B* Rab39b* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability 9 FTSJ1* Ftsj1* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability 98 NEXMIF* Nexmif* 1 model Alliance of Genome Resources
Noonan syndrome 1 PTPN11* Ptpn11* 3 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
Norrie disease NDP* Ndp* 2 models Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 20 ACAD9* Acad9* 2 models 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
Opitz GBBB syndrome MID1* Mid1* 1 model Alliance of Genome Resources
orofaciodigital syndrome I OFD1* Ofd1* 2 models Alliance of Genome Resources
osteogenesis imperfecta type 1 COL1A1* Col1a1* 1 model 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 COL1A1* Col1a1* 1 model Alliance of Genome Resources
osteogenesis imperfecta type 3 COL1A2* Col1a2* 2 models 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 6 SERPINF1* Serpinf1* 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* 6 models Alliance of Genome Resources
Parkinson's disease 14 PLA2G6* Pla2g6* 1 model Alliance of Genome Resources
Parkinson's disease 17 VPS35* Vps35* 2 models Alliance of Genome Resources
Parkinson's disease 2 PRKN* Prkn* 9 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* 1 model 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
Pelizaeus-Merzbacher disease PLP1* Plp1* 8 models 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
peroxisomal acyl-CoA oxidase deficiency ACOX1* Acox1* 1 model Alliance of Genome Resources
Perrault syndrome CLPP* Clpp* 2 models Alliance of Genome Resources
Pfeiffer syndrome FGFR2* Fgfr2* 1 model Alliance of Genome Resources
Pfeiffer syndrome FGFR1* Fgfr1* 2 models Alliance of Genome Resources
PHARC syndrome ABHD12* Abhd12* 1 model Alliance of Genome Resources
piebaldism KIT* Kit* 1 model Alliance of Genome Resources
Pierpont syndrome TBL1XR1* Tbl1xr1* 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 ITGA2B* Itga2b* 1 model Alliance of Genome Resources
platelet-type bleeding disorder 16 ITGB3* Itgb3* 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* 7 models Alliance of Genome Resources
polycystic kidney disease 4 PKHD1* Pkhd1* 2 models Alliance of Genome Resources
pontocerebellar hypoplasia type 14 PPIL1* Ppil1* 2 models Alliance of Genome Resources
poor metabolism of thiopurines TPMT* Tpmt* 1 model 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 ciliary dyskinesia DAW1* Daw1* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 1 DNAI1* Dnai1* 3 models Alliance of Genome Resources
primary ciliary dyskinesia 10 DNAAF2* Dnaaf2* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 14 CCDC39* Ccdc39* 3 models Alliance of Genome Resources
primary ciliary dyskinesia 19 DNAAF11* Dnaaf11* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 2 DNAAF3* Dnaaf3* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 21 DRC1* Drc1* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 22 ZMYND10* Zmynd10* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 23 ODAD2* Odad2* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 25 DNAAF4* Dnaaf4* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 3 DNAH5* Dnah5* 14 models Alliance of Genome Resources
primary ciliary dyskinesia 30 ODAD3* Odad3* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 33 GAS8* Gas8* 2 models Alliance of Genome Resources
primary ciliary dyskinesia 35 ODAD4* Odad4* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 7 DNAH11* Dnah11* 8 models 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* 14 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* 2 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
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
Renpenning syndrome PQBP1* Pqbp1* 1 model 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 2 RP2* Rp2* 4 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* 13 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
scalp-ear-nipple syndrome KCTD1* Kctd1* 2 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
Simpson-Golabi-Behmel syndrome type 1 GPC3* Gpc3* 8 models Alliance of Genome Resources
sitosterolemia 1 ABCG8* Abcg8* 1 model Alliance of Genome Resources
Smith-McCort dysplasia 2 RAB33B* Rab33b* 2 models Alliance of Genome Resources
Sorsby's fundus dystrophy TIMP3* Timp3* 2 models Alliance of Genome Resources
Sotos syndrome 2 NFIX* Nfix* 1 model Alliance of Genome Resources
spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC1A4* Slc1a4* 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
spermatogenic failure 47 DZIP1* Dzip1* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 1 ATXN1* Atxn1* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 14 PRKCG* Prkcg* 2 models Alliance of Genome Resources
spinocerebellar ataxia type 17 TBP* Tbp* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 2 ATXN2* Atxn2* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 28 AFG3L2* Afg3l2* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 5 SPTBN2* Sptbn2* 2 models Alliance of Genome Resources
spinocerebellar ataxia type 6 CACNA1A* Cacna1a* 3 models Alliance of Genome Resources
spinocerebellar ataxia type 7 ATXN7* Atxn7* 5 models Alliance of Genome Resources
spinocerebellar ataxia with axonal neuropathy 1 TDP1* Tdp1* 1 model Alliance of Genome Resources
split hand-foot malformation 1 DLX5* Dlx5* 2 models 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* 7 models Alliance of Genome Resources
STING-associated vasculopathy with onset in infancy STING1* Sting1* 1 model Alliance of Genome Resources
Stormorken syndrome STIM1* Stim1* 1 model Alliance of Genome Resources
syndromic microphthalmia 2 BCOR*, BCORP1 Bcor* 1 model Alliance of Genome Resources
syndromic X-linked intellectual developmental disorder bain type HNRNPH2* Hnrnph2* 3 models Alliance of Genome Resources
syndromic X-linked intellectual disability 5 AP1S2* Ap1s2* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Claes-Jensen type KDM5C* Kdm5c* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Raymond type ZDHHC9* Zdhhc9* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Siderius type PHF8* Phf8* 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
TNF receptor associated periodic syndrome TNFRSF1A* Tnfrsf1a* 3 models Alliance of Genome Resources
torsion dystonia 1 TOR1A* Tor1a* 4 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* Spart* 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
tubular aggregate myopathy 1 STIM1* Stim1* 2 models 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* 3 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
vestibular schwannomatosis NF2* Nf2* 1 model 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 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* 2 models Alliance of Genome Resources
Weaver syndrome EZH2* Ezh2* 3 models Alliance of Genome Resources
Weill-Marchesani syndrome ADAMTS10* Adamts10* 2 models Alliance of Genome Resources
Weill-Marchesani syndrome FBN1* Fbn1* 2 models Alliance of Genome Resources
Weill-Marchesani syndrome ADAMTS17* Adamts17* 1 model Alliance of Genome Resources
Werner syndrome WRN* Wrn* 2 models Alliance of Genome Resources
WHIM syndrome 1 CXCR4* Cxcr4* 1 model Alliance of Genome Resources
Williams-Beuren syndrome EIF4H* Eif4h* 3 models Alliance of Genome Resources
Wiskott-Aldrich syndrome WAS* Was* 2 models Alliance of Genome Resources
Wolcott-Rallison syndrome EIF2AK3* Eif2ak3* 2 models Alliance of Genome Resources
Wolfram syndrome 1 WFS1* Wfs1* 6 models Alliance of Genome Resources
Wolman disease LIPA* Lipa* 1 model Alliance of Genome Resources
xanthinuria type II MOCOS* Mocos* 1 model 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
Xia-Gibbs Syndrome AHDC1* Ahdc1* 1 model Alliance of Genome Resources
X-linked adrenal hypoplasia congenita NR0B1* Nr0b1* 1 model Alliance of Genome Resources
X-linked agammaglobulinemia BTK* Btk* 8 models Alliance of Genome Resources
X-linked Alport syndrome COL4A5* Col4a5* 3 models Alliance of Genome Resources
X-linked cleft palate with or without ankyloglossia TBX22* Tbx22* 2 models Alliance of Genome Resources
X-linked cone-rod dystrophy 1 RPGR* Rpgr* 2 models Alliance of Genome Resources
X-linked deafness 4 SMPX* Smpx* 6 models Alliance of Genome Resources
X-linked distal spinal muscular atrophy 3 ATP7A* Atp7a* 2 models Alliance of Genome Resources
X-linked dominant hypophosphatemic rickets PHEX* Phex* 20 models Alliance of Genome Resources
X-linked intellectual disability-short stature-overweight syndrome THOC2* Thoc2*, Thoc2l 1 model Alliance of Genome Resources
X-linked juvenile retinoschisis 1 RS1* Rs1* 8 models Alliance of Genome Resources
X-linked lymphoproliferative syndrome 1 SH2D1A* Sh2d1a* 7 models Alliance of Genome Resources
X-linked nephrogenic diabetes insipidus AVPR2* Avpr2* 1 model Alliance of Genome Resources
Yunis-Varon syndrome FIG4* Fig4* 1 model Alliance of Genome Resources
Zaki syndrome WLS* Wls* 2 models Alliance of Genome Resources
     abdominal obesity-metabolic syndrome PPARG Pparg* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome LEP Lep* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome GUCY2C Gucy2c* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome CTF1 Ctf1* 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 SLC2A9 Slc2a9* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome NEIL1 Neil1* 1 model Alliance of Genome Resources
abdominal obesity-metabolic syndrome 1 LEP Lep* 3 models Alliance of Genome Resources
abdominal obesity-metabolic syndrome 1 TP53INP1 Trp53inp1* 1 model Alliance of Genome Resources
age related macular degeneration CCR2 Ccr2* 1 model Alliance of Genome Resources
age related macular degeneration CCL2, CCL13 Ccl2*, Ccl12 3 models Alliance of Genome Resources
age related macular degeneration CD46 Cd46* 1 model Alliance of Genome Resources
age related macular degeneration PPARGC1A Ppargc1a* 1 model Alliance of Genome Resources
age related macular degeneration 1 VLDLR Vldlr* 1 model Alliance of Genome Resources
age related macular degeneration 1 CRYBA1 Cryba1* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 VPS54 Vps54* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 VEGFA Vegfa* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 SOD2 Sod2* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 SNCG Sncg* 1 model Alliance of Genome Resources
anterior segment dysgenesis TSC1 Tsc1* 1 model Alliance of Genome Resources
ARC syndrome VPS33B Vps33b* 1 model Alliance of Genome Resources
ARC syndrome VIPAS39 Vipas39* 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 MBD5 Mbd5* 1 model Alliance of Genome Resources
autosomal dominant intellectual developmental disorder AUTS2 Auts2* 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 MYC Myc*, Bmyc 1 model Alliance of Genome Resources
autosomal dominant polycystic kidney disease NPHP3 Nphp3* 3 models Alliance of Genome Resources
autosomal dominant polycystic kidney disease BICC1 Bicc1* 1 model Alliance of Genome Resources
autosomal recessive Alport syndrome MPV17 Mpv17* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B CST6 Cst6* 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 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 TSC1 Tsc1* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease ARL3 Arl3* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease BICC1 Bicc1* 6 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease CYS1 Cys1* 5 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease DZIP1L Dzip1l* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease IFT88 Ift88* 4 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease NEK1 Nek1* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease NEK8 Nek8* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease PKD1 Pkd1* 2 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease SCLT1 Sclt1* 1 model 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 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
Barth syndrome FKBP1A, FKBP1C Fkbp1a* 1 model Alliance of Genome Resources
Barth syndrome MEST Mest* 1 model Alliance of Genome Resources
Bartter disease CLCNKA, CLCNKB Clcnkb*, Clcnka 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
buphthalmos TYR Tyr* 3 models Alliance of Genome Resources
buphthalmos FOXC1 Foxc1* 2 models Alliance of Genome Resources
Camurati-Engelmann disease MITF Mitf* 1 model Alliance of Genome Resources
Canavan disease SOD2 Sod2* 1 model Alliance of Genome Resources
cardiofaciocutaneous syndrome MAP2K1 Map2k1* 1 model Alliance of Genome Resources
Caroli syndrome PKHD1 Pkhd1* 1 model Alliance of Genome Resources
cataract SORD Sord* 1 model Alliance of Genome Resources
cataract Acc* 1 model
cataract GCLC Gclc* 1 model Alliance of Genome Resources
cataract Enc* 1 model
cataract DNASE2B Dnase2b* 1 model Alliance of Genome Resources
cataract CRYGD Cryge*, Crygd, Crygf 2 models Alliance of Genome Resources
cataract CRYGA Cryga* 1 model Alliance of Genome Resources
cataract Coc* 2 models
cataract Ccw* 1 model
cataract Cat4* 3 models
cataract Cat2* 1 model
cataract Apoca* 1 model
cataract Apo* 1 model
cataract VPS13B Vps13b* 1 model Alliance of Genome Resources
cataract Tcm* 1 model
cataract Alm* 1 model
cataract Nuca* 1 model
cataract Idc* 1 model
cataract Iac* 1 model
cataract 2 multiple types CRYGD Crygd*, Cryge, Crygf 1 model Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia FKBP1B Fkbp1b* 1 model Alliance of Genome Resources
central conducting lymphatic anomaly MDFIC Mdfic* 1 model Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome ATP8A2 Atp8a2* 4 models Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome CA8 Car8* 1 model Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia ANKFY1 Ankfy1* 1 model Alliance of Genome Resources
chromosome 1q41-q42 deletion syndrome TP53BP2 Trp53bp2* 3 models Alliance of Genome Resources
ciliopathy WDR11 Wdr11* 1 model Alliance of Genome Resources
ciliopathy SCLT1 Sclt1* 1 model Alliance of Genome Resources
ciliopathy WDR19 Wdr19* 1 model Alliance of Genome Resources
ciliopathy SPRY2 Spry2* 3 models Alliance of Genome Resources
ciliopathy KIF7 Kif7* 1 model Alliance of Genome Resources
cleidocranial dysplasia Ccd* 2 models
Coffin-Siris syndrome ARID1A Arid1a* 2 models Alliance of Genome Resources
common variable immunodeficiency ICOS Icos* 2 models Alliance of Genome Resources
common variable immunodeficiency NFKB2 Nfkb2* 3 models Alliance of Genome Resources
cone-rod dystrophy DRAM2 Dram2* 1 model Alliance of Genome Resources
cone-rod dystrophy TLCD3B Tlcd3b* 1 model Alliance of Genome Resources
cone-rod dystrophy 19 rd22* 1 model
congenital amegakaryocytic thrombocytopenia MPL Mpl* 1 model 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
Cornelia de Lange syndrome PDS5A Pds5a* 1 model Alliance of Genome Resources
cystic fibrosis SCNN1B Scnn1b* 1 model Alliance of Genome Resources
Dent disease CLCN5 Clcn5* 2 models Alliance of Genome Resources
DiGeorge syndrome NDST1 Ndst1* 1 model Alliance of Genome Resources
DiGeorge syndrome PLXND1 Plxnd1* 2 models Alliance of Genome Resources
DiGeorge syndrome pta* 1 model
DiGeorge syndrome KAT6A Kat6a* 2 models Alliance of Genome Resources
DiGeorge syndrome ALDH1A2 Aldh1a2* 1 model Alliance of Genome Resources
DiGeorge syndrome ZNF366 Zfp366* 1 model Alliance of Genome Resources
DiGeorge syndrome b2b954Clo* 1 model
DiGeorge syndrome b2b1941Clo* 1 model
DiGeorge syndrome b2b2696Clo* 1 model
DiGeorge syndrome CHRD Chrd* 1 model Alliance of Genome Resources
DiGeorge syndrome CRKL Crkl* 1 model Alliance of Genome Resources
DiGeorge syndrome VEGFA Vegfa* 2 models Alliance of Genome Resources
DiGeorge syndrome DICER1 Dicer1* 1 model Alliance of Genome Resources
DiGeorge syndrome TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
DiGeorge syndrome DOCK1 Dock1* 1 model Alliance of Genome Resources
DiGeorge syndrome FGF8 Fgf8* 1 model Alliance of Genome Resources
DiGeorge syndrome FOXN1 Foxn1* 1 model Alliance of Genome Resources
DiGeorge syndrome HOXA3 Hoxa3* 1 model Alliance of Genome Resources
dilated cardiomyopathy 1A DOT1L Dot1l* 1 model Alliance of Genome Resources
Duchenne muscular dystrophy CTSS Ctss* 1 model Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1 COL5A2 Col5a2* 1 model Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 1 LUM Lum* 2 models Alliance of Genome Resources
enhanced S-cone syndrome NRL Nrl* 1 model Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type KRT5 Krt5* 1 model Alliance of Genome Resources
epidermolysis bullosa simplex Dowling-Meara type KRT14 Krt14* 3 models Alliance of Genome Resources
familial adenomatous polyposis APC Apc* 10 models Alliance of Genome Resources
familial medullary thyroid carcinoma PRLR Prlr* 1 model Alliance of Genome Resources
fibrodysplasia ossificans progressiva BMP4 Bmp4* 1 model Alliance of Genome Resources
Fraser syndrome FREM1 Frem1* 4 models Alliance of Genome Resources
Fraser syndrome FRAS1 Fras1* 6 models Alliance of Genome Resources
Fraser syndrome GRIP1 Grip1* 2 models Alliance of Genome Resources
Fraser syndrome FREM2 Frem2* 6 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
glycine encephalopathy SLC6A9 Slc6a9* 1 model Alliance of Genome Resources
glycogen storage disease Ia SLC37A4 Slc37a4* 1 model Alliance of Genome Resources
glycogen storage disease V HIF1A Hif1a* 1 model Alliance of Genome Resources
glycogen storage disease VII HIF1A Hif1a* 1 model Alliance of Genome Resources
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions TARDBP Tardbp* 1 model Alliance of Genome Resources
hereditary multiple exostoses EXT2 Ext2* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 ADD2 Add2* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 EPB42 Epb42* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 SPTA1 Spta1* 3 models Alliance of Genome Resources
hereditary spherocytosis type 4 SLC4A1 Slc4a1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome KXD1 Kxd1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome VPS33A Vps33a* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome SLC7A11 Slc7a11* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome RABGGTA Rabggta* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome BLOC1S4 Bloc1s4* 2 models 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 KL Kl* 2 models Alliance of Genome Resources
hyperphosphatemic familial tumoral calcinosis GALNT3 Galnt3* 2 models Alliance of Genome Resources
hypochondrogenesis COL2A1 Col2a1* 1 model Alliance of Genome Resources
hypotrichosis 4 HR Hr* 1 model Alliance of Genome Resources
ichthyosis vulgaris LBR Lbr* 1 model Alliance of Genome Resources
idiopathic pulmonary fibrosis FOSL2 Fosl2* 1 model Alliance of Genome Resources
idiopathic pulmonary fibrosis TNF Tnf* 1 model Alliance of Genome Resources
inflammatory bowel disease 1 NOD2 Nod2* 1 model Alliance of Genome Resources
inflammatory bowel disease 12 GNAI2 Gnai2* 3 models Alliance of Genome Resources
inflammatory bowel disease 16 TNFSF15 Tnfsf15* 2 models Alliance of Genome Resources
Joubert syndrome ZIC1 Zic1* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type ITGA6 Itga6* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type LAMC2 Lamc2* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa Herlitz type LAMB3 Lamb3* 2 models Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type COL17A1 Col17a1* 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 LAMB3 Lamb3* 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 ITGB4 Itgb4* 1 model Alliance of Genome Resources
juvenile glaucoma PAX6 Pax6* 1 model Alliance of Genome Resources
Kartagener syndrome AP1B1 Ap1b1* 1 model Alliance of Genome Resources
Kartagener syndrome b2b1200Clo* 1 model
Kartagener syndrome b2b1519Clo* 1 model
Kartagener syndrome b2b1700Clo* 1 model
Kartagener syndrome b2b2350Clo* 1 model
Kartagener syndrome CCDC39 Ccdc39* 2 models Alliance of Genome Resources
Kartagener syndrome DAW1 Daw1* 2 models Alliance of Genome Resources
Kartagener syndrome DNAAF3 Dnaaf3* 1 model Alliance of Genome Resources
Kartagener syndrome DNAI2 Dnai2* 1 model Alliance of Genome Resources
Kartagener syndrome DRC1 Drc1* 2 models Alliance of Genome Resources
Kartagener syndrome FOXJ1 Foxj1* 2 models Alliance of Genome Resources
Kartagener syndrome C1orf127 Gm572* 1 model Alliance of Genome Resources
Kartagener syndrome ODAD2 Odad2* 1 model Alliance of Genome Resources
Kartagener syndrome ODAD3 Odad3* 1 model Alliance of Genome Resources
Kartagener syndrome SLIT2 Slit2* 1 model Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1 FGF10 Fgf10* 1 model Alliance of Genome Resources
Lafora disease EPM2A Epm2a* 1 model Alliance of Genome Resources
Lafora disease NHLRC1 Nhlrc1* 3 models Alliance of Genome Resources
leukocyte adhesion deficiency 3 RASGRP2 Rasgrp2* 1 model Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B4 Eif2b4* 4 models Alliance of Genome Resources
Loeys-Dietz syndrome TGFBR2 Tgfbr2* 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
lysosomal acid lipase deficiency LIPA Lipa* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young PDX1 Pdx1* 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 MAFA Mafa* 1 model Alliance of Genome Resources
maturity-onset diabetes of the young TGM2 Tgm2* 1 model Alliance of Genome Resources
Meckel syndrome CC2D2A Cc2d2a* 1 model Alliance of Genome Resources
Meckel syndrome CEP55 Cep55* 1 model Alliance of Genome Resources
Meckel syndrome MKS1 Mks1* 3 models Alliance of Genome Resources
Meckel syndrome RPGRIP1L Rpgrip1l* 1 model Alliance of Genome Resources
Meckel syndrome TBC1D32 Tbc1d32* 1 model Alliance of Genome Resources
Meckel syndrome TMEM67 Tmem67* 2 models Alliance of Genome Resources
microvillus inclusion disease CDC42 Cdc42* 1 model Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome PAFAH1B1 Pafah1b1* 5 models Alliance of Genome Resources
Miller-Dieker lissencephaly syndrome YWHAE Ywhae* 2 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
multiple synostoses syndrome GDF5 Gdf5* 1 model Alliance of Genome Resources
multiple synostoses syndrome FGF9 Fgf9* 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 POMGNT1 Pomgnt1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKRP Fkrp* 2 models 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 AHI1 Ahi1* 2 models Alliance of Genome Resources
nephronophthisis CNTRL Cntrl* 1 model Alliance of Genome Resources
nephronophthisis WWTR1 Wwtr1* 1 model Alliance of Genome Resources
nephronophthisis SDCCAG8 Sdccag8* 1 model 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
neurogenic-type arthrogryposis multiplex congenita-2 pma* 1 model
neuronal ceroid lipofuscinosis 3 PPT1 Ppt1* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN6 Clcn6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN3 Clcn3* 1 model Alliance of Genome Resources
non-syndromic X-linked intellectual disability IQSEC2 Iqsec2* 2 models Alliance of Genome Resources
non-syndromic X-linked intellectual disability DLG3 Dlg3* 1 model Alliance of Genome Resources
Noonan syndrome APAF1 Apaf1* 1 model Alliance of Genome Resources
Noonan syndrome KAT6B Kat6b* 1 model Alliance of Genome Resources
Noonan syndrome with multiple lentigines PTPN11 Ptpn11* 3 models Alliance of Genome Resources
Norrie disease FZD4 Fzd4* 1 model 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
polycystic liver disease PRKCSH Prkcsh* 1 model Alliance of Genome Resources
popliteal pterygium syndrome RIPK4 Ripk4* 1 model Alliance of Genome Resources
primary ciliary dyskinesia DPCD Dpcd* 2 models Alliance of Genome Resources
primary ciliary dyskinesia TTLL1 Ttll1* 1 model Alliance of Genome Resources
primary ciliary dyskinesia SPEF2 Spef2* 2 models Alliance of Genome Resources
primary ciliary dyskinesia AP1B1 Ap1b1* 1 model Alliance of Genome Resources
primary ciliary dyskinesia b2b227Clo* 1 model
primary ciliary dyskinesia b2b1146Clo* 1 model
primary ciliary dyskinesia b2b1200Clo* 1 model
primary ciliary dyskinesia b2b1700Clo* 1 model
primary ciliary dyskinesia b2b1929Clo* 1 model
primary ciliary dyskinesia b2b2059Clo* 1 model
primary ciliary dyskinesia b2b2350Clo* 1 model
primary ciliary dyskinesia CBY1 Cby1* 1 model Alliance of Genome Resources
primary ciliary dyskinesia DNAAF5 Dnaaf5* 1 model Alliance of Genome Resources
primary ciliary dyskinesia SLIT2 Slit2* 1 model Alliance of Genome Resources
primary ciliary dyskinesia PCSK5 Pcsk5* 1 model Alliance of Genome Resources
primary ciliary dyskinesia C1orf127 Gm572* 1 model Alliance of Genome Resources
primary ciliary dyskinesia GAS2L2 Gas2l2* 1 model Alliance of Genome Resources
primary ciliary dyskinesia FOXJ1 Foxj1* 3 models Alliance of Genome Resources
primary ciliary dyskinesia DNAH5 Dnah5* 1 model Alliance of Genome Resources
primary ciliary dyskinesia DNAI2 Dnai2* 1 model Alliance of Genome Resources
primary ciliary dyskinesia 14 b2b2025Clo* 1 model
progeria SIRT6 Sirt6* 1 model Alliance of Genome Resources
progeria VCPIP1 Vcpip1* 1 model Alliance of Genome Resources
progeria ZMPSTE24 Zmpste24* 3 models Alliance of Genome Resources
pyridoxine-dependent epilepsy ALDH7A1 Aldh7a1* 1 model Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa GRIP1 Grip1* 1 model Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa COL7A1 Col7a1* 5 models Alliance of Genome Resources
retinitis pigmentosa 2 ARL3 Arl3* 1 model Alliance of Genome Resources
right atrial isomerism CFC1, CFC1B Cfc1* 2 models Alliance of Genome Resources
right atrial isomerism ACVR2B Acvr2b* 1 model Alliance of Genome Resources
Robinow syndrome WNT5A Wnt5a* 1 model Alliance of Genome Resources
Robinow syndrome DNAAF4 Dnaaf4* 1 model Alliance of Genome Resources
Robinow syndrome b2b3077Clo* 1 model
sarcosinemia sar* 1 model
Seckel syndrome CPAP Cpap* 1 model Alliance of Genome Resources
Seckel syndrome ATR Atr* 1 model Alliance of Genome Resources
Seckel syndrome CEP63 Cep63* 1 model Alliance of Genome Resources
Seckel syndrome ATRIP Atrip* 1 model Alliance of Genome Resources
Senior-Loken syndrome TMEM218 Tmem218* 1 model Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive PRKDC Prkdc* 1 model Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive CORO1A Coro1a* 4 models Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive JAK3 Jak3* 2 models Alliance of Genome Resources
sickle cell anemia SPTA1 Spta1* 1 model Alliance of Genome Resources
Smith-McCort dysplasia DYM Dym* 1 model Alliance of Genome Resources
SOST-related sclerosing bone dysplasia SOST Sost* 1 model Alliance of Genome Resources
spinocerebellar ataxia type 27 FGF14 Fgf14* 1 model Alliance of Genome Resources
split hand-foot malformation 1 DLX6 Dlx6* 2 models Alliance of Genome Resources
spondyloepiphyseal dysplasia congenita HAPLN1 Hapln1* 1 model Alliance of Genome Resources
Stargardt disease ABCA4 Abca4* 5 models Alliance of Genome Resources
Stargardt disease ELOVL4 Elovl4* 2 models Alliance of Genome Resources
syndromic X-linked intellectual disability ARX Arx* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability RAB39B Rab39b* 1 model Alliance of Genome Resources
thalassemia PPP1R15A Ppp1r15a* 1 model Alliance of Genome Resources
type 1 diabetes mellitus 2 IGF2 Igf2* 3 models Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A1 Col6a1* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A3 Col6a3* 1 model Alliance of Genome Resources
Usher syndrome type 2C SLC4A7 Slc4a7* 1 model Alliance of Genome Resources
Usher syndrome type 3 CLRN1 Clrn1* 2 models Alliance of Genome Resources
Waardenburg syndrome SNAI2 Snai2* 1 model Alliance of Genome Resources
Waardenburg syndrome AEBP2 Aebp2* 1 model Alliance of Genome Resources
Waardenburg syndrome type 1 MITF Mitf* 1 model Alliance of Genome Resources
Walker-Warburg syndrome COL4A1 Col4a1* 1 model Alliance of Genome Resources
Williams-Beuren syndrome SRC Src* 1 model Alliance of Genome Resources
Williams-Beuren syndrome LOX Lox* 1 model Alliance of Genome Resources
Williams-Beuren syndrome LIMK1 Limk1* 3 models Alliance of Genome Resources
Williams-Beuren syndrome GTF2IRD1 Gtf2ird1* 6 models Alliance of Genome Resources
Williams-Beuren syndrome GTF2I Gtf2i* 4 models Alliance of Genome Resources
Williams-Beuren syndrome FZD9 Fzd9* 4 models Alliance of Genome Resources
Williams-Beuren syndrome DLG4 Dlg4* 1 model Alliance of Genome Resources
Williams-Beuren syndrome CLIP2 Clip2* 3 models Alliance of Genome Resources
Williams-Beuren syndrome BAZ1B Baz1b* 6 models Alliance of Genome Resources
Williams-Beuren syndrome b2b370Clo* 1 model
Wiskott-Aldrich syndrome FOXP3 Foxp3* 1 model Alliance of Genome Resources
Wiskott-Aldrich syndrome WASHC4 Washc4* 1 model Alliance of Genome Resources
xeroderma pigmentosum TERF2 Terf2* 2 models Alliance of Genome Resources
XFE progeroid syndrome ERCC1 Ercc1* 1 model Alliance of Genome Resources
X-linked agammaglobulinemia PIK3R1 Pik3r1* 2 models Alliance of Genome Resources
X-linked chondrodysplasia punctata 1 EBP Ebp* 1 model Alliance of Genome Resources
X-linked chondrodysplasia punctata 1 NSDHL Nsdhl* 1 model Alliance of Genome Resources
X-linked dilated cardiomyopathy Xlch* 2 models
X-linked dominant hypophosphatemic rickets Gy* 1 model
Zellweger syndrome PEX11B Pex11b* 3 models Alliance of Genome Resources
Zellweger syndrome PEX1 Pex1* 2 models Alliance of Genome Resources
     3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL* Hmgcl   Alliance of Genome Resources
3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH* Hibch   Alliance of Genome Resources
3MC syndrome 1 MASP1* Masp1   Alliance of Genome Resources
3MC syndrome 2 COLEC11* Colec11   Alliance of Genome Resources
3MC syndrome 3 COLEC10* Colec10   Alliance of Genome Resources
3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1* Mccc1   Alliance of Genome Resources
3-methylcrotonyl-CoA carboxylase 2 deficiency MCCC2* Mccc2   Alliance of Genome Resources
3-methylglutaconic aciduria type 1 AUH* Auh   Alliance of Genome Resources
3-methylglutaconic aciduria type 5 DNAJC19* Dnajc19, Dnajc19-ps   Alliance of Genome Resources
3-methylglutaconic aciduria type 7a CLPB* Clpb   Alliance of Genome Resources
3-methylglutaconic aciduria type 7b CLPB* Clpb   Alliance of Genome Resources
3-methylglutaconic aciduria type 8 HTRA2* Htra2   Alliance of Genome Resources
3-methylglutaconic aciduria type 9 TIMM50* Timm50   Alliance of Genome Resources
3-M syndrome CCDC8* Ccdc8   Alliance of Genome Resources
3-M syndrome OBSL1* Obsl1   Alliance of Genome Resources
3-M syndrome CUL7* Cul7   Alliance of Genome Resources
46,XX sex reversal 1 SRY* Sry   Alliance of Genome Resources
46,XX sex reversal 4 NR5A1* Nr5a1   Alliance of Genome Resources
46,XX sex reversal 5 NR2F2* Nr2f2   Alliance of Genome Resources
46,XY sex reversal 1 SRY* Sry   Alliance of Genome Resources
46,XY sex reversal 2 NR0B1* Nr0b1   Alliance of Genome Resources
46,XY sex reversal 3 NR5A1* Nr5a1   Alliance of Genome Resources
46,XY sex reversal 5 CBX2* Cbx2   Alliance of Genome Resources
46,XY sex reversal 6 MAP3K1* Map3k1   Alliance of Genome Resources
46,XY sex reversal 7 DHH* Dhh   Alliance of Genome Resources
46,XY sex reversal 8 AKR1C2*, AKR1C4*, AKR1C1, AKR1C3 Akr1c6, Akr1c12, Akr1c13, Akr1c14, Akr1c18, Akr1c19, Akr1c20, Akr1c21, Akr1cl   Alliance of Genome Resources
46,XY sex reversal 9 ZFPM2* Zfpm2   Alliance of Genome Resources
ABCD syndrome EDNRB* Ednrb   Alliance of Genome Resources
abdominal obesity-metabolic syndrome 3 DYRK1B* Dyrk1b   Alliance of Genome Resources
abdominal obesity-metabolic syndrome 4 CELA2A*, CELA2B Cela2a   Alliance of Genome Resources
abetalipoproteinemia MTTP* Mttp   Alliance of Genome Resources
ablepharon macrostomia syndrome TWIST2* Twist2   Alliance of Genome Resources
Abruzzo-Erickson syndrome TBX22* Tbx22   Alliance of Genome Resources
achondrogenesis type IB SLC26A2* Slc26a2   Alliance of Genome Resources
acrocapitofemoral dysplasia IHH* Ihh   Alliance of Genome Resources
acrofacial dysostosis Cincinnati type POLR1A* Polr1a   Alliance of Genome Resources
acrokeratosis verruciformis ATP2A2* Atp2a2   Alliance of Genome Resources
acromelic frontonasal dysostosis ZSWIM6* Zswim6   Alliance of Genome Resources
acromesomelic dysplasia-4 PRKG2* Prkg2   Alliance of Genome Resources
adermatoglyphia SMARCAD1* Smarcad1   Alliance of Genome Resources
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia CSF1R* Csf1r   Alliance of Genome Resources
adult spinal muscular atrophy SMN1*, SMN2 Smn1   Alliance of Genome Resources
ADULT syndrome TP63* Trp63   Alliance of Genome Resources
advanced sleep phase syndrome PER2* Per2   Alliance of Genome Resources
advanced sleep phase syndrome TIMELESS* Timeless   Alliance of Genome Resources
advanced sleep phase syndrome PER3* Per3   Alliance of Genome Resources
advanced sleep phase syndrome AANAT* Aanat   Alliance of Genome Resources
advanced sleep phase syndrome 2 CSNK1D* Csnk1d   Alliance of Genome Resources
advanced sleep phase syndrome 3 PER3* Per3   Alliance of Genome Resources
agammaglobulinemia 1 IGHM* Ighm   Alliance of Genome Resources
agammaglobulinemia 10 SPI1* Spi1   Alliance of Genome Resources
agammaglobulinemia 2 IGLL1*, IGLL5 Igll1   Alliance of Genome Resources
agammaglobulinemia 3 CD79A* Cd79a   Alliance of Genome Resources
agammaglobulinemia 4 BLNK* Blnk   Alliance of Genome Resources
agammaglobulinemia 5 LRRC8A* Lrrc8a   Alliance of Genome Resources
agammaglobulinemia 6 CD79B* Cd79b   Alliance of Genome Resources
agammaglobulinemia 7 PIK3R1* Pik3r1   Alliance of Genome Resources
agammaglobulinemia 8A TCF3* Tcf3   Alliance of Genome Resources
agammaglobulinemia 8B TCF3* Tcf3   Alliance of Genome Resources
agammaglobulinemia 9 SLC39A7* Slc39a7   Alliance of Genome Resources
AGAT deficiency GATM* Gatm   Alliance of Genome Resources
age related macular degeneration HTRA1* Htra1   Alliance of Genome Resources
age related macular degeneration FBLN5* Fbln5   Alliance of Genome Resources
age related macular degeneration 1 CFHR1*, CFHR2 Cfhr1   Alliance of Genome Resources
age related macular degeneration 1 HMCN1* Hmcn1   Alliance of Genome Resources
age related macular degeneration 1 CFHR3* Cfhr2   Alliance of Genome Resources
age related macular degeneration 1 APOE* Apoe 1 model Alliance of Genome Resources
age related macular degeneration 11 CST3* Cst3   Alliance of Genome Resources
age related macular degeneration 13 CFI* Cfi   Alliance of Genome Resources
age related macular degeneration 14 C2* C2   Alliance of Genome Resources
age related macular degeneration 14 CFB* Cfb   Alliance of Genome Resources
age related macular degeneration 15 C9* C9   Alliance of Genome Resources
age related macular degeneration 2 ABCA4* Abca4 1 model Alliance of Genome Resources
age related macular degeneration 5 ERCC6* Ercc6   Alliance of Genome Resources
age related macular degeneration 6 RAX2*  
age related macular degeneration 7 C3* C3   Alliance of Genome Resources
age related macular degeneration 7 HTRA1* Htra1   Alliance of Genome Resources
age related macular degeneration 8 ARMS2*  
age related macular degeneration 9 C3* C3   Alliance of Genome Resources
Aicardi-Goutieres syndrome IFIH1* Ifih1   Alliance of Genome Resources
Aicardi-Goutieres syndrome SAMHD1* Samhd1   Alliance of Genome Resources
Aicardi-Goutieres syndrome RNU7-1*  
Aicardi-Goutieres syndrome RNASEH2C* Rnaseh2c   Alliance of Genome Resources
Aicardi-Goutieres syndrome RNASEH2B* Rnaseh2b   Alliance of Genome Resources
Aicardi-Goutieres syndrome RNASEH2A* Rnaseh2a   Alliance of Genome Resources
Aicardi-Goutieres syndrome LSM11* Lsm11   Alliance of Genome Resources
Aland Island eye disease CACNA1F* Cacna1f   Alliance of Genome Resources
Alkuraya-Kucinskas syndrome BLTP1* Bltp1   Alliance of Genome Resources
alopecia-mental retardation syndrome 1 AHSG* Ahsg   Alliance of Genome Resources
alopecia-mental retardation syndrome 4 LSS* Lss   Alliance of Genome Resources
alopecia, neurologic defects, and endocrinopathy syndrome RBM28* Rbm28   Alliance of Genome Resources
Alpers-Huttenlocher syndrome POLG* Polg   Alliance of Genome Resources
alpha thalassemia GPX1* Gpx1   Alliance of Genome Resources
alpha thalassemia HBA1*, HBA2* Hba-a1, Hba-a2 7 models Alliance of Genome Resources
alpha thalassemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
Alport syndrome HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
Alport syndrome COL4A5* Col4a5   Alliance of Genome Resources
Alport syndrome COL4A3* Col4a3   Alliance of Genome Resources
Alzheimer's disease 1 PLAU* Plau   Alliance of Genome Resources
Alzheimer's disease 1 APP* App   Alliance of Genome Resources
Alzheimer's disease 1 MPO* Mpo   Alliance of Genome Resources
Alzheimer's disease 2 APOE* Apoe   Alliance of Genome Resources
Alzheimer's disease 3 APOE* Apoe   Alliance of Genome Resources
Alzheimer's disease 4 PSEN2* Psen2 1 model Alliance of Genome Resources
Alzheimer's disease 9 ABCA7* Abca7   Alliance of Genome Resources
AMED syndrome ADH5* Adh5   Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A4 ODAPH* Odaph   Alliance of Genome Resources
amelogenesis imperfecta hypomaturation type 2A5 SLC24A4* Slc24a4   Alliance of Genome Resources
amelogenesis imperfecta type 1A LAMB3* Lamb3   Alliance of Genome Resources
amelogenesis imperfecta type 1C ENAM* Enam   Alliance of Genome Resources
amelogenesis imperfecta type 1F AMBN* Ambn   Alliance of Genome Resources
amelogenesis imperfecta type 1G FAM20A* Fam20a   Alliance of Genome Resources
amelogenesis imperfecta type 1H ITGB6* Itgb6   Alliance of Genome Resources
amelogenesis imperfecta type 1J ACP4* Acp4   Alliance of Genome Resources
amelogenesis imperfecta type 2A1 KLK4* Klk4   Alliance of Genome Resources
amelogenesis imperfecta type 2A6 GPR68* Gpr68   Alliance of Genome Resources
amelogenesis imperfecta type 3A FAM83H* Fam83h   Alliance of Genome Resources
amelogenesis imperfecta type 3B AMTN* Amtn   Alliance of Genome Resources
amelogenesis imperfecta type 4 DLX3* Dlx3   Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 NEFH* Nefh   Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 DCTN1* Dctn1   Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 PRPH* Prph   Alliance of Genome Resources
amyotrophic lateral sclerosis type 24 NEK1* Nek1   Alliance of Genome Resources
amyotrophic lateral sclerosis type 25 KIF5A* Kif5a   Alliance of Genome Resources
amyotrophic lateral sclerosis type 26 TIA1* Tia1   Alliance of Genome Resources
amyotrophic lateral sclerosis type 28 LRP12* Lrp12   Alliance of Genome Resources
anauxetic dysplasia 1 RMRP* Rmrp   Alliance of Genome Resources
anauxetic dysplasia 2 POP1* Pop1   Alliance of Genome Resources
anauxetic dysplasia 3 NEPRO* Nepro   Alliance of Genome Resources
Andersen-Tawil syndrome KCNJ2* Kcnj2   Alliance of Genome Resources
aniridia 1 PAX6* Pax6   Alliance of Genome Resources
anterior segment dysgenesis FOXE3* Foxe3   Alliance of Genome Resources
anterior segment dysgenesis 1 PITX3* Pitx3   Alliance of Genome Resources
anterior segment dysgenesis 2 FOXE3* Foxe3   Alliance of Genome Resources
anterior segment dysgenesis 3 FOXC1* Foxc1   Alliance of Genome Resources
anterior segment dysgenesis 4 PITX2* Pitx2   Alliance of Genome Resources
anterior segment dysgenesis 5 PAX6* Pax6   Alliance of Genome Resources
anterior segment dysgenesis 6 CYP1B1* Cyp1b1   Alliance of Genome Resources
anterior segment dysgenesis 7 PXDN* Pxdn   Alliance of Genome Resources
anterior segment dysgenesis 8 CPAMD8*  
Antley-Bixler syndrome with disordered steroidogenesis POR* Por   Alliance of Genome Resources
Antley-Bixler syndrome without disordered steroidogenesis FGFR2* Fgfr2   Alliance of Genome Resources
aortic valve disease 1 NOTCH1* Notch1   Alliance of Genome Resources
aortic valve disease 2 SMAD6* Smad6   Alliance of Genome Resources
aortic valve disease 2 NKX2-5* Nkx2-5   Alliance of Genome Resources
aortic valve disease 2 FTO* Fto   Alliance of Genome Resources
aortic valve disease 3 ROBO4* Robo4   Alliance of Genome Resources
aplasia of lacrimal and salivary glands FGF10* Fgf10   Alliance of Genome Resources
apolipoprotein C-III deficiency APOC3* Apoc3   Alliance of Genome Resources
APP-related cerebral amyloid angiopathy APP* App   Alliance of Genome Resources
Arboleda-Tham syndrome KAT6A* Kat6a   Alliance of Genome Resources
Armfield syndrome FAM50A* Fam50a   Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 1 TGFB3* Tgfb3   Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 13 CTNNA3* Ctnna3   Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 14 CDH2* Cdh2   Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 5 TMEM43* Tmem43   Alliance of Genome Resources
arrhythmogenic right ventricular dysplasia 9 PKP2* Pkp2   Alliance of Genome Resources
arthrogryposis multiplex congenita VPS33B* Vps33b   Alliance of Genome Resources
arthrogryposis multiplex congenita MYH8* Myh8   Alliance of Genome Resources
arthrogryposis multiplex congenita SYNE1* Syne1   Alliance of Genome Resources
arthrogryposis multiplex congenita TNNI2* Tnni2   Alliance of Genome Resources
arthrogryposis multiplex congenita-1 LGI4* Lgi4   Alliance of Genome Resources
arthrogryposis multiplex congenita-3 SYNE1* Syne1   Alliance of Genome Resources
arthrogryposis multiplex congenita-4 SCYL2* Scyl2   Alliance of Genome Resources
arthrogryposis multiplex congenita-5 TOR1A* Tor1a   Alliance of Genome Resources
arthrogryposis multiplex congenita-6 NEB* Neb   Alliance of Genome Resources
arthrogryposis, renal dysfunction, and cholestasis 1 VPS33B* Vps33b   Alliance of Genome Resources
arthrogryposis, renal dysfunction, and cholestasis 2 VIPAS39* Vipas39   Alliance of Genome Resources
Arts syndrome PITX2* Pitx2   Alliance of Genome Resources
Arts syndrome PRPS1* Prps1   Alliance of Genome Resources
asphyxiating thoracic dystrophy 4 TTC21B* Ttc21b   Alliance of Genome Resources
asphyxiating thoracic dystrophy 5 WDR19* Wdr19   Alliance of Genome Resources
ataxia-oculomotor apraxia type 4 PNKP* Pnkp   Alliance of Genome Resources
ataxia telangiectasia BAK1* Bak1   Alliance of Genome Resources
ataxia telangiectasia BAX* Bax   Alliance of Genome Resources
ataxia telangiectasia BIK* Bik   Alliance of Genome Resources
ataxia telangiectasia HDAC4* Hdac4   Alliance of Genome Resources
ataxia telangiectasia IFNG* Ifng   Alliance of Genome Resources
ataxia telangiectasia IL2* Il2   Alliance of Genome Resources
ataxia-telangiectasia-like disorder-1 MRE11* Mre11a   Alliance of Genome Resources
ataxia-telangiectasia-like disorder-2 PCNA* Pcna   Alliance of Genome Resources
ataxia with oculomotor apraxia type 1 APTX* Aptx   Alliance of Genome Resources
ataxia with oculomotor apraxia type 3 PIK3R5* Pik3r5   Alliance of Genome Resources
atrial heart septal defect 5 ACTC1* Actc1   Alliance of Genome Resources
atrial heart septal defect 6 TLL1* Tll1   Alliance of Genome Resources
atrial heart septal defect 8 CITED2* Cited2   Alliance of Genome Resources
atrial heart septal defect 9 GATA6* Gata6   Alliance of Genome Resources
atrial standstill 1 GJA5* Gja5   Alliance of Genome Resources
atrial standstill 2 NPPA* Nppa   Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 2A CASP10*  
autoimmune lymphoproliferative syndrome type 3 PRKCD* Prkcd   Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 4 NRAS* Nras   Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 4 KRAS* Kras   Alliance of Genome Resources
autosomal dominant Alport syndrome MYH9* Myh9   Alliance of Genome Resources
autosomal dominant Alport syndrome COL4A3* Col4a3   Alliance of Genome Resources
autosomal dominant auditory neuropathy 3 TMEM43* Tmem43   Alliance of Genome Resources
autosomal dominant beta thalassemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
autosomal dominant cerebellar ataxia SAMD9L* Samd9l   Alliance of Genome Resources
autosomal dominant cerebellar ataxia NPTX1* Nptx1   Alliance of Genome Resources
autosomal dominant cerebellar ataxia FGF14* Fgf14   Alliance of Genome Resources
autosomal dominant cerebellar ataxia, deafness and narcolepsy DNMT1* Dnmt1   Alliance of Genome Resources
autosomal dominant craniodiaphyseal dysplasia SOST* Sost   Alliance of Genome Resources
autosomal dominant craniometaphyseal dysplasia ANKH* Ank   Alliance of Genome Resources
autosomal dominant cutis laxa 1 ELN* Eln   Alliance of Genome Resources
autosomal dominant cutis laxa 2 FBLN5* Fbln5   Alliance of Genome Resources
autosomal dominant cutis laxa 3 ALDH18A1* Aldh18a1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 10 EMILIN1* Emilin1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 11 SPTAN1* Sptan1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 12 REEP1* Reep1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 13 BSCL2* Bscl2   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 14 DCTN1* Dctn1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 3 HSPB1* Hspb1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 4 HSPB3* Hspb3   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 5 GARS1* Gars1   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 6 FBXO38* Fbxo38   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 7 SLC5A7* Slc5a7   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 8 TRPV4* Trpv4   Alliance of Genome Resources
autosomal dominant distal hereditary motor neuronopathy 9 WARS1* Wars1   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 1 TERC*  
autosomal dominant dyskeratosis congenita 2 TERT* Tert   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 3 TINF2* Tinf2   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 6 ACD* Acd   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 2 LMNA* Lmna   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 4 SYNE1* Syne1   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 5 SYNE2* Syne2   Alliance of Genome Resources
autosomal dominant Emery-Dreifuss muscular dystrophy 7 TMEM43* Tmem43   Alliance of Genome Resources
autosomal dominant hyaline body myopathy MYH7* Myh7   Alliance of Genome Resources
autosomal dominant hypocalcemia CASR* Casr   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder TLK2* Tlk2   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder TAF4* Taf4   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder SRRM2* Srrm2   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder SETD2* Setd2   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder SET*, SETSIP Set   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder RFX7* Rfx7   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder MED13* Med13   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder LMAN2L* Lman2l   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder KMT2B* Kmt2b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder KDM4B* Kdm4b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder HNRNPC* Hnrnpc   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder GRIA1* Gria1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder DLG4* Dlg4   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder DIP2B* Dip2b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder CAMK2G* Camk2g   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder ATP2B1* Atp2b1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder AP2M1* Ap2m1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder ZNF292* Zfp292   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder TRIO* Trio   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 1 MBD5* Mbd5   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 10 CACNG2* Cacng2   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 11 EPB41L1* Epb41l1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 13 DYNC1H1* Dync1h1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 19 CTNNB1* Ctnnb1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 21 CTCF* Ctcf   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 22 ZBTB18* Zbtb18   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 23 SETD5* Setd5   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 29 SETBP1* Setbp1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 3 CDH15* Cdh15   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 30 ZMYND11* Zmynd11   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 31 PURA* Pura   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 33 DPP6* Dpp6   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 34 CERT1* Cert1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 35 PPP2R5D* Ppp2r5d   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 36 PPP2R1A* Ppp2r1a   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 40 CHAMP1* Champ1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 41 TBL1XR1* Tbl1xr1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 42 GNB1* Gnb1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 43 HIVEP2* Hivep2   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 44 TRIO* Trio   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 45 CIC* Cic   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 46 KCNQ5* Kcnq5   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 47 STAG1* Stag1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 48 RAC1* Rac1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 5 SYNGAP1* Syngap1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 50 NAA15* Naa15   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 51 KMT5B* Kmt5b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 52 ASH1L* Ash1l   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 53 CAMK2A* Camk2a   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 54 CAMK2B* Camk2b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 55 NUS1* Nus1   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 56 CLTC* Cltc   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 6 GRIN2B* Grin2b   Alliance of Genome Resources
autosomal dominant intellectual developmental disorder 8 GRIN1* Grin1   Alliance of Genome Resources
autosomal dominant isolated ectopia lentis 1 FBN1* Fbn1   Alliance of Genome Resources
autosomal dominant isolated macrothrombocytopenia 1 TUBB1* Tubb1   Alliance of Genome Resources
autosomal dominant keratitis PAX6* Pax6   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy CAPN3* Capn3   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 1 DNAJB6* Dnajb6   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 2 TNPO3* Tnpo3   Alliance of Genome Resources
autosomal dominant limb-girdle muscular dystrophy type 3 HNRNPDL* Hnrnpdl   Alliance of Genome Resources
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques TRPV3* Trpv3   Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy CHRNB2* Chrnb2   Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 1 CHRNA4* Chrna4 1 "NOT" model Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 4 CHRNA2* Chrna2   Alliance of Genome Resources
autosomal dominant nocturnal frontal lobe epilepsy 5 KCNT1* Kcnt1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness THOC1* Thoc1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness PI4KB* Pi4kb   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness USP48* Usp48   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness ATOH1* Atoh1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness MYO3A* Myo3a   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness EPHA10* Epha10   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness MAP1B* Map1b   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness ATP2B2* Atp2b2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness GREB1L* Greb1l   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness ATP11A* Atp11a   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness COL11A1* Col11a1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness ELMOD3* Elmod3   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 1 DIAPH1* Diaph1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 10 EYA4* Eya4   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 11 MYO7A* Myo7a   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 15 POU4F3* Pou4f3 1 "NOT" model Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 17 MYH9* Myh9   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 20 ACTG1* Actg1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 21 RIPOR2* Ripor2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 23 SIX1* Six1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 27 REST* Rest   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 28 GRHL2* Grhl2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2A KCNQ4* Kcnq4   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 2B GJB3* Gjb3   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 34 NLRP3* Nlrp3   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3A GJB2* Gjb2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 3B GJB6* Gjb6   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 40 CRYM* Crym   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 44 CCDC50* Ccdc50   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4A MYH14* Myh14   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 4B CEACAM16* Ceacam16   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 5 GSDME* Gsdme   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 50 MIR96* Mir96   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 56 TNC* Tnc   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 6 WFS1* Wfs1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 64 DIABLO* Diablo   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 65 TBC1D24* Tbc1d24 2 "NOT" models Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 66 CD164* Cd164   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 68 HOMER2* Homer2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 69 KITLG* Kitl   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 7 LMX1A* Lmx1a   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 70 MCM2* Mcm2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 71 DMXL2* Dmxl2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 72 SLC44A4* Slc44a4   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 73 PTPRQ* Ptprq   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 74 PDE1C* Pde1c   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 75 TRRAP* Trrap   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 76 PLS1* Pls1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 77 ABCC1* Abcc1   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 78 SLC12A2* Slc12a2   Alliance of Genome Resources
autosomal dominant nonsyndromic deafness 79 SCD5*  
autosomal dominant osteopetrosis 1 LRP5*, LRP5L Lrp5   Alliance of Genome Resources
autosomal dominant polycystic kidney disease PKD1* Pkd1   Alliance of Genome Resources
autosomal dominant polycystic kidney disease MTOR* Mtor   Alliance of Genome Resources
autosomal dominant polycystic kidney disease LRP5*, LRP5L Lrp5   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia 1 POLG* Polg   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 SLC25A4* Slc25a4   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 TWNK* Twnk   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 POLG2* Polg2   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 RRM2B* Rrm2b   Alliance of Genome Resources
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 DNA2* Dna2   Alliance of Genome Resources
autosomal dominant Robinow syndrome 1 WNT5A* Wnt5a   Alliance of Genome Resources
autosomal dominant Robinow syndrome 2 DVL1*, DVL1P1 Dvl1   Alliance of Genome Resources
autosomal dominant Robinow syndrome 3 DVL3* Dvl3   Alliance of Genome Resources
autosomal dominant sensory ataxia 1 RNF170* Rnf170   Alliance of Genome Resources
autosomal dominant sideroblastic anemia 4 HSPA9* Hspa9   Alliance of Genome Resources
autosomal dominant thrombophilia due to protein C deficiency PROC* Proc   Alliance of Genome Resources
autosomal dominant thrombophilia due to protein S deficiency PROS1* Pros1   Alliance of Genome Resources
autosomal dominant vitreoretinochoroidopathy BEST1* Best1   Alliance of Genome Resources
autosomal dominant Wolfram syndrome WFS1* Wfs1   Alliance of Genome Resources
autosomal dominant woolly hair KRT74* Krt74   Alliance of Genome Resources
autosomal hemophilia A IFNL4*  
autosomal recessive chronic granulomatous disease 1 NCF1*, NCF1B, NCF1C Ncf1   Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 2 NCF2* Ncf2   Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 3 NCF4* Ncf4   Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 4 CYBA* Cyba   Alliance of Genome Resources
autosomal recessive chronic granulomatous disease 5 CYBC1* Cybc1   Alliance of Genome Resources
autosomal recessive congenital bilateral absence of vas deferens CFTR* Cftr   Alliance of Genome Resources
autosomal recessive congenital ichthyosis ERCC2* Ercc2   Alliance of Genome Resources
autosomal recessive congenital ichthyosis CASP14* Casp14   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ALOXE3* Aloxe3   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ABHD5* Abhd5   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ABCA12* Abca12   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 11 ST14* St14   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 14 SULT2B1* Sult2b1   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 2 ALOX12B* Alox12b   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 3 ALOXE3* Aloxe3   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4A ABCA12* Abca12   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 5 CYP4F22* Cyp4f39   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 6 NIPAL4* Nipal4   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 8 LIPN* Lipn   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 9 CERS3* Cers3   Alliance of Genome Resources
autosomal recessive congenital nystagmus ROBO1* Robo1   Alliance of Genome Resources
autosomal recessive craniometaphyseal dysplasia GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
autosomal recessive cutis laxa type IA FBLN5* Fbln5   Alliance of Genome Resources
autosomal recessive cutis laxa type IB EFEMP2* Efemp2   Alliance of Genome Resources
autosomal recessive cutis laxa type IC LTBP4* Ltbp4   Alliance of Genome Resources
autosomal recessive cutis laxa type IIA ATP6V0A2* Atp6v0a2   Alliance of Genome Resources
autosomal recessive cutis laxa type IIB PYCR1* Pycr1   Alliance of Genome Resources
autosomal recessive cutis laxa type IIC ATP6V1E1* Atp6v1e1   Alliance of Genome Resources
autosomal recessive cutis laxa type IID ATP6V1A* Atp6v1a   Alliance of Genome Resources
autosomal recessive cutis laxa type III ALDH18A1* Aldh18a1   Alliance of Genome Resources
autosomal recessive cutis laxa type IIIA ALDH18A1* Aldh18a1   Alliance of Genome Resources
autosomal recessive cutis laxa type IIIB PYCR1* Pycr1   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 10 VRK1* Vrk1   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 2 SIGMAR1* Sigmar1   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 4 PLEKHG5* Plekhg5   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 5 DNAJB2* Dnajb2   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 6 REEP1* Reep1   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 7 VWA1* Vwa1   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 8 SORD* Sord   Alliance of Genome Resources
autosomal recessive distal hereditary motor neuronopathy 9 COQ7* Coq7   Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 1 NOP10* Nop10   Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 2 NHP2* Nhp2   Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 3 WRAP53* Wrap53   Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 5 RTEL1* Rtel1   Alliance of Genome Resources
autosomal recessive dyskeratosis congenita 6 PARN* Parn   Alliance of Genome Resources
autosomal recessive Emery-Dreifuss muscular dystrophy 3 LMNA* Lmna   Alliance of Genome Resources
autosomal recessive hyaline body myopathy MYH7* Myh7   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder WDR11* Wdr11   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder ASCC3* Ascc3   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder CASP2* Casp2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder TPR* Tpr   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 1 PRSS12* Prss12   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 12 ST3GAL3* St3gal3   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 13 TRAPPC9* Trappc9   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 14 TECR* Tecr   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 18 MED23* Med23   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 2 CRBN* Crbn   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 27 LINS1* Lins1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 3 CC2D1A* Cc2d1a   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 34 CRADD* Cradd   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 37 ANK3* Ank3   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 38 HERC2* Herc2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 39 TTI2* Tti2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 40 TAF2* Taf2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 43 WASHC4* Washc4   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 44 METTL23* Mettl23   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 45 FBXO31* Fbxo31   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 46 NDST1* Ndst1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 47 FMN2* Fmn2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 48 SLC6A17* Slc6a17   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 5 NSUN2* Nsun2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 50 EDC3* Edc3   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 51 HNMT* Hnmt   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 52 LMAN2L* Lman2l   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 54 TNIK* Tnik   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 56 ZC3H14* Zc3h14   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 57 MBOAT7* Mboat7   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 58 ELP2* Elp2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 59 IMPA1* Impa1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 6 GRIK2* Grik2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 60 TAF13* Taf13   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 61 RUSC2* Rusc2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 63 CAMK2A* Camk2a   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 64 LINGO1* Lingo1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 65 KDM5B* Kdm5b   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 66 FERRY3* D6Wsu163e   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 67 EIF3F* Eif3f   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 68 TRMT1* Trmt1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 69 ZBTB11* Zbtb11   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 7 TUSC3* Tusc3   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 70 RSRC1* Rsrc1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 71 ALKBH8* Alkbh8   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 72 METTL5* Mettl5   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 73 NAA20* Naa20   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 74 APC2* Apc2   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 75 PIDD1* Pidd1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 76 GRIA1* Gria1   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 77 CEP104* Cep104   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder 82 NSUN6* Nsun6   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy POMT2* Pomt2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy LAMA2* Lama2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy JAG2* Jag2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy HMGCR* Hmgcr   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy POPDC3* Popdc3   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2D DAG1* Dag1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2K POMT1* Pomt1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2L FKTN* Fktn   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2M FKTN* Fktn   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2N POMT2* Pomt2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2O POMGNT1* Pomgnt1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Q PLEC* Plec   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2S TRAPPC11* Trappc11   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB* Gmppb   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2W LIMS2* Lims2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2X POPDC1* Popdc1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Y TOR1AIP1* Tor1aip1   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy type 2Z POGLUT1* Poglut1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness MINAR2* Minar2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness STX4* Stx4a   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness CDH23* Cdh23   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness CLRN2* Clrn2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness GPR156* Gpr156   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness PKHD1L1* Pkhd1l1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness TMTC4* Tmtc4   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness AFG2B* Afg2b   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 100 PPIP5K2* Ppip5k2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 101 GRXCR2* Grxcr2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 102 EPS8* Eps8   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 103 CLIC5* Clic5   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 104 RIPOR2* Ripor2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 106 EPS8L2* Eps8l2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 107 WBP2* Wbp2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 108 ROR1* Ror1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 109 ESRP1* Esrp1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 110 COCH* Coch   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 111 MPZL2* Mpzl2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 112 BDP1* Bdp1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 113 CEACAM16* Ceacam16   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 114 GRAP*, GRAPL Grap   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 115 SPNS2* Spns2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 116 CLDN9* Cldn9   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 12 ATP2B2* Atp2b2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 15 GIPC3* Gipc3   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A GJB3* Gjb3   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1B GJB6* Gjb6   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 21 TECTA* Tecta   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 24 RDX* Rdx   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 25 GRXCR1* Grxcr1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 26 GAB1* Gab1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 35 ESRRB* Esrrb   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 36 ESPN* Espn   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4 FOXI1* Foxi1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4 KCNJ10* Kcnj10   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4 SLC26A4* Slc26a4   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 44 ADCY1* Adcy1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 53 COL11A2* Col11a2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 57 PDZD7* Pdzd7   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 6 TMIE* Tmie   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 61 SLC26A5* Slc26a5   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 66 DCDC2* Dcdc2a   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 67 LHFPL5* Lhfpl5   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 70 PNPT1* Pnpt1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 76 SYNE4* Syne4   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 77 LOXHD1* Loxhd1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 8 TMPRSS3* Tmprss3   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 84A PTPRQ* Ptprq   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 84B OTOGL* Otogl   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 86 TBC1D24* Tbc1d24 1 "NOT" model Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 89 KARS1* Kars1   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 91 SERPINB6* Serpinb6a, Serpinb6b, Serpinb6c, Serpinb6d, Serpinb6e   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 94 NARS2* Nars2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 97 MET* Met   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 98 TSPEAR* Tspear   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 99 TMEM132E* Tmem132e   Alliance of Genome Resources
autosomal recessive osteopetrosis 7 TNFRSF11A* Tnfrsf11a   Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia 1 POLG* Polg   Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 RNASEH1* Rnaseh1   Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 TK2* Tk2   Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 DGUOK* Dguok   Alliance of Genome Resources
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 TOP3A* Top3a   Alliance of Genome Resources
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 SLC25A38* Slc25a38   Alliance of Genome Resources
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 GLRX5* Glrx5   Alliance of Genome Resources
autosomal recessive Robinow syndrome 2 NXN* Nxn   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 10 ANO10* Ano10   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 11 SYT14* Syt14   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 14 SPTBN2* Sptbn2   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 15 RUBCN* Rubcn   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 17 CWF19L1* Cwf19l1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 19 SLC9A1* Slc9a1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 2 PMPCA* Pmpca   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 20 SNX14* Snx14   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 21 SCYL1* Scyl1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 22 VWA3B* Vwa3b   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 23 TDP2* Tdp2   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 24 UBA5* Uba5   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 25 ATG5* Atg5   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 26 XRCC1* Xrcc1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 27 GDAP2* Gdap2   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 28 THG1L* Thg1l   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 29 VPS41* Vps41   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 30 PITRM1* Pitrm1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 31 ATG7* Atg7   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 32 PRDX3* Prdx3   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 33 RNU12*  
autosomal recessive spinocerebellar ataxia 4 VPS13D* Vps13d   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 7 TPP1* Tpp1   Alliance of Genome Resources
autosomal recessive spinocerebellar ataxia 8 SYNE1* Syne1   Alliance of Genome Resources
autosomal recessive thrombophilia due to protein C deficiency PROC* Proc   Alliance of Genome Resources
autosomal recessive thrombophilia due to protein S deficiency PROS1* Pros1   Alliance of Genome Resources
autosomal recessive woolly hair 3 KRT25* Krt25   Alliance of Genome Resources
Axenfeld-Rieger syndrome PITX2* Pitx2   Alliance of Genome Resources
Axenfeld-Rieger syndrome FOXC1* Foxc1   Alliance of Genome Resources
Axenfeld-Rieger syndrome type 3 FOXC1* Foxc1   Alliance of Genome Resources
axial spondylometaphyseal dysplasia CFAP410* Cfap410   Alliance of Genome Resources
Ayme-Gripp syndrome MAF* Maf   Alliance of Genome Resources
Bainbridge-Ropers syndrome ASXL3* Asxl3   Alliance of Genome Resources
Baraitser-Winter syndrome 1 ACTB* Actb   Alliance of Genome Resources
Baraitser-Winter syndrome 2 ACTG1* Actg1   Alliance of Genome Resources
Bardet-Biedl syndrome BBS2* Bbs2   Alliance of Genome Resources
Bardet-Biedl syndrome BBS10* Bbs10   Alliance of Genome Resources
Bardet-Biedl syndrome BBS9* Bbs9   Alliance of Genome Resources
Bardet-Biedl syndrome BBS7* Bbs7   Alliance of Genome Resources
Bardet-Biedl syndrome ARL6* Arl6   Alliance of Genome Resources
Bardet-Biedl syndrome CCDC28B* Ccdc28b   Alliance of Genome Resources
Bardet-Biedl syndrome MKKS* Mkks   Alliance of Genome Resources
Bardet-Biedl syndrome MKS1* Mks1   Alliance of Genome Resources
Bardet-Biedl syndrome NPHP1* Nphp1   Alliance of Genome Resources
Bardet-Biedl syndrome TMEM67* Tmem67   Alliance of Genome Resources
Bardet-Biedl syndrome TRIM32* Trim32   Alliance of Genome Resources
Bardet-Biedl syndrome TTC8* Ttc8   Alliance of Genome Resources
Bardet-Biedl syndrome BBS1* Bbs1   Alliance of Genome Resources
Bardet-Biedl syndrome BBS5* Bbs5   Alliance of Genome Resources
Bardet-Biedl syndrome 1 CCDC28B* Ccdc28b   Alliance of Genome Resources
Bardet-Biedl syndrome 1 ARL6* Arl6   Alliance of Genome Resources
Bardet-Biedl syndrome 11 TRIM32* Trim32   Alliance of Genome Resources
Bardet-Biedl syndrome 12 BBS12* Bbs12   Alliance of Genome Resources
Bardet-Biedl syndrome 13 MKS1* Mks1   Alliance of Genome Resources
Bardet-Biedl syndrome 14 CEP290* Cep290   Alliance of Genome Resources
Bardet-Biedl syndrome 14 TMEM67* Tmem67   Alliance of Genome Resources
Bardet-Biedl syndrome 15 WDPCP* Wdpcp   Alliance of Genome Resources
Bardet-Biedl syndrome 19 IFT27* Ift27   Alliance of Genome Resources
Bardet-Biedl syndrome 20 IFT172* Ift172   Alliance of Genome Resources
Bardet-Biedl syndrome 21 CFAP418* Cfap418   Alliance of Genome Resources
Bardet-Biedl syndrome 22 IFT74* Ift74   Alliance of Genome Resources
Bardet-Biedl syndrome 7 BBS7* Bbs7   Alliance of Genome Resources
Bardet-Biedl syndrome 9 BBS9* Bbs9   Alliance of Genome Resources
Bart-Pumphrey syndrome GJB2* Gjb2   Alliance of Genome Resources
Bartter disease SLC12A1* Slc12a1   Alliance of Genome Resources
Bartter disease BSND* Bsnd   Alliance of Genome Resources
Bartter disease type 4b CLCNKA*, CLCNKB* Clcnka, Clcnkb   Alliance of Genome Resources
Bartter disease type 5 MAGED2* Maged2   Alliance of Genome Resources
basal laminar drusen CFH* Cfh, Cfhr4   Alliance of Genome Resources
Basilicata-Akhtar syndrome MSL3* Msl3   Alliance of Genome Resources
Becker disease CLCN1* Clcn1   Alliance of Genome Resources
Behr syndrome OPA1* Opa1   Alliance of Genome Resources
benign familial hematuria COL4A3* Col4a3   Alliance of Genome Resources
benign familial hematuria COL4A4* Col4a4   Alliance of Genome Resources
benign familial infantile seizures 2 PRRT2* Prrt2   Alliance of Genome Resources
benign familial infantile seizures 3 SCN2A* Scn2a   Alliance of Genome Resources
benign familial infantile seizures 5 SCN8A* Scn8a   Alliance of Genome Resources
benign familial infantile seizures 6 CHRNA2* Chrna2   Alliance of Genome Resources
benign recurrent intrahepatic cholestasis 1 ATP8B1* Atp8b1   Alliance of Genome Resources
benign recurrent intrahepatic cholestasis 2 ABCB11* Abcb11   Alliance of Genome Resources
Bernard-Soulier syndrome GP9* Gp9   Alliance of Genome Resources
Bernard-Soulier syndrome VWF* Vwf   Alliance of Genome Resources
Bernard-Soulier syndrome type A2 GP1BA* Gp1ba   Alliance of Genome Resources
beta-ketothiolase deficiency ACAT1* Acat1   Alliance of Genome Resources
beta thalassemia HBS1L* Hbs1l   Alliance of Genome Resources
beta thalassemia HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
beta thalassemia GSTT1* Gstt1   Alliance of Genome Resources
beta thalassemia GH1*, CSH1, CSH2, CSHL1, GH2 Gh   Alliance of Genome Resources
beta thalassemia COL1A1* Col1a1   Alliance of Genome Resources
beta thalassemia GATA1* Gata1   Alliance of Genome Resources
beta thalassemia BCL11A* Bcl11a   Alliance of Genome Resources
beta thalassemia TNF* Tnf   Alliance of Genome Resources
beta thalassemia HFE* Hfe   Alliance of Genome Resources
Beukes hip dysplasia UFSP2* Ufsp2   Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia C QDPR* Qdpr   Alliance of Genome Resources
BH4-deficient hyperphenylalaninemia D PCBD1* Pcbd1   Alliance of Genome Resources
bilateral frontoparietal polymicrogyria ADGRG1* Adgrg1   Alliance of Genome Resources
bilateral optic nerve hypoplasia PAX6* Pax6   Alliance of Genome Resources
bilateral parasagittal parieto-occipital polymicrogyria FIG4* Fig4   Alliance of Genome Resources
Birk-Barel syndrome KCNK9* Kcnk9   Alliance of Genome Resources
Birt-Hogg-Dube syndrome PRDM10* Prdm10   Alliance of Genome Resources
Bjornstad syndrome BCS1L* Bcs1l   Alliance of Genome Resources
Blau syndrome NOD2* Nod2   Alliance of Genome Resources
blepharocheilodontic syndrome 1 CDH1* Cdh1   Alliance of Genome Resources
blepharocheilodontic syndrome 2 CTNND1* Ctnnd1   Alliance of Genome Resources
blepharophimosis-impaired intellectual development syndrome SMARCA2* Smarca2   Alliance of Genome Resources
blue color blindness OPN1SW* Opn1sw   Alliance of Genome Resources
Bothnian type palmoplantar keratoderma AQP5* Aqp5   Alliance of Genome Resources
Boucher-Neuhauser syndrome PNPLA6* Pnpla6   Alliance of Genome Resources
brachycephaly, trichomegaly, and developmental delay RPS23* Rps23   Alliance of Genome Resources
brachydactyly-syndactyly syndrome HOXD13* Hoxd13   Alliance of Genome Resources
brachydactyly type A1 GDF5* Gdf5   Alliance of Genome Resources
brachydactyly type A1D BMPR1B* Bmpr1b   Alliance of Genome Resources
brachydactyly type A2 BMP2* Bmp2   Alliance of Genome Resources
brachydactyly type A2 BMPR1B* Bmpr1b   Alliance of Genome Resources
brachydactyly type D HOXD13* Hoxd13   Alliance of Genome Resources
bradyopsia 1 RGS9* Rgs9   Alliance of Genome Resources
bradyopsia 2 RGS9BP* Rgs9bp   Alliance of Genome Resources
brain small vessel disease 2 COL4A2* Col4a2   Alliance of Genome Resources
brain small vessel disease 3 COLGALT1* Colgalt1   Alliance of Genome Resources
branchiooculofacial syndrome TFAP2A* Tfap2a   Alliance of Genome Resources
branchiootorenal syndrome PAX1* Pax1   Alliance of Genome Resources
branchiootorenal syndrome 1 EYA1* Eya1   Alliance of Genome Resources
branchiootorenal syndrome 2 SIX5* Six5   Alliance of Genome Resources
brittle cornea syndrome 2 PRDM5* Prdm5   Alliance of Genome Resources
bronchiectasis 1 SCNN1B* Scnn1b   Alliance of Genome Resources
bronchiectasis 1 CFTR* Cftr   Alliance of Genome Resources
bronchiectasis 2 SCNN1A* Scnn1a   Alliance of Genome Resources
bronchiectasis 3 SCNN1G* Scnn1g   Alliance of Genome Resources
Brooke-Spiegler syndrome CYLD* Cyld   Alliance of Genome Resources
Brown-Vialetto-Van Laere syndrome 1 SLC52A3* Slc52a3   Alliance of Genome Resources
Brown-Vialetto-Van Laere syndrome 2 SLC52A2*, SLC52A1 Slc52a2   Alliance of Genome Resources
Brugada syndrome 2 GPD1L* Gpd1l   Alliance of Genome Resources
Brugada syndrome 3 CACNA1C* Cacna1c   Alliance of Genome Resources
Brugada syndrome 4 CACNB2* Cacnb2   Alliance of Genome Resources
Brugada syndrome 5 SCN1B* Scn1b   Alliance of Genome Resources
Brugada syndrome 6 KCNE3* Kcne3   Alliance of Genome Resources
Brugada syndrome 8 HCN4* Hcn4   Alliance of Genome Resources
Brugada syndrome 9 KCND3* Kcnd3   Alliance of Genome Resources
Buschke-Ollendorff syndrome LEMD3* Lemd3   Alliance of Genome Resources
CADASIL 2 HTRA1* Htra1   Alliance of Genome Resources
camptodactyly-arthropathy-coxa vara-pericarditis syndrome PRG4* Prg4   Alliance of Genome Resources
camptodactyly-tall stature-scoliosis-hearing loss syndrome FGFR3* Fgfr3   Alliance of Genome Resources
Camurati-Engelmann disease TGFB1* Tgfb1   Alliance of Genome Resources
carboxypeptidase N deficiency CPN1* Cpn1   Alliance of Genome Resources
cardiofaciocutaneous syndrome KRAS* Kras   Alliance of Genome Resources
cardiofaciocutaneous syndrome 1 BRAF* Braf   Alliance of Genome Resources
cardiofaciocutaneous syndrome 2 KRAS* Kras   Alliance of Genome Resources
cardiofaciocutaneous syndrome 3 MAP2K1* Map2k1   Alliance of Genome Resources
cardiofaciocutaneous syndrome 4 MAP2K2* Map2k2   Alliance of Genome Resources
Carney-Stratakis syndrome SDHC* Sdhc   Alliance of Genome Resources
Carney-Stratakis syndrome SDHB* Sdhb   Alliance of Genome Resources
Carney-Stratakis syndrome SDHD* Sdhd   Alliance of Genome Resources
carnitine-acylcarnitine translocase deficiency SLC25A20* Slc25a20   Alliance of Genome Resources
carpal tunnel syndrome 1 TTR* Ttr   Alliance of Genome Resources
carpal tunnel syndrome 2 COMP* Comp   Alliance of Genome Resources
cartilage-hair hypoplasia RMRP* Rmrp   Alliance of Genome Resources
cataract CRYGC* Crygc   Alliance of Genome Resources
cataract SOD1* Sod1   Alliance of Genome Resources
cataract GCNT2* Gcnt2   Alliance of Genome Resources
cataract PITX3* Pitx3   Alliance of Genome Resources
cataract OGG1* Ogg1   Alliance of Genome Resources
cataract NFE2L2* Nfe2l2   Alliance of Genome Resources
cataract MTHFR* Mthfr   Alliance of Genome Resources
cataract MIP* Mip   Alliance of Genome Resources
cataract MAF* Maf   Alliance of Genome Resources
cataract HSF4* Hsf4   Alliance of Genome Resources
cataract BCOR*, BCORP1 Bcor   Alliance of Genome Resources
cataract BFSP2* Bfsp2   Alliance of Genome Resources
cataract CRYBA1* Cryba1   Alliance of Genome Resources
cataract CRYBB1* Crybb1   Alliance of Genome Resources
cataract CRYBB2* Crybb2   Alliance of Genome Resources
cataract GALK1* Galk1   Alliance of Genome Resources
cataract GSTT1* Gstt1   Alliance of Genome Resources
cataract GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
cataract GJA8* Gja8   Alliance of Genome Resources
cataract AKR1B1* Akr1b1   Alliance of Genome Resources
cataract ALDH18A1* Aldh18a1   Alliance of Genome Resources
cataract 11 multiple types PITX3* Pitx3   Alliance of Genome Resources
cataract 12 multiple types BFSP2* Bfsp2   Alliance of Genome Resources
cataract 13 with adult i phenotype GCNT2* Gcnt2   Alliance of Genome Resources
cataract 17 multiple types CRYBB1* Crybb1   Alliance of Genome Resources
cataract 18 FYCO1* Fyco1   Alliance of Genome Resources
cataract 22 multiple types CRYBB3* Crybb3   Alliance of Genome Resources
cataract 23 CRYBA4* Cryba4   Alliance of Genome Resources
cataract 27 PAX6* Pax6   Alliance of Genome Resources
cataract 31 multiple types CHMP4B* Chmp4b   Alliance of Genome Resources
cataract 33 BFSP1* Bfsp1   Alliance of Genome Resources
cataract 34 multiple types FOXE3* Foxe3   Alliance of Genome Resources
cataract 36 TDRD7* Tdrd7   Alliance of Genome Resources
cataract 38 AGK* Agk   Alliance of Genome Resources
cataract 40 NHS* Nhs   Alliance of Genome Resources
cataract 41 WFS1* Wfs1   Alliance of Genome Resources
cataract 42 CRYBA2* Cryba2   Alliance of Genome Resources
cataract 43 UNC45B* Unc45b   Alliance of Genome Resources
cataract 44 LSS* Lss   Alliance of Genome Resources
cataract 45 SIPA1L3* Sipa1l3   Alliance of Genome Resources
cataract 46 juvenile-onset LEMD2* Lemd2   Alliance of Genome Resources
cataract 47 SLC16A12* Slc16a12   Alliance of Genome Resources
cataract 48 DNMBP* Dnmbp   Alliance of Genome Resources
cataract 7 CRYGD* Crygd, Cryge, Crygf   Alliance of Genome Resources
cataract 9 multiple types PITX3* Pitx3   Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia TRDN* Trdn   Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia 3 TECRL* Tecrl   Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia 4 CALM1* Calm1   Alliance of Genome Resources
catecholaminergic polymorphic ventricular tachycardia 5 TRDN* Trdn   Alliance of Genome Resources
CD40 ligand deficiency CD40LG* Cd40lg   Alliance of Genome Resources
central conducting lymphatic anomaly EPHB4* Ephb4   Alliance of Genome Resources
central precocious puberty 1 KISS1R* Kiss1r   Alliance of Genome Resources
centronuclear myopathy 1 MTMR14* Mtmr14   Alliance of Genome Resources
centronuclear myopathy 1 DNM2* Dnm2   Alliance of Genome Resources
centronuclear myopathy 2 BIN1* Bin1   Alliance of Genome Resources
centronuclear myopathy 4 CCDC78* Ccdc78   Alliance of Genome Resources
centronuclear myopathy 5 SPEG* Speg   Alliance of Genome Resources
centronuclear myopathy 6 with fiber-type disproportion MAP3K20* Map3k20   Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 VLDLR* Vldlr   Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 WDR81* Wdr81   Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 CA8* Car8   Alliance of Genome Resources
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 ATP8A2* Atp8a2   Alliance of Genome Resources
cerebellar ataxia type 41 TRPC3* Trpc3   Alliance of Genome Resources
cerebellar ataxia type 43 MME* Mme   Alliance of Genome Resources
cerebellar ataxia type 47 PUM1* Pum1   Alliance of Genome Resources
cerebellar ataxia type 48 STUB1* Stub1   Alliance of Genome Resources
cerebellar atrophy, visual impairment, and psychomotor retardation EMC1* Emc1   Alliance of Genome Resources
cerebellofaciodental syndrome BRF1* Brf1   Alliance of Genome Resources
cerebral folate receptor alpha deficiency FOLR1* Folr1   Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 1 ERCC6* Ercc6   Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 2 ERCC2* Ercc2   Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 3 ERCC5* Ercc5   Alliance of Genome Resources
cerebrooculofacioskeletal syndrome 4 ERCC1* Ercc1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C TRPV4* Trpv4   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2C GDAP1* Gdap1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2CC NEFH* Nefh   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2F HSPB1* Hspb1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K JPH1* Jph1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2L HSPB8* Hspb8   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2N AARS1* Aars1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2T MME* Mme   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2U MARS1* Mars1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2V NAGLU* Naglu   Alliance of Genome Resources
Charcot-Marie-Tooth disease, axonal type 2W HARS1* Hars1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2X SPG11* Spg11   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate A GBF1* Gbf1   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate B DNM2* Dnm2   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate D MPZ* Mpz   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate E INF2* Inf2   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate F GNB4* Gnb4   Alliance of Genome Resources
Charcot-Marie-Tooth disease dominant intermediate G NEFL* Nefl   Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate A GDAP1* Gdap1   Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate B KARS1* Kars1   Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate C PLEKHG5* Plekhg5   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1D EGR2* Egr2   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1F NEFL* Nefl   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 1G PMP2* Pmp2   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2A2B MFN2* Mfn2   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2B2 PNKP* Pnkp   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2DD ATP1A1* Atp1a1   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2EE MPV17* Mpv17   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2I MPZ* Mpz   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2J MPZ* Mpz   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2R TRIM2* Trim2   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2Y VCP* Vcp   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3 PRX* Prx   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 3 EGR2* Egr2   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4A GDAP1* Gdap1   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4F PRX* Prx   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4G HK1* Hk1   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 4K SURF1* Surf1   Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked dominant 6 PDK3* Pdk3   Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked recessive 4 AIFM1* Aifm1   Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked recessive 5 PRPS1* Prps1   Alliance of Genome Resources
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities MECR* Mecr   Alliance of Genome Resources
childhood-onset neurodegeneration with brain atrophy UBTF* Ubtf   Alliance of Genome Resources
CHILD syndrome NSDHL* Nsdhl   Alliance of Genome Resources
CHIME syndrome PIGL* Pigl   Alliance of Genome Resources
cholesterol ester storage disease LIPA* Lipa   Alliance of Genome Resources
chondrodysplasia punctata ARSL*  
chondrodysplasia punctata EBP* Ebp   Alliance of Genome Resources
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia HDAC6* Hdac6   Alliance of Genome Resources
chromosome 15q24 deletion syndrome SIN3A* Sin3a   Alliance of Genome Resources
CK syndrome NSDHL* Nsdhl   Alliance of Genome Resources
Clark-Baraitser syndrome TRIP12* Trip12   Alliance of Genome Resources
classic dopamine transporter deficiency syndrome SLC6A3* Slc6a3   Alliance of Genome Resources
classic galactosemia GALT* Galt   Alliance of Genome Resources
cleft lip-palate-ectodermal dysplasia syndrome NECTIN1* Nectin1 3 "NOT" models Alliance of Genome Resources
cleft palate, cardiac defects, and intellectual disabillity MEIS2* Meis2   Alliance of Genome Resources
COACH syndrome TMEM67* Tmem67   Alliance of Genome Resources
Cockayne syndrome A ERCC8* Ercc8   Alliance of Genome Resources
Cockayne syndrome B ERCC6* Ercc6   Alliance of Genome Resources
CODAS syndrome LONP1* Lonp1   Alliance of Genome Resources
Coffin-Siris syndrome ARID1B* Arid1b   Alliance of Genome Resources
Coffin-Siris syndrome 10 SOX4* Sox4   Alliance of Genome Resources
Coffin-Siris syndrome 11 SMARCD1* Smarcd1   Alliance of Genome Resources
Coffin-Siris syndrome 12 BICRA* Bicra   Alliance of Genome Resources
Coffin-Siris syndrome 2 ARID1A* Arid1a   Alliance of Genome Resources
Coffin-Siris syndrome 3 SMARCB1* Smarcb1   Alliance of Genome Resources
Coffin-Siris syndrome 4 SMARCA4* Smarca4   Alliance of Genome Resources
Coffin-Siris syndrome 5 SMARCE1* Smarce1   Alliance of Genome Resources
Coffin-Siris syndrome 6 ARID2* Arid2   Alliance of Genome Resources
Coffin-Siris syndrome 7 DPF2* Dpf2   Alliance of Genome Resources
Coffin-Siris syndrome 8 SMARCC2* Smarcc2   Alliance of Genome Resources
Coffin-Siris syndrome 9 SOX11* Sox11   Alliance of Genome Resources
cold-induced sweating syndrome 1 CRLF1* Crlf1   Alliance of Genome Resources
cold-induced sweating syndrome 2 CLCF1* Clcf1   Alliance of Genome Resources
cold-induced sweating syndrome 3 KLHL7* Klhl7   Alliance of Genome Resources
combined cellular and humoral immune defects with granulomas RAG1* Rag1   Alliance of Genome Resources
combined cellular and humoral immune defects with granulomas RAG2* Rag2   Alliance of Genome Resources
combined D-2- and L-2-hydroxyglutaric aciduria SLC25A1* Slc25a1   Alliance of Genome Resources
combined deficiency of vitamin K-dependent clotting factors 1 GGCX* Ggcx   Alliance of Genome Resources
combined deficiency of vitamin K-dependent clotting factors 2 VKORC1* Vkorc1   Alliance of Genome Resources
combined malonic and methylmalonic acidemia ACSF3* Acsf3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 1 GFM1* Gfm1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 10 MTO1* Mto1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 11 RMND1* Rmnd1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 12 EARS2* Ears2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 13 PNPT1* Pnpt1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 14 FARS2* Fars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 15 MTFMT* Mtfmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 16 MRPL44* Mrpl44   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 17 ELAC2* Elac2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 18 SFXN4* Sfxn4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 19 LYRM4* Lyrm4   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 2 MRPS16* Mrps16   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 20 VARS2* Vars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 21 TARS2* Tars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 22 ATP5F1A* Atp5f1a   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 23 GTPBP3* Gtpbp3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 24 NARS2* Nars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 25 MARS2* Mars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 26 TRMT5* Trmt5   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 27 CARS2* Cars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 28 SLC25A26* Slc25a26   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 29 TXN2* Txn2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 3 TSFM* Tsfm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 30 TRMT10C* Trmt10c   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 31 MIPEP* Mipep   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 32 MRPS34* Mrps34   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 33 C1QBP* C1qbp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 34 MRPS7* Mrps7   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 35 TRIT1* Trit1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 36 MRPS2* Mrps2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 37 MICOS13* Micos13   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 38 MRPS14* Mrps14   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 39 GFM2* Gfm2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 4 TUFM* Tufm   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 40 QRSL1* Qrsl1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 41 GATB* Gatb   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 42 GATC* Gatc   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 43 TIMM22* Timm22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 44 FASTKD2* Fastkd2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 45 MRPL12* Mrpl12   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 46 MRPS23* Mrps23   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 47 MRPS28* Mrps28   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 48 NSUN3* Nsun3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 49 MIEF2* Mief2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 5 MRPS22* Mrps22   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 50 MRPS25* Mrps25   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 51 PTCD3* Ptcd3   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 52 NFS1* Nfs1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 53 C2orf69* 1700066M21Rik   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 54 PRORP* Prorp   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 55 POLRMT* Polrmt   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 56 TAMM41* Tamm41   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 57 CRLS1* Crls1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 6 AIFM1* Aifm1   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 7 MTRFR* Mtrfr   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 8 AARS2* Aars2   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 9 MRPL3* Mrpl3   Alliance of Genome Resources
common variable immunodeficiency MBL2* Mbl2   Alliance of Genome Resources
common variable immunodeficiency IL21R* Il21r   Alliance of Genome Resources
common variable immunodeficiency DCLRE1C* Dclre1c   Alliance of Genome Resources
common variable immunodeficiency HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
common variable immunodeficiency SEC61A1* Sec61a1   Alliance of Genome Resources
common variable immunodeficiency 1 ICOS* Icos   Alliance of Genome Resources
common variable immunodeficiency 10 NFKB2* Nfkb2   Alliance of Genome Resources
common variable immunodeficiency 11 IL21* Il21   Alliance of Genome Resources
common variable immunodeficiency 12 NFKB1* Nfkb1   Alliance of Genome Resources
common variable immunodeficiency 13 IKZF1* Ikzf1   Alliance of Genome Resources
common variable immunodeficiency 14 IRF2BP2* Irf2bp2   Alliance of Genome Resources
common variable immunodeficiency 2 TNFRSF13B* Tnfrsf13b   Alliance of Genome Resources
common variable immunodeficiency 3 CD19* Cd19   Alliance of Genome Resources
common variable immunodeficiency 4 TNFRSF13C* Tnfrsf13c   Alliance of Genome Resources
common variable immunodeficiency 5 MS4A1* Ms4a1   Alliance of Genome Resources
common variable immunodeficiency 6 CD81* Cd81   Alliance of Genome Resources
common variable immunodeficiency 7 CR2* Cr2   Alliance of Genome Resources
common variable immunodeficiency 8 LRBA* Lrba   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations CAMSAP1* Camsap1   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations APC2* Apc2   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations CTNNA2* Ctnna2   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations KIF26A* Kif26a   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 1 TUBB3* Tubb3   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 2 KIF5C* Kif5c   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 3 KIF2A* Kif2a   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 5 TUBB2A* Tubb2a   Alliance of Genome Resources
complex cortical dysplasia with other brain malformations 6 TUBB* Tubb5   Alliance of Genome Resources
cone-rod dystrophy CRB1* Crb1   Alliance of Genome Resources
cone-rod dystrophy PDE6C* Pde6c   Alliance of Genome Resources
cone-rod dystrophy 10 SEMA4A* Sema4a   Alliance of Genome Resources
cone-rod dystrophy 11 RAX2*  
cone-rod dystrophy 12 PROM1* Prom1   Alliance of Genome Resources
cone-rod dystrophy 13 RPGRIP1* Rpgrip1   Alliance of Genome Resources
cone-rod dystrophy 14 GUCA1A* Guca1a   Alliance of Genome Resources
cone-rod dystrophy 15 CDHR1* Cdhr1   Alliance of Genome Resources
cone-rod dystrophy 19 TTLL5* Ttll5   Alliance of Genome Resources
cone-rod dystrophy 20 POC1B* Poc1b   Alliance of Genome Resources
cone-rod dystrophy 21 DRAM2* Dram2   Alliance of Genome Resources
cone-rod dystrophy 22 TLCD3B* Tlcd3b   Alliance of Genome Resources
cone-rod dystrophy 24 UNC119* Unc119   Alliance of Genome Resources
cone-rod dystrophy 5 PITPNM3* Pitpnm3   Alliance of Genome Resources
congenital adrenal insufficiency CYP11A1* Cyp11a1   Alliance of Genome Resources
congenital afibrinogenemia FGA* Fga   Alliance of Genome Resources
congenital afibrinogenemia FGB* Fgb   Alliance of Genome Resources
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay SON* Son   Alliance of Genome Resources
congenital bilateral absence of vas deferens CFTR* Cftr   Alliance of Genome Resources
congenital central hypoventilation syndrome BDNF* Bdnf   Alliance of Genome Resources
congenital central hypoventilation syndrome MYO1H* Myo1h   Alliance of Genome Resources
congenital central hypoventilation syndrome LBX1* Lbx1   Alliance of Genome Resources
congenital contractural arachnodactyly FBN2* Fbn2   Alliance of Genome Resources
congenital diarrhea 6 GUCY2C* Gucy2c   Alliance of Genome Resources
congenital diarrhea 7 with exudative enteropathy DGAT1* Dgat1   Alliance of Genome Resources
congenital disorder of deglycosylation 1 NGLY1* Ngly1   Alliance of Genome Resources
congenital disorder of glycosylation Ia PMM2* Pmm2   Alliance of Genome Resources
congenital disorder of glycosylation Iaa NUS1* Nus1   Alliance of Genome Resources
congenital disorder of glycosylation Ib MPI* Mpi   Alliance of Genome Resources
congenital disorder of glycosylation Ic ALG6* Alg6   Alliance of Genome Resources
congenital disorder of glycosylation Icc MAGT1* Magt1   Alliance of Genome Resources
congenital disorder of glycosylation Id ALG3* Alg3   Alliance of Genome Resources
congenital disorder of glycosylation Ie DPM1* Dpm1   Alliance of Genome Resources
congenital disorder of glycosylation If MPDU1* Mpdu1   Alliance of Genome Resources
congenital disorder of glycosylation Ig ALG12* Alg12   Alliance of Genome Resources
congenital disorder of glycosylation Ih ALG8* Alg8   Alliance of Genome Resources
congenital disorder of glycosylation Ii ALG2* Alg2   Alliance of Genome Resources
congenital disorder of glycosylation Ij DPAGT1* Dpagt1   Alliance of Genome Resources
congenital disorder of glycosylation Ik ALG1*, ALG1L1P, ALG1L2 Alg1   Alliance of Genome Resources
congenital disorder of glycosylation Il ALG9* Alg9   Alliance of Genome Resources
congenital disorder of glycosylation Im DOLK* Dolk   Alliance of Genome Resources
congenital disorder of glycosylation In RFT1* Rft1   Alliance of Genome Resources
congenital disorder of glycosylation Ip ALG11* Alg11   Alliance of Genome Resources
congenital disorder of glycosylation Iq SRD5A3* Srd5a3   Alliance of Genome Resources
congenital disorder of glycosylation Ir DDOST* Ddost   Alliance of Genome Resources
congenital disorder of glycosylation It PGM1* Pgm1   Alliance of Genome Resources
congenital disorder of glycosylation Iu DPM2* Dpm2   Alliance of Genome Resources
congenital disorder of glycosylation Iw STT3A* Stt3a   Alliance of Genome Resources
congenital disorder of glycosylation Ix STT3B* Stt3b   Alliance of Genome Resources
congenital disorder of glycosylation Iy SSR4* Ssr4   Alliance of Genome Resources
congenital disorder of glycosylation type IIb MOGS* Mogs   Alliance of Genome Resources
congenital disorder of glycosylation type IId B4GALT1* B4galt1   Alliance of Genome Resources
congenital disorder of glycosylation type IIe COG7* Cog7   Alliance of Genome Resources
congenital disorder of glycosylation type IIf SLC35A1* Slc35a1   Alliance of Genome Resources
congenital disorder of glycosylation type IIg COG1* Cog1   Alliance of Genome Resources
congenital disorder of glycosylation type IIh COG8* Cog8   Alliance of Genome Resources
congenital disorder of glycosylation type IIi COG5* Cog5   Alliance of Genome Resources
congenital disorder of glycosylation type IIj COG4* Cog4   Alliance of Genome Resources
congenital disorder of glycosylation type IIk TMEM165* Tmem165   Alliance of Genome Resources
congenital disorder of glycosylation type IIl COG6* Cog6   Alliance of Genome Resources
congenital disorder of glycosylation type IIm SLC35A2* Slc35a2   Alliance of Genome Resources
congenital disorder of glycosylation type IIn SLC39A8* Slc39a8   Alliance of Genome Resources
congenital disorder of glycosylation type IIo CCDC115* Ccdc115   Alliance of Genome Resources
congenital disorder of glycosylation type IIp TMEM199* Tmem199   Alliance of Genome Resources
congenital disorder of glycosylation type IIq COG2* Cog2   Alliance of Genome Resources
congenital dyserythropoietic anemia type Ia CDAN1* Cdan1   Alliance of Genome Resources
congenital dyserythropoietic anemia type Ib CDIN1* Cdin1   Alliance of Genome Resources
congenital dyserythropoietic anemia type II SEC23B* Sec23b   Alliance of Genome Resources
congenital dyserythropoietic anemia type IV KLF1* Klf1   Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 1 KIF21A* Kif21a   Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 2 PHOX2A* Phox2a   Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 3A TUBB3* Tubb3   Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 5 COL25A1* Col25a1   Alliance of Genome Resources
congenital generalized lipodystrophy PCYT1A* Pcyt1a   Alliance of Genome Resources
congenital generalized lipodystrophy type 3 CAV1* Cav1   Alliance of Genome Resources
congenital glutamine deficiency GLUL* Glul   Alliance of Genome Resources
congenital heart defects, hamartomas of tongue, and polysyndactyly WDPCP* Wdpcp   Alliance of Genome Resources
congenital hypotrichosis with juvenile macular dystrophy CDH3* Cdh3   Alliance of Genome Resources
congenital lactase deficiency LCT* Lct   Alliance of Genome Resources
congenital leptin deficiency LEP* Lep   Alliance of Genome Resources
congenital limbs-face contractures-hypotonia-developmental delay syndrome NALCN* Nalcn   Alliance of Genome Resources
congenital malabsorptive diarrhea 4 NEUROG3* Neurog3   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy A14 GMPPB* Gmppb   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy A7 CRPPA* Crppa   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A1 POMT1* Pomt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A10 RXYLT1* Rxylt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A11 B3GALNT2* B3galnt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A12 POMK* Pomk   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A13 B4GAT1* B4gat1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A2 POMT2* Pomt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A3 POMGNT1* Pomgnt1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A5 FKRP* Fkrp   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A6 LARGE1* Large1   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A8 POMGNT2* Pomgnt2   Alliance of Genome Resources
congenital muscular dystrophy-dystroglycanopathy type A9 DAG1* Dag1   Alliance of Genome Resources
congenital muscular dystrophy with cataracts and intellectual disability INPP5K* Inpp5k   Alliance of Genome Resources
congenital myasthenic syndrome 13 DPAGT1* Dpagt1   Alliance of Genome Resources
congenital myasthenic syndrome 14 ALG2* Alg2   Alliance of Genome Resources
congenital myasthenic syndrome 15 ALG14* Alg14   Alliance of Genome Resources
congenital myasthenic syndrome 16 SCN4A* Scn4a   Alliance of Genome Resources
congenital myasthenic syndrome 17 LRP4* Lrp4   Alliance of Genome Resources
congenital myasthenic syndrome 18 SNAP25* Snap25   Alliance of Genome Resources
congenital myasthenic syndrome 1A CHRNA1* Chrna1   Alliance of Genome Resources
congenital myasthenic syndrome 1A CAST* Cast   Alliance of Genome Resources
congenital myasthenic syndrome 1B CHRNA1* Chrna1   Alliance of Genome Resources
congenital myasthenic syndrome 20 SLC5A7* Slc5a7   Alliance of Genome Resources
congenital myasthenic syndrome 21 SLC18A3* Slc18a3   Alliance of Genome Resources
congenital myasthenic syndrome 22 PREPL* Prepl   Alliance of Genome Resources
congenital myasthenic syndrome 2A CHRNB1* Chrnb1   Alliance of Genome Resources
congenital myasthenic syndrome 2C CHRNB1* Chrnb1   Alliance of Genome Resources
congenital myasthenic syndrome 3B CHRND* Chrnd   Alliance of Genome Resources
congenital myasthenic syndrome 3C CHRND* Chrnd   Alliance of Genome Resources
congenital myasthenic syndrome 4B CHRNE* Chrne   Alliance of Genome Resources
congenital myasthenic syndrome 7 SYT2* Syt2   Alliance of Genome Resources
congenital myopathy 10B MEGF10* Megf10   Alliance of Genome Resources
congenital myopathy 14 MYL1* Myl1   Alliance of Genome Resources
congenital myopathy 15 TNNC2* Tnnc2   Alliance of Genome Resources
congenital myopathy 16 MYBPC1* Mybpc1   Alliance of Genome Resources
congenital myopathy 17 MYOD1* Myod1   Alliance of Genome Resources
congenital myopathy 18 CACNA1S* Cacna1s   Alliance of Genome Resources
congenital myopathy 19 PAX7* Pax7   Alliance of Genome Resources
congenital myopathy 20 RYR3* Ryr3   Alliance of Genome Resources
congenital myopathy 21 DNAJB4* Dnajb4   Alliance of Genome Resources
congenital myopathy 22A SCN4A* Scn4a   Alliance of Genome Resources
congenital myopathy 22B SCN4A* Scn4a   Alliance of Genome Resources
congenital myopathy 2B ACTA1* Acta1   Alliance of Genome Resources
congenital myopathy 2C ACTA1* Acta1   Alliance of Genome Resources
congenital myopathy 4A TPM3* Tpm3   Alliance of Genome Resources
congenital myopathy 5 TTN* Ttn   Alliance of Genome Resources
congenital myopathy 6 MYH2* Myh2   Alliance of Genome Resources
congenital myopathy 8 ACTN2* Actn2   Alliance of Genome Resources
congenital myopathy 9A FXR1* Fxr1   Alliance of Genome Resources
congenital myopathy 9B FXR1* Fxr1   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 2 PAX8* Pax8   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 4 TSHB* Tshb   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 5 NKX2-5* Nkx2-5   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 6 THRA* Thra   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 7 TRHR* Trhr   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 8 TBL1X*, TBL1Y Tbl1x   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 9 IRS4* Irs4   Alliance of Genome Resources
congenital secretory sodium diarrhea 3 SPINT2* Spint2 1 model Alliance of Genome Resources
congenital secretory sodium diarrhea 8 SLC9A3* Slc9a3   Alliance of Genome Resources
congenital stationary night blindness 1G GNAT1* Gnat1   Alliance of Genome Resources
congenital stationary night blindness 1H GNB3* Gnb3   Alliance of Genome Resources
congenital stationary night blindness autosomal dominant 3 GNAT1* Gnat1   Alliance of Genome Resources
congenital sucrase-isomaltase deficiency SI* Sis   Alliance of Genome Resources
congenital symmetric circumferential skin creases 1 TUBB* Tubb5   Alliance of Genome Resources
congenital symmetric circumferential skin creases 2 MAPRE2* Mapre2   Alliance of Genome Resources
congenital vertical talus HOXD10* Hoxd10   Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome CHRNG* Chrng   Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MYH3* Myh3   Alliance of Genome Resources
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B MYH3* Myh3   Alliance of Genome Resources
corneal dystrophy-perceptive deafness syndrome SLC4A11* Slc4a11   Alliance of Genome Resources
Cornelia de Lange syndrome NIPBL* Nipbl   Alliance of Genome Resources
Cornelia de Lange syndrome 2 SMC1A* Smc1a   Alliance of Genome Resources
Cornelia de Lange syndrome 4 RAD21* Rad21   Alliance of Genome Resources
Cornelia de Lange syndrome 6 BRD4* Brd4   Alliance of Genome Resources
corpus callosum agenesis-abnormal genitalia syndrome ARX* Arx   Alliance of Genome Resources
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome IGBP1*, IGBP1C Igbp1   Alliance of Genome Resources
corticosterone methyloxidase deficiency 1 CYP11B2*, CYP11B1 Cyp11b1, Cyp11b2   Alliance of Genome Resources
cortisone reductase deficiency 1 H6PD* H6pd   Alliance of Genome Resources
cranioectodermal dysplasia 1 IFT122* Ift122   Alliance of Genome Resources
cranioectodermal dysplasia 2 WDR35* Wdr35   Alliance of Genome Resources
cranioectodermal dysplasia 3 IFT43* Ift43   Alliance of Genome Resources
cranioectodermal dysplasia 4 WDR19* Wdr19   Alliance of Genome Resources
craniofacial-deafness-hand syndrome PAX3* Pax3   Alliance of Genome Resources
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 TMCO1* Tmco1   Alliance of Genome Resources
craniolenticulosutural dysplasia SEC23A* Sec23a   Alliance of Genome Resources
Crouzon syndrome-acanthosis nigricans syndrome FGFR3* Fgfr3   Alliance of Genome Resources
CST3-related cerebral amyloid angiopathy CST3* Cst3   Alliance of Genome Resources
C syndrome CD96* Cd96   Alliance of Genome Resources
Culler-Jones syndrome GLI2* Gli2   Alliance of Genome Resources
Currarino syndrome MNX1* Mnx1   Alliance of Genome Resources
cystic fibrosis IL1B* Il1b   Alliance of Genome Resources
cystic fibrosis TLR9* Tlr9   Alliance of Genome Resources
cystic fibrosis TNF* Tnf   Alliance of Genome Resources
cystic fibrosis TGFB1* Tgfb1   Alliance of Genome Resources
cystic fibrosis SERPINA3* Serpina3a, Serpina3b, Serpina3c, Serpina3f, Serpina3g, Serpina3i, Serpina3j, Serpina3k, Serpina3m, Serpina3n   Alliance of Genome Resources
cystic fibrosis PTX3* Ptx3   Alliance of Genome Resources
cystic fibrosis PTGS2* Ptgs2   Alliance of Genome Resources
cystic fibrosis NOS3* Nos3   Alliance of Genome Resources
cystic fibrosis NOS1* Nos1   Alliance of Genome Resources
cystic fibrosis MPO* Mpo   Alliance of Genome Resources
cystic fibrosis MIF* Mif   Alliance of Genome Resources
cystic fibrosis MBL2* Mbl2   Alliance of Genome Resources
cystic fibrosis LTA* Lta   Alliance of Genome Resources
cystic fibrosis TLR5* Tlr5   Alliance of Genome Resources
cystic fibrosis HSPA1A*, HSPA1B Hspa1a, Hspa1b   Alliance of Genome Resources
cystic fibrosis HFE* Hfe   Alliance of Genome Resources
cystic fibrosis GSTT1* Gstt1   Alliance of Genome Resources
cystic fibrosis GSTM3* Gstm5   Alliance of Genome Resources
cystic fibrosis GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
cystic fibrosis GCLC* Gclc   Alliance of Genome Resources
cystic fibrosis FCGR2A*, FCGR2B, FCGR2C Fcgr2b, Fcgr3   Alliance of Genome Resources
cystic fibrosis FAS* Fas   Alliance of Genome Resources
cystic fibrosis CYP1A1* Cyp1a1   Alliance of Genome Resources
cystic fibrosis CD14* Cd14   Alliance of Genome Resources
cystic fibrosis AGER* Ager   Alliance of Genome Resources
cystic fibrosis ADRB2* Adrb2   Alliance of Genome Resources
cytochrome P450 oxidoreductase deficiency POR* Por   Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 1 D2HGDH* D2hgdh   Alliance of Genome Resources
D-2-hydroxyglutaric aciduria 2 IDH2* Idh2   Alliance of Genome Resources
deafness, dystonia, and cerebral hypomyelination BCAP31* Bcap31   Alliance of Genome Resources
dehydrated hereditary stomatocytosis 1 PIEZO1* Piezo1   Alliance of Genome Resources
dehydrated hereditary stomatocytosis 2 KCNN4* Kcnn4   Alliance of Genome Resources
delta beta-thalassemia HBG1*, HBG2*, HBE1 Hbb-bh0, Hbb-bh1, Hbb-y   Alliance of Genome Resources
delta beta-thalassemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
dentatorubral-pallidoluysian atrophy ATN1* Atn1   Alliance of Genome Resources
Dent disease 1 CLCN5* Clcn5   Alliance of Genome Resources
Dent disease 2 OCRL* Ocrl   Alliance of Genome Resources
dentinogenesis imperfecta COL1A1* Col1a1   Alliance of Genome Resources
dermatopathia pigmentosa reticularis KRT14* Krt14   Alliance of Genome Resources
De Sanctis-Cacchione syndrome ERCC6* Ercc6   Alliance of Genome Resources
DeSanto-Shinawi syndrome WAC* Wac   Alliance of Genome Resources
developmental and epileptic encephalopathy 1 ARX* Arx   Alliance of Genome Resources
developmental and epileptic encephalopathy 100 FBXO28* Fbxo28   Alliance of Genome Resources
developmental and epileptic encephalopathy 101 GRIN1* Grin1   Alliance of Genome Resources
developmental and epileptic encephalopathy 102 SLC38A3* Slc38a3   Alliance of Genome Resources
developmental and epileptic encephalopathy 103 KCNC2* Kcnc2   Alliance of Genome Resources
developmental and epileptic encephalopathy 104 ATP6V0A1* Atp6v0a1   Alliance of Genome Resources
developmental and epileptic encephalopathy 105 HID1* Hid1   Alliance of Genome Resources
developmental and epileptic encephalopathy 106 UFSP2* Ufsp2   Alliance of Genome Resources
developmental and epileptic encephalopathy 107 NAPB* Napb   Alliance of Genome Resources
developmental and epileptic encephalopathy 108 MAST3* Mast3   Alliance of Genome Resources
developmental and epileptic encephalopathy 109 FZR1* Fzr1   Alliance of Genome Resources
developmental and epileptic encephalopathy 11 SCN2A* Scn2a   Alliance of Genome Resources
developmental and epileptic encephalopathy 110 CACNA2D1* Cacna2d1   Alliance of Genome Resources
developmental and epileptic encephalopathy 116 GLUL* Glul   Alliance of Genome Resources
developmental and epileptic encephalopathy 12 PLCB1* Plcb1   Alliance of Genome Resources
developmental and epileptic encephalopathy 13 SCN8A* Scn8a   Alliance of Genome Resources
developmental and epileptic encephalopathy 15 ST3GAL3* St3gal3   Alliance of Genome Resources
developmental and epileptic encephalopathy 18 SZT2* Szt2   Alliance of Genome Resources
developmental and epileptic encephalopathy 19 GABRA1* Gabra1   Alliance of Genome Resources
developmental and epileptic encephalopathy 21 NECAP1* Necap1   Alliance of Genome Resources
developmental and epileptic encephalopathy 23 DOCK7* Dock7   Alliance of Genome Resources
developmental and epileptic encephalopathy 24 HCN1* Hcn1   Alliance of Genome Resources
developmental and epileptic encephalopathy 25 SLC13A5* Slc13a5   Alliance of Genome Resources
developmental and epileptic encephalopathy 26 KCNB1* Kcnb1   Alliance of Genome Resources
developmental and epileptic encephalopathy 27 GRIN2B* Grin2b   Alliance of Genome Resources
developmental and epileptic encephalopathy 28 WWOX* Wwox   Alliance of Genome Resources
developmental and epileptic encephalopathy 29 AARS1* Aars1   Alliance of Genome Resources
developmental and epileptic encephalopathy 3 SLC25A22* Slc25a22   Alliance of Genome Resources
developmental and epileptic encephalopathy 30 SIK1* Sik1   Alliance of Genome Resources
developmental and epileptic encephalopathy 31A DNM1* Dnm1   Alliance of Genome Resources
developmental and epileptic encephalopathy 31B DNM1* Dnm1   Alliance of Genome Resources
developmental and epileptic encephalopathy 32 KCNA2* Kcna2   Alliance of Genome Resources
developmental and epileptic encephalopathy 33 EEF1A2* Eef1a2   Alliance of Genome Resources
developmental and epileptic encephalopathy 34 SLC12A5* Slc12a5   Alliance of Genome Resources
developmental and epileptic encephalopathy 35 ITPA* Itpa   Alliance of Genome Resources
developmental and epileptic encephalopathy 36 ALG13* Alg13   Alliance of Genome Resources
developmental and epileptic encephalopathy 37 FRRS1L* Frrs1l   Alliance of Genome Resources
developmental and epileptic encephalopathy 38 ARV1* Arv1   Alliance of Genome Resources
developmental and epileptic encephalopathy 4 STXBP1* Stxbp1   Alliance of Genome Resources
developmental and epileptic encephalopathy 40 GUF1* Guf1   Alliance of Genome Resources
developmental and epileptic encephalopathy 41 SLC1A2* Slc1a2   Alliance of Genome Resources
developmental and epileptic encephalopathy 42 CACNA1A* Cacna1a   Alliance of Genome Resources
developmental and epileptic encephalopathy 43 GABRB3* Gabrb3   Alliance of Genome Resources
developmental and epileptic encephalopathy 44 UBA5* Uba5   Alliance of Genome Resources
developmental and epileptic encephalopathy 45 GABRB1* Gabrb1   Alliance of Genome Resources
developmental and epileptic encephalopathy 46 GRIN2D* Grin2d   Alliance of Genome Resources
developmental and epileptic encephalopathy 47 FGF12* Fgf12   Alliance of Genome Resources
developmental and epileptic encephalopathy 48 AP3B2* Ap3b2   Alliance of Genome Resources
developmental and epileptic encephalopathy 49 DENND5A* Dennd5a   Alliance of Genome Resources
developmental and epileptic encephalopathy 5 SPTAN1* Sptan1   Alliance of Genome Resources
developmental and epileptic encephalopathy 50 CAD* Cad   Alliance of Genome Resources
developmental and epileptic encephalopathy 51 MDH2* Mdh2   Alliance of Genome Resources
developmental and epileptic encephalopathy 52 SCN1B* Scn1b   Alliance of Genome Resources
developmental and epileptic encephalopathy 53 SYNJ1* Synj1   Alliance of Genome Resources
developmental and epileptic encephalopathy 55 PIGP* Pigp   Alliance of Genome Resources
developmental and epileptic encephalopathy 56 YWHAG* Ywhag   Alliance of Genome Resources
developmental and epileptic encephalopathy 57 KCNT2* Kcnt2   Alliance of Genome Resources
developmental and epileptic encephalopathy 58 NTRK2* Ntrk2   Alliance of Genome Resources
developmental and epileptic encephalopathy 59 GABBR2* Gabbr2   Alliance of Genome Resources
developmental and epileptic encephalopathy 60 CNPY3* Cnpy3   Alliance of Genome Resources
developmental and epileptic encephalopathy 61 ADAM22* Adam22   Alliance of Genome Resources
developmental and epileptic encephalopathy 62 SCN3A* Scn3a   Alliance of Genome Resources
developmental and epileptic encephalopathy 63 CPLX1* Cplx1   Alliance of Genome Resources
developmental and epileptic encephalopathy 64 RHOBTB2* Rhobtb2   Alliance of Genome Resources
developmental and epileptic encephalopathy 65 CYFIP2* Cyfip2   Alliance of Genome Resources
developmental and epileptic encephalopathy 66 PACS2* Pacs2   Alliance of Genome Resources
developmental and epileptic encephalopathy 67 CUX2* Cux2   Alliance of Genome Resources
developmental and epileptic encephalopathy 68 TRAK1* Trak1   Alliance of Genome Resources
developmental and epileptic encephalopathy 69 CACNA1E* Cacna1e   Alliance of Genome Resources
developmental and epileptic encephalopathy 6B SCN1A* Scn1a   Alliance of Genome Resources
developmental and epileptic encephalopathy 70 PHACTR1* Phactr1   Alliance of Genome Resources
developmental and epileptic encephalopathy 71 GLS* Gls   Alliance of Genome Resources
developmental and epileptic encephalopathy 72 NEUROD2* Neurod2   Alliance of Genome Resources
developmental and epileptic encephalopathy 73 RNF13* Rnf13   Alliance of Genome Resources
developmental and epileptic encephalopathy 74 GABRG2* Gabrg2   Alliance of Genome Resources
developmental and epileptic encephalopathy 75 PARS2* Pars2   Alliance of Genome Resources
developmental and epileptic encephalopathy 76 ACTL6B* Actl6b   Alliance of Genome Resources
developmental and epileptic encephalopathy 78 GABRA2* Gabra2   Alliance of Genome Resources
developmental and epileptic encephalopathy 79 GABRA5* Gabra5   Alliance of Genome Resources
developmental and epileptic encephalopathy 8 ARHGEF9* Arhgef9   Alliance of Genome Resources
developmental and epileptic encephalopathy 80 PIGB* Pigb   Alliance of Genome Resources
developmental and epileptic encephalopathy 81 DMXL2* Dmxl2   Alliance of Genome Resources
developmental and epileptic encephalopathy 82 GOT2* Got2   Alliance of Genome Resources
developmental and epileptic encephalopathy 83 UGP2* Ugp2   Alliance of Genome Resources
developmental and epileptic encephalopathy 84 UGDH* Ugdh   Alliance of Genome Resources
developmental and epileptic encephalopathy 85 SMC1A* Smc1a   Alliance of Genome Resources
developmental and epileptic encephalopathy 86 DALRD3* Dalrd3   Alliance of Genome Resources
developmental and epileptic encephalopathy 87 CDK19* Cdk19   Alliance of Genome Resources
developmental and epileptic encephalopathy 88 MDH1* Mdh1   Alliance of Genome Resources
developmental and epileptic encephalopathy 89 GAD1* Gad1   Alliance of Genome Resources
developmental and epileptic encephalopathy 9 PCDH19* Pcdh19   Alliance of Genome Resources
developmental and epileptic encephalopathy 90 FGF13* Fgf13   Alliance of Genome Resources
developmental and epileptic encephalopathy 91 PPP3CA* Ppp3ca   Alliance of Genome Resources
developmental and epileptic encephalopathy 92 GABRB2* Gabrb2   Alliance of Genome Resources
developmental and epileptic encephalopathy 93 ATP6V1A* Atp6v1a   Alliance of Genome Resources
developmental and epileptic encephalopathy 95 PIGS* Pigs   Alliance of Genome Resources
developmental and epileptic encephalopathy 96 NSF* Nsf   Alliance of Genome Resources
developmental and epileptic encephalopathy 97 CELF2* Celf2   Alliance of Genome Resources
developmental and epileptic encephalopathy 98 ATP1A2* Atp1a2   Alliance of Genome Resources
developmental and epileptic encephalopathy 99 ATP1A3* Atp1a3   Alliance of Genome Resources
developmental delay, dysmorphic facies, and brain anomalies U2AF2* U2af2   Alliance of Genome Resources
developmental delay, hypotonia, and impaired language FBXW7* Fbxw7   Alliance of Genome Resources
developmental dysplasia of the hip 1 GDF5* Gdf5   Alliance of Genome Resources
D-glyceric aciduria GLYCTK* Glyctk   Alliance of Genome Resources
Diamond-Blackfan anemia 1 RPS19* Rps19   Alliance of Genome Resources
Diamond-Blackfan anemia 10 RPS26* Rps26   Alliance of Genome Resources
Diamond-Blackfan anemia 11 RPL26* Rpl26   Alliance of Genome Resources
Diamond-Blackfan anemia 12 RPL15* Rpl15   Alliance of Genome Resources
Diamond-Blackfan anemia 13 RPS29* Rps29   Alliance of Genome Resources
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis TSR2* Tsr2   Alliance of Genome Resources
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis RPS28* Rps28   Alliance of Genome Resources
Diamond-Blackfan anemia 16 RPL27* Rpl27   Alliance of Genome Resources
Diamond-Blackfan anemia 17 RPS27* Rps27, Rps27rt   Alliance of Genome Resources
Diamond-Blackfan anemia 18 RPL18* Rpl18   Alliance of Genome Resources
Diamond-Blackfan anemia 19 RPL35* Rpl35, Rpl35rt   Alliance of Genome Resources
Diamond-Blackfan anemia 20 RPS15A* Rps15a   Alliance of Genome Resources
Diamond-blackfan anemia 3 RPS24* Rps24   Alliance of Genome Resources
Diamond-Blackfan anemia 4 RPS17* Rps17   Alliance of Genome Resources
Diamond-Blackfan anemia 5 RPL35A* Rpl35a   Alliance of Genome Resources
Diamond-Blackfan anemia 8 RPS7* Rps7   Alliance of Genome Resources
Diamond-Blackfan anemia 9 RPS10* Rps10   Alliance of Genome Resources
diaphyseal medullary stenosis with malignant fibrous histiocytoma MTAP* Mtap   Alliance of Genome Resources
DICER1 syndrome DICER1* Dicer1   Alliance of Genome Resources
diffuse cystic renal dysplasia BICC1* Bicc1   Alliance of Genome Resources
DiGeorge syndrome DVL1*, DVL1P1* Dvl1   Alliance of Genome Resources
DiGeorge syndrome UFD1* Ufd1 2 models Alliance of Genome Resources
DiGeorge syndrome ARVCF* Arvcf 2 models Alliance of Genome Resources
dihydropyrimidinase deficiency DPYS* Dpys   Alliance of Genome Resources
dilated cardiomyopathy 1AA ACTN2* Actn2   Alliance of Genome Resources
dilated cardiomyopathy 1B FKTN* Fktn   Alliance of Genome Resources
dilated cardiomyopathy 1BB DSG2* Dsg2   Alliance of Genome Resources
dilated cardiomyopathy 1E SCN5A* Scn5a 2 models Alliance of Genome Resources
dilated cardiomyopathy 1FF TNNI3* Tnni3   Alliance of Genome Resources
dilated cardiomyopathy 1GG SDHA* Sdha   Alliance of Genome Resources
dilated cardiomyopathy 1H ADRB3* Adrb3   Alliance of Genome Resources
dilated cardiomyopathy 1H HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
dilated cardiomyopathy 1H SLC25A4* Slc25a4   Alliance of Genome Resources
dilated cardiomyopathy 1H CYP11B2*, CYP11B1 Cyp11b1, Cyp11b2   Alliance of Genome Resources
dilated cardiomyopathy 1H HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
dilated cardiomyopathy 1II CRYAB* Cryab   Alliance of Genome Resources
dilated cardiomyopathy 1J EYA4* Eya4   Alliance of Genome Resources
dilated cardiomyopathy 1JJ LAMA4* Lama4   Alliance of Genome Resources
dilated cardiomyopathy 1KK MYPN* Mypn   Alliance of Genome Resources
dilated cardiomyopathy 1LL PRDM16* Prdm16   Alliance of Genome Resources
dilated cardiomyopathy 1MM MYBPC3* Mybpc3   Alliance of Genome Resources
dilated cardiomyopathy 1NN RAF1* Raf1   Alliance of Genome Resources
dilated cardiomyopathy 1O ABCC9* Abcc9   Alliance of Genome Resources
dilated cardiomyopathy 1P PLN* Pln 1 model Alliance of Genome Resources
dilated cardiomyopathy 1S MYH7* Myh7   Alliance of Genome Resources
dilated cardiomyopathy 1U PSEN1* Psen1   Alliance of Genome Resources
dilated cardiomyopathy 1V PSEN2* Psen2   Alliance of Genome Resources
dilated cardiomyopathy 1W VCL* Vcl   Alliance of Genome Resources
dilated cardiomyopathy 1X FKTN* Fktn   Alliance of Genome Resources
dilated cardiomyopathy 1Z TNNC1* Tnnc1   Alliance of Genome Resources
dilated cardiomyopathy 2A TNNI3* Tnni3   Alliance of Genome Resources
dilated cardiomyopathy 2B GATAD1* Gatad1   Alliance of Genome Resources
dilated cardiomyopathy 2C PPCS* Ppcs   Alliance of Genome Resources
dilated cardiomyopathy 2D RPL3L* Rpl3l   Alliance of Genome Resources
dilated cardiomyopathy 2E JPH2* Jph2   Alliance of Genome Resources
dilated cardiomyopathy 2G LMOD2* Lmod2   Alliance of Genome Resources
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome LMNA* Lmna   Alliance of Genome Resources
dimethylglycine dehydrogenase deficiency DMGDH* Dmgdh   Alliance of Genome Resources
diphthamide deficiency syndrome 2 DPH2* Dph2   Alliance of Genome Resources
distal arthrogryposis type 1A TPM2* Tpm2   Alliance of Genome Resources
distal arthrogryposis type 1B MYBPC1* Mybpc1   Alliance of Genome Resources
distal arthrogryposis type 1C MYL11* Mylpf   Alliance of Genome Resources
distal arthrogryposis type 2A MYH3* Myh3   Alliance of Genome Resources
distal arthrogryposis type 2B1 TNNI2* Tnni2   Alliance of Genome Resources
distal arthrogryposis type 2B2 TNNT3* Tnnt3   Alliance of Genome Resources
distal arthrogryposis type 2B3 MYH3* Myh3   Alliance of Genome Resources
distal arthrogryposis type 3 PIEZO2* Piezo2   Alliance of Genome Resources
distal arthrogryposis type 5 PIEZO2* Piezo2   Alliance of Genome Resources
distal arthrogryposis type 5D ECEL1* Ecel1   Alliance of Genome Resources
distal arthrogryposis type 7 MYH8* Myh8   Alliance of Genome Resources
distal myopathy 1 MYH7* Myh7   Alliance of Genome Resources
distal myopathy 3 HNRNPA1*, HNRNPA1L2 Hnrnpa1, Hnrnpa1l2-ps2   Alliance of Genome Resources
distal myopathy Tateyama type CAV3* Cav3   Alliance of Genome Resources
distal myopathy with anterior tibial onset DYSF* Dysf   Alliance of Genome Resources
distal myopathy with rimmed vacuoles SQSTM1* Sqstm1   Alliance of Genome Resources
dominant optic atrophy plus syndrome OPA1* Opa1   Alliance of Genome Resources
Donohue syndrome INSR* Insr 2 "NOT" models Alliance of Genome Resources
DOORS syndrome TBC1D24* Tbc1d24   Alliance of Genome Resources
dopa-responsive dystonia GCH1* Gch1   Alliance of Genome Resources
Duchenne muscular dystrophy DAG1* Dag1   Alliance of Genome Resources
Duchenne muscular dystrophy ITGA7* Itga7 1 model Alliance of Genome Resources
Dyggve-Melchior-Clausen disease DYM* Dym   Alliance of Genome Resources
dysplastic nevus syndrome CDKN2A* Cdkn2a 1 "NOT" model Alliance of Genome Resources
dystonia 12 PLA2G6* Pla2g6   Alliance of Genome Resources
dystonia 12 ATP1A3* Atp1a3   Alliance of Genome Resources
dystonia 16 PRKRA* Prkra   Alliance of Genome Resources
dystonia 22, adult-onset TSPOAP1* Tspoap1   Alliance of Genome Resources
dystonia 22, juvenile-onset TSPOAP1* Tspoap1   Alliance of Genome Resources
dystonia 24 ANO3* Ano3   Alliance of Genome Resources
dystonia 25 GNAL* Gnal   Alliance of Genome Resources
dystonia 27 COL6A3* Col6a3   Alliance of Genome Resources
dystonia 28, childhood-onset KMT2B* Kmt2b   Alliance of Genome Resources
dystonia 30 VPS16* Vps16   Alliance of Genome Resources
dystonia 31 AOPEP* Aopep   Alliance of Genome Resources
dystonia 32 VPS11* Vps11   Alliance of Genome Resources
dystonia 33 EIF2AK2* Eif2ak2   Alliance of Genome Resources
dystonia 35, childhood-onset SHQ1* Shq1   Alliance of Genome Resources
dystonia 37, early-onset with striatal lesions NUP54* Nup54   Alliance of Genome Resources
dystonia 9 SLC2A1* Slc2a1   Alliance of Genome Resources
dystransthyretinemic hyperthyroxinemia TTR* Ttr   Alliance of Genome Resources
early-onset dystonia and/or spastic paraplegia ATP5MC3* Atp5mc3   Alliance of Genome Resources
early-onset epilepsy 2 SETD1A* Setd1a   Alliance of Genome Resources
early-onset epilepsy 3 ATP6V0C* Atp6v0c   Alliance of Genome Resources
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome MEGF10* Megf10   Alliance of Genome Resources
early onset progressive encephalopathy with brain atrophy and thin corpus callosum TBCD* Tbcd   Alliance of Genome Resources
early-onset vitamin B6-dependent epilepsy 1 PLPBP* Plpbp   Alliance of Genome Resources
early-onset vitamin B6-dependent epilepsy 4 ALDH7A1* Aldh7a1   Alliance of Genome Resources
ectodermal dysplasia 1 EDA* Eda   Alliance of Genome Resources
ectodermal dysplasia 10A EDAR* Edar   Alliance of Genome Resources
ectodermal dysplasia 10B EDAR* Edar   Alliance of Genome Resources
ectodermal dysplasia 11A EDARADD* Edaradd   Alliance of Genome Resources
ectodermal dysplasia 11B EDARADD* Edaradd   Alliance of Genome Resources
ectodermal dysplasia 12 KDF1* Kdf1   Alliance of Genome Resources
ectodermal dysplasia 13 KREMEN1* Kremen1   Alliance of Genome Resources
ectodermal dysplasia 14 TSPEAR* Tspear   Alliance of Genome Resources
ectodermal dysplasia 15 CST6* Cst6   Alliance of Genome Resources
ectodermal dysplasia 4 KRT85* Krt85   Alliance of Genome Resources
ectodermal dysplasia 7 KRT74* Krt74   Alliance of Genome Resources
ectodermal dysplasia 9 HOXC13* Hoxc13   Alliance of Genome Resources
ectodermal dysplasia and immunodeficiency 1 IKBKG* Ikbkg   Alliance of Genome Resources
ectodermal dysplasia and immunodeficiency 2 NFKBIA* Nfkbia   Alliance of Genome Resources
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome CDH3* Cdh3   Alliance of Genome Resources
ectopia lentis with ectopia of pupil ADAMTSL4* Adamtsl4   Alliance of Genome Resources
EEC syndrome TP63* Trp63   Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 1 COL1A1* Col1a1   Alliance of Genome Resources
Ehlers-Danlos syndrome arthrochalasia type 2 COL1A2* Col1a2   Alliance of Genome Resources
Ehlers-Danlos syndrome cardiac valvular type COL1A2* Col1a2   Alliance of Genome Resources
Ehlers-Danlos syndrome classic-like 2 AEBP1* Aebp1   Alliance of Genome Resources
Ehlers-Danlos syndrome classic type 2 COL5A2* Col5a2   Alliance of Genome Resources
Ehlers-Danlos syndrome dermatosparaxis type ADAMTS2* Adamts2   Alliance of Genome Resources
Ehlers-Danlos syndrome kyphoscoliotic type 1 PLOD1* Plod1   Alliance of Genome Resources
Ehlers-Danlos syndrome kyphoscoliotic type 2 FKBP14* Fkbp14   Alliance of Genome Resources
Ehlers-Danlos syndrome musculocontractural type 1 CHST14* Chst14   Alliance of Genome Resources
Ehlers-Danlos syndrome musculocontractural type 2 DSE* Dse   Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 1 C1R* C1ra, C1rb   Alliance of Genome Resources
Ehlers-Danlos syndrome periodontal type 2 C1S* C1s1, C1s2   Alliance of Genome Resources
Ehlers-Danlos syndrome spondylodysplastic type 1 B4GALT7* B4galt7   Alliance of Genome Resources
Ehlers-Danlos syndrome spondylodysplastic type 2 B3GALT6* B3galt6   Alliance of Genome Resources
Eiken syndrome PTH1R* Pth1r   Alliance of Genome Resources
Ellis-Van Creveld syndrome WDR35* Wdr35   Alliance of Genome Resources
enterokinase deficiency TMPRSS15* Tmprss15   Alliance of Genome Resources
epidermodysplasia verruciformis TMC6* Tmc6   Alliance of Genome Resources
epidermodysplasia verruciformis IL7* Il7   Alliance of Genome Resources
epidermodysplasia verruciformis RHOH* Rhoh   Alliance of Genome Resources
epidermodysplasia verruciformis TMC8* Tmc8   Alliance of Genome Resources
epidermodysplasia verruciformis CIB1* Cib1   Alliance of Genome Resources
epidermolysis bullosa simplex with mottled pigmentation KRT5* Krt5   Alliance of Genome Resources
epidermolysis bullosa with congenital localized absence of skin and deformity of nails COL7A1* Col7a1   Alliance of Genome Resources
epidermolytic hyperkeratosis 1 KRT1* Krt1   Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 1 KRT9* Krt9   Alliance of Genome Resources
epidermolytic palmoplantar keratoderma 2 KRT1* Krt1   Alliance of Genome Resources
episodic ataxia type 9 SCN2A* Scn2a   Alliance of Genome Resources
episodic kinesigenic dyskinesia 3 TMEM151A* Tmem151a   Alliance of Genome Resources
epithelial basement membrane dystrophy TGFBI* Tgfbi   Alliance of Genome Resources
epithelial recurrent erosion dystrophy COL17A1* Col17a1   Alliance of Genome Resources
erythrokeratodermia variabilis PERP* Perp   Alliance of Genome Resources
erythrokeratodermia variabilis GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
erythrokeratodermia variabilis GJB4* Gjb4   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 1 GJB3* Gjb3   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 2 GJB4* Gjb4   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 3 GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 4 KDSR* Kdsr   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 5 KRT83*, KRT81, KRT86, KRT87P Krt81, Krt83, Krt86, Krt87   Alliance of Genome Resources
erythrokeratodermia variabilis et progressiva 6 TRPM4* Trpm4   Alliance of Genome Resources
essential fructosuria KHK* Khk   Alliance of Genome Resources
essential tremor 1 DRD3* Drd3   Alliance of Genome Resources
essential tremor 4 FUS* Fus   Alliance of Genome Resources
essential tremor 5 TENM4* Tenm4   Alliance of Genome Resources
essential tremor 6 NOTCH2NLC*  
exudative vitreoretinopathy 1 FZD4* Fzd4   Alliance of Genome Resources
exudative vitreoretinopathy 4 LRP5*, LRP5L Lrp5   Alliance of Genome Resources
exudative vitreoretinopathy 5 TSPAN12* Tspan12   Alliance of Genome Resources
exudative vitreoretinopathy 6 ZNF408* Zfp408   Alliance of Genome Resources
exudative vitreoretinopathy 7 CTNNB1* Ctnnb1   Alliance of Genome Resources
factor V deficiency LMAN1* Lman1   Alliance of Genome Resources
factor V deficiency F5* F5   Alliance of Genome Resources
factor VII deficiency F7* F7   Alliance of Genome Resources
factor VIII deficiency TFPI* Tfpi   Alliance of Genome Resources
factor VIII deficiency IFNG* Ifng   Alliance of Genome Resources
factor VIII deficiency PLAT* Plat   Alliance of Genome Resources
factor VIII deficiency MTHFR* Mthfr   Alliance of Genome Resources
factor VIII deficiency F2* F2   Alliance of Genome Resources
factor VIII deficiency IL10* Il10   Alliance of Genome Resources
factor VIII deficiency FCGR2A*, FCGR2B, FCGR2C Fcgr2b, Fcgr3   Alliance of Genome Resources
factor VIII deficiency HLA-DQA1*, HLA-DQA2 H2-Aa   Alliance of Genome Resources
factor VIII deficiency HMOX1* Hmox1   Alliance of Genome Resources
factor VIII deficiency TGFB1* Tgfb1   Alliance of Genome Resources
factor X deficiency F10* F10   Alliance of Genome Resources
factor XIII deficiency LMAN1* Lman1   Alliance of Genome Resources
familial adenomatous polyposis MUTYH* Mutyh   Alliance of Genome Resources
familial adenomatous polyposis 1 APC* Apc   Alliance of Genome Resources
familial adenomatous polyposis 2 MUTYH* Mutyh   Alliance of Genome Resources
familial adenomatous polyposis 3 NTHL1* Nthl1   Alliance of Genome Resources
familial adenomatous polyposis 4 MSH3* Msh3   Alliance of Genome Resources
familial adult myoclonic epilepsy 1 SAMD12* Samd12   Alliance of Genome Resources
familial adult myoclonic epilepsy 2 STARD7* Stard7   Alliance of Genome Resources
familial adult myoclonic epilepsy 3 MARCHF6* Marchf6   Alliance of Genome Resources
familial adult myoclonic epilepsy 4 YEATS2* Yeats2   Alliance of Genome Resources
familial adult myoclonic epilepsy 5 CNTN2* Cntn2   Alliance of Genome Resources
familial adult myoclonic epilepsy 6 TNRC6A* Tnrc6a   Alliance of Genome Resources
familial adult myoclonic epilepsy 7 RAPGEF2* Rapgef2   Alliance of Genome Resources
familial apolipoprotein A5 deficiency APOA5* Apoa5   Alliance of Genome Resources
familial apolipoprotein C-II deficiency APOC2* Apoc2, Apoc2l   Alliance of Genome Resources
familial Behcet-like autoinflammatory syndrome TNFAIP3* Tnfaip3   Alliance of Genome Resources
familial benign fleck retina PLA2G5* Pla2g5   Alliance of Genome Resources
familial cold autoinflammatory syndrome 2 NLRP12* Nlrp12   Alliance of Genome Resources
familial cold autoinflammatory syndrome 3 PLCG2* Plcg2   Alliance of Genome Resources
familial encephalopathy with neuroserpin inclusion bodies SERPINB7* Serpinb7   Alliance of Genome Resources
familial episodic pain syndrome 1 TRPA1* Trpa1   Alliance of Genome Resources
familial episodic pain syndrome 2 SCN10A* Scn10a   Alliance of Genome Resources
familial erythrocytosis 1 EPOR* Epor 2 models Alliance of Genome Resources
familial erythrocytosis 1 SH2B3* Sh2b3   Alliance of Genome Resources
familial erythrocytosis 1 JAK2* Jak2   Alliance of Genome Resources
familial erythrocytosis 3 EGLN1* Egln1   Alliance of Genome Resources
familial erythrocytosis 5 EPO* Epo   Alliance of Genome Resources
familial expansile osteolysis TNFRSF11A* Tnfrsf11a   Alliance of Genome Resources
familial focal epilepsy with variable foci 1 DEPDC5* Depdc5   Alliance of Genome Resources
familial focal epilepsy with variable foci 2 NPRL2* Nprl2   Alliance of Genome Resources
familial focal epilepsy with variable foci 3 NPRL3* Nprl3   Alliance of Genome Resources
familial focal epilepsy with variable foci 4 SCN3A* Scn3a   Alliance of Genome Resources
familial gestational hyperthyroidism TSHR* Tshr   Alliance of Genome Resources
familial GPIHBP1 deficiency GPIHBP1* Gpihbp1   Alliance of Genome Resources
familial hemophagocytic lymphohistiocytosis 5 STXBP2* Stxbp2   Alliance of Genome Resources
familial hepatic adenoma HNF1A* Hnf1a   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 1 ABCC8* Abcc8   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 2 KCNJ11* Kcnj11   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 4 HADH* Hadh   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 5 INSR* Insr   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 6 GLUD1*, GLUD2 Glud1   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 7 SLC16A1* Slc16a1   Alliance of Genome Resources
familial hyperinsulinemic hypoglycemia 8 SLC25A36* Slc25a36   Alliance of Genome Resources
familial hypertryptophanemia TDO2* Tdo2   Alliance of Genome Resources
familial hypocalciuric hypercalcemia 2 GNA11* Gna11   Alliance of Genome Resources
familial hypocalciuric hypercalcemia 3 AP2S1* Ap2s1   Alliance of Genome Resources
familial isolated trichomegaly FGF5* Fgf5   Alliance of Genome Resources
familial lipase maturation factor 1 deficiency LMF1* Lmf1   Alliance of Genome Resources
familial male-limited precocious puberty LHCGR* Lhcgr   Alliance of Genome Resources
familial Mediterranean fever CYP3A4*, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, CYP3A43 Cyp3a11, Cyp3a13, Cyp3a16, Cyp3a25, Cyp3a41a, Cyp3a41b, Cyp3a44, Cyp3a57, Cyp3a59   Alliance of Genome Resources
familial Mediterranean fever TLR4* Tlr4   Alliance of Genome Resources
familial Mediterranean fever SERPINE1* Serpine1   Alliance of Genome Resources
familial Mediterranean fever POMC* Pomc   Alliance of Genome Resources
familial Mediterranean fever NOD2* Nod2   Alliance of Genome Resources
familial Mediterranean fever MTHFR* Mthfr   Alliance of Genome Resources
familial Mediterranean fever ACE* Ace   Alliance of Genome Resources
familial Mediterranean fever ABCB1* Abcb1a, Abcb1b   Alliance of Genome Resources
familial medullary thyroid carcinoma RET* Ret 2 "NOT" models Alliance of Genome Resources
familial nephrotic syndrome DAAM2* Daam2   Alliance of Genome Resources
familial nephrotic syndrome LAMA5* Lama5   Alliance of Genome Resources
familial partial lipodystrophy type 2 LMNA* Lmna   Alliance of Genome Resources
familial partial lipodystrophy type 3 PPARG* Pparg   Alliance of Genome Resources
familial partial lipodystrophy type 4 PLIN1* Plin1   Alliance of Genome Resources
familial partial lipodystrophy type 5 CIDEC* Cidec   Alliance of Genome Resources
familial partial lipodystrophy type 6 LIPE* Lipe   Alliance of Genome Resources
familial progressive hyperpigmentation with or without hypopigmentation KITLG* Kitl   Alliance of Genome Resources
familial temporal lobe epilepsy 5 CPA6* Cpa6   Alliance of Genome Resources
familial temporal lobe epilepsy 7 RELN* Reln   Alliance of Genome Resources
familial temporal lobe epilepsy 8 GAL* Gal   Alliance of Genome Resources
familial visceral amyloidosis FGA* Fga   Alliance of Genome Resources
Fanconi anemia complementation group B FANCB* Fancb   Alliance of Genome Resources
Fanconi anemia complementation group E FANCE* Fance   Alliance of Genome Resources
Fanconi anemia complementation group F FANCF* Fancf   Alliance of Genome Resources
Fanconi anemia complementation group G FANCG* Fancg   Alliance of Genome Resources
Fanconi anemia complementation group I FANCI* Fanci   Alliance of Genome Resources
Fanconi anemia complementation group J BRIP1* Brip1   Alliance of Genome Resources
Fanconi anemia complementation group L FANCL* Fancl   Alliance of Genome Resources
Fanconi anemia complementation group N PALB2* Palb2   Alliance of Genome Resources
Fanconi anemia complementation group O RAD51C* Rad51c   Alliance of Genome Resources
Fanconi anemia complementation group P SLX4* Slx4 1 "NOT" model Alliance of Genome Resources
Fanconi anemia complementation group Q ERCC4* Ercc4   Alliance of Genome Resources
Fanconi anemia complementation group R RAD51* Rad51   Alliance of Genome Resources
Fanconi anemia complementation group S BRCA1* Brca1   Alliance of Genome Resources
Fanconi anemia complementation group T UBE2T* Ube2t   Alliance of Genome Resources
Fanconi anemia complementation group U XRCC2* Xrcc2   Alliance of Genome Resources
Fanconi anemia complementation group V MAD2L2* Mad2l2   Alliance of Genome Resources
Fanconi anemia complementation group W RFWD3* Rfwd3   Alliance of Genome Resources
Fanconi-Bickel syndrome SLC2A2* Slc2a2   Alliance of Genome Resources
Fanconi renotubular syndrome 1 GATM* Gatm   Alliance of Genome Resources
Fanconi renotubular syndrome 2 SLC34A1* Slc34a1   Alliance of Genome Resources
Fanconi renotubular syndrome 3 EHHADH* Ehhadh   Alliance of Genome Resources
Fanconi renotubular syndrome 4 HNF4A* Hnf4a   Alliance of Genome Resources
Fanconi renotubular syndrome 5 NDUFAF6* Ndufaf6   Alliance of Genome Resources
fatal infantile hypertonic myofibrillar myopathy CRYAB* Cryab   Alliance of Genome Resources
Fazio-Londe disease SLC52A3* Slc52a3   Alliance of Genome Resources
Feingold syndrome MYCN* Mycn, Mycs   Alliance of Genome Resources
female-restricted syndromic X-linked intellectual disability 99 USP9X* Usp9x   Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 1 MUSK* Musk   Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 2 RAPSN* Rapsn   Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 3 DOK7* Dok7   Alliance of Genome Resources
fetal akinesia deformation sequence syndrome 4 NUP88* Nup88   Alliance of Genome Resources
FG syndrome MED12* Med12   Alliance of Genome Resources
FG syndrome CASK* Cask   Alliance of Genome Resources
fibrochondrogenesis 1 COL11A1* Col11a1   Alliance of Genome Resources
fibrochondrogenesis 2 COL11A2* Col11a2   Alliance of Genome Resources
Filippi syndrome CKAP2L* Ckap2l   Alliance of Genome Resources
Finnish type amyloidosis GSN* Gsn   Alliance of Genome Resources
Floating-Harbor syndrome SRCAP* Srcap   Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 1 KRT16* Krt16   Alliance of Genome Resources
focal nonepidermolytic palmoplantar keratoderma 2 TRPV3* Trpv3   Alliance of Genome Resources
focal or diffuse nonepidermolytic palmoplantar keratoderma KRT6C*, KRT6A, KRT6B Gm5414, Gm5478, Krt6a, Krt6b   Alliance of Genome Resources
focal segmental glomerulosclerosis 5 INF2* Inf2   Alliance of Genome Resources
focal segmental glomerulosclerosis 6 MYO1E* Myo1e   Alliance of Genome Resources
focal segmental glomerulosclerosis 7 PAX2* Pax2   Alliance of Genome Resources
focal segmental glomerulosclerosis 8 ANLN* Anln   Alliance of Genome Resources
focal segmental glomerulosclerosis 9 CRB2* Crb2   Alliance of Genome Resources
foveal hypoplasia 1 PAX6* Pax6   Alliance of Genome Resources
Frank-Ter Haar syndrome SH3PXD2B* Sh3pxd2b   Alliance of Genome Resources
Fraser syndrome 1 FRAS1* Fras1   Alliance of Genome Resources
Fraser syndrome 2 FREM2* Frem2   Alliance of Genome Resources
Fraser syndrome 3 GRIP1* Grip1   Alliance of Genome Resources
Frasier syndrome WT1* Wt1   Alliance of Genome Resources
Friedreich ataxia AGTR1* Agtr1a, Agtr1b   Alliance of Genome Resources
Friedreich ataxia ND1* mt-Nd1   Alliance of Genome Resources
Friedreich ataxia 1 FXN* Fxn   Alliance of Genome Resources
frontometaphyseal dysplasia 1 FLNA* Flna   Alliance of Genome Resources
frontometaphyseal dysplasia 2 MAP3K7* Map3k7   Alliance of Genome Resources
frontonasal dysplasia 1 ALX3* Alx3   Alliance of Genome Resources
frontonasal dysplasia 2 ALX4* Alx4   Alliance of Genome Resources
fumarase deficiency FH* Fh1   Alliance of Genome Resources
galactose epimerase deficiency GALE* Gale   Alliance of Genome Resources
Galloway-Mowat syndrome 1 WDR73* Wdr73   Alliance of Genome Resources
Galloway-Mowat syndrome 2 LAGE3* Lage3   Alliance of Genome Resources
Galloway-Mowat syndrome 3 OSGEP* Osgep   Alliance of Genome Resources
Galloway-Mowat syndrome 4 TP53RK* Trp53rka, Trp53rkb   Alliance of Genome Resources
gamma-glutamyl transpeptidase deficiency GGT1*, GGT2P, GGT3P, GGTLC1, GGTLC2, GGTLC3 Ggt1   Alliance of Genome Resources
GAPO syndrome ANTXR1* Antxr1   Alliance of Genome Resources
Gaucher's disease type III GBA1* Gba1   Alliance of Genome Resources
Gaucher's disease type IIIC GBA1* Gba1   Alliance of Genome Resources
gelatinous drop-like corneal dystrophy TACSTD2* Tacstd2   Alliance of Genome Resources
geleophysic dysplasia 2 FBN1* Fbn1   Alliance of Genome Resources
geleophysic dysplasia 3 LTBP3* Ltbp3   Alliance of Genome Resources
geroderma osteodysplasticum GORAB* Gorab   Alliance of Genome Resources
Ghosal hematodiaphyseal syndrome TBXAS1* Tbxas1   Alliance of Genome Resources
giant axonal neuropathy 2 DCAF8* Dcaf8   Alliance of Genome Resources
Gillespie syndrome ITPR1* Itpr1   Alliance of Genome Resources
gingival fibromatosis 5 REST* Rest   Alliance of Genome Resources
Gitelman syndrome CLCNKB*, CLCNKA Clcnka, Clcnkb   Alliance of Genome Resources
glomangioma GLMN* Glmn   Alliance of Genome Resources
glucocorticoid deficiency 1 MC2R* Mc2r   Alliance of Genome Resources
glucose-galactose malabsorption SLC5A1* Slc5a1   Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome SLC2A1* Slc2a1   Alliance of Genome Resources
glucose transporter type 1 deficiency syndrome 2 SLC2A1* Slc2a1   Alliance of Genome Resources
glutamate-cysteine ligase deficiency GCLC* Gclc   Alliance of Genome Resources
glutamate formiminotransferase deficiency FTCD* Ftcd   Alliance of Genome Resources
glutathione synthetase deficiency of erythrocytes GSS* Gss   Alliance of Genome Resources
glutatione synthetase deficiency with 5-oxoprolinuria GSS* Gss   Alliance of Genome Resources
glycine encephalopathy AMT* Amt   Alliance of Genome Resources
glycogen storage disease Ib SLC37A4* Slc37a4   Alliance of Genome Resources
glycogen storage disease Ic SLC37A4* Slc37a4   Alliance of Genome Resources
glycogen storage disease IXa PHKA2* Phka2   Alliance of Genome Resources
glycogen storage disease IXc PHKG2* Phkg2   Alliance of Genome Resources
glycosylphosphatidylinositol biosynthesis defect 16 PIGC* Pigc   Alliance of Genome Resources
GM1 gangliosidosis type 1 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 2 GLB1* Glb1   Alliance of Genome Resources
GM1 gangliosidosis type 3 GLB1* Glb1   Alliance of Genome Resources
GM2 gangliosidosis GM2A* Gm2a   Alliance of Genome Resources
GNE myopathy GNE* Gne   Alliance of Genome Resources
Gordon Holmes syndrome RNF216* Rnf216   Alliance of Genome Resources
granular corneal dystrophy 1 TGFBI* Tgfbi   Alliance of Genome Resources
granular corneal dystrophy 2 TGFBI* Tgfbi   Alliance of Genome Resources
gray platelet syndrome GFI1B* Gfi1b   Alliance of Genome Resources
Greenberg dysplasia LBR* Lbr   Alliance of Genome Resources
Griscelli syndrome type 2 RAB27A* Rab27a 1 model Alliance of Genome Resources
Griscelli syndrome type 3 MLPH* Mlph   Alliance of Genome Resources
growth hormone insensitivity syndrome with immune dysregulation 1 STAT5B* Stat5b   Alliance of Genome Resources
growth hormone insensitivity syndrome with immune dysregulation 2 STAT5B* Stat5b   Alliance of Genome Resources
Guttmacher syndrome HOXA13* Hoxa13   Alliance of Genome Resources
Hailey-Hailey disease ATP2C1* Atp2c1 1 "NOT" model Alliance of Genome Resources
Halperin-Birk syndrome SEC31A* Sec31a   Alliance of Genome Resources
Harel-Yoon syndrome ATAD3A*, ATAD3B, ATAD3C Atad3a   Alliance of Genome Resources
hawkinsinuria HPD* Hpd   Alliance of Genome Resources
Heimler syndrome 1 PEX1* Pex1   Alliance of Genome Resources
Heimler syndrome 2 PEX6* Pex6   Alliance of Genome Resources
Heinz body anemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt   Alliance of Genome Resources
Heinz body anemia HBA1*, HBA2* Hba-a1, Hba-a2   Alliance of Genome Resources
Helsmoortel-Van Der Aa Syndrome ADNP* Adnp   Alliance of Genome Resources
hemoglobin H disease HBA1*, HBA2* Hba-a1, Hba-a2   Alliance of Genome Resources
hemophilia B F2* F2   Alliance of Genome Resources
Hengel-Maroofian-Schols syndrome BCAS3* Bcas3   Alliance of Genome Resources
heparin cofactor II deficiency SERPIND1* Serpind1   Alliance of Genome Resources
hepatic venoocclusive disease with immunodeficiency SP110* Sp110, Sp110-ps1, Sp110-ps2   Alliance of Genome Resources
hereditary angioedema KNG1* Kng1, Kng2   Alliance of Genome Resources
hereditary angioedema ANGPT1* Angpt1   Alliance of Genome Resources
hereditary angioedema F12* F12   Alliance of Genome Resources
hereditary angioedema HS3ST6* Hs3st6   Alliance of Genome Resources
hereditary angioedema MYOF* Myof   Alliance of Genome Resources
hereditary angioedema PLG* Plg   Alliance of Genome Resources
hereditary angioedema SERPING1* Serping1   Alliance of Genome Resources
hereditary angioedema type I SERPING1* Serping1   Alliance of Genome Resources
hereditary angioedema type III F12* F12   Alliance of Genome Resources
hereditary arterial and articular multiple calcification syndrome NT5E* Nt5e   Alliance of Genome Resources
hereditary breast ovarian cancer syndrome BRCA2* Brca2   Alliance of Genome Resources
hereditary breast ovarian cancer syndrome RAD51D* Rad51d   Alliance of Genome Resources
hereditary breast ovarian cancer syndrome BRCA1* Brca1 3 models Alliance of Genome Resources
hereditary breast ovarian cancer syndrome RAD51C* Rad51c   Alliance of Genome Resources
hereditary breast ovarian cancer syndrome PALB2* Palb2   Alliance of Genome Resources
hereditary desmoid disease APC* Apc   Alliance of Genome Resources
hereditary diffuse gastric cancer CDH1* Cdh1   Alliance of Genome Resources
hereditary folate malabsorption SLC46A1* Slc46a1   Alliance of Genome Resources
hereditary hemorrhagic telangiectasia SMAD4* Smad4   Alliance of Genome Resources
hereditary hemorrhagic telangiectasia GDF2* Gdf2   Alliance of Genome Resources
hereditary lymphedema IA FLT4* Flt4   Alliance of Genome Resources
hereditary lymphedema IC GJC2* Gjc2   Alliance of Genome Resources
hereditary lymphedema ID VEGFC* Vegfc   Alliance of Genome Resources
hereditary mixed polyposis syndrome 2 BMPR1A* Bmpr1a   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 2 MLH1* Mlh1   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 4 PMS2*, PMS2P1, PMS2P2, PMS2P6 Pms2   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 5 MSH6* Msh6   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 6 TGFBR2* Tgfbr2   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 7 MLH3* Mlh3   Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 8 EPCAM* Epcam   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1A SPTLC1* Sptlc1   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 1C SPTLC2* Sptlc2   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 2A WNK1* Wnk1   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 2B RETREG1* Retreg1   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 5 NGF* Ngf 2 models Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 7 SCN11A* Scn11a   Alliance of Genome Resources
hereditary sensory and autonomic neuropathy type 8 PRDM12* Prdm12   Alliance of Genome Resources
hereditary sensory neuropathy type 1D ATL1* Atl1   Alliance of Genome Resources
hereditary sensory neuropathy type 1E DNMT1* Dnmt1   Alliance of Genome Resources
hereditary sensory neuropathy type 1F ATL3* Atl3   Alliance of Genome Resources
hereditary sensory neuropathy type 2C KIF1A* Kif1a   Alliance of Genome Resources
hereditary sensory neuropathy type 4 NTRK1* Ntrk1   Alliance of Genome Resources
hereditary spastic paraplegia 10 KIF5A* Kif5a   Alliance of Genome Resources
hereditary spastic paraplegia 12 RTN2* Rtn2   Alliance of Genome Resources
hereditary spastic paraplegia 17 BSCL2* Bscl2   Alliance of Genome Resources
hereditary spastic paraplegia 18 ERLIN2* Erlin2   Alliance of Genome Resources
hereditary spastic paraplegia 23 DSTYK* Dstyk   Alliance of Genome Resources
hereditary spastic paraplegia 26 B4GALNT1* B4galnt1   Alliance of Genome Resources
hereditary spastic paraplegia 28 DDHD1* Ddhd1   Alliance of Genome Resources
hereditary spastic paraplegia 39 PNPLA6* Pnpla6   Alliance of Genome Resources
hereditary spastic paraplegia 3A ATL1* Atl1   Alliance of Genome Resources
hereditary spastic paraplegia 42 SLC33A1* Slc33a1   Alliance of Genome Resources
hereditary spastic paraplegia 43 C19orf12* 1600014C10Rik   Alliance of Genome Resources
hereditary spastic paraplegia 44 GJC2* Gjc2   Alliance of Genome Resources
hereditary spastic paraplegia 45 NT5C2* Nt5c2   Alliance of Genome Resources
hereditary spastic paraplegia 46 GBA2* Gba2   Alliance of Genome Resources
hereditary spastic paraplegia 47 AP4B1* Ap4b1   Alliance of Genome Resources
hereditary spastic paraplegia 49 TECPR2* Tecpr2   Alliance of Genome Resources
hereditary spastic paraplegia 50 AP4M1* Ap4m1   Alliance of Genome Resources
hereditary spastic paraplegia 51 AP4E1* Ap4e1   Alliance of Genome Resources
hereditary spastic paraplegia 52 AP4S1* Ap4s1   Alliance of Genome Resources
hereditary spastic paraplegia 53 VPS37A* Vps37a   Alliance of Genome Resources
hereditary spastic paraplegia 55 MTRFR* Mtrfr   Alliance of Genome Resources
hereditary spastic paraplegia 56 CYP2U1* Cyp2u1   Alliance of Genome Resources
hereditary spastic paraplegia 57 TFG* Tfg   Alliance of Genome Resources
hereditary spastic paraplegia 5A CYP7B1* Cyp7b1   Alliance of Genome Resources
hereditary spastic paraplegia 6 NIPA1* Nipa1   Alliance of Genome Resources
hereditary spastic paraplegia 61 ARL6IP1* Arl6ip1   Alliance of Genome Resources
hereditary spastic paraplegia 62 ERLIN1* Erlin1   Alliance of Genome Resources
hereditary spastic paraplegia 63 AMPD2* Ampd2   Alliance of Genome Resources
hereditary spastic paraplegia 64 ENTPD1* Entpd1   Alliance of Genome Resources
hereditary spastic paraplegia 70 MARS1* Mars1   Alliance of Genome Resources
hereditary spastic paraplegia 72A REEP2* Reep2   Alliance of Genome Resources
hereditary spastic paraplegia 73 CPT1C* Cpt1c   Alliance of Genome Resources
hereditary spastic paraplegia 74 IBA57* Iba57   Alliance of Genome Resources
hereditary spastic paraplegia 75 MAG* Mag   Alliance of Genome Resources
hereditary spastic paraplegia 76 CAPN1* Capn1   Alliance of Genome Resources
hereditary spastic paraplegia 77 FARS2* Fars2   Alliance of Genome Resources
hereditary spastic paraplegia 78 ATP13A2* Atp13a2   Alliance of Genome Resources
hereditary spastic paraplegia 79A UCHL1* Uchl1   Alliance of Genome Resources
hereditary spastic paraplegia 79B UCHL1* Uchl1   Alliance of Genome Resources
hereditary spastic paraplegia 8 WASHC5* Washc5 1 "NOT" model Alliance of Genome Resources
hereditary spastic paraplegia 81 SELENOI* Selenoi   Alliance of Genome Resources
hereditary spastic paraplegia 82 PCYT2* Pcyt2   Alliance of Genome Resources
hereditary spastic paraplegia 83 HPDL* Hpdl   Alliance of Genome Resources
hereditary spastic paraplegia 84 PI4KA* Pi4ka   Alliance of Genome Resources
hereditary spastic paraplegia 85 RNF170* Rnf170   Alliance of Genome Resources
hereditary spastic paraplegia 86 ABHD16A* Abhd16a   Alliance of Genome Resources
hereditary spastic paraplegia 87 TMEM63C* Tmem63c   Alliance of Genome Resources
hereditary spastic paraplegia 88 KPNA3* Kpna3   Alliance of Genome Resources
hereditary spastic paraplegia 89 AMFR* Amfr   Alliance of Genome Resources
hereditary spastic paraplegia 90A SPTSSA* Sptssa   Alliance of Genome Resources
hereditary spastic paraplegia 90B SPTSSA* Sptssa   Alliance of Genome Resources
hereditary spastic paraplegia 9A ALDH18A1* Aldh18a1   Alliance of Genome Resources
hereditary spastic paraplegia 9B ALDH18A1* Aldh18a1   Alliance of Genome Resources
hereditary spherocytosis type 2 SPTB* Sptb   Alliance of Genome Resources
hereditary spherocytosis type 5 EPB42* Epb42   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS6* Hps6   Alliance of Genome Resources
Hermansky-Pudlak syndrome AP3B1* Ap3b1   Alliance of Genome Resources
Hermansky-Pudlak syndrome AP3D1* Ap3d1   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS3* Hps3   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS5* Hps5   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS4* Hps4   Alliance of Genome Resources
high molecular weight kininogen deficiency KNG1* Kng1, Kng2   Alliance of Genome Resources
histiocytosis-lymphadenopathy plus syndrome SLC29A3* Slc29a3   Alliance of Genome Resources
holoprosencephaly 12 CNOT1* Cnot1   Alliance of Genome Resources
Holoprosencephaly 13, X-linked STAG2* Stag2   Alliance of Genome Resources
holoprosencephaly 4 TGIF1* Tgif1 1 "NOT" model Alliance of Genome Resources
holoprosencephaly 7 PTCH1* Ptch1   Alliance of Genome Resources
holoprosencephaly 9 GLI2* Gli2   Alliance of Genome Resources
Holt-Oram syndrome SALL4* Sall4   Alliance of Genome Resources
homocystinuria-megaloblastic anemia cblE type MTRR* Mtrr   Alliance of Genome Resources
HRPT-related hyperuricemia HPRT1* Hprt1   Alliance of Genome Resources
hyaline fibromatosis syndrome ANTXR2* Antxr2   Alliance of Genome Resources
hydrolethalus syndrome 1 HYLS1* Hyls1   Alliance of Genome Resources
hydrolethalus syndrome 2 KIF7* Kif7   Alliance of Genome Resources
hydrophthalmos CYP1B1* Cyp1b1   Alliance of Genome Resources
hydroxykynureninuria KYNU* Kynu   Alliance of Genome Resources
hyperalphalipoproteinemia 1 CETP*  
hyperekplexia 4 ATAD1* Atad1   Alliance of Genome Resources
hyperferritinemia-cataract syndrome FTL* Ftl1, Ftl1-ps2, Ftl2-ps   Alliance of Genome Resources
hyper IgE recurrent infection syndrome 2 DOCK8* Dock8   Alliance of Genome Resources
hyper IgE recurrent infection syndrome 3 ZNF341* Zfp341   Alliance of Genome Resources
hyper IgE recurrent infection syndrome 4 IL6ST* Il6st   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 1 PIGV* Pigv   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 2 PIGO* Pigo   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 3 PGAP2* Pgap2   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 4 PGAP3* Pgap3   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 5 PIGW* Pigw   Alliance of Genome Resources
hyperphosphatasia with impaired intellectual development syndrome 6 PIGY* Pigyl   Alliance of Genome Resources
hyperprolinemia type 1 PRODH* Prodh   Alliance of Genome Resources
hyperprolinemia type 2 ALDH4A1* Aldh4a1   Alliance of Genome Resources
hypertension and brachydactyly syndrome PDE3A* Pde3a   Alliance of Genome Resources
hypervalinemia and hyperleucine-isoleucinemia BCAT2* Bcat2   Alliance of Genome Resources
hypogonadotropic hypogonadism 10 with or without anosmia TAC3* Tac2   Alliance of Genome Resources
hypogonadotropic hypogonadism 14 with or without anosmia WDR11* Wdr11   Alliance of Genome Resources
hypogonadotropic hypogonadism 15 with or without anosmia HS6ST1* Hs6st1   Alliance of Genome Resources
hypogonadotropic hypogonadism 16 with or without anosmia SEMA3A* Sema3a   Alliance of Genome Resources
hypogonadotropic hypogonadism 17 with or without anosmia SPRY4* Spry4   Alliance of Genome Resources
hypogonadotropic hypogonadism 18 with or without anosmia IL17RD* Il17rd   Alliance of Genome Resources
hypogonadotropic hypogonadism 19 with or without anosmia DUSP6* Dusp6   Alliance of Genome Resources
hypogonadotropic hypogonadism 1 with or without anosmia ANOS1*  
hypogonadotropic hypogonadism 20 with or without anosmia FGF17* Fgf17   Alliance of Genome Resources
hypogonadotropic hypogonadism 21 with or without anosmia FLRT3* Flrt3   Alliance of Genome Resources
hypogonadotropic hypogonadism 22 with or without anosmia FEZF1* Fezf1   Alliance of Genome Resources
hypogonadotropic hypogonadism 23 with or without anosmia LHB*, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8 Lhb   Alliance of Genome Resources
hypogonadotropic hypogonadism 24 without anosmia FSHB* Fshb   Alliance of Genome Resources
hypogonadotropic hypogonadism 2 with or without anosmia FGFR1* Fgfr1   Alliance of Genome Resources
hypogonadotropic hypogonadism 3 with or without anosmia PROKR2* Prokr2   Alliance of Genome Resources
hypogonadotropic hypogonadism 4 with or without anosmia PROK2* Prok2   Alliance of Genome Resources
hypogonadotropic hypogonadism 5 with or without anosmia CHD7* Chd7   Alliance of Genome Resources
hypogonadotropic hypogonadism 6 with or without anosmia FGF8* Fgf8   Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia FGFR1* Fgfr1   Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia NSMF* Nsmf   Alliance of Genome Resources
hypogonadotropic hypogonadism 9 with or without anosmia NSMF* Nsmf   Alliance of Genome Resources
hypoinsulinemic hypoglycemia with hemihypertrophy AKT2* Akt2   Alliance of Genome Resources
hypomyelinating leukodystrophy 10 PYCR2* Pycr2   Alliance of Genome Resources
hypomyelinating leukodystrophy 11 POLR1C* Polr1c   Alliance of Genome Resources
hypomyelinating leukodystrophy 12 VPS11* Vps11   Alliance of Genome Resources
hypomyelinating leukodystrophy 13 HIKESHI* Hikeshi   Alliance of Genome Resources
hypomyelinating leukodystrophy 14 UFM1* Ufm1   Alliance of Genome Resources
hypomyelinating leukodystrophy 15 EPRS1* Eprs1   Alliance of Genome Resources
hypomyelinating leukodystrophy 16 TMEM106B* Tmem106b   Alliance of Genome Resources
hypomyelinating leukodystrophy 17 AIMP2* Aimp2   Alliance of Genome Resources
hypomyelinating leukodystrophy 18 DEGS1* Degs1, Degs1l   Alliance of Genome Resources
hypomyelinating leukodystrophy 19 TMEM63A* Tmem63a   Alliance of Genome Resources
hypomyelinating leukodystrophy 20 CNP* Cnp   Alliance of Genome Resources
hypomyelinating leukodystrophy 21 POLR3K* Polr3k   Alliance of Genome Resources
hypomyelinating leukodystrophy 22 CLDN11* Cldn11   Alliance of Genome Resources
hypomyelinating leukodystrophy 23 RNF220* Rnf220   Alliance of Genome Resources
hypomyelinating leukodystrophy 24 ATP11A* Atp11a   Alliance of Genome Resources
hypomyelinating leukodystrophy 25 TMEM163* Tmem163   Alliance of Genome Resources
hypomyelinating leukodystrophy 26 SLC35B2* Slc35b2   Alliance of Genome Resources
hypomyelinating leukodystrophy 3 AIMP1* Aimp1   Alliance of Genome Resources
hypomyelinating leukodystrophy 4 HSPD1* Hspd1   Alliance of Genome Resources
hypomyelinating leukodystrophy 5 HYCC1* Hycc1   Alliance of Genome Resources
hypomyelinating leukodystrophy 7 POLR3A* Polr3a 2 "NOT" models Alliance of Genome Resources
hypomyelinating leukodystrophy 8 POLR3B* Polr3b   Alliance of Genome Resources
hypomyelinating leukodystrophy 9 RARS1* Rars1   Alliance of Genome Resources
hypoparathyroidism-retardation-dysmorphism syndrome TBCE* Tbce   Alliance of Genome Resources
hypophosphatasia ALPL* Alpl   Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 1 SLC34A1* Slc34a1   Alliance of Genome Resources
hypophosphatemic nephrolithiasis/osteoporosis 2 NHERF1* Nherf1   Alliance of Genome Resources
hypoplastic or aplastic tibia with polydactyly SHH* Shh   Alliance of Genome Resources
hypotonia, ataxia, and delayed development syndrome EBF3* Ebf3   Alliance of Genome Resources
hypotrichosis 1 APCDD1* Apcdd1   Alliance of Genome Resources
hypotrichosis 1 SNRPE* Snrpe, Snrpert   Alliance of Genome Resources
hypotrichosis 11 SNRPE* Snrpe, Snrpert   Alliance of Genome Resources
hypotrichosis 12 RPL21* Rpl21   Alliance of Genome Resources
hypotrichosis 15 C3orf52* BC016579   Alliance of Genome Resources
hypotrichosis 2 CDSN* Cdsn   Alliance of Genome Resources
hypotrichosis 3 KRT74* Krt74   Alliance of Genome Resources
hypotrichosis 4 HRURF*  
hypotrichosis 5 EPS8L3* Eps8l3   Alliance of Genome Resources
hypotrichosis 7 LIPH* Liph   Alliance of Genome Resources
hypotrichosis 8 LPAR6* Lpar6   Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome SOX18* Sox18   Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia syndrome SOX18* Sox18   Alliance of Genome Resources
ichthyosis follicularis-alopecia-photophobia syndrome 1 MBTPS2* Mbtps2   Alliance of Genome Resources
ichthyosis vulgaris FLG*  
idiopathic pulmonary fibrosis CXCL5*, CXCL6 Cxcl5   Alliance of Genome Resources
idiopathic pulmonary fibrosis BRD4* Brd4   Alliance of Genome Resources
idiopathic pulmonary fibrosis SETD2* Setd2   Alliance of Genome Resources
idiopathic pulmonary fibrosis SFTPA2*, SFTPA1 Sftpa1   Alliance of Genome Resources
idiopathic pulmonary fibrosis PTGS2* Ptgs2   Alliance of Genome Resources
idiopathic pulmonary fibrosis MUC5B* Muc5b   Alliance of Genome Resources
idiopathic pulmonary fibrosis HLA-DRB1*, HLA-DRB3, HLA-DRB4, HLA-DRB5 H2-Eb1, H2-Eb2   Alliance of Genome Resources
idiopathic pulmonary fibrosis EHMT2* Ehmt2   Alliance of Genome Resources
idiopathic pulmonary fibrosis TERT* Tert   Alliance of Genome Resources
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome DOCK8* Dock8   Alliance of Genome Resources
immunodeficiency 10 STIM1* Stim1   Alliance of Genome Resources
immunodeficiency 11A CARD11* Card11   Alliance of Genome Resources
immunodeficiency 11B CARD11* Card11   Alliance of Genome Resources
immunodeficiency 12 MALT1* Malt1   Alliance of Genome Resources
immunodeficiency 13 UNC119* Unc119   Alliance of Genome Resources
immunodeficiency 14 PIK3CD* Pik3cd   Alliance of Genome Resources
immunodeficiency 15B IKBKB* Ikbkb   Alliance of Genome Resources
immunodeficiency 16 TNFRSF4* Tnfrsf4   Alliance of Genome Resources
immunodeficiency 17 CD3G* Cd3g   Alliance of Genome Resources
immunodeficiency 18 CD3E* Cd3e   Alliance of Genome Resources
immunodeficiency 19 CD3D* Cd3d   Alliance of Genome Resources
immunodeficiency 20 FCGR3A*, FCGR3B Fcgr4   Alliance of Genome Resources
immunodeficiency 21 GATA2* Gata2   Alliance of Genome Resources
immunodeficiency 22 LCK* Lck   Alliance of Genome Resources
immunodeficiency 23 PGM3* Pgm3   Alliance of Genome Resources
immunodeficiency 24 CTPS1* Ctps1 1 "NOT" model Alliance of Genome Resources
immunodeficiency 25 CD247* Cd247   Alliance of Genome Resources
immunodeficiency 26 PRKDC* Prkdc   Alliance of Genome Resources
immunodeficiency 27A IFNGR1* Ifngr1   Alliance of Genome Resources
immunodeficiency 27B IFNGR1* Ifngr1   Alliance of Genome Resources
immunodeficiency 28 IFNGR2* Ifngr2   Alliance of Genome Resources
immunodeficiency 29 IL12B* Il12b   Alliance of Genome Resources
immunodeficiency 30 IL12RB1* Il12rb1   Alliance of Genome Resources
immunodeficiency 31A STAT1* Stat1   Alliance of Genome Resources
immunodeficiency 31B STAT1* Stat1   Alliance of Genome Resources
immunodeficiency 31C STAT1* Stat1   Alliance of Genome Resources
immunodeficiency 32A IRF8* Irf8   Alliance of Genome Resources
immunodeficiency 32B IRF8* Irf8   Alliance of Genome Resources
immunodeficiency 33 IKBKG* Ikbkg   Alliance of Genome Resources
immunodeficiency 34 CYBB* Cybb   Alliance of Genome Resources
immunodeficiency 35 TYK2* Tyk2   Alliance of Genome Resources
immunodeficiency 36 PIK3R1* Pik3r1   Alliance of Genome Resources
immunodeficiency 37 BCL10* Bcl10   Alliance of Genome Resources
immunodeficiency 38 ISG15* Isg15   Alliance of Genome Resources
immunodeficiency 39 IRF7* Irf7   Alliance of Genome Resources
immunodeficiency 40 DOCK2* Dock2   Alliance of Genome Resources
immunodeficiency 41 IL2RA* Il2ra   Alliance of Genome Resources
immunodeficiency 42 RORC* Rorc   Alliance of Genome Resources
immunodeficiency 43 B2M* B2m   Alliance of Genome Resources
immunodeficiency 44 STAT2* Stat2   Alliance of Genome Resources
immunodeficiency 45 IFNAR2* Ifnar2   Alliance of Genome Resources
immunodeficiency 46 TFRC* Tfrc   Alliance of Genome Resources
immunodeficiency 47 ATP6AP1* Atp6ap1   Alliance of Genome Resources
immunodeficiency 48 ZAP70* Zap70   Alliance of Genome Resources
immunodeficiency 49 BCL11B* Bcl11b   Alliance of Genome Resources
immunodeficiency 50 MSN* Msn   Alliance of Genome Resources
immunodeficiency 51 IL17RA* Il17ra   Alliance of Genome Resources
immunodeficiency 52 LAT* Lat   Alliance of Genome Resources
immunodeficiency 53 RELB* Relb   Alliance of Genome Resources
immunodeficiency 54 MCM4* Mcm4   Alliance of Genome Resources
immunodeficiency 55 GINS1* Gins1   Alliance of Genome Resources
immunodeficiency 56 IL21R* Il21r   Alliance of Genome Resources
immunodeficiency 57 RIPK1* Ripk1   Alliance of Genome Resources
immunodeficiency 58 CARMIL2* Carmil2   Alliance of Genome Resources
immunodeficiency 59 HYOU1* Hyou1   Alliance of Genome Resources
immunodeficiency 60 BACH2* Bach2   Alliance of Genome Resources
immunodeficiency 61 SH3KBP1* Sh3kbp1   Alliance of Genome Resources
immunodeficiency 62 ARHGEF1* Arhgef1   Alliance of Genome Resources
immunodeficiency 63 IL2RB* Il2rb   Alliance of Genome Resources
immunodeficiency 64 RASGRP1* Rasgrp1   Alliance of Genome Resources
immunodeficiency 65 IRF9* Irf9   Alliance of Genome Resources
immunodeficiency 66 MRTFA* Mrtfa   Alliance of Genome Resources
immunodeficiency 69 IFNG* Ifng   Alliance of Genome Resources
immunodeficiency 7 TRAC*, TRA Trac   Alliance of Genome Resources
immunodeficiency 70 IVNS1ABP* Ivns1abp   Alliance of Genome Resources
immunodeficiency 71 ARPC1B* Arpc1b   Alliance of Genome Resources
immunodeficiency 72 NCKAP1L* Nckap1l   Alliance of Genome Resources
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis RAC2* Rac2   Alliance of Genome Resources
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia RAC2* Rac2   Alliance of Genome Resources
immunodeficiency 79 CD4* Cd4   Alliance of Genome Resources
immunodeficiency 9 ORAI1* Orai1   Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 2 ZBTB24* Zbtb24   Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 3 CDCA7* Cdca7   Alliance of Genome Resources
immunodeficiency-centromeric instability-facial anomalies syndrome 4 HELLS* Hells   Alliance of Genome Resources
immunodeficiency with hyper IgM type 3 CD40* Cd40   Alliance of Genome Resources
immunodeficiency with hyper IgM type 5 UNG* Ung   Alliance of Genome Resources
immunoglobulin alpha deficiency ICOS* Icos   Alliance of Genome Resources
immunoglobulin alpha deficiency HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
immunoglobulin alpha deficiency CTLA4* Ctla4   Alliance of Genome Resources
inclusion body myopathy and brain white matter abnormalities ANXA11* Anxa11   Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 VCP* Vcp   Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 HNRNPA2B1* Hnrnpa2b1   Alliance of Genome Resources
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 HNRNPA1*, HNRNPA1L2 Hnrnpa1, Hnrnpa1l2-ps2   Alliance of Genome Resources
infantile cerebellar-retinal degeneration ACO2* Aco2   Alliance of Genome Resources
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly MED17* Med17   Alliance of Genome Resources
infantile hypotonia with psychomotor retardation and characteristic facies-3 TBCK* Tbck   Alliance of Genome Resources
infantile liver failure syndrome 1 LARS1* Lars1   Alliance of Genome Resources
infantile parkinsonism-dystonia 2 SLC18A2* Slc18a2   Alliance of Genome Resources
inflammatory bowel disease 14 IRF5* Irf5   Alliance of Genome Resources
inflammatory bowel disease 17 IL23R* Il23r   Alliance of Genome Resources
inflammatory bowel disease 19 IRGM* Igtp, Irgm1, Irgm2   Alliance of Genome Resources
inflammatory bowel disease 25 IL10RB* Il10rb   Alliance of Genome Resources
inflammatory bowel disease 28 IL10RA* Il10ra   Alliance of Genome Resources
inflammatory bowel disease 29 INAVA* Inava   Alliance of Genome Resources
inflammatory bowel disease 30 CARD8*  
inflammatory poikiloderma with hair abnormalities and acral keratoses LTV1* Ltv1   Alliance of Genome Resources
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PUS7* Pus7   Alliance of Genome Resources
intellectual developmental disorder with autistic features and language delay, with or without seizures TANC2* Tanc2   Alliance of Genome Resources
intellectual developmental disorder with cardiac arrhythmia GNB5* Gnb5   Alliance of Genome Resources
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies TNPO2* Tnpo2   Alliance of Genome Resources
intellectual developmental disorder with short stature and behavioral abnormalities IQSEC1* Iqsec1   Alliance of Genome Resources
intellectual disability-severe speech delay-mild dysmorphism syndrome FOXP1* Foxp1   Alliance of Genome Resources
intermediate spinal muscular atrophy SMN1*, SMN2 Smn1 1 model Alliance of Genome Resources
interstitial lung disease 1 SFTPA1*, SFTPA2 Sftpa1   Alliance of Genome Resources
interstitial lung disease 2 MUC5B* Muc5b   Alliance of Genome Resources
interstitial lung disease 2 SFTPA2*, SFTPA1 Sftpa1   Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 1 ATP8B1* Atp8b1   Alliance of Genome Resources
intrahepatic cholestasis of pregnancy 3 ABCB4* Abcb4   Alliance of Genome Resources
ischiocoxopodopatellar syndrome TBX4* Tbx4   Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels ANO5* Ano5   Alliance of Genome Resources
isolated elevated serum creatine phosphokinase levels CAV3* Cav3   Alliance of Genome Resources
isolated growth hormone deficiency type III BTK* Btk   Alliance of Genome Resources
isolated hyperchlorhidrosis CA12* Car12   Alliance of Genome Resources
isolated microphthalmia 2 VSX2* Vsx2   Alliance of Genome Resources
isolated microphthalmia 3 RAX* Rax   Alliance of Genome Resources
isolated microphthalmia 4 GDF6* Gdf6   Alliance of Genome Resources
isolated microphthalmia 5 MFRP* Mfrp   Alliance of Genome Resources
isolated microphthalmia 7 GDF3* Gdf3   Alliance of Genome Resources
isolated microphthalmia 8 ALDH1A3* Aldh1a3   Alliance of Genome Resources
isolated sulfite oxidase deficiency SUOX* Suox   Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 1 ITM2B* Itm2b   Alliance of Genome Resources
ITM2B-related cerebral amyloid angiopathy 2 ITM2B* Itm2b   Alliance of Genome Resources
IVIC syndrome SALL4* Sall4   Alliance of Genome Resources
Jackson-Weiss syndrome FGFR2* Fgfr2   Alliance of Genome Resources
Jackson-Weiss syndrome FGFR1* Fgfr1   Alliance of Genome Resources
Jalili syndrome CNNM4* Cnnm4   Alliance of Genome Resources
Jansen's metaphyseal chondrodysplasia PTH1R* Pth1r   Alliance of Genome Resources
Joubert syndrome ARL3* Arl3   Alliance of Genome Resources
Joubert syndrome TMEM218* Tmem218   Alliance of Genome Resources
Joubert syndrome TMEM216* Tmem216   Alliance of Genome Resources
Joubert syndrome INPP5E* Inpp5e   Alliance of Genome Resources
Joubert syndrome IFT74* Ift74   Alliance of Genome Resources
Joubert syndrome KIAA0753* 4933427D14Rik   Alliance of Genome Resources
Joubert syndrome B9D2* B9d2   Alliance of Genome Resources
Joubert syndrome FAM149B1* Fam149b   Alliance of Genome Resources
Joubert syndrome TOGARAM1* Togaram1   Alliance of Genome Resources
Joubert syndrome TMEM237* Tmem237   Alliance of Genome Resources
Joubert syndrome 1 INPP5E* Inpp5e   Alliance of Genome Resources
Joubert syndrome 10 OFD1* Ofd1   Alliance of Genome Resources
Joubert syndrome 13 TCTN1* Tctn1   Alliance of Genome Resources
Joubert syndrome 14 TMEM237* Tmem237   Alliance of Genome Resources
Joubert syndrome 15 CEP41* Cep41   Alliance of Genome Resources
Joubert syndrome 16 TMEM138* Tmem138   Alliance of Genome Resources
Joubert syndrome 18 TCTN3* Tctn3   Alliance of Genome Resources
Joubert syndrome 2 TMEM216* Tmem216   Alliance of Genome Resources
Joubert syndrome 20 TMEM231* Tmem231   Alliance of Genome Resources
Joubert syndrome 21 CSPP1* Cspp1   Alliance of Genome Resources
Joubert syndrome 22 PDE6D* Pde6d   Alliance of Genome Resources
Joubert syndrome 23 KIAA0586* 2700049A03Rik   Alliance of Genome Resources
Joubert syndrome 24 TCTN2* Tctn2   Alliance of Genome Resources
Joubert syndrome 25 CEP104* Cep104   Alliance of Genome Resources
Joubert syndrome 27 B9D1* B9d1   Alliance of Genome Resources
Joubert syndrome 28 MKS1* Mks1   Alliance of Genome Resources
Joubert syndrome 30 ARMC9* Armc9   Alliance of Genome Resources
Joubert syndrome 31 CEP120* Cep120   Alliance of Genome Resources
Joubert syndrome 32 SUFU* Sufu   Alliance of Genome Resources
Joubert syndrome 33 PIBF1* Pibf1   Alliance of Genome Resources
Joubert syndrome 4 NPHP4* Nphp4   Alliance of Genome Resources
Joubert syndrome 4 NPHP1* Nphp1   Alliance of Genome Resources
Joubert syndrome 4 AHI1* Ahi1   Alliance of Genome Resources
Joubert syndrome 8 ARL13B* Arl13b   Alliance of Genome Resources
Joubert syndrome 9 CC2D2A* Cc2d2a   Alliance of Genome Resources
Joubert syndrome with orofaciodigital defect CPLANE1* Cplane1   Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia ITGA6* Itga6   Alliance of Genome Resources
juvenile amyotrophic lateral sclerosis type 27 SPTLC1* Sptlc1   Alliance of Genome Resources
juvenile glaucoma MYOC* Myoc   Alliance of Genome Resources
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome SMAD4* Smad4   Alliance of Genome Resources
Kahrizi syndrome SRD5A3* Srd5a3   Alliance of Genome Resources
Kanzaki disease NAGA* Naga   Alliance of Genome Resources
Kartagener syndrome MBL2* Mbl2   Alliance of Genome Resources
Keipert syndrome GPC4* Gpc4   Alliance of Genome Resources
Kennedy's disease AR* Ar 1 model Alliance of Genome Resources
Kenny-Caffey syndrome type 1 TBCE* Tbce   Alliance of Genome Resources
Kenny-Caffey syndrome type 2 FAM111A* Fam111a   Alliance of Genome Resources
keratosis palmoplantaris striata 1 DSG1* Dsg1a, Dsg1b, Dsg1c   Alliance of Genome Resources
keratosis palmoplantaris striata 2 DSP* Dsp   Alliance of Genome Resources
keratosis palmoplantaris striata 3 KRT1* Krt1   Alliance of Genome Resources
keratosis pilaris atrophicans LRP1* Lrp1   Alliance of Genome Resources
King Denborough syndrome RYR1* Ryr1   Alliance of Genome Resources
Kleefstra syndrome 2 KMT2C* Kmt2c   Alliance of Genome Resources
Klippel-Feil syndrome 1 GDF6* Gdf6   Alliance of Genome Resources
Klippel-Feil syndrome 2 MEOX1* Meox1   Alliance of Genome Resources
Klippel-Feil syndrome 3 GDF3* Gdf3   Alliance of Genome Resources
Klippel-Feil syndrome 4 MYO18B* Myo18b   Alliance of Genome Resources
Kniest dysplasia COL2A1* Col2a1   Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 1 FGFR2* Fgfr2   Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 2 FGFR3* Fgfr3   Alliance of Genome Resources
lacrimoauriculodentodigital syndrome 3 FGF10* Fgf10   Alliance of Genome Resources
Larsen-like syndrome B3GAT3 type B3GAT3* B3gat3   Alliance of Genome Resources
Larsen syndrome FLNB* Flnb   Alliance of Genome Resources
lateral meningocele syndrome NOTCH3* Notch3   Alliance of Genome Resources
Laurence-Moon syndrome PNPLA6* Pnpla6   Alliance of Genome Resources
Laurin-Sandrow syndrome LMBR1* Lmbr1   Alliance of Genome Resources
Leber congenital amaurosis 11 IMPDH1* Impdh1   Alliance of Genome Resources
Leber congenital amaurosis 13 RDH12* Rdh12   Alliance of Genome Resources
Leber congenital amaurosis 15 TULP1* Tulp1   Alliance of Genome Resources
Leber congenital amaurosis 16 KCNJ13* Kcnj13   Alliance of Genome Resources
Leber congenital amaurosis 17 GDF6* Gdf6   Alliance of Genome Resources
Leber congenital amaurosis with early-onset deafness TUBB4B* Tubb4b   Alliance of Genome Resources
Legius syndrome SPRED1* Spred1   Alliance of Genome Resources
Lenz-Majewski hyperostotic dwarfism PTDSS1* Ptdss1   Alliance of Genome Resources
Lesch-Nyhan syndrome XDH* Xdh   Alliance of Genome Resources
lethal congenital contracture syndrome ZBTB42* Zbtb42   Alliance of Genome Resources
lethal congenital contracture syndrome ADCY6* Adcy6   Alliance of Genome Resources
lethal congenital contracture syndrome ADGRG6* Adgrg6   Alliance of Genome Resources
lethal congenital contracture syndrome CNTNAP1* Cntnap1   Alliance of Genome Resources
lethal congenital contracture syndrome DNM2* Dnm2   Alliance of Genome Resources
lethal congenital contracture syndrome GLDN* Gldn   Alliance of Genome Resources
lethal congenital contracture syndrome NEK9* Nek9   Alliance of Genome Resources
lethal congenital contracture syndrome 1 GLE1* Gle1   Alliance of Genome Resources
lethal congenital contracture syndrome 2 ERBB3* Erbb3   Alliance of Genome Resources
lethal congenital contracture syndrome 3 PIP5K1C* Pip5k1c   Alliance of Genome Resources
lethal congenital contracture syndrome 4 MYBPC1* Mybpc1   Alliance of Genome Resources
leucine-sensitive hypoglycemia of infancy ABCC8* Abcc8   Alliance of Genome Resources
leukocyte adhesion deficiency ITGB2* Itgb2, Itgb2l   Alliance of Genome Resources
leukocyte adhesion deficiency 1 FERMT3* Fermt3   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B2* Eif2b2   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 1 EIF2B1* Eif2b1   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 2 EIF2B2* Eif2b2   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 3 EIF2B3* Eif2b3   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 4 EIF2B4* Eif2b4   Alliance of Genome Resources
leukoencephalopathy with vanishing white matter 5 EIF2B5* Eif2b5   Alliance of Genome Resources
Leydig cell hypoplasia LHCGR* Lhcgr   Alliance of Genome Resources
Li-Fraumeni syndrome 1 TP53* Trp53   Alliance of Genome Resources
Li-Fraumeni syndrome 2 CHEK2* Chek2   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 1 HCCS* Hccs   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 2 COX7B* Cox7b   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 3 NDUFB11* Ndufb11, Ndufb11b   Alliance of Genome Resources
Lisch epithelial corneal dystrophy MCOLN1* Mcoln1   Alliance of Genome Resources
lissencephaly 1 PAFAH1B1* Pafah1b1   Alliance of Genome Resources
lissencephaly 10 CEP85L* Cep85l   Alliance of Genome Resources
lissencephaly 3 TUBA1A* Tuba1a   Alliance of Genome Resources
lissencephaly 4 NDE1* Nde1   Alliance of Genome Resources
lissencephaly 5 LAMB1* Lamb1   Alliance of Genome Resources
lissencephaly 6 KATNB1* Katnb1   Alliance of Genome Resources
lissencephaly 7 with cerebellar hypoplasia CDK5* Cdk5   Alliance of Genome Resources
lissencephaly 8 TMTC3* Tmtc3   Alliance of Genome Resources
lissencephaly 9 with complex brainstem malformation MACF1* Macf1   Alliance of Genome Resources
Loeys-Dietz syndrome 1 TGFBR1* Tgfbr1   Alliance of Genome Resources
Loeys-Dietz syndrome 2 TGFBR2* Tgfbr2   Alliance of Genome Resources
Loeys-Dietz syndrome 3 SMAD3* Smad3   Alliance of Genome Resources
Loeys-Dietz syndrome 4 TGFB2* Tgfb2   Alliance of Genome Resources
Loeys-Dietz syndrome 5 TGFB3* Tgfb3   Alliance of Genome Resources
Loeys-Dietz syndrome 6 SMAD2* Smad2   Alliance of Genome Resources
long QT syndrome 10 SCN4B* Scn4b   Alliance of Genome Resources
long QT syndrome 11 AKAP9* Akap9   Alliance of Genome Resources
long QT syndrome 12 SNTA1* Snta1   Alliance of Genome Resources
long QT syndrome 13 KCNJ5* Kcnj5   Alliance of Genome Resources
long QT syndrome 14 CALM1* Calm1   Alliance of Genome Resources
long QT syndrome 15 CALM2* Calm2   Alliance of Genome Resources
long QT syndrome 16 CALM3* Calm3   Alliance of Genome Resources
long QT syndrome 2 KCNH2* Kcnh2   Alliance of Genome Resources
long QT syndrome 2 ALG10B*, ALG10 Alg10b   Alliance of Genome Resources
long QT syndrome 5 KCNE1* Kcne1   Alliance of Genome Resources
long QT syndrome 6 KCNE2* Kcne2   Alliance of Genome Resources
long QT syndrome 8 CACNA1C* Cacna1c   Alliance of Genome Resources
long QT syndrome 9 CAV3* Cav3   Alliance of Genome Resources
low molecular weight proteinuria with hypercalciuric nephrocalcinosis CLCN5* Clcn5   Alliance of Genome Resources
Luo-Schoch-Yamamoto syndrome RNF2* Rnf2   Alliance of Genome Resources
lymphedema-distichiasis syndrome FOXC2* Foxc2   Alliance of Genome Resources
lymphoproliferative syndrome 1 ITK* Itk   Alliance of Genome Resources
lymphoproliferative syndrome 2 CD27* Cd27   Alliance of Genome Resources
Lynch syndrome RNASEL* Rnasel   Alliance of Genome Resources
Lynch syndrome RNASET2* Rnaset2a, Rnaset2b   Alliance of Genome Resources
Lynch syndrome SLC22A9*, SLC22A10, SLC22A24, SLC22A25 Slc22a19, Slc22a26, Slc22a27, Slc22a28, Slc22a29, Slc22a30   Alliance of Genome Resources
Lynch syndrome SMAD2* Smad2   Alliance of Genome Resources
Lynch syndrome TGFBR2* Tgfbr2   Alliance of Genome Resources
Lynch syndrome SMAD3* Smad3   Alliance of Genome Resources
Lynch syndrome TGFBR1* Tgfbr1   Alliance of Genome Resources
Lynch syndrome SMAD4* Smad4   Alliance of Genome Resources
Lynch syndrome TAF1B* Taf1b   Alliance of Genome Resources
Lynch syndrome TCF4* Tcf4   Alliance of Genome Resources
Lynch syndrome MLH3* Mlh3   Alliance of Genome Resources
Lynch syndrome ACVR2A* Acvr2a   Alliance of Genome Resources
Lynch syndrome ASTE1* Aste1   Alliance of Genome Resources
Lynch syndrome E2F4* E2f4   Alliance of Genome Resources
Lynch syndrome GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
Lynch syndrome GSTT1* Gstt1   Alliance of Genome Resources
Lynch syndrome KRAS* Kras   Alliance of Genome Resources
Lynch syndrome MARCKS* Marcks   Alliance of Genome Resources
Lynch syndrome MRE11* Mre11a   Alliance of Genome Resources
Lynch syndrome MSH6* Msh6   Alliance of Genome Resources
Lynch syndrome PMS1* Pms1   Alliance of Genome Resources
Lynch syndrome PMS2*, PMS2P1, PMS2P2, PMS2P6 Pms2   Alliance of Genome Resources
Lynch syndrome 1 MSH2* Msh2   Alliance of Genome Resources
Machado-Joseph disease BECN1* Becn1   Alliance of Genome Resources
Machado-Joseph disease ATXN3* Atxn3 1 model Alliance of Genome Resources
malignant hyperthermia CACNG1* Cacng1   Alliance of Genome Resources
malignant hyperthermia CACNA1S* Cacna1s   Alliance of Genome Resources
mandibuloacral dysplasia type B lipodystrophy ZMPSTE24* Zmpste24   Alliance of Genome Resources
mandibulofacial dysostosis, Guion-Almeida type EFTUD2* Eftud2 2 "NOT" models Alliance of Genome Resources
Martsolf syndrome RAB3GAP2* Rab3gap2   Alliance of Genome Resources
maturity-onset diabetes of the young HNF1A* Hnf1a   Alliance of Genome Resources
maturity-onset diabetes of the young type 10 INS* Ins1, Ins2   Alliance of Genome Resources
maturity-onset diabetes of the young type 11 BLK* Blk   Alliance of Genome Resources
maturity-onset diabetes of the young type 13 KCNJ11* Kcnj11   Alliance of Genome Resources
maturity-onset diabetes of the young type 14 APPL1* Appl1   Alliance of Genome Resources
maturity-onset diabetes of the young type 5 HNF1B* Hnf1b   Alliance of Genome Resources
maturity-onset diabetes of the young type 6 NEUROD1* Neurod1   Alliance of Genome Resources
maturity-onset diabetes of the young type 7 KLF11* Klf11   Alliance of Genome Resources
maturity-onset diabetes of the young type 8 CEL* Cel   Alliance of Genome Resources
maturity-onset diabetes of the young type 9 PAX4* Pax4   Alliance of Genome Resources
McKusick-Kaufman syndrome MKKS* Mkks   Alliance of Genome Resources
McLeod syndrome XK* Xk   Alliance of Genome Resources
Meckel syndrome KIF14* Kif14   Alliance of Genome Resources
Meckel syndrome TMEM231* Tmem231   Alliance of Genome Resources
Meckel syndrome TXNDC15* Txndc15   Alliance of Genome Resources
Meckel syndrome 1 MKS1* Mks1   Alliance of Genome Resources
Meckel syndrome 13 TMEM107* Tmem107   Alliance of Genome Resources
Meckel syndrome 2 TMEM216* Tmem216   Alliance of Genome Resources
Meckel syndrome 3 TMEM67* Tmem67   Alliance of Genome Resources
Meckel syndrome 4 CEP290* Cep290   Alliance of Genome Resources
Meckel syndrome 5 RPGRIP1L* Rpgrip1l   Alliance of Genome Resources
Meckel syndrome 6 CC2D2A* Cc2d2a   Alliance of Genome Resources
Meckel syndrome 7 NPHP3* Nphp3   Alliance of Genome Resources
Meckel syndrome 8 TCTN2* Tctn2   Alliance of Genome Resources
Meesmann corneal dystrophy 1 KRT12* Krt12   Alliance of Genome Resources
Meesmann corneal dystrophy 2 KRT3*  
Meester-Loeys syndrome BGN* Bgn   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2A HEPACAM* Hepacam   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2B HEPACAM* Hepacam   Alliance of Genome Resources
megalocornea LTBP2* Ltbp2   Alliance of Genome Resources
MEHMO syndrome EIF2S3*, EIF2S3B Eif2s3x   Alliance of Genome Resources
Meier-Gorlin syndrome 1 ORC1* Orc1   Alliance of Genome Resources
Meier-Gorlin syndrome 2 ORC4* Orc4   Alliance of Genome Resources
Meier-Gorlin syndrome 3 ORC6* Orc6   Alliance of Genome Resources
Meier-Gorlin syndrome 4 CDT1* Cdt1   Alliance of Genome Resources
Meier-Gorlin syndrome 5 CDC6* Cdc6   Alliance of Genome Resources
Meier-Gorlin syndrome 6 GMNN* Gmnn   Alliance of Genome Resources
Meier-Gorlin syndrome 7 CDC45* Cdc45   Alliance of Genome Resources
Meier-Gorlin syndrome 8 MCM5* Mcm5   Alliance of Genome Resources
melanoma and neural system tumor syndrome CDKN2A* Cdkn2a   Alliance of Genome Resources
Melnick-Needles syndrome FLNA* Flna   Alliance of Genome Resources
MEND syndrome EBP* Ebp   Alliance of Genome Resources
metachondromatosis PTPN11* Ptpn11   Alliance of Genome Resources
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome RUNX2* Runx2   Alliance of Genome Resources
metatropic dysplasia TRPV4* Trpv4   Alliance of Genome Resources
methemoglobinemia and ambiguous genitalia CYB5A* Cyb5a   Alliance of Genome Resources
microcephalic osteodysplastic primordial dwarfism type I RNU4ATAC*  
microcephaly and chorioretinopathy 1 TUBGCP6* Tubgcp6   Alliance of Genome Resources
microcephaly and chorioretinopathy 2 PLK4* Plk4   Alliance of Genome Resources
microcephaly and chorioretinopathy 3 TUBGCP4* Tubgcp4   Alliance of Genome Resources
microcephaly, seizures, and developmental delay PNKP* Pnkp   Alliance of Genome Resources
microcephaly, short stature, and limb abnormalities DONSON* Donson   Alliance of Genome Resources
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation KIF11* Kif11   Alliance of Genome Resources
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis AMMECR1* Ammecr1   Alliance of Genome Resources
Miles-Carpenter syndrome ZC4H2* Zc4h2   Alliance of Genome Resources
mismatch repair cancer syndrome PMS2*, PMS2P1, PMS2P2, PMS2P6 Pms2   Alliance of Genome Resources
mismatch repair cancer syndrome RNASET2* Rnaset2a, Rnaset2b   Alliance of Genome Resources
mismatch repair cancer syndrome SLC22A9*, SLC22A10, SLC22A24, SLC22A25 Slc22a19, Slc22a26, Slc22a27, Slc22a28, Slc22a29, Slc22a30   Alliance of Genome Resources
mismatch repair cancer syndrome MSH6* Msh6   Alliance of Genome Resources
mismatch repair cancer syndrome MSH2* Msh2   Alliance of Genome Resources
mismatch repair cancer syndrome MLH1* Mlh1   Alliance of Genome Resources
mismatch repair cancer syndrome ASTE1* Aste1   Alliance of Genome Resources
mismatch repair cancer syndrome TP53* Trp53   Alliance of Genome Resources
mismatch repair cancer syndrome TAF1B* Taf1b   Alliance of Genome Resources
mismatch repair cancer syndrome TFDP1*, TFDP3 Tfdp1   Alliance of Genome Resources
mismatch repair cancer syndrome TGFBR2* Tgfbr2   Alliance of Genome Resources
mismatch repair cancer syndrome POLE* Pole   Alliance of Genome Resources
Mitchell syndrome ACOX1* Acox1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 1 SURF1* Surf1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 10 COX14* Cox14   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 11 COX20* Cox20   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 12 PET100* Pet100   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 13 COA6* Coa6   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 14 COA3* Coa3   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 15 COX8A* Cox8a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 16 COX4I1* Cox4i1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 17 COA8* Coa8   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 18 COX6A2* Cox6a2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 19 PET117* Pet117   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 2 SCO2* Sco2   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 20 COX5A* Cox5a   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 21 NDUFA4* Ndufa4   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 22 COX16* Cox16   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 23 COX11* Cox11   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 3 COX10* Cox10   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 4 SCO1* Sco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 6 COX15* Cox15   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 7 COX6B1* Cox6b1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 8 TACO1* Taco1   Alliance of Genome Resources
mitochondrial complex IV deficiency nuclear type 9 COA5* Coa5   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B ATP5F1A* Atp5f1a   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ATP5F1D* Atp5f1d   Alliance of Genome Resources
mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ATP5PO* Atp5po   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 1 TYMP* Tymp 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 11 MGME1* Mgme1   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12a SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 12b SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 13 FBXL4* Fbxl4   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 15 TFAM* Tfam   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16 POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 16B POLG2* Polg2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 17 MRM2* Mrm2   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 18 SLC25A21* Slc25a21   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 19 SLC25A10* Slc25a10   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 20 LIG3* Lig3   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 DGUOK* Dguok   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 4b POLG* Polg   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 6 MPV17* Mpv17   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 7 TWNK* Twnk   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8a RRM2B* Rrm2b   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 8b RRM2B* Rrm2b   Alliance of Genome Resources
mitochondrial DNA depletion syndrome 9 SUCLG1* Suclg1   Alliance of Genome Resources
mitochondrial pyruvate carrier deficiency MPC1* Mpc1   Alliance of Genome Resources
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency ECHS1* Echs1   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHB* Hadhb   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHA* Hadha   Alliance of Genome Resources
Miura type epiphyseal chondrodysplasia NPR2* Npr2   Alliance of Genome Resources
Miyoshi muscular dystrophy 1 DYSF* Dysf   Alliance of Genome Resources
Miyoshi muscular dystrophy 3 ANO5* Ano5   Alliance of Genome Resources
monilethrix KRT81*, KRT83*, KRT86*, KRT87P Krt81, Krt83, Krt86, Krt87   Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 2 CEP57* Cep57   Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 3 TRIP13* Trip13   Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 4 CENATAC* Cenatac   Alliance of Genome Resources
Muckle-Wells syndrome IL1RN* Il1rn   Alliance of Genome Resources
Muckle-Wells syndrome NLRP3* Nlrp3   Alliance of Genome Resources
mucolipidosis III alpha/beta GNPTAB* Gnptab   Alliance of Genome Resources
mucolipidosis III gamma GNPTG* Gnptg   Alliance of Genome Resources
mucopolysaccharidosis Ih IDUA* Idua   Alliance of Genome Resources
mucopolysaccharidosis Ih/s IDUA* Idua   Alliance of Genome Resources
mucopolysaccharidosis IVA GALNS* Galns   Alliance of Genome Resources
mucopolysaccharidosis type IIIA SGSH* Sgsh   Alliance of Genome Resources
mucopolysaccharidosis type IIIB NAGLU* Naglu   Alliance of Genome Resources
mucopolysaccharidosis type IIIC HGSNAT* Hgsnat   Alliance of Genome Resources
mucopolysaccharidosis type IIID GNS* Gns   Alliance of Genome Resources
mucopolysaccharidosis type IVB GLB1* Glb1   Alliance of Genome Resources
Muir-Torre syndrome MSH2* Msh2   Alliance of Genome Resources
Muir-Torre syndrome MLH1* Mlh1   Alliance of Genome Resources
Mullegama-Klein-Martinez syndrome STAG2* Stag2   Alliance of Genome Resources
Mullerian aplasia and hyperandrogenism WNT4* Wnt4   Alliance of Genome Resources
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly CEP55* Cep55   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGN* Pign   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGA* Piga   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGT* Pigt   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 4 PIGQ* Pigq   Alliance of Genome Resources
multiple cutaneous and mucosal venous malformations TEK* Tek   Alliance of Genome Resources
multiple endocrine neoplasia type 2A RET* Ret   Alliance of Genome Resources
multiple endocrine neoplasia type 4 CDKN1B* Cdkn1b   Alliance of Genome Resources
multiple epiphyseal dysplasia 1 COMP* Comp   Alliance of Genome Resources
multiple epiphyseal dysplasia 2 COL9A2* Col9a2   Alliance of Genome Resources
multiple epiphyseal dysplasia 3 COL9A3* Col9a3   Alliance of Genome Resources
multiple epiphyseal dysplasia 4 SLC26A2* Slc26a2   Alliance of Genome Resources
multiple epiphyseal dysplasia 6 COL9A1* Col9a1   Alliance of Genome Resources
multiple epiphyseal dysplasia 7 CANT1* Cant1   Alliance of Genome Resources
multiple epiphyseal dysplasia with myopia and deafness COL2A1* Col2a1   Alliance of Genome Resources
multiple intestinal atresia TTC7A* Ttc7   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 1 NFU1* Nfu1   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 2 BOLA3* Bola3   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 3 IBA57* Iba57   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 4 ISCA2* Isca2   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 5 ISCA1* AK157302, Isca1   Alliance of Genome Resources
multiple mitochondrial dysfunctions syndrome 6 PMPCB* Pmpcb   Alliance of Genome Resources
multiple synostoses syndrome 1 NOG* Nog   Alliance of Genome Resources
multiple synostoses syndrome 1 GDF5* Gdf5   Alliance of Genome Resources
multiple synostoses syndrome 2 GDF5* Gdf5   Alliance of Genome Resources
multiple synostoses syndrome 3 FGF9* Fgf9   Alliance of Genome Resources
multiple synostoses syndrome 4 GDF6* Gdf6   Alliance of Genome Resources
multiple types of congenital heart defects 6 GDF1* Gdf1   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B14 GMPPB* Gmppb   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B15 DPM3* Dpm3   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B2 POMT2* Pomt2   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B3 POMGNT1* Pomgnt1   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B4 FKTN* Fktn   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C12 POMK* Pomk   Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type C8 POMGNT2* Pomgnt2   Alliance of Genome Resources
myoclonic-atonic epilepsy TBC1D24* Tbc1d24   Alliance of Genome Resources
myoclonic-atonic epilepsy SLC6A1* Slc6a1   Alliance of Genome Resources
myoclonic dystonia 26 KCTD17* Kctd17   Alliance of Genome Resources
myoclonic dystonia 34 KCNN2* Kcnn2   Alliance of Genome Resources
myofibrillar myopathy 10 SVIL* Svil   Alliance of Genome Resources
myofibrillar myopathy 3 MYOT* Myot 1 "NOT" model Alliance of Genome Resources
myofibrillar myopathy 4 LDB3* Ldb3   Alliance of Genome Resources
myofibrillar myopathy 6 BAG3* Bag3   Alliance of Genome Resources
myofibrillar myopathy 7 KY* Ky   Alliance of Genome Resources
myofibrillar myopathy 8 PYROXD1* Pyroxd1   Alliance of Genome Resources
myopathy with extrapyramidal signs MICU1* Micu1   Alliance of Genome Resources
N-acetylglutamate synthase deficiency NAGS* Nags   Alliance of Genome Resources
Naegeli-Franceschetti-Jadassohn syndrome KRT14* Krt14   Alliance of Genome Resources
Nagashima-type palmoplantar keratosis SERPINB7* Serpinb7   Alliance of Genome Resources
Native American myopathy STAC3* Stac3   Alliance of Genome Resources
nemaline myopathy 1 TPM3* Tpm3   Alliance of Genome Resources
nemaline myopathy 4 TPM2* Tpm2   Alliance of Genome Resources
nemaline myopathy 5B TNNT1* Tnnt1   Alliance of Genome Resources
nemaline myopathy 5C TNNT1* Tnnt1   Alliance of Genome Resources
nemaline myopathy 7 CFL2* Cfl2   Alliance of Genome Resources
nemaline myopathy 9 KLHL41* Klhl41   Alliance of Genome Resources
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome ATAD3A*, ATAD3B, ATAD3C Atad3a   Alliance of Genome Resources
neonatal-onset type II citrullinemia SLC25A13* Slc25a13   Alliance of Genome Resources
nephrogenic diabetes insipidus type 2 AQP2* Aqp2   Alliance of Genome Resources
nephrogenic syndrome of inappropriate antidiuresis AVPR2* Avpr2   Alliance of Genome Resources
nephronophthisis SLC41A1* Slc41a1   Alliance of Genome Resources
nephronophthisis TMEM67* Tmem67   Alliance of Genome Resources
nephronophthisis RPGRIP1L* Rpgrip1l   Alliance of Genome Resources
nephronophthisis NPHP4* Nphp4   Alliance of Genome Resources
nephronophthisis NPHP3* Nphp3   Alliance of Genome Resources
nephronophthisis NPHP1* Nphp1   Alliance of Genome Resources
nephronophthisis IQCB1* Iqcb1   Alliance of Genome Resources
nephronophthisis 11 TMEM67* Tmem67   Alliance of Genome Resources
nephronophthisis 12 TTC21B* Ttc21b   Alliance of Genome Resources
nephronophthisis 13 WDR19* Wdr19   Alliance of Genome Resources
nephronophthisis 14 ZNF423* Zfp423   Alliance of Genome Resources
nephronophthisis 15 CEP164* Cep164   Alliance of Genome Resources
nephronophthisis 16 ANKS6* Anks6   Alliance of Genome Resources
nephronophthisis 18 CEP83* Cep83   Alliance of Genome Resources
nephronophthisis 19 DCDC2* Dcdc2a   Alliance of Genome Resources
nephronophthisis 20 MAPKBP1* Mapkbp1   Alliance of Genome Resources
nephronophthisis 9 NEK8* Nek8   Alliance of Genome Resources
nephronophthisis-like nephropathy 1 XPNPEP3* Xpnpep3   Alliance of Genome Resources
nephrotic syndrome type 1 NPHS1* Nphs1   Alliance of Genome Resources
nephrotic syndrome type 10 EMP2* Emp2   Alliance of Genome Resources
nephrotic syndrome type 11 NUP107* Nup107   Alliance of Genome Resources
nephrotic syndrome type 12 NUP93* Nup93   Alliance of Genome Resources
nephrotic syndrome type 13 NUP205* Nup205   Alliance of Genome Resources
nephrotic syndrome type 14 SGPL1* Sgpl1   Alliance of Genome Resources
nephrotic syndrome type 15 MAGI2* Magi2   Alliance of Genome Resources
nephrotic syndrome type 16 KANK2* Kank2   Alliance of Genome Resources
nephrotic syndrome type 17 NUP85* Nup85   Alliance of Genome Resources
nephrotic syndrome type 18 NUP133* Nup133   Alliance of Genome Resources
nephrotic syndrome type 19 NUP160* Nup160   Alliance of Genome Resources
nephrotic syndrome type 2 PLCE1* Plce1   Alliance of Genome Resources
nephrotic syndrome type 2 NPHS2* Nphs2   Alliance of Genome Resources
nephrotic syndrome type 2 TRPC6* Trpc6   Alliance of Genome Resources
nephrotic syndrome type 2 PLA2G7* Pla2g7   Alliance of Genome Resources
nephrotic syndrome type 20 TBC1D8B* Tbc1d8b   Alliance of Genome Resources
nephrotic syndrome type 21 AVIL* Avil   Alliance of Genome Resources
nephrotic syndrome type 22 NOS1AP* Nos1ap   Alliance of Genome Resources
nephrotic syndrome type 23 KIRREL1* Kirrel1   Alliance of Genome Resources
nephrotic syndrome type 3 PLCE1* Plce1   Alliance of Genome Resources
nephrotic syndrome type 4 WT1* Wt1   Alliance of Genome Resources
nephrotic syndrome type 5 LAMB2* Lamb2   Alliance of Genome Resources
nephrotic syndrome type 6 PTPRO* Ptpro   Alliance of Genome Resources
nephrotic syndrome type 7 DGKE* Dgke   Alliance of Genome Resources
nephrotic syndrome type 8 ARHGDIA* Arhgdia   Alliance of Genome Resources
nephrotic syndrome type 9 COQ8B* Coq8b   Alliance of Genome Resources
NESCAV syndrome KIF1A* Kif1a   Alliance of Genome Resources
Nestor-Guillermo progeria syndrome BANF1* Banf1   Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2b PLA2G6* Pla2g6   Alliance of Genome Resources
neurodegeneration with brain iron accumulation 3 FTL* Ftl1, Ftl1-ps2, Ftl2-ps   Alliance of Genome Resources
neurodegeneration with brain iron accumulation 4 C19orf12* 1600014C10Rik   Alliance of Genome Resources
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies ADAT3* Adat3   Alliance of Genome Resources
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities SHMT2* Shmt2   Alliance of Genome Resources
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction GEMIN5* Gemin5   Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities SRSF1* Srsf1   Alliance of Genome Resources
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum SUPT16H* Supt16   Alliance of Genome Resources
neurodevelopmental disorder with eye movement abnormalities and ataxia FRMD5* Frmd5   Alliance of Genome Resources
neurodevelopmental disorder with hypotonia and speech delay EIF4A2* Eif4a2   Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures CACNA1C* Cacna1c   Alliance of Genome Resources
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MEF2C* Mef2c   Alliance of Genome Resources
neurodevelopmental disorder with language delay and seizures TIAM1* Tiam1   Alliance of Genome Resources
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities GEMIN4* Gemin4   Alliance of Genome Resources
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy TRAPPC6B* Trappc6b   Alliance of Genome Resources
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities INTS11* Ints11   Alliance of Genome Resources
neurodevelopmental disorder with poor growth and behavioral abnormalities ATP9A* Atp9a   Alliance of Genome Resources
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PSMC1* Psmc1   Alliance of Genome Resources
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties DPH5* Dph5   Alliance of Genome Resources
neurodevelopmental disorder with spasticity and poor growth UFC1* Ufc1   Alliance of Genome Resources
neurodevelopmental disorder with spastic paraplegia and microcephaly GPT2* Gpt2   Alliance of Genome Resources
neurodevelopmental disorder with speech impairment and dysmorphic facies SETD1A* Setd1a   Alliance of Genome Resources
neurofibromatosis-Noonan syndrome NF1* Nf1   Alliance of Genome Resources
neurogenic scapuloperoneal syndrome Kaeser type DES* Des   Alliance of Genome Resources
neurogenic-type arthrogryposis multiplex congenita-2 ERGIC1* Ergic1   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 11 GRN* Grn   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 13 CTSF* Ctsf   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 4 DNAJC5* Dnajc5   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 6B CLN6* Cln6   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 northern epilepsy variant CLN8* Cln8   Alliance of Genome Resources
neuronal intranuclear inclusion disease NOTCH2NLC*  
neurooculocardiogenitourinary syndrome WDR37* Wdr37   Alliance of Genome Resources
nevoid basal cell carcinoma syndrome 1 PTCH1* Ptch1   Alliance of Genome Resources
Newfoundland cone-rod dystrophy RLBP1* Rlbp1   Alliance of Genome Resources
NFIA-related disorder NFIA* Nfia   Alliance of Genome Resources
Nicolaides-Baraitser syndrome SMARCA2* Smarca2   Alliance of Genome Resources
nonautoimmune hyperthyroidism TSHR* Tshr   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 4 MPLKIP* Mplkip, Mplkipl1   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 5 RNF113A* Rnf113a1, Rnf113a2   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 6 GTF2E2* Gtf2e2   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 7 TARS1* Tars1   Alliance of Genome Resources
nonprogressive cerebellar ataxia with mental retardation CAMTA1* Camta1   Alliance of Genome Resources
nonsyndromic congenital nail disorder 1 FZD6* Fzd6   Alliance of Genome Resources
nonsyndromic congenital nail disorder 3 PLCD1* Plcd1   Alliance of Genome Resources
nonsyndromic congenital nail disorder 4 RSPO4* Rspo4   Alliance of Genome Resources
nonsyndromic congenital nail disorder 8 COL7A1* Col7a1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability CSTF2* Cstf2   Alliance of Genome Resources
non-syndromic X-linked intellectual disability FGD1* Fgd1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability FGF13* Fgf13   Alliance of Genome Resources
non-syndromic X-linked intellectual disability ZMYM3* Zmym3   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 1 IQSEC2* Iqsec2   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 100 KIF4A*, KIF4B Kif4   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 101 MID2* Mid2   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 103 KLHL15* Klhl15   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 104 FRMPD4* Frmpd4   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 105 USP27X* Usp27x   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 106 OGT* Ogt   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 107 STEEP1* Steep1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 19 RPS6KA3* Rps6ka3   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 21 IL1RAPL1* Il1rapl1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 41 GDI1* Gdi1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 50 SYN1* Syn1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 58 TSPAN7* Tspan7   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 63 ACSL4* Acsl4   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 90 DLG3* Dlg3   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 93 BRWD3* Brwd3   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 96 SYP* Syp   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 97 ZNF711* Zfp711   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 99 USP9X* Usp9x   Alliance of Genome Resources
non-syndromic X-linked intellectual disability ARX-related ARX* Arx   Alliance of Genome Resources
Noonan syndrome RAF1* Raf1   Alliance of Genome Resources
Noonan syndrome SPRED2* Spred2   Alliance of Genome Resources
Noonan syndrome SOS1* Sos1   Alliance of Genome Resources
Noonan syndrome RIT1* Rit1   Alliance of Genome Resources
Noonan syndrome RASA2* Rasa2   Alliance of Genome Resources
Noonan syndrome KRAS* Kras   Alliance of Genome Resources
Noonan syndrome LZTR1* Lztr1   Alliance of Genome Resources
Noonan syndrome PTPN11* Ptpn11   Alliance of Genome Resources
Noonan syndrome 11 MRAS* Mras   Alliance of Genome Resources
Noonan syndrome 12 RRAS2* Rras2   Alliance of Genome Resources
Noonan syndrome 13 MAPK1* Mapk1   Alliance of Genome Resources
Noonan syndrome 2 LZTR1* Lztr1   Alliance of Genome Resources
Noonan syndrome 6 NRAS* Nras   Alliance of Genome Resources
Noonan syndrome 7 BRAF* Braf   Alliance of Genome Resources
Noonan syndrome 9 SOS2* Sos2   Alliance of Genome Resources
Noonan syndrome with multiple lentigines 1 PTPN11* Ptpn11   Alliance of Genome Resources
Noonan syndrome with multiple lentigines 2 RAF1* Raf1   Alliance of Genome Resources
Noonan syndrome with multiple lentigines 3 BRAF* Braf   Alliance of Genome Resources
Norman-Roberts syndrome RELN* Reln   Alliance of Genome Resources
nuclear senile cataract FTO* Fto   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 1 NDUFS4* Ndufs4   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 10 NDUFAF2* Ndufaf2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 11 NDUFAF1* Ndufaf1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 12 NDUFA1* Ndufa1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 13 NDUFA2* Ndufa2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 14 NDUFA11* Ndufa11, Ndufa11b   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 15 NDUFAF4* Ndufaf4   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 16 NDUFAF5* Ndufaf5   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 17 NDUFAF6* Ndufaf6   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 18 NDUFAF3* Ndufaf3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 19 FOXRED1* Foxred1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 2 NDUFS8* Ndufs8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 21 NUBPL* Nubpl   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 22 NDUFA10* Ndufa10   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 23 NDUFA12* Ndufa12   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 24 NDUFB9* Ndufb9   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 25 NDUFB3* Ndufb3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 26 NDUFA9* Ndufa9   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 27 MTFMT* Mtfmt   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 28 NDUFA13* Ndufa13   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 29 TMEM126B* Tmem126b   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 3 NDUFS7* Ndufs7   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 30 NDUFB11* Ndufb11, Ndufb11b   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 31 TIMMDC1* Timmdc1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 32 NDUFB8* Ndufb8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 33 NDUFA6* Ndufa6   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 34 NDUFAF8* Ndufaf8   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 35 NDUFB10* Ndufb10   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 4 NDUFV1* Ndufv1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 5 NDUFS1* Ndufs1   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 6 NDUFS2* Ndufs2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 7 NDUFV2* Ndufv2   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 8 NDUFS3* Ndufs3   Alliance of Genome Resources
nuclear type mitochondrial complex I deficiency 9 NDUFS6* Ndufs6, Ndufs6b   Alliance of Genome Resources
oblique facial clefting 1 SPECC1L* Specc1l   Alliance of Genome Resources
occipital horn syndrome ATP7A* Atp7a   Alliance of Genome Resources
oculocerebrorenal syndrome OCRL* Ocrl 2 models Alliance of Genome Resources
oculocutaneous albinism TYRP1* Tyrp1   Alliance of Genome Resources
oculocutaneous albinism DCT* Dct   Alliance of Genome Resources
oculocutaneous albinism HPS1* Hps1   Alliance of Genome Resources
oculocutaneous albinism type IA TYR* Tyr   Alliance of Genome Resources
oculocutaneous albinism type IB TYR* Tyr   Alliance of Genome Resources
oculocutaneous albinism type II OCA2* Oca2   Alliance of Genome Resources
oculocutaneous albinism type II MC1R* Mc1r   Alliance of Genome Resources
oculocutaneous albinism type III TYRP1* Tyrp1   Alliance of Genome Resources
oculocutaneous albinism type IV SLC45A2* Slc45a2   Alliance of Genome Resources
oculocutaneous albinism type VI SLC24A5* Slc24a5   Alliance of Genome Resources
oculocutaneous albinism type VII LRMDA* Lrmda   Alliance of Genome Resources
oculopharyngodistal myopathy 1 LRP12* Lrp12   Alliance of Genome Resources
oculopharyngodistal myopathy 2 GIPC1* Gipc1   Alliance of Genome Resources
oculopharyngodistal myopathy 3 NOTCH2NLC*  
oculopharyngodistal myopathy 4 RILPL1* Rilpl1   Alliance of Genome Resources
Ogden syndrome NAA10* Naa10   Alliance of Genome Resources
Oguchi disease-1 SAG* Sag   Alliance of Genome Resources
Oliver-McFarlane syndrome PNPLA6* Pnpla6   Alliance of Genome Resources
omodysplasia 1 GPC6* Gpc6   Alliance of Genome Resources
omodysplasia 2 FZD2* Fzd2   Alliance of Genome Resources
optic atrophy 1 WFS1* Wfs1   Alliance of Genome Resources
optic atrophy 1 OPA1* Opa1   Alliance of Genome Resources
optic atrophy 10 RTN4IP1* Rtn4ip1   Alliance of Genome Resources
optic atrophy 11 YME1L1* Yme1l1   Alliance of Genome Resources
optic atrophy 12 AFG3L2* Afg3l2   Alliance of Genome Resources
optic atrophy 3 OPA3* Opa3   Alliance of Genome Resources
optic atrophy 5 DNM1L* Dnm1l   Alliance of Genome Resources
optic atrophy 7 TMEM126A* Tmem126a   Alliance of Genome Resources
optic atrophy 9 ACO2* Aco2   Alliance of Genome Resources
optic disc anomalies with retinal and/or macular dystrophy SIX6* Six6   Alliance of Genome Resources
orofacial cleft 6 IRF6* Irf6   Alliance of Genome Resources
orofaciodigital syndrome II NEK1* Nek1   Alliance of Genome Resources
orofaciodigital syndrome IV TCTN3* Tctn3   Alliance of Genome Resources
orofaciodigital syndrome V DDX59* Ddx59   Alliance of Genome Resources
orofaciodigital syndrome XIV C2CD3* C2cd3   Alliance of Genome Resources
orofaciodigital syndrome XIX SCNM1* Scnm1   Alliance of Genome Resources
orofaciodigital syndrome XVI TMEM107* Tmem107   Alliance of Genome Resources
orofaciodigital syndrome XVII INTU* Intu   Alliance of Genome Resources
orofaciodigital syndrome XVIII IFT57* Ift57   Alliance of Genome Resources
orofaciodigital syndrome XX RAB34* Rab34   Alliance of Genome Resources
osteogenesis imperfecta type 11 FKBP10* Fkbp10   Alliance of Genome Resources
osteogenesis imperfecta type 12 SP7* Sp7   Alliance of Genome Resources
osteogenesis imperfecta type 13 BMP1* Bmp1   Alliance of Genome Resources
osteogenesis imperfecta type 14 TMEM38B* Tmem38b   Alliance of Genome Resources
osteogenesis imperfecta type 15 WNT1* Wnt1   Alliance of Genome Resources
osteogenesis imperfecta type 17 SPARC* Sparc   Alliance of Genome Resources
osteogenesis imperfecta type 18 TENT5A* Tent5a   Alliance of Genome Resources
osteogenesis imperfecta type 19 MBTPS2* Mbtps2   Alliance of Genome Resources
osteogenesis imperfecta type 2 COL1A2* Col1a2   Alliance of Genome Resources
osteogenesis imperfecta type 20 MESD* Mesd   Alliance of Genome Resources
osteogenesis imperfecta type 21 KDELR2* Kdelr2   Alliance of Genome Resources
osteogenesis imperfecta type 4 COL1A2* Col1a2   Alliance of Genome Resources
osteoglophonic dysplasia FGFR1* Fgfr1   Alliance of Genome Resources
osteosclerotic metaphyseal dysplasia LRRK1* Lrrk1   Alliance of Genome Resources
otopalatodigital syndrome type 1 FLNA* Flna   Alliance of Genome Resources
otopalatodigital syndrome type 2 FLNA* Flna   Alliance of Genome Resources
otosclerosis BMP2* Bmp2   Alliance of Genome Resources
otosclerosis BMP4* Bmp4   Alliance of Genome Resources
otosclerosis VDR* Vdr   Alliance of Genome Resources
otosclerosis AGT* Agt   Alliance of Genome Resources
otosclerosis HLA-B*, HLA-A, HLA-C, HLA-E, HLA-F, HLA-G, HLA-H H2-D1, H2-K1, H2-L, H2-M1, H2-M2, H2-M3, H2-M5, H2-M9, H2-M10.1, H2-M10.2, H2-M10.3, H2-M10.4, H2-M10.5, H2-M10.6, H2-M11, H2-Q1, H2-Q2, H2-Q4, H2-Q6, H2-Q7, H2-Q8, H2-Q10, H2-T3, H2-T10, H2-T22, H2-T23   Alliance of Genome Resources
otosclerosis COL1A1* Col1a1   Alliance of Genome Resources
otosclerosis 11 FOXL1* Foxl1   Alliance of Genome Resources
otospondylomegaepiphyseal dysplasia, autosomal dominant COL11A2* Col11a2   Alliance of Genome Resources
otulipenia OTULIN* Otulin   Alliance of Genome Resources
ovarian dysgenesis 1 FSHR* Fshr   Alliance of Genome Resources
ovarian dysgenesis 2 BMP15* Bmp15   Alliance of Genome Resources
ovarian dysgenesis 3 PSMC3IP* Psmc3ip   Alliance of Genome Resources
ovarian dysgenesis 4 MCM9* Mcm9   Alliance of Genome Resources
ovarian dysgenesis 5 SOHLH1* Sohlh1   Alliance of Genome Resources
ovarian dysgenesis 6 NUP107* Nup107   Alliance of Genome Resources
ovarian dysgenesis 7 MRPS22* Mrps22   Alliance of Genome Resources
ovarian dysgenesis 8 ESR2* Esr2   Alliance of Genome Resources
overhydrated hereditary stomatocytosis RHAG* Rhag   Alliance of Genome Resources
oxoglutarate dehydrogenase deficiency OGDH* Ogdh   Alliance of Genome Resources
pachyonychia congenita KRT6A*, KRT6B*, KRT6C Gm5414, Gm5478, Krt6a, Krt6b 1 model Alliance of Genome Resources
pachyonychia congenita KRT17* Krt17 1 model Alliance of Genome Resources
Paganini-Miozzo syndrome HS6ST2* Hs6st2   Alliance of Genome Resources
Paget's disease of bone 2 TNFRSF11A* Tnfrsf11a   Alliance of Genome Resources
Paget's disease of bone 3 SQSTM1* Sqstm1   Alliance of Genome Resources
Paget's disease of bone 5 TNFRSF11B* Tnfrsf11b   Alliance of Genome Resources
Paget's disease of bone 6 ZNF687* Zfp687   Alliance of Genome Resources
palmoplantar keratoderma and woolly hair KANK2* Kank2   Alliance of Genome Resources
palmoplantar keratoderma-deafness syndrome GJB2* Gjb2   Alliance of Genome Resources
pancreatic hypoplasia-diabetes-congenital heart disease syndrome GATA6* Gata6   Alliance of Genome Resources
pantothenate kinase-associated neurodegeneration PANK2* Pank2 1 "NOT" model Alliance of Genome Resources
PAPA syndrome PSTPIP1* Pstpip1   Alliance of Genome Resources
Papillon-Lefevre disease CTSC* Ctsc   Alliance of Genome Resources
paraganglioma SDHC* Sdhc 1 "NOT" model Alliance of Genome Resources
paraganglioma SDHAF2* Sdhaf2   Alliance of Genome Resources
paraganglioma SDHA* Sdha   Alliance of Genome Resources
paraganglioma SDHD* Sdhd 3 "NOT" models Alliance of Genome Resources
paraganglioma DLST* Dlst   Alliance of Genome Resources
paraganglioma SLC25A11* Slc25a11   Alliance of Genome Resources
paraganglioma SDHB* Sdhb   Alliance of Genome Resources
paramyotonia congenita of Von Eulenburg SCN4A* Scn4a   Alliance of Genome Resources
parastremmatic dwarfism TRPV4* Trpv4   Alliance of Genome Resources
Parkinson's disease 15 FBXO7* Fbxo7   Alliance of Genome Resources
Parkinson's disease 19A DNAJC6* Dnajc6   Alliance of Genome Resources
Parkinson's disease 20 SYNJ1* Synj1   Alliance of Genome Resources
Parkinson's disease 22 CHCHD2*, CHCHD2P9 Chchd2, Chchd2-ps   Alliance of Genome Resources
Parkinson's disease 23 VPS13C* Vps13c   Alliance of Genome Resources
Parkinson's disease 25 PTPA* Ptpa   Alliance of Genome Resources
paroxysmal extreme pain disorder SCN9A* Scn9a   Alliance of Genome Resources
paroxysmal nonkinesigenic dyskinesia 3 KCNMA1* Kcnma1   Alliance of Genome Resources
partial androgen insensitivity syndrome AR* Ar   Alliance of Genome Resources
Partington syndrome ARX* Arx   Alliance of Genome Resources
peeling skin syndrome 1 CDSN* Cdsn   Alliance of Genome Resources
peeling skin syndrome 2 TGM5* Tgm5   Alliance of Genome Resources
peeling skin syndrome 4 CSTA* Csta1, Csta2, Csta3, Cstdc3, Cstdc4, Cstdc5, Cstdc6, Stfa1, Stfa2, Stfa2l1, Stfa3   Alliance of Genome Resources
peeling skin syndrome 5 SERPINB8* Serpinb8   Alliance of Genome Resources
peeling skin syndrome 6 FLG2* Flg2   Alliance of Genome Resources
pentosuria DCXR* Dcxr   Alliance of Genome Resources
permanent neonatal diabetes mellitus ABCC8* Abcc8   Alliance of Genome Resources
permanent neonatal diabetes mellitus GCK* Gck   Alliance of Genome Resources
peroxisome biogenesis disorder 10A PEX3* Pex3   Alliance of Genome Resources
Peroxisome biogenesis disorder 10B PEX3* Pex3   Alliance of Genome Resources
peroxisome biogenesis disorder 11A PEX13* Pex13   Alliance of Genome Resources
Peroxisome biogenesis disorder 11B PEX13* Pex13   Alliance of Genome Resources
peroxisome biogenesis disorder 12A PEX19* Pex19   Alliance of Genome Resources
peroxisome biogenesis disorder 13A PEX14* Pex14   Alliance of Genome Resources
peroxisome biogenesis disorder 14B PEX11B* Pex11b   Alliance of Genome Resources
peroxisome biogenesis disorder 1A PEX1* Pex1   Alliance of Genome Resources
peroxisome biogenesis disorder 1B PEX1* Pex1   Alliance of Genome Resources
peroxisome biogenesis disorder 2A PEX5* Pex5   Alliance of Genome Resources
peroxisome biogenesis disorder 2B PEX5* Pex5   Alliance of Genome Resources
peroxisome biogenesis disorder 3A PEX12* Pex12   Alliance of Genome Resources
peroxisome biogenesis disorder 3B PEX12* Pex12   Alliance of Genome Resources
peroxisome biogenesis disorder 4A PEX6* Pex6   Alliance of Genome Resources
Peroxisome biogenesis disorder 4B PEX6* Pex6   Alliance of Genome Resources
peroxisome biogenesis disorder 5A PEX2* Pex2   Alliance of Genome Resources
Peroxisome biogenesis disorder 5B PEX2* Pex2   Alliance of Genome Resources
peroxisome biogenesis disorder 6A PEX10* Pex10   Alliance of Genome Resources
Peroxisome biogenesis disorder 6B PEX10* Pex10   Alliance of Genome Resources
peroxisome biogenesis disorder 7A PEX26* Pex26   Alliance of Genome Resources
Peroxisome biogenesis disorder 7B PEX26* Pex26   Alliance of Genome Resources
peroxisome biogenesis disorder 8A PEX16* Pex16   Alliance of Genome Resources
Peroxisome biogenesis disorder 8B PEX16* Pex16   Alliance of Genome Resources
Peroxisome biogenesis disorder 9B PEX7* Pex7   Alliance of Genome Resources
Perrault syndrome HARS2* Hars2   Alliance of Genome Resources
Perrault syndrome HSD17B4* Hsd17b4   Alliance of Genome Resources
Perrault syndrome LARS2* Lars2   Alliance of Genome Resources
Perrault syndrome TWNK* Twnk   Alliance of Genome Resources
Perrault syndrome 6 ERAL1* Eral1   Alliance of Genome Resources
Perry syndrome DCTN1* Dctn1   Alliance of Genome Resources
phosphoglycerate kinase 1 deficiency PGK1* Pgk1   Alliance of Genome Resources
phosphoribosylpyrophosphate synthetase superactivity PRPS1* Prps1   Alliance of Genome Resources
photosensitive trichothiodystrophy 1 ERCC2* Ercc2   Alliance of Genome Resources
photosensitive trichothiodystrophy 2 ERCC3* Ercc3   Alliance of Genome Resources
photosensitive trichothiodystrophy 3 GTF2H5* Gtf2h5   Alliance of Genome Resources
piebaldism SNAI2* Snai2   Alliance of Genome Resources
pigmented paravenous chorioretinal atrophy CRB1* Crb1   Alliance of Genome Resources
Pitt-Hopkins-like syndrome 2 NRXN1* Nrxn1   Alliance of Genome Resources
Pitt-Hopkins syndrome CNTNAP2* Cntnap2   Alliance of Genome Resources
PLACK syndrome CAST* Cast   Alliance of Genome Resources
plasminogen deficiency type I PLG* Plg   Alliance of Genome Resources
platelet-type bleeding disorder 11 GP6* Gp6   Alliance of Genome Resources
platelet-type bleeding disorder 15 ACTN1* Actn1   Alliance of Genome Resources
platelet-type bleeding disorder 17 GFI1B* Gfi1b   Alliance of Genome Resources
platelet-type bleeding disorder 18 RASGRP2* Rasgrp2   Alliance of Genome Resources
platelet-type bleeding disorder 19 PRKACG*  
platelet-type bleeding disorder 20 SLFN14* Slfn14   Alliance of Genome Resources
platelet-type bleeding disorder 3 GP1BA* Gp1ba   Alliance of Genome Resources
poikiloderma with neutropenia USB1* Usb1   Alliance of Genome Resources
polycystic kidney disease 3 GANAB* Ganab   Alliance of Genome Resources
polycystic kidney disease 5 DZIP1L* Dzip1l   Alliance of Genome Resources
polycystic kidney disease 6 DNAJB11* Dnajb11   Alliance of Genome Resources
polycystic kidney disease 7 ALG5* Alg5   Alliance of Genome Resources
polycystic liver disease GANAB* Ganab   Alliance of Genome Resources
polycystic liver disease 1 LRP5*, LRP5L Lrp5   Alliance of Genome Resources
polycystic liver disease 1 PRKCSH* Prkcsh   Alliance of Genome Resources
polycystic liver disease 2 SEC63* Sec63   Alliance of Genome Resources
polycystic liver disease 3 ALG8* Alg8   Alliance of Genome Resources
polycystic liver disease 4 LRP5*, LRP5L Lrp5   Alliance of Genome Resources
polyhydramnios, megalencephaly, and symptomatic epilepsy STRADA* Strada   Alliance of Genome Resources
pontocerebellar hypoplasia type 11 TBC1D23* Tbc1d23   Alliance of Genome Resources
pontocerebellar hypoplasia type 12 COASY* Coasy   Alliance of Genome Resources
pontocerebellar hypoplasia type 13 VPS51* Vps51   Alliance of Genome Resources
pontocerebellar hypoplasia type 15 CDC40* Cdc40   Alliance of Genome Resources
pontocerebellar hypoplasia type 16 MINPP1* Minpp1   Alliance of Genome Resources
pontocerebellar hypoplasia type 1A VRK1* Vrk1   Alliance of Genome Resources
pontocerebellar hypoplasia type 1B EXOSC3* Exosc3   Alliance of Genome Resources
pontocerebellar hypoplasia type 1C EXOSC8* Exosc8   Alliance of Genome Resources
pontocerebellar hypoplasia type 1D EXOSC9* Exosc9   Alliance of Genome Resources
pontocerebellar hypoplasia type 1E SLC25A46* Slc25a46   Alliance of Genome Resources
pontocerebellar hypoplasia type 1F EXOSC1* Exosc1   Alliance of Genome Resources
pontocerebellar hypoplasia type 2A TSEN54* Tsen54   Alliance of Genome Resources
pontocerebellar hypoplasia type 2B TSEN2* Tsen2   Alliance of Genome Resources
pontocerebellar hypoplasia type 2C TSEN34* Tsen34   Alliance of Genome Resources
pontocerebellar hypoplasia type 2D SEPSECS* Sepsecs   Alliance of Genome Resources
pontocerebellar hypoplasia type 2E VPS53* Vps53   Alliance of Genome Resources
pontocerebellar hypoplasia type 2F TSEN15* Tsen15   Alliance of Genome Resources
poor metabolism of thiopurines NUDT15* Nudt15   Alliance of Genome Resources
postaxial acrofacial dysostosis DHODH* Dhodh   Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1 OVOL2* Ovol2   Alliance of Genome Resources
posterior polymorphous corneal dystrophy 1 VSX1* Vsx1   Alliance of Genome Resources
posterior polymorphous corneal dystrophy 2 COL8A2* Col8a2   Alliance of Genome Resources
posterior polymorphous corneal dystrophy 3 ZEB1* Zeb1   Alliance of Genome Resources
posterior polymorphous corneal dystrophy 4 GRHL2* Grhl2   Alliance of Genome Resources
Prieto syndrome WNK3* Wnk3   Alliance of Genome Resources
primary autosomal dominant microcephaly 18 WDFY3* Wdfy3   Alliance of Genome Resources
primary autosomal recessive microcephaly NUP37* Nup37   Alliance of Genome Resources
primary autosomal recessive microcephaly WDR62* Wdr62   Alliance of Genome Resources
primary autosomal recessive microcephaly TRAPPC14* Trappc14   Alliance of Genome Resources
primary autosomal recessive microcephaly RRP7A*, RRP7BP Rrp7a   Alliance of Genome Resources
primary autosomal recessive microcephaly PDCD6IP* Pdcd6ip   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPH* Ncaph   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD3* Ncapd3   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD2* Ncapd2   Alliance of Genome Resources
primary autosomal recessive microcephaly MCPH1* Mcph1   Alliance of Genome Resources
primary autosomal recessive microcephaly LMNB2* Lmnb2   Alliance of Genome Resources
primary autosomal recessive microcephaly LMNB1* Lmnb1   Alliance of Genome Resources
primary autosomal recessive microcephaly KNL1* Knl1   Alliance of Genome Resources
primary autosomal recessive microcephaly KIF14* Kif14   Alliance of Genome Resources
primary autosomal recessive microcephaly CPAP* Cpap   Alliance of Genome Resources
primary autosomal recessive microcephaly BUB1* Bub1   Alliance of Genome Resources
primary autosomal recessive microcephaly ASPM* Aspm   Alliance of Genome Resources
primary autosomal recessive microcephaly 1 MCPH1* Mcph1   Alliance of Genome Resources
primary autosomal recessive microcephaly 10 ZNF335* Zfp335   Alliance of Genome Resources
primary autosomal recessive microcephaly 11 PHC1* Phc1   Alliance of Genome Resources
primary autosomal recessive microcephaly 12 CDK6* Cdk6   Alliance of Genome Resources
primary autosomal recessive microcephaly 13 CENPE* Cenpe   Alliance of Genome Resources
primary autosomal recessive microcephaly 14 SASS6* Sass6   Alliance of Genome Resources
primary autosomal recessive microcephaly 15 MFSD2A* Mfsd2a   Alliance of Genome Resources
primary autosomal recessive microcephaly 16 ANKLE2* Ankle2   Alliance of Genome Resources
primary autosomal recessive microcephaly 17 CIT* Cit   Alliance of Genome Resources
primary autosomal recessive microcephaly 19 COPB2* Copb2   Alliance of Genome Resources
primary autosomal recessive microcephaly 3 CDK5RAP2* Cdk5rap2   Alliance of Genome Resources
primary autosomal recessive microcephaly 4 KNL1* Knl1   Alliance of Genome Resources
primary autosomal recessive microcephaly 5 ASPM* Aspm   Alliance of Genome Resources
primary autosomal recessive microcephaly 6 CPAP* Cpap   Alliance of Genome Resources
primary autosomal recessive microcephaly 7 STIL* Stil   Alliance of Genome Resources
primary autosomal recessive microcephaly 8 CEP135* Cep135   Alliance of Genome Resources
primary autosomal recessive microcephaly 9 CEP152* Cep152   Alliance of Genome Resources
primary ciliary dyskinesia TP73* Trp73   Alliance of Genome Resources
primary ciliary dyskinesia STK36* Stk36   Alliance of Genome Resources
primary ciliary dyskinesia NME5* Nme5   Alliance of Genome Resources
primary ciliary dyskinesia DNAH7* Dnah7a, Dnah7b, Dnah7c   Alliance of Genome Resources
primary ciliary dyskinesia CLXN* Clxn   Alliance of Genome Resources
primary ciliary dyskinesia BRWD1* Brwd1   Alliance of Genome Resources
primary ciliary dyskinesia CFAP74* Cfap74   Alliance of Genome Resources
primary ciliary dyskinesia 11 RSPH4A* Rsph4a   Alliance of Genome Resources
primary ciliary dyskinesia 12 RSPH9* Rsph9   Alliance of Genome Resources
primary ciliary dyskinesia 13 DNAAF1* Dnaaf1   Alliance of Genome Resources
primary ciliary dyskinesia 15 CCDC40* Ccdc40   Alliance of Genome Resources
primary ciliary dyskinesia 16 DNAL1* Dnal1   Alliance of Genome Resources
primary ciliary dyskinesia 17 DNAAF19* Ccdc103   Alliance of Genome Resources
primary ciliary dyskinesia 18 DNAAF5* Dnaaf5   Alliance of Genome Resources
primary ciliary dyskinesia 20 ODAD1* Odad1   Alliance of Genome Resources
primary ciliary dyskinesia 24 RSPH1* Rsph1   Alliance of Genome Resources
primary ciliary dyskinesia 26 CFAP298* Cfap298   Alliance of Genome Resources
primary ciliary dyskinesia 27 CCDC65* Ccdc65   Alliance of Genome Resources
primary ciliary dyskinesia 28 SPAG1* Spag1   Alliance of Genome Resources
primary ciliary dyskinesia 29 CCNO* Ccno   Alliance of Genome Resources
primary ciliary dyskinesia 32 RSPH3* Rsph3a, Rsph3b   Alliance of Genome Resources
primary ciliary dyskinesia 34 DNAJB13* Dnajb13   Alliance of Genome Resources
primary ciliary dyskinesia 36 DNAAF6* Dnaaf6, Dnaaf6rt   Alliance of Genome Resources
primary ciliary dyskinesia 37 DNAH1* Dnah1   Alliance of Genome Resources
primary ciliary dyskinesia 38 CFAP300* Cfap300   Alliance of Genome Resources
primary ciliary dyskinesia 39 LRRC56* Lrrc56   Alliance of Genome Resources
primary ciliary dyskinesia 40 DNAH9* Dnah9   Alliance of Genome Resources
primary ciliary dyskinesia 41 GAS2L2* Gas2l2   Alliance of Genome Resources
primary ciliary dyskinesia 42 MCIDAS* Mcidas   Alliance of Genome Resources
primary ciliary dyskinesia 43 FOXJ1* Foxj1   Alliance of Genome Resources
primary ciliary dyskinesia 44 NEK10* Nek10   Alliance of Genome Resources
primary ciliary dyskinesia 45 TTC12* Ttc12   Alliance of Genome Resources
primary ciliary dyskinesia 5 HYDIN* Hydin   Alliance of Genome Resources
primary ciliary dyskinesia 6 NME8* Nme8   Alliance of Genome Resources
primary ciliary dyskinesia 9 DNAI2* Dnai2   Alliance of Genome Resources
primary coenzyme Q10 deficiency 9 COQ5* Coq5   Alliance of Genome Resources
primary failure of tooth eruption PTH1R* Pth1r   Alliance of Genome Resources
primary ovarian insufficiency 1 FMR1* Fmr1   Alliance of Genome Resources
primary ovarian insufficiency 10 MCM8* Mcm8   Alliance of Genome Resources
primary ovarian insufficiency 11 ERCC6* Ercc6   Alliance of Genome Resources
primary ovarian insufficiency 14 GDF9* Gdf9   Alliance of Genome Resources
primary ovarian insufficiency 15 FANCM* Fancm   Alliance of Genome Resources
primary ovarian insufficiency 16 BNC1* Bnc1   Alliance of Genome Resources
primary ovarian insufficiency 18 C14orf39* 4930447C04Rik   Alliance of Genome Resources
primary ovarian insufficiency 2A DIAPH2* Diaph2   Alliance of Genome Resources
primary ovarian insufficiency 2B POF1B* Pof1b   Alliance of Genome Resources
primary ovarian insufficiency 3 FOXL2* Foxl2   Alliance of Genome Resources
primary ovarian insufficiency 5 NOBOX* Nobox   Alliance of Genome Resources
primary ovarian insufficiency 6 FIGLA* Figla   Alliance of Genome Resources
primary ovarian insufficiency 7 NR5A1* Nr5a1   Alliance of Genome Resources
primary ovarian insufficiency 8 STAG3* Stag3   Alliance of Genome Resources
primary ovarian insufficiency 9 HFM1* Hfm1   Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 1 PRKAR1A* Prkar1a   Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 2 PDE11A* Pde11a   Alliance of Genome Resources
primary pigmented nodular adrenocortical disease 4 PRKACA* Prkaca   Alliance of Genome Resources
progeria GH1*, CSH1, CSH2, CSHL1, GH2 Gh   Alliance of Genome Resources
progressive familial heart block type IB TRPM4* Trpm4   Alliance of Genome Resources
progressive familial intrahepatic cholestasis 1 ATP8B1* Atp8b1   Alliance of Genome Resources
progressive familial intrahepatic cholestasis 2 ABCB11* Abcb11   Alliance of Genome Resources
progressive familial intrahepatic cholestasis 3 ABCB4* Abcb4   Alliance of Genome Resources
progressive familial intrahepatic cholestasis 4 TJP2* Tjp2 1 model Alliance of Genome Resources
progressive familial intrahepatic cholestasis 5 NR1H4* Nr1h4   Alliance of Genome Resources
progressive leukoencephalopathy with ovarian failure AARS2* Aars2   Alliance of Genome Resources
progressive myoclonus epilepsy 10 PRDM8* Prdm8   Alliance of Genome Resources
progressive myoclonus epilepsy 1A CSTB* Cstb   Alliance of Genome Resources
progressive myoclonus epilepsy 3 KCTD7* Kctd7   Alliance of Genome Resources
progressive myoclonus epilepsy 4 SCARB2* Scarb2   Alliance of Genome Resources
progressive myoclonus epilepsy 6 GOSR2* Gosr2   Alliance of Genome Resources
progressive myoclonus epilepsy 7 KCNC1* Kcnc1   Alliance of Genome Resources
progressive myoclonus epilepsy 8 CERS1* Cers1   Alliance of Genome Resources
progressive myoclonus epilepsy 9 LMNB2* Lmnb2   Alliance of Genome Resources
progressive osseous heteroplasia GNAS* Gnas   Alliance of Genome Resources
prolidase deficiency PEPD* Pepd   Alliance of Genome Resources
proprotein convertase 1/3 deficiency PCSK1* Pcsk1   Alliance of Genome Resources
proteasome-associated autoinflammatory syndrome 1 PSMB8* Psmb8   Alliance of Genome Resources
proteasome-associated autoinflammatory syndrome 3 PSMB4* Psmb4   Alliance of Genome Resources
protein C deficiency PROC* Proc   Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 2 POMP* Pomp   Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 4 PSMG2* Psmg2   Alliance of Genome Resources
proteosome-associated autoinflammatory syndrome 5 PSMB10* Psmb10   Alliance of Genome Resources
prothrombin deficiency F2* F2   Alliance of Genome Resources
proximal symphalangism NOG* Nog   Alliance of Genome Resources
proximal symphalangism 1 NOG* Nog   Alliance of Genome Resources
proximal symphalangism 2 GDF5* Gdf5   Alliance of Genome Resources
prune belly syndrome CHRM3* Chrm3   Alliance of Genome Resources
pseudo-TORCH syndrome 1 OCLN* Ocln   Alliance of Genome Resources
pseudoxanthoma elasticum XYLT2* Xylt2   Alliance of Genome Resources
pseudoxanthoma elasticum SOD2* Sod2   Alliance of Genome Resources
pseudoxanthoma elasticum VEGFA* Vegfa   Alliance of Genome Resources
pseudoxanthoma elasticum MMP2* Mmp2   Alliance of Genome Resources
pseudoxanthoma elasticum GPX1* Gpx1   Alliance of Genome Resources
pseudoxanthoma elasticum ELN* Eln   Alliance of Genome Resources
pseudoxanthoma elasticum CAT* Cat   Alliance of Genome Resources
pseudoxanthoma elasticum XYLT1* Xylt1   Alliance of Genome Resources
pulmonary venoocclusive disease 1 BMPR2* Bmpr2   Alliance of Genome Resources
pulmonary venoocclusive disease 2 EIF2AK4* Eif2ak4   Alliance of Genome Resources
pycnodysostosis CTSK* Ctsk   Alliance of Genome Resources
Rafiq syndrome MAN1B1* Man1b1   Alliance of Genome Resources
rapadilino syndrome RECQL4* Recql4   Alliance of Genome Resources
Rapp-Hodgkin syndrome TP63* Trp63   Alliance of Genome Resources
Raynaud-Claes syndrome CLCN4* Clcn4   Alliance of Genome Resources
reducing body myopathy 1A FHL1* Fhl1   Alliance of Genome Resources
reducing body myopathy 1B FHL1* Fhl1   Alliance of Genome Resources
renal hypomagnesemia 7, with or without dilated cardiomyopathy RRAGD* Rragd   Alliance of Genome Resources
restrictive dermopathy 1 ZMPSTE24* Zmpste24   Alliance of Genome Resources
reticular dysgenesis AK2* Ak2   Alliance of Genome Resources
retinal arterial tortuosity COL4A1* Col4a1   Alliance of Genome Resources
retinal cone dystrophy 3B KCNV2* Kcnv2   Alliance of Genome Resources
retinal dystrophy with leukodystrophy ACBD5* Acbd5   Alliance of Genome Resources
retinal macular dystrophy 2 PROM1* Prom1   Alliance of Genome Resources
retinal macular dystrophy 4 CLEC3B* Clec3b   Alliance of Genome Resources
retinal vasculopathy with cerebral leukodystrophy TREX1* Trex1   Alliance of Genome Resources
retinitis pigmentosa 10 IMPDH1* Impdh1   Alliance of Genome Resources
retinitis pigmentosa 23 OFD1* Ofd1   Alliance of Genome Resources
retinitis pigmentosa 25 EYS*  
retinitis pigmentosa 27 NRL* Nrl   Alliance of Genome Resources
retinitis pigmentosa 33 SNRNP200* Snrnp200   Alliance of Genome Resources
retinitis pigmentosa 35 SEMA4A* Sema4a   Alliance of Genome Resources
retinitis pigmentosa 37 NR2E3* Nr2e3   Alliance of Genome Resources
retinitis pigmentosa 38 MERTK* Mertk   Alliance of Genome Resources
retinitis pigmentosa 42 KLHL7* Klhl7   Alliance of Genome Resources
retinitis pigmentosa 45 CNGB1* Cngb1   Alliance of Genome Resources
retinitis pigmentosa 50 BEST1* Best1   Alliance of Genome Resources
retinitis pigmentosa 57 PDE6G* Pde6g   Alliance of Genome Resources
retinitis pigmentosa 60 PRPF6* Prpf6   Alliance of Genome Resources
retinitis pigmentosa 62 MAK* Mak   Alliance of Genome Resources
retinitis pigmentosa 68 SLC7A14* Slc7a14   Alliance of Genome Resources
retinitis pigmentosa 69 KIZ* Kiz   Alliance of Genome Resources
retinitis pigmentosa 7 ROM1* Rom1   Alliance of Genome Resources
retinitis pigmentosa 70 PRPF4* Prpf4   Alliance of Genome Resources
retinitis pigmentosa 71 IFT172* Ift172   Alliance of Genome Resources
retinitis pigmentosa 72 ZNF408* Zfp408   Alliance of Genome Resources
retinitis pigmentosa 73 HGSNAT* Hgsnat   Alliance of Genome Resources
retinitis pigmentosa 74 BBS2* Bbs2   Alliance of Genome Resources
retinitis pigmentosa 75 AGBL5* Agbl5   Alliance of Genome Resources
retinitis pigmentosa 81 IFT43* Ift43   Alliance of Genome Resources
retinitis pigmentosa 83 ARL3* Arl3   Alliance of Genome Resources
retinitis pigmentosa 84 DHX38* Dhx38   Alliance of Genome Resources
retinitis pigmentosa 85 AHR* Ahr   Alliance of Genome Resources
retinitis pigmentosa 86 KIAA1549* D630045J12Rik   Alliance of Genome Resources
retinitis pigmentosa 87 RPE65* Rpe65   Alliance of Genome Resources
retinitis pigmentosa 88 RP1L1* Rp1l1   Alliance of Genome Resources
retinitis pigmentosa 89 KIF3B* Kif3b   Alliance of Genome Resources
retinitis pigmentosa 9 RP9* Rp9   Alliance of Genome Resources
retinitis pigmentosa 90 IDH3A* Idh3a   Alliance of Genome Resources
Revesz syndrome TINF2* Tinf2   Alliance of Genome Resources
rhizomelic chondrodysplasia punctata AGPS* Agps   Alliance of Genome Resources
rhizomelic chondrodysplasia punctata type 5 PEX5* Pex5   Alliance of Genome Resources
rhizomelic chondrodysplasia punctate type 4 FAR1* Far1   Alliance of Genome Resources
ring dermoid of cornea PITX2* Pitx2   Alliance of Genome Resources
Ritscher-Schinzel syndrome VPS35L* Vps35l   Alliance of Genome Resources
Ritscher-Schinzel syndrome DPYSL5* Dpysl5   Alliance of Genome Resources
Ritscher-Schinzel syndrome 1 WASHC5* Washc5   Alliance of Genome Resources
Ritscher-Schinzel syndrome 2 CCDC22* Ccdc22   Alliance of Genome Resources
RNASET2-deficient cystic leukoencephalopathy RNASET2* Rnaset2a, Rnaset2b   Alliance of Genome Resources
Roberts syndrome ESCO2* Esco2   Alliance of Genome Resources
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome TBC1D24* Tbc1d24   Alliance of Genome Resources
Rubinstein-Taybi syndrome EP300* Ep300   Alliance of Genome Resources
Ruijs-Aalfs syndrome SPRTN* Sprtn   Alliance of Genome Resources
SADDAN FGFR3* Fgfr3   Alliance of Genome Resources
Saethre-Chotzen syndrome FGFR2* Fgfr2   Alliance of Genome Resources
salt and pepper syndrome ST3GAL5* St3gal5   Alliance of Genome Resources
Sandestig-Stefanova syndrome NUP188* Nup188   Alliance of Genome Resources
sarcosinemia SARDH* Sardh   Alliance of Genome Resources
Saul-Wilson syndrome COG4* Cog4   Alliance of Genome Resources
scapuloperoneal spinal muscular atrophy TRPV4* Trpv4   Alliance of Genome Resources
Schindler disease type 1 NAGA* Naga   Alliance of Genome Resources
Schinzel Giedion syndrome SETBP1* Setbp1   Alliance of Genome Resources
Schinzel type phocomelia WNT7A* Wnt7a   Alliance of Genome Resources
schizophrenia 15 SHANK3* Shank3   Alliance of Genome Resources
schizophrenia 18 SLC1A1* Slc1a1   Alliance of Genome Resources
schizophrenia 4 PRODH* Prodh   Alliance of Genome Resources
schizophrenia 6 NRG1* Nrg1   Alliance of Genome Resources
schizophrenia 9 DISC1* Disc1   Alliance of Genome Resources
Schopf-Schulz-Passarge syndrome WNT10A* Wnt10a   Alliance of Genome Resources
Schuurs-Hoeijmakers Syndrome PACS1* Pacs1   Alliance of Genome Resources
schwannomatosis SMARCB1* Smarcb1   Alliance of Genome Resources
schwannomatosis LZTR1* Lztr1   Alliance of Genome Resources
schwannomatosis 1 SMARCB1* Smarcb1   Alliance of Genome Resources
schwannomatosis 2 LZTR1* Lztr1   Alliance of Genome Resources
Seckel syndrome CDK5RAP2* Cdk5rap2   Alliance of Genome Resources
Seckel syndrome 1 ATR* Atr   Alliance of Genome Resources
Seckel syndrome 10 NSMCE2* Nsmce2   Alliance of Genome Resources
Seckel syndrome 2 RBBP8* Rbbp8   Alliance of Genome Resources
Seckel syndrome 4 CPAP* Cpap   Alliance of Genome Resources
Seckel syndrome 5 CEP152* Cep152   Alliance of Genome Resources
Seckel syndrome 6 CEP63* Cep63   Alliance of Genome Resources
Seckel syndrome 7 NIN* Nin   Alliance of Genome Resources
Seckel syndrome 8 DNA2* Dna2   Alliance of Genome Resources
Seckel syndrome 9 TRAIP* Traip   Alliance of Genome Resources
selective pituitary thyroid hormone resistance THRB* Thrb   Alliance of Genome Resources
Sengers syndrome AGK* Agk   Alliance of Genome Resources
senile cataract NAT2*, NAT1 Nat1, Nat2, Nat3   Alliance of Genome Resources
senile cataract ATM* Atm   Alliance of Genome Resources
senile cataract GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
senile cataract CAT* Cat   Alliance of Genome Resources
senile cataract ERCC2* Ercc2   Alliance of Genome Resources
senile cataract GSTP1* Gstp1, Gstp2, Gstp3, Gstp-ps   Alliance of Genome Resources
senile cataract XRCC1* Xrcc1   Alliance of Genome Resources
senile cataract GSTT1* Gstt1   Alliance of Genome Resources
senile cataract HSPA1B*, HSPA1A Hspa1a, Hspa1b   Alliance of Genome Resources
senile cataract WRN* Wrn   Alliance of Genome Resources
senile cataract OGG1* Ogg1   Alliance of Genome Resources
Senior-Loken syndrome NPHP4* Nphp4   Alliance of Genome Resources
Senior-Loken syndrome CEP290* Cep290   Alliance of Genome Resources
Senior-Loken syndrome IQCB1* Iqcb1   Alliance of Genome Resources
Senior-Loken syndrome NPHP1* Nphp1   Alliance of Genome Resources
Senior-Loken syndrome SDCCAG8* Sdccag8   Alliance of Genome Resources
Senior-Loken syndrome TRAF3IP1* Traf3ip1   Alliance of Genome Resources
Senior-Loken syndrome WDR19* Wdr19   Alliance of Genome Resources
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG* Polg   Alliance of Genome Resources
sepiapterin reductase deficiency SPR* Spr   Alliance of Genome Resources
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive RAG1* Rag1   Alliance of Genome Resources
severe congenital encephalopathy due to MECP2 mutation MECP2* Mecp2   Alliance of Genome Resources
severe congenital neutropenia 1 ELANE* Elane   Alliance of Genome Resources
severe congenital neutropenia 2 GFI1* Gfi1   Alliance of Genome Resources
severe congenital neutropenia 3 HAX1* Hax1   Alliance of Genome Resources
severe congenital neutropenia 4 G6PC3* G6pc3   Alliance of Genome Resources
severe congenital neutropenia 5 VPS45* Vps45   Alliance of Genome Resources
severe congenital neutropenia 6 JAGN1* Jagn1   Alliance of Genome Resources
severe congenital neutropenia 7 CSF3R* Csf3r   Alliance of Genome Resources
severe congenital neutropenia 8 SRP54* Srp54a, Srp54b, Srp54c   Alliance of Genome Resources
short-rib thoracic dysplasia 10 with or without polydactyly IFT172* Ift172   Alliance of Genome Resources
short-rib thoracic dysplasia 11 with or without polydactyly DYNC2I2* Dync2i2   Alliance of Genome Resources
short-rib thoracic dysplasia 13 with or without polydactyly CEP120* Cep120   Alliance of Genome Resources
short-rib thoracic dysplasia 14 with polydactyly KIAA0586* 2700049A03Rik   Alliance of Genome Resources
short-rib thoracic dysplasia 18 with polydactyly IFT43* Ift43   Alliance of Genome Resources
short-rib thoracic dysplasia 19 with or without polydactyly IFT81* Ift81   Alliance of Genome Resources
short-rib thoracic dysplasia 6 with or without polydactyly NEK1* Nek1   Alliance of Genome Resources
short-rib thoracic dysplasia 8 with or without polydactyly DYNC2I1* Dync2i1   Alliance of Genome Resources
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 SCUBE3* Scube3   Alliance of Genome Resources
short stature, hearing loss, retinitis pigmentosa, and distinctive facies EXOSC2* Exosc2   Alliance of Genome Resources
SHOX-related short stature SHOX*  
Shukla-Vernon syndrome BCORL1* Bcorl1   Alliance of Genome Resources
sickle cell anemia HBE1*, HBG2*, HBG1 Hbb-bh0, Hbb-bh1, Hbb-y   Alliance of Genome Resources
sickle cell anemia ALAD* Alad   Alliance of Genome Resources
sickle cell anemia GCH1* Gch1   Alliance of Genome Resources
sickle cell anemia APOB* Apob   Alliance of Genome Resources
sickle cell anemia CYP2C19*, CYP2C8, CYP2C9, CYP2C18 Cyp2c29, Cyp2c37, Cyp2c38, Cyp2c39, Cyp2c50, Cyp2c55, Cyp2c65, Cyp2c66   Alliance of Genome Resources
sickle cell anemia CFB* Cfb   Alliance of Genome Resources
sickle cell anemia C3* C3   Alliance of Genome Resources
sickle cell anemia NOS3* Nos3   Alliance of Genome Resources
sickle cell anemia MTHFR* Mthfr   Alliance of Genome Resources
sickle cell anemia HMBS* Hmbs   Alliance of Genome Resources
sickle cell anemia BCL11A* Bcl11a   Alliance of Genome Resources
sickle cell anemia HBB*, HBD Hbb-b1, Hbb-b2, Hbb-bh2, Hbb-bs, Hbb-bt 7 models Alliance of Genome Resources
sickle cell anemia HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
sickle cell anemia GSTT1* Gstt1   Alliance of Genome Resources
sickle cell anemia GPX1* Gpx1   Alliance of Genome Resources
sideroblastic anemia 1 ALAS2* Alas2   Alliance of Genome Resources
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay TRNT1* Trnt1   Alliance of Genome Resources
Sifrim-Hitz-Weiss syndrome CHD4* Chd4   Alliance of Genome Resources
Simpson-Golabi-Behmel syndrome type 2 OFD1* Ofd1   Alliance of Genome Resources
sitosterolemia 1 ABCG5* Abcg5   Alliance of Genome Resources
sitosterolemia 2 ABCG5* Abcg5   Alliance of Genome Resources
Sjogren-Larsson syndrome ALDH3A2* Aldh3a2 1 model Alliance of Genome Resources
Smith-McCort dysplasia 1 DYM* Dym   Alliance of Genome Resources
snowflake vitreoretinal degeneration KCNJ13* Kcnj13   Alliance of Genome Resources
solitary median maxillary central incisor SHH* Shh   Alliance of Genome Resources
Sotos syndrome NSD1* Nsd1 1 model Alliance of Genome Resources
Sotos syndrome 1 NSD1* Nsd1   Alliance of Genome Resources
Sotos syndrome 3 APC2* Apc2   Alliance of Genome Resources
spastic ataxia 1 VAMP1* Vamp1   Alliance of Genome Resources
spastic ataxia 2 KIF1C* Kif1c   Alliance of Genome Resources
spastic ataxia 3 MARS2* Mars2   Alliance of Genome Resources
spastic ataxia 4 MTPAP* Mtpap   Alliance of Genome Resources
spastic ataxia 5 AFG3L2* Afg3l2   Alliance of Genome Resources
spastic ataxia 8 NKX6-2* Nkx6-2   Alliance of Genome Resources
spastic quadriplegic cerebral palsy 3 ADD3* Add3   Alliance of Genome Resources
speech-language disorder-1 FOXP2* Foxp2   Alliance of Genome Resources
spermatogenic failure 10 SEPTIN12* Septin12   Alliance of Genome Resources
spermatogenic failure 11 KLHL10* Klhl10   Alliance of Genome Resources
spermatogenic failure 12 NANOS1* Nanos1   Alliance of Genome Resources
spermatogenic failure 13 TAF4B* Taf4b   Alliance of Genome Resources
spermatogenic failure 14 ZMYND15* Zmynd15   Alliance of Genome Resources
spermatogenic failure 15 SYCE1* Syce1   Alliance of Genome Resources
spermatogenic failure 16 SUN5* Sun5   Alliance of Genome Resources
spermatogenic failure 17 PLCZ1* Plcz1   Alliance of Genome Resources
spermatogenic failure 18 DNAH1* Dnah1   Alliance of Genome Resources
spermatogenic failure 2 MSH4* Msh4   Alliance of Genome Resources
spermatogenic failure 21 BRDT* Brdt   Alliance of Genome Resources
spermatogenic failure 22 MEIOB* Meiob   Alliance of Genome Resources
spermatogenic failure 23 TEX14* Tex14   Alliance of Genome Resources
spermatogenic failure 25 TEX15* Tex15   Alliance of Genome Resources
spermatogenic failure 26 TSGA10* Tsga10   Alliance of Genome Resources
spermatogenic failure 27 AK7* Ak7   Alliance of Genome Resources
spermatogenic failure 28 FANCM* Fancm   Alliance of Genome Resources
spermatogenic failure 29 SPINK2* Spink2   Alliance of Genome Resources
spermatogenic failure 3 SRSF6* Srsf6   Alliance of Genome Resources
spermatogenic failure 3 SLC26A8* Slc26a8   Alliance of Genome Resources
spermatogenic failure 30 TDRD9* Tdrd9   Alliance of Genome Resources
spermatogenic failure 32 SOHLH1* Sohlh1   Alliance of Genome Resources
spermatogenic failure 33 CFAP251* Cfap251   Alliance of Genome Resources
spermatogenic failure 34 FSIP2* Fsip2   Alliance of Genome Resources
spermatogenic failure 35 QRICH2* Qrich2   Alliance of Genome Resources
spermatogenic failure 36 PPP2R3C* Ppp2r3c   Alliance of Genome Resources
spermatogenic failure 37 TTC21A* Ttc21a   Alliance of Genome Resources
spermatogenic failure 38 ARMC2* Armc2   Alliance of Genome Resources
spermatogenic failure 4 SYCP3* Gm773, Sycp3   Alliance of Genome Resources
spermatogenic failure 41 CFAP70* Cfap70   Alliance of Genome Resources
spermatogenic failure 42 TTC29* Ttc29   Alliance of Genome Resources
spermatogenic failure 43 SPEF2* Spef2   Alliance of Genome Resources
spermatogenic failure 44 CEP112* Cep112   Alliance of Genome Resources
spermatogenic failure 45 DNAH2* Dnah2   Alliance of Genome Resources
spermatogenic failure 48 M1AP* M1ap   Alliance of Genome Resources
spermatogenic failure 49 CFAP58* Cfap58   Alliance of Genome Resources
spermatogenic failure 5 AURKC* Aurkc   Alliance of Genome Resources
spermatogenic failure 50 XRCC2* Xrcc2   Alliance of Genome Resources
spermatogenic failure 51 CFAP91* Cfap91   Alliance of Genome Resources
spermatogenic failure 52 C14orf39* 4930447C04Rik   Alliance of Genome Resources
spermatogenic failure 53 ACTL9* Actl9   Alliance of Genome Resources
spermatogenic failure 54 CATIP* Catip   Alliance of Genome Resources
spermatogenic failure 55 SPAG17* Spag17   Alliance of Genome Resources
spermatogenic failure 56 DNAH10* Dnah10   Alliance of Genome Resources
spermatogenic failure 57 PNLDC1* Pnldc1   Alliance of Genome Resources
spermatogenic failure 58 IFT74* Ift74   Alliance of Genome Resources
spermatogenic failure 59 TERB2* Terb2   Alliance of Genome Resources
spermatogenic failure 6 SPATA16* Spata16   Alliance of Genome Resources
spermatogenic failure 60 TERB1* Terb1   Alliance of Genome Resources
spermatogenic failure 61 STAG3* Stag3   Alliance of Genome Resources
spermatogenic failure 62 RNF212* Rnf212   Alliance of Genome Resources
spermatogenic failure 63 RPL10L* Rpl10l   Alliance of Genome Resources
spermatogenic failure 64 FBXO43* Fbxo43   Alliance of Genome Resources
spermatogenic failure 65 DNHD1* Dnhd1   Alliance of Genome Resources
spermatogenic failure 66 ZPBP* Zpbp   Alliance of Genome Resources
spermatogenic failure 67 CCDC62* Ccdc62   Alliance of Genome Resources
spermatogenic failure 68 C2CD6* C2cd6   Alliance of Genome Resources
spermatogenic failure 69 GGN* Ggn   Alliance of Genome Resources
spermatogenic failure 7 CATSPER1* Catsper1   Alliance of Genome Resources
spermatogenic failure 70 PDHA2* Pdha2   Alliance of Genome Resources
spermatogenic failure 71 ZSWIM7* Zswim7   Alliance of Genome Resources
spermatogenic failure 72 WDR19* Wdr19   Alliance of Genome Resources
spermatogenic failure 73 MOV10L1* Mov10l1   Alliance of Genome Resources
spermatogenic failure 74 MSH5* Msh5   Alliance of Genome Resources
spermatogenic failure 75 SHOC1* Shoc1   Alliance of Genome Resources
spermatogenic failure 76 CCDC34* Ccdc34   Alliance of Genome Resources
spermatogenic failure 77 FKBP6* Fkbp6   Alliance of Genome Resources
spermatogenic failure 78 IQCN* Iqcn   Alliance of Genome Resources
spermatogenic failure 79 KCNU1* Kcnu1   Alliance of Genome Resources
spermatogenic failure 8 NR5A1* Nr5a1   Alliance of Genome Resources
spermatogenic failure 80 DRC1* Drc1   Alliance of Genome Resources
spermatogenic failure 81 TEKT3* Tekt3   Alliance of Genome Resources
spermatogenic failure 82 AKAP3* Akap3   Alliance of Genome Resources
spermatogenic failure 83 DNALI1* Dnali1   Alliance of Genome Resources
spermatogenic failure 84 CFAP61* Cfap61   Alliance of Genome Resources
spermatogenic failure 85 SPACA1* Spaca1   Alliance of Genome Resources
spermatogenic failure 86 ACTL7A* Actl7a   Alliance of Genome Resources
spermatogenic failure 87 ACR* Acr   Alliance of Genome Resources
spermatogenic failure 88 KASH5* Kash5   Alliance of Genome Resources
spermatogenic failure 89 AK9* Ak9   Alliance of Genome Resources
spermatogenic failure 9 DPY19L2*, DPY19L2P1, DPY19L2P2 Dpy19l2   Alliance of Genome Resources
spermatogenic failure 90 ARMC12* Armc12   Alliance of Genome Resources
spermatogenic failure 91 CCIN* Ccin   Alliance of Genome Resources
spermatogenic failure 92 LRRC23* Lrrc23   Alliance of Genome Resources
spermatogenic failure 93 STK33* Stk33   Alliance of Genome Resources
spermatogenic failure 94 CCDC146* Ccdc146   Alliance of Genome Resources
spermatogenic failure 95 CFAP57* Cfap57   Alliance of Genome Resources
spinal muscular atrophy, Jokela type CHCHD10* Chchd10   Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 1 DYNC1H1* Dync1h1   Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2A BICD2* Bicd2   Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B ND6* mt-Nd6   Alliance of Genome Resources
spinal muscular atrophy with lower extremity predominant 2B BICD2* Bicd2   Alliance of Genome Resources
spinal muscular atrophy with progressive myoclonic epilepsy ASAH1* Asah1   Alliance of Genome Resources
spinal neurofibromatosis NF1* Nf1   Alliance of Genome Resources
spinocerebellar ataxia 44 GRM1* Grm1   Alliance of Genome Resources
spinocerebellar ataxia 45 FAT2* Fat2   Alliance of Genome Resources
spinocerebellar ataxia 46 PLD3* Pld3   Alliance of Genome Resources
spinocerebellar ataxia type 10 ATXN10* Atxn10   Alliance of Genome Resources
spinocerebellar ataxia type 11 TTBK2* Ttbk2   Alliance of Genome Resources
spinocerebellar ataxia type 12 PPP2R2B* Ppp2r2b   Alliance of Genome Resources
spinocerebellar ataxia type 13 KCNC3* Kcnc3   Alliance of Genome Resources
spinocerebellar ataxia type 15 ITPR1* Itpr1 2 models Alliance of Genome Resources
spinocerebellar ataxia type 19/22 KCND3* Kcnd3   Alliance of Genome Resources
spinocerebellar ataxia type 21 TMEM240* Tmem240   Alliance of Genome Resources
spinocerebellar ataxia type 23 PDYN* Pdyn   Alliance of Genome Resources
spinocerebellar ataxia type 25 PNPT1* Pnpt1   Alliance of Genome Resources
spinocerebellar ataxia type 26 EEF2* Eef2   Alliance of Genome Resources
spinocerebellar ataxia type 29 ITPR1* Itpr1   Alliance of Genome Resources
spinocerebellar ataxia type 31 BEAN1* Bean1   Alliance of Genome Resources
spinocerebellar ataxia type 34 ELOVL4* Elovl4   Alliance of Genome Resources
spinocerebellar ataxia type 35 TGM6* Tgm6   Alliance of Genome Resources
spinocerebellar ataxia type 36 NOP56* Nop56   Alliance of Genome Resources
spinocerebellar ataxia type 37 DAB1* Dab1   Alliance of Genome Resources
spinocerebellar ataxia type 38 ELOVL5* Elovl5   Alliance of Genome Resources
spinocerebellar ataxia type 4 ZFHX3* Zfhx3   Alliance of Genome Resources
spinocerebellar ataxia type 40 CCDC88C* Ccdc88c   Alliance of Genome Resources
spinocerebellar ataxia type 8 ATXN8OS*  
spinocerebellar ataxia type 8 ATXN8*  
spinocerebellar ataxia with axonal neuropathy 2 SETX* Setx   Alliance of Genome Resources
spinocerebellar ataxia with axonal neuropathy type 3 COA7* Coa7   Alliance of Genome Resources
split hand-foot malformation 1 with sensorineural hearing loss DLX5* Dlx5   Alliance of Genome Resources
split hand-foot malformation 4 TP63* Trp63   Alliance of Genome Resources
split hand-foot malformation 6 WNT10B* Wnt10b   Alliance of Genome Resources
SPOAN syndrome KLC2* Klc2   Alliance of Genome Resources
spondylocostal dysostosis 1 DLL3* Dll3   Alliance of Genome Resources
spondylocostal dysostosis 2 MESP2* Mesp2   Alliance of Genome Resources
spondylocostal dysostosis 3 LFNG* Lfng   Alliance of Genome Resources
spondylocostal dysostosis 4 HES7* Hes7   Alliance of Genome Resources
spondylocostal dysostosis 5 TBX6* Tbx6   Alliance of Genome Resources
spondylocostal dysostosis 6 RIPPLY2* Ripply2   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Genevieve-type NANS* Nans   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Missouri type MMP13* Mmp13   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Sponastrime type TONSL* Tonsl   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Strudwick type COL2A1* Col2a1   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 1 B3GALT6* B3galt6   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 2 KIF22* Kif22   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 3 EXOC6B* Exoc6b   Alliance of Genome Resources
spondyloepiphyseal dysplasia Kimberley type ACAN* Acan   Alliance of Genome Resources
spondyloepiphyseal dysplasia Kondo-Fu type MBTPS1* Mbtps1   Alliance of Genome Resources
spondyloepiphyseal dysplasia Maroteaux type TRPV4* Trpv4   Alliance of Genome Resources
spondyloepiphyseal dysplasia Nishimura type MIR140* Mir140   Alliance of Genome Resources
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis NMNAT1* Nmnat1   Alliance of Genome Resources
spondyloepiphyseal dysplasia Stanescu type COL2A1* Col2a1   Alliance of Genome Resources
spondylometaepiphyseal dysplasia, short limb-hand type DDR2* Ddr2   Alliance of Genome Resources
spondylometaphyseal dysplasia corner fracture type FN1* Fn1   Alliance of Genome Resources
spondylometaphyseal dysplasia Kozlowski type TRPV4* Trpv4   Alliance of Genome Resources
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type PAM16* Pam16, Pam16l   Alliance of Genome Resources
spondylometaphyseal dysplasia Sedaghatian type GPX4* Gpx4   Alliance of Genome Resources
spondylometaphyseal dysplasia with cone-rod dystrophy PCYT1A* Pcyt1a   Alliance of Genome Resources
spondylometaphyseal dysplasia with corneal dystrophy PLCB3* Plcb3   Alliance of Genome Resources
spondyloperipheral dysplasia COL2A1* Col2a1   Alliance of Genome Resources
steatocystoma multiplex KRT17* Krt17   Alliance of Genome Resources
Stickler syndrome 1 COL2A1* Col2a1   Alliance of Genome Resources
Stickler syndrome 2 COL11A1* Col11a1   Alliance of Genome Resources
stiff skin syndrome FBN1* Fbn1   Alliance of Genome Resources
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ADPRS* Adprs   Alliance of Genome Resources
Stromme syndrome CENPF* Cenpf 1 "NOT" model Alliance of Genome Resources
Sweeney-Cox syndrome TWIST1* Twist1   Alliance of Genome Resources
syndactyly-telecanthus-anogenital and renal malformations syndrome CCNQ* Ccnq   Alliance of Genome Resources
syndactyly type 1 IHH* Ihh   Alliance of Genome Resources
syndactyly type 3 GJA1*, GJA6P Gja1, Gja6   Alliance of Genome Resources
syndactyly type 4 SHH* Shh   Alliance of Genome Resources
syndactyly type 4 LMBR1* Lmbr1   Alliance of Genome Resources
syndactyly type 5 HOXD13* Hoxd13   Alliance of Genome Resources
syndactyly type 8 FGF16* Fgf16   Alliance of Genome Resources
syndromic microphthalmia 1 NAA10* Naa10   Alliance of Genome Resources
syndromic microphthalmia 1 BCOR*, BCORP1 Bcor   Alliance of Genome Resources
syndromic microphthalmia 12 RARB* Rarb   Alliance of Genome Resources
syndromic microphthalmia 13 HMGB3* Hmgb3   Alliance of Genome Resources
syndromic microphthalmia 14 MAB21L2* Mab21l2   Alliance of Genome Resources
syndromic microphthalmia 3 SOX2* Sox2   Alliance of Genome Resources
syndromic microphthalmia 5 OTX2* Otx2   Alliance of Genome Resources
syndromic microphthalmia 6 BMP4* Bmp4   Alliance of Genome Resources
syndromic microphthalmia 9 STRA6* Stra6   Alliance of Genome Resources
syndromic X-linked intellectual disability TAF1*, TAF1L Taf1   Alliance of Genome Resources
syndromic X-linked intellectual disability ZFX*, ZFY Zfa-ps, Zfx   Alliance of Genome Resources
syndromic X-linked intellectual disability NKAP* Nkap   Alliance of Genome Resources
syndromic X-linked intellectual disability DDX3X* D1Pas1, Ddx3x   Alliance of Genome Resources
syndromic X-linked intellectual disability 14 UPF3B* Upf3b   Alliance of Genome Resources
syndromic X-linked intellectual disability 34 NONO* Nono   Alliance of Genome Resources
syndromic X-linked intellectual disability 94 GRIA3* Gria3   Alliance of Genome Resources
syndromic X-linked intellectual disability Cabezas type CUL4B* Cul4b   Alliance of Genome Resources
syndromic X-linked intellectual disability Hedera type ARX* Arx   Alliance of Genome Resources
syndromic X-linked intellectual disability Hedera type ATP6AP2* Atp6ap2   Alliance of Genome Resources
syndromic X-linked intellectual disability Lubs type MECP2* Mecp2 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Najm type CASK* Cask   Alliance of Genome Resources
syndromic X-linked intellectual disability Nascimento type UBE2A* Ube2a   Alliance of Genome Resources
syndromic X-linked intellectual disability Pilorge type GLRA2* Glra2   Alliance of Genome Resources
syndromic X-linked intellectual disability Shashi type RBMX* Rbmx   Alliance of Genome Resources
syndromic X-linked intellectual disability Snyder type SMS* Sms, Sms-ps   Alliance of Genome Resources
syndromic X-linked intellectual disability Turner type HUWE1* Huwe1   Alliance of Genome Resources
syndromic X-linked intellectual disability type 10 HSD17B10* Hsd17b10   Alliance of Genome Resources
syndromic X-linked intellectual disorder Lujan-Fryns-type MED12* Med12   Alliance of Genome Resources
syndromic X-linked mental retardation 35 RPL10* Rpl10, Rpl10-ps3   Alliance of Genome Resources
syndromic X-linked mental retardation Hough type CNKSR2* Cnksr2   Alliance of Genome Resources
TANGO2-related metabolic encephalopathy and arrythmias TANGO2* Tango2   Alliance of Genome Resources
TARP syndrome RBM10* Rbm10   Alliance of Genome Resources
tarsal-carpal coalition syndrome NOG* Nog   Alliance of Genome Resources
Tatton-Brown-Rahman syndrome DNMT3A* Dnmt3a   Alliance of Genome Resources
temtamy preaxial brachydactyly syndrome CHSY1* Chsy1   Alliance of Genome Resources
Temtamy syndrome C12orf57* Grcc10   Alliance of Genome Resources
terminal osseous dysplasia FLNA* Flna   Alliance of Genome Resources
tetraamelia syndrome 1 WNT3* Wnt3   Alliance of Genome Resources
tetraamelia syndrome 2 RSPO2* Rspo2   Alliance of Genome Resources
thalassemia GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
Thiel-Behnke corneal dystrophy TGFBI* Tgfbi   Alliance of Genome Resources
Thomsen disease CLCN1* Clcn1   Alliance of Genome Resources
thrombocytopenia-absent radius syndrome RBM8A* Rbm8a, Rbm8a2   Alliance of Genome Resources
thrombophilia due to activated protein C resistance PROC* Proc   Alliance of Genome Resources
thrombophilia due to activated protein C resistance F5* F5   Alliance of Genome Resources
thrombophilia due to HRG deficiency HRG* Hrg   Alliance of Genome Resources
thrombophilia due to thrombin defect F2* F2   Alliance of Genome Resources
thrombophilia due to thrombin defect F13A1* F13a1   Alliance of Genome Resources
thrombophilia due to thrombin defect HABP2* Habp2   Alliance of Genome Resources
thrombophilia due to thrombin defect MTHFR* Mthfr   Alliance of Genome Resources
thrombophilia due to thrombomodulin defect THBD* Thbd   Alliance of Genome Resources
thyroid dyshormonogenesis 1 SLC5A5* Slc5a5   Alliance of Genome Resources
thyroid dyshormonogenesis 2A TPO* Tpo   Alliance of Genome Resources
thyroid dyshormonogenesis 3 TG* Tg   Alliance of Genome Resources
thyroid dyshormonogenesis 4 IYD* Iyd   Alliance of Genome Resources
thyroid dyshormonogenesis 5 DUOXA2* Duoxa2   Alliance of Genome Resources
thyroid dyshormonogenesis 6 DUOX2* Duox2   Alliance of Genome Resources
Tonne-Kalscheuer syndrome RLIM* Rlim   Alliance of Genome Resources
torsion dystonia 2 HPCA* Hpca   Alliance of Genome Resources
torsion dystonia 4 TUBB4A* Tubb4a   Alliance of Genome Resources
Townes-Brocks syndrome DACT1* Dact1   Alliance of Genome Resources
transient bullous dermolysis of the newborn COL7A1* Col7a1   Alliance of Genome Resources
transient infantile liver failure TRMU* Trmu   Alliance of Genome Resources
Treacher Collins syndrome 1 TCOF1* Tcof1   Alliance of Genome Resources
Treacher Collins syndrome 2 POLR1D* Polr1d   Alliance of Genome Resources
Treacher Collins syndrome 3 POLR1C* Polr1c   Alliance of Genome Resources
Treacher Collins syndrome 4 POLR1B* Polr1b   Alliance of Genome Resources
trichodontoosseous syndrome DLX3* Dlx3   Alliance of Genome Resources
trichohepatoenteric syndrome 1 SKIC3* Skic3   Alliance of Genome Resources
trichohepatoenteric syndrome 2 SKIC2* Skic2   Alliance of Genome Resources
trichorhinophalangeal syndrome type III TRPS1* Trps1   Alliance of Genome Resources
trimethylaminuria FMO3* Fmo3   Alliance of Genome Resources
triple-A syndrome AAAS* Aaas 1 "NOT" model Alliance of Genome Resources
tuberous sclerosis 1 TSC1* Tsc1   Alliance of Genome Resources
tuberous sclerosis 2 TSC2* Tsc2   Alliance of Genome Resources
tuberous sclerosis 2 IFNG* Ifng   Alliance of Genome Resources
tubular aggregate myopathy 2 ORAI1* Orai1   Alliance of Genome Resources
type 1 diabetes mellitus 2 INS* Ins1, Ins2   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1A COL6A1* Col6a1   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1B COL6A2* Col6a2   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 1C COL6A3* Col6a3   Alliance of Genome Resources
Ullrich congenital muscular dystrophy 2 COL12A1* Col12a1   Alliance of Genome Resources
urocanase deficiency UROC1* Uroc1   Alliance of Genome Resources
urofacial syndrome LRIG2* Lrig2   Alliance of Genome Resources
Usher syndrome MYO7A* Myo7a   Alliance of Genome Resources
Usher syndrome USH1C* Ush1c   Alliance of Genome Resources
Usher syndrome ARSG* Arsg   Alliance of Genome Resources
Usher syndrome USH2A* Ush2a   Alliance of Genome Resources
Usher syndrome type 1 USH1C* Ush1c   Alliance of Genome Resources
Usher syndrome type 1D PCDH15* Pcdh15   Alliance of Genome Resources
Usher syndrome type 1J CIB2* Cib2 1 "NOT" model Alliance of Genome Resources
Usher syndrome type 2 USH2A* Ush2a   Alliance of Genome Resources
Usher syndrome type 2A PDZD7* Pdzd7   Alliance of Genome Resources
Usher syndrome type 2C PDZD7* Pdzd7   Alliance of Genome Resources
Usher syndrome type 3B HARS1* Hars1   Alliance of Genome Resources
uveal coloboma-cleft lip and palate-intellectual disability YAP1* Yap1   Alliance of Genome Resources
UV-sensitive syndrome ERCC6* Ercc6   Alliance of Genome Resources
UV-sensitive syndrome ERCC8* Ercc8   Alliance of Genome Resources
UV-sensitive syndrome UVSSA* Uvssa   Alliance of Genome Resources
Van den Ende-Gupta syndrome SCARF2* Scarf2   Alliance of Genome Resources
Van Esch-O'Driscoll syndrome POLA1* Pola1   Alliance of Genome Resources
Van Maldergem syndrome 1 DCHS1* Dchs1   Alliance of Genome Resources
Van Maldergem syndrome 2 FAT4* Fat4   Alliance of Genome Resources
ventriculomegaly - cystic kidney disease CRB2* Crb2   Alliance of Genome Resources
vertebral anomalies and variable endocrine and T-cell dysfunction TBX2* Tbx2   Alliance of Genome Resources
vertebral hypersegmentation and orofacial anomalies GDF11* Gdf11   Alliance of Genome Resources
vestibular schwannomatosis VEGFA* Vegfa   Alliance of Genome Resources
vestibular schwannomatosis SMARCB1* Smarcb1   Alliance of Genome Resources
Vici syndrome EPG5* Epg5   Alliance of Genome Resources
Vissers-Bodmer syndrome CNOT1* Cnot1   Alliance of Genome Resources
visual impairment and progressive phthisis bulbi MARK3* Mark3   Alliance of Genome Resources
vitamin D-dependent rickets type 1A CYP27B1* Cyp27b1   Alliance of Genome Resources
vitamin D-dependent rickets type 1B CYP2R1* Cyp2r1   Alliance of Genome Resources
vitamin D-dependent rickets type 2A VDR* Vdr   Alliance of Genome Resources
Vohwinkel syndrome GJB2* Gjb2   Alliance of Genome Resources
Vulto-van Silfout-de Vries syndrome DEAF1* Deaf1   Alliance of Genome Resources
Waardenburg syndrome EDN3* Edn3   Alliance of Genome Resources
Waardenburg syndrome PAX3* Pax3   Alliance of Genome Resources
Waardenburg syndrome MITF* Mitf   Alliance of Genome Resources
Waardenburg syndrome KITLG* Kitl   Alliance of Genome Resources
Waardenburg syndrome EDNRB* Ednrb   Alliance of Genome Resources
Waardenburg syndrome type 2E SOX10* Sox10   Alliance of Genome Resources
Waardenburg syndrome type 3 PAX3* Pax3 5 "NOT" models Alliance of Genome Resources
Waisman syndrome RAB39B* Rab39b   Alliance of Genome Resources
Walker-Warburg syndrome FKTN* Fktn   Alliance of Genome Resources
Walker-Warburg syndrome POMT2* Pomt2   Alliance of Genome Resources
Walker-Warburg syndrome FKRP* Fkrp   Alliance of Genome Resources
Walker-Warburg syndrome POMT1* Pomt1   Alliance of Genome Resources
Warburg micro syndrome 1 RAB3GAP1* Rab3gap1   Alliance of Genome Resources
Warburg micro syndrome 2 RAB3GAP2* Rab3gap2   Alliance of Genome Resources
Warsaw breakage syndrome DDX11*, DDX11L8, DDX12P Ddx11   Alliance of Genome Resources
Watson syndrome NF1* Nf1   Alliance of Genome Resources
Weill-Marchesani syndrome LTBP2* Ltbp2   Alliance of Genome Resources
Werner syndrome LMNA* Lmna   Alliance of Genome Resources
Weyers acrofacial dysostosis EVC* Evc   Alliance of Genome Resources
Weyers acrofacial dysostosis EVC2* Evc2   Alliance of Genome Resources
WHIM syndrome 2 CXCR2* Cxcr2   Alliance of Genome Resources
white sponge nevus 1 KRT4* Krt4   Alliance of Genome Resources
white sponge nevus 2 KRT13* Krt13   Alliance of Genome Resources
White-Sutton syndrome POGZ* Pogz   Alliance of Genome Resources
Wiedemann-Rautenstrauch syndrome POLR3A* Polr3a   Alliance of Genome Resources
Williams-Beuren syndrome NCF1*, NCF1B, NCF1C Ncf1   Alliance of Genome Resources
Williams-Beuren syndrome BUD23* Bud23 2 models Alliance of Genome Resources
Williams-Beuren syndrome DNAJC30* Dnajc30 2 models Alliance of Genome Resources
Williams-Beuren syndrome ELN* Eln 2 models Alliance of Genome Resources
Williams-Beuren syndrome LAT2* Lat2 2 models Alliance of Genome Resources
Williams-Beuren syndrome FKBP6* Fkbp6 2 models Alliance of Genome Resources
Williams-Beuren syndrome RCC1L* Rcc1l   Alliance of Genome Resources
Williams-Beuren syndrome FZD3* Fzd3   Alliance of Genome Resources
Wilson-Turner syndrome HDAC8* Hdac8   Alliance of Genome Resources
Wilson-Turner syndrome LAS1L* Las1l   Alliance of Genome Resources
Wolfram syndrome 2 CISD2* Cisd2 1 model Alliance of Genome Resources
Woodhouse-Sakati syndrome DCAF17* Dcaf17   Alliance of Genome Resources
Worth syndrome LRP5*, LRP5L Lrp5   Alliance of Genome Resources
wrinkly skin syndrome ATP6V0A2* Atp6v0a2   Alliance of Genome Resources
xanthinuria type I XDH* Xdh   Alliance of Genome Resources
xeroderma pigmentosum DDB2* Ddb2   Alliance of Genome Resources
xeroderma pigmentosum XPC* Xpc   Alliance of Genome Resources
xeroderma pigmentosum XPA* Xpa   Alliance of Genome Resources
xeroderma pigmentosum ERCC4* Ercc4   Alliance of Genome Resources
xeroderma pigmentosum ERCC3* Ercc3   Alliance of Genome Resources
xeroderma pigmentosum ERCC2* Ercc2   Alliance of Genome Resources
XFE progeroid syndrome ERCC4* Ercc4   Alliance of Genome Resources
X-linked Aarskog syndrome FGD1* Fgd1   Alliance of Genome Resources
X-linked atrophic macular degeneration RPGR* Rpgr   Alliance of Genome Resources
X-linked cardiac valvular dysplasia FLNA* Flna   Alliance of Genome Resources
X-linked chondrodysplasia punctata 1 ARSL*  
X-linked chondrodysplasia punctata 2 EBP* Ebp   Alliance of Genome Resources
X-linked chronic granulomatous disease CYBB* Cybb   Alliance of Genome Resources
X-linked chronic idiopathic intestinal pseudo-obstruction FLNA* Flna   Alliance of Genome Resources
X-linked cone-rod dystrophy 3 CACNA1F* Cacna1f   Alliance of Genome Resources
X-linked congenital bilateral absence of vas deferens ADGRG2* Adgrg2   Alliance of Genome Resources
X-linked congenital hemolytic anemia ATP11C* Atp11c   Alliance of Genome Resources
X-linked deafness 1 PRPS1* Prps1   Alliance of Genome Resources
X-linked deafness 2 POU3F4* Pou3f4   Alliance of Genome Resources
X-linked deafness 5 AIFM1* Aifm1   Alliance of Genome Resources
X-linked deafness 6 COL4A6* Col4a6   Alliance of Genome Resources
X-linked deafness 7 GPRASP2*, ARMCX5-GPRASP2, GPRASP3 Bhlhb9, Gprasp2   Alliance of Genome Resources
X-linked dilated cardiomyopathy DMD* Dmd   Alliance of Genome Resources
X-linked dyserythropoietic anemia GATA1* Gata1   Alliance of Genome Resources
X-linked dyskeratosis congenita DKC1* Dkc1   Alliance of Genome Resources
X-linked dystonia-parkinsonism TAF1*, TAF1L Taf1   Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 1 EMD* Emd   Alliance of Genome Resources
X-linked Emery-Dreifuss muscular dystrophy 6 FHL1* Fhl1   Alliance of Genome Resources
X-linked epilepsy with variable learning disabilities and behavior disorders SYN1* Syn1   Alliance of Genome Resources
X-linked exudative vitreoretinopathy 2 NDP* Ndp   Alliance of Genome Resources
X-linked ichthyosis STS* Sts   Alliance of Genome Resources
X-Linked immunodeficiency 74 TLR7* Tlr7   Alliance of Genome Resources
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia MAGT1* Magt1   Alliance of Genome Resources
X-linked intellectual developmental disorder 108 SLC9A7* Slc9a7   Alliance of Genome Resources
X-linked intellectual developmental disorder 109 AFF2* Aff2   Alliance of Genome Resources
X-linked intellectual disability-psychosis-macroorchidism syndrome MECP2* Mecp2   Alliance of Genome Resources
X-linked keratosis follicularis spinulosa decalvans MBTPS2* Mbtps2   Alliance of Genome Resources
X-linked lissencephaly 1 DCX* Dcx   Alliance of Genome Resources
X-linked lissencephaly 2 ARX* Arx   Alliance of Genome Resources
X-linked lymphoproliferative syndrome 2 XIAP*, BIRC8 Xiap   Alliance of Genome Resources
X-linked mental retardation Gustavson type RBMX* Rbmx   Alliance of Genome Resources
X-linked mental retardation-hypotonic facies syndrome-1 ATRX* Atrx   Alliance of Genome Resources
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance OPHN1* Ophn1   Alliance of Genome Resources
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques MBTPS2* Mbtps2   Alliance of Genome Resources
X-linked myopathy with excessive autophagy VMA21* Vma21   Alliance of Genome Resources
X-linked nephrolithiasis type I CLCN5* Clcn5   Alliance of Genome Resources
X-linked panhypopituitarism SOX3* Sox3   Alliance of Genome Resources
X-linked parkinsonism-spasticity syndrome ATP6AP2* Atp6ap2   Alliance of Genome Resources
X-linked properdin deficiency CFP* Cfp   Alliance of Genome Resources
X-linked recessive hypophosphatemic rickets CLCN5* Clcn5   Alliance of Genome Resources
X-linked reticulate pigmentary disorder POLA1* Pola1   Alliance of Genome Resources
X-linked retinitis pigmentosa and sinorespiratory infections RPGR* Rpgr   Alliance of Genome Resources
X-linked severe combined immunodeficiency IL2RG* Il2rg 3 "NOT" models Alliance of Genome Resources
X-linked severe congenital neutropenia WAS* Was   Alliance of Genome Resources
X-linked sideroblastic anemia with ataxia ABCB7* Abcb7   Alliance of Genome Resources
X-linked spermatogenic failure 2 TEX11* Tex11   Alliance of Genome Resources
X-linked spermatogenic failure 3 CFAP47* Cfap47   Alliance of Genome Resources
X-linked spermatogenic failure 4 GCNA*  
X-linked spermatogenic failure 5 SSX1*, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX6P, SSX7, SSX8P, SSX9P Ssxa1, Ssxb1, Ssxb2, Ssxb3, Ssxb5, Ssxb6, Ssxb8, Ssxb9, Ssxb10, Ssxb13, Ssxb14, Ssxb15, Ssxb16   Alliance of Genome Resources
X-linked spermatogenic failure 6 USP26* Usp26   Alliance of Genome Resources
X-linked spermatogenic failure 7 CT55* Ct55   Alliance of Genome Resources
X-linked spermatogenic failure 8 CYLC1* Cylc1   Alliance of Genome Resources
X-linked spinal muscular atrophy 2 UBA1* Uba1   Alliance of Genome Resources
X-linked spinocerebellar ataxia 1 ATP2B3* Atp2b3   Alliance of Genome Resources
X-linked spondyloepimetaphyseal dysplasia BGN* Bgn   Alliance of Genome Resources
X-linked spondyloepiphyseal dysplasia tarda TRAPPC2*, TRAPPC2B Trappc2, Trappc2b   Alliance of Genome Resources
X-linked thrombocytopenia with beta-thalassemia GATA1* Gata1   Alliance of Genome Resources
X-linked thrombophilia due to factor IX defect F9* F9   Alliance of Genome Resources
X-linked VACTERL association ZIC3* Zic3   Alliance of Genome Resources
Y-linked deafness 2 TBL1Y*, TBL1X Tbl1x   Alliance of Genome Resources
Y-linked spermatogenic failure 2 USP9Y* Usp9y   Alliance of Genome Resources
Yoon-Bellen neurodevelopmental syndrome OGDHL* Ogdhl   Alliance of Genome Resources
Zellweger syndrome ABCD3* Abcd3   Alliance of Genome Resources
Zellweger syndrome NR5A1* Nr5a1   Alliance of Genome Resources
Zellweger syndrome PHYH* Phyh   Alliance of Genome Resources
ZTTK syndrome SON* Son   Alliance of Genome Resources

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  abdominal obesity-metabolic syndrome Tg(RP11-578M14)5Mkru 1 model
  abdominal obesity-metabolic syndrome 1 Tg(Fabp4-Hsd11b1)7Jesf 1 model
  abdominal obesity-metabolic syndrome 1 Tg(Fabp4-ENPP1)#Naba 1 model
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Plp1-LMNB1)1108Qsp 1 model
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Lmnb1)1Yfu 1 model
  adult-onset autosomal dominant demyelinating leukodystrophy Tg(Plp1-Lmnb1)#Yfu 1 model
  advanced sleep phase syndrome 1 Tg(PER2*S662G)867Ljp 1 model
  advanced sleep phase syndrome 2 Tg(CSNK1D*,-EGFP)816Yfu 1 model
  advanced sleep phase syndrome 2 Tg(CSNK1D*,-EGFP)827Yfu 1 model
  age related macular degeneration 1 Tg(APOB)1102Sgy 1 model
  Alexander disease Tg(Gfap-GFAP*R239H)60TMIke 1 model
  Alexander disease Tg(GFAP)7Mes 1 model
  Alexander disease Tg(GFAP)10Mes 3 models
  alpha thalassemia Hba 8 models
  Alzheimer's disease 3 Tg(APPswe,PSEN1dE9)85Dbo 2 models
  Alzheimer's disease 3 Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas 1 model
  Alzheimer's disease 3 Tg(PSEN1H163R)G9Btla 1 model
  Alzheimer's disease 3 Tg(PSEN1dE9)S9Dbo 4 models
  Alzheimer's disease 4 Tg(APP695)3Dbo 3 models
  amelogenesis imperfecta type 1E Tg(AMELX*P70T)2Gibs 2 models
  amyotrophic lateral sclerosis type 1 Tg(Thy1-SOD1*G93A)T3Hgrd 2 models
  amyotrophic lateral sclerosis type 1 Tg(Thy1-Sncg)HvP36Putt 1 model
  amyotrophic lateral sclerosis type 1 Tg(Thy1-DCTN1*G59S)M2Pcw 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*L126Z)#Deng 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*L126Z)45Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R*H48Q)139Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R*H48Q)58Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)LAra 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)IAra 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)#Maw 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G127X)716Mrkl 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)dl1Gur 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)2Gur 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)1Gur 6 models
  amyotrophic lateral sclerosis type 1 Tg(Sod1*G86R)M1Jwg 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R/EYFP)737Alho 1 model
  amyotrophic lateral sclerosis type 1 Tg(Myl1-SOD1*G93A)#Amu 1 model
  amyotrophic lateral sclerosis type 1 Tg(NEFH)200Jpj 2 models
  amyotrophic lateral sclerosis type 1 Tg(NFH)120Jpj 2 models
  amyotrophic lateral sclerosis type 1 Tg(Prnp-Immt/SOD1*G93A)7Gmnf 1 model
  amyotrophic lateral sclerosis type 1 Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*)125Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*)D-14Dbo 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*)DF7Yaw 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G37R)1Dwc 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G37R)9Dpr 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R/EYFP)641Alho 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G37R)29Dpr 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G37R)42Dpr 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G37R)106Dpr 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R)74Dwc 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R)148Dwc 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R)#Roos 2 models
  arrhythmogenic right ventricular dysplasia 12 Tg(Myh6-Jup*)1Ajm 2 models
  arrhythmogenic right ventricular dysplasia 12 Tg(Myh6-JUP*)1Dpju 1 model
  arrhythmogenic right ventricular dysplasia 9 Tg(Myh6-Pkp2*/mRuby)5Rbrug 2 models
  arrhythmogenic right ventricular dysplasia 9 Tg(Myh6-Pkp2*/mRuby)4Rbrug 2 models
  atrichia with papular lesions Tg(K6ODCtr)55Tgo 1 model
  autosomal dominant auditory neuropathy 1 Tg(CAG-Diap3)924Lesp 1 model
  autosomal dominant auditory neuropathy 1 Tg(CAG-Diaph3)771Lesp 1 model
  autosomal dominant hypophosphatemic rickets Tg(APOE-FGF23*R176Q)#Ack 1 model
  autosomal dominant keratitis-ichthyosis-deafness syndrome Tg(tetO-GJB2*G45E,-EGFP)#Tww 1 model
  autosomal dominant limb-girdle muscular dystrophy type 1 Tg(Ckm-DNAJB6_ib*F93L)#Ccwe 1 model
  autosomal dominant nocturnal frontal lobe epilepsy 3 Tg(tetO-Chrnb2*V287L)H3Gica 1 model
  autosomal dominant polycystic kidney disease Tg(HBB-Myc)#Cos 1 model
  autosomal recessive hypophosphatemic rickets Tg(APOE-FGF23*R176Q)#Ack 1 model
  autosomal recessive nonsyndromic deafness 1A Del(14Gjb6-Cryl1)1Lmon 1 model
  autosomal recessive nonsyndromic deafness 38 Phl1 2 models
  autosomal recessive polycystic kidney disease T(2;10)67Gso 1 model
  autosomal recessive polycystic kidney disease Tg(Pkd1)26Mtru 1 model
  Axenfeld-Rieger syndrome type 1 Tg(Kera-PITX2*A)AHjal 1 model
  Axenfeld-Rieger syndrome type 1 Tg(Kera-PITX2*A)BHjal 1 model
  Axenfeld-Rieger syndrome type 1 Tg(KRT14-Hmgn2)#Baam 1 model
  beta thalassemia Hbb 6 models
  beta thalassemia Rr320 2 models
  CADASIL 1 Tg(Notch3*R169C)88Bbb 1 model
  Carney complex Tg(tetO-Prkar1a*x2as)1Stra 1 model
  cataract Tg(Cryaa-APEH)KKS4Kksha 1 model
  cataract 19 multiple types Tg(Lim2*G15V)1Rlc 2 models
  cataract 2 multiple types Tg(CRYBB1-CRYGC*)#Jfhe 1 model
  cataract 30 Tg(Vim*R113C)1Tmm 1 model
  cataract 5 multiple types Tg(Hsf4/EGFP)N7Spbh 1 model
  Charcot-Marie-Tooth disease axonal type 2F Tg(Thy1-HSPB1*S135F)#Lvdb 1 model
  Charcot-Marie-Tooth disease type 1A Tg(Pmp22)247Ueli 1 model
  Charcot-Marie-Tooth disease type 1A Tg(tetO/CMV-Pmp22)JP18Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(Pmp22)My41Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C61Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C22Clh 1 model
  Charcot-Marie-Tooth disease type 1A Tg(PMP22)C3Fbas 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.2Mfel 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.1Mfel 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz*S63X)31Mes 2 models
  Charcot-Marie-Tooth disease type 1B Tg(Mpz*S63X)30Mes 1 model
  Charcot-Marie-Tooth disease type 1B Tg(Mpz)88.4Mfel 1 model
  Charcot-Marie-Tooth disease type 1C Tg(CMV-LITAF*W116G)#Lli 1 model
  Charcot-Marie-Tooth disease type 2A2A Tg(Eno2-MFN2*R94Q)L87Ugfm 1 model
  Charcot-Marie-Tooth disease type 2A2A Tg(Eno2-MFN2*R94Q)L51Ugfm 2 models
  Charcot-Marie-Tooth disease type 2A2A Tg(Mnx1-Mfn2*T105M,-EGFP)1Dcc 1 model
  Charcot-Marie-Tooth disease type 2E Tg(tetO-NEFL)173.2Jpj 1 model
  Charcot-Marie-Tooth disease type 2E Tg(NEFL*E397K)#Milg 1 model
  Charcot-Marie-Tooth disease type 3 Tg(Mpz*S63C)32Mes 1 model
  Charcot-Marie-Tooth disease type 3 Tg(Mpz*S63C)33Mes 1 model
  Charcot-Marie-Tooth disease type 4J Tg(ACTB-Fig4*I41T)705Mm 1 model
  cone-rod dystrophy 14 Tg(Rho-GUCA1A*Y99C)L53Amd 1 model
  cone-rod dystrophy 6 Tg(Rho-GUCY2D*R838S)379Amd 1 model
  cone-rod dystrophy 6 Tg(Rho-GUCY2D*R838S)362Amd 1 model
  congenital generalized lipodystrophy type 2 Tg(aP2-SREBF1c)9884Reh 1 model
  congenital myasthenic syndrome 3A Tg(Ckm-Chrnd*S262T)40Cgz 1 model
  congenital myasthenic syndrome 4A Tg(Ckm-Chrne*L269F)5Cgz 1 model
  congenital stationary night blindness autosomal dominant 1 Tg(Rho*G90D*A337V)202Sie 1 model
  cystic fibrosis Tg(Scgb1a1-Scnn1b)6608Bouc 1 model
  dentatorubral-pallidoluysian atrophy Tg(Eno2-ATN1)14Tx 1 model
  dentatorubral-pallidoluysian atrophy Tg(Prnp-ATN1)150Dbo 1 model
  dentatorubral-pallidoluysian atrophy Tg(Prnp-ATN1)124Dbo 1 model
  dentatorubral-pallidoluysian atrophy Tg(Eno2-ATN1)3Tx 1 model
  dentatorubral-pallidoluysian atrophy Tg(ATN1*)Q129Stsu 1 model
  DiGeorge syndrome Del(16Dgcr2-Hira)3Aam 1 model
  DiGeorge syndrome Del(16Es2el-Ufd1l)217Bld 1 model
  DiGeorge syndrome Del(16Dgcr2-Hira)1Rak 1 model
  dilated cardiomyopathy 1A Tg(Myh6-LMNA*E82K)35Lizh 1 model
  dilated cardiomyopathy 1C Tg(Myh6-LDB3*S196L)93Mva 1 model
  dilated cardiomyopathy 1D Tg(Myh6-TNNT2*R141W)#Ajm 1 model
  dilated cardiomyopathy 1D Tg(Myh6-TNNT2*R141W)#Lian 1 model
  dilated cardiomyopathy 1E Tg(Myh6*/tetO-SCN5A*F1759A)#Marx 1 model
  dilated cardiomyopathy 1L Tg(Myh6-Sgcd*S151A)5Mcn 1 model
  dilated cardiomyopathy 1P Tg(Myh6-Pln*)#Egk 1 model
  dilated cardiomyopathy 1R Tg(Myh6-Actc1*R312H)307Iko 1 model
  dilated cardiomyopathy 1R Tg(Myh6-ACTC1*E361G)361.20Sbm 1 model
  dilated cardiomyopathy 1Y Tg(Myh6-Tpm1*D230N)HJcf 1 model
  dilated cardiomyopathy 1Y Tg(Myh6-Tpm1*E54K)67Dfw 1 model
  dilated cardiomyopathy 1Y Tg(Myh6-Tpm1*E54K)30Dfw 1 model
  Duchenne muscular dystrophy Tg(ACTA1-Ctss)1Jmol 1 model
  familial cold autoinflammatory syndrome 4 Tg(Cd74-Nlrc4*)1Kyas 1 model
  familial encephalopathy with neuroserpin inclusion bodies Tg(Thy1-SERPINI1*G392E)333Icka 2 models
  familial temporal lobe epilepsy 1 Tg(Lgi1*)#Mpan 1 model
  Feingold syndrome Mirc1 1 model
  fibrodysplasia ossificans progressiva Tg(Eno2-Bmp4)3Jake 1 model
  fibrodysplasia ossificans progressiva Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis 1 model
  Finnish type amyloidosis Tg(Ckm-GSN*D187N)AJewe 2 models
  focal segmental glomerulosclerosis 2 Tg(NPHS2-Trpc6)F419Walz 1 model
  focal segmental glomerulosclerosis 2 Tg(NPHS2-Trpc6*P111Q)F615Walz 1 model
  focal segmental glomerulosclerosis 2 Tg(NPHS2-Trpc6*E896K)F75aWalz 1 model
  fragile X-associated tremor/ataxia syndrome Tg(tetO-FMR1*,-EGFP)#Rkhu 2 models
  fragile X-associated tremor/ataxia syndrome Tg(Pcp2-FMR1*)1Dln 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(Camk2a-Tardbp)#Ckjs 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(Prnp-TARDBP)3cPtrc 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(TARDBP)#Jpj 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(TARDBP*A315T)#Jpj 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(TARDBP*G348C)#Jpj 1 model
  Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Tg(Thy1-TARDBP*)BOddo 2 models
  hyperekplexia 1 Tg(Thy1-GLRA1*R271Q)300Wha 1 model
  hyperekplexia 1 Tg(Thy1-GLRA1*R271Q)382Wha 1 model
  hyper IgE recurrent infection syndrome 1 Tg(Stat3*)9199Alau 1 model
  hypochondrogenesis Tg(Col2a1*G574S)1Waho 1 model
  idiopathic pulmonary fibrosis Tg(H2-K-Fosl2,-EGFP)13Wag 1 model
  idiopathic pulmonary fibrosis Tg(SFTPC-Tnf)2Pva 1 model
  inflammatory bowel disease 16 Tg(Csf1r-Tnfsf15,-EGFP)#Targ 1 model
  inflammatory bowel disease 16 Tg(Lck-Tnfsf15,-EGFP)#Targ 1 model
  juvenile polyposis syndrome Tg(CAG-Bmpr1a*,-lacZ)1Nobs 1 model
  Kennedy's disease Tg(CAG-AR*97Q)7-8Sobue 1 model
  Kennedy's disease Tg(ACTA1-Ar)141Kyjo 1 model
  Kennedy's disease Tg(AR*100Q)#Als 1 model
  Kennedy's disease Tg(AR*100Q)C25Als 1 model
  Kennedy's disease Tg(AR*100Q)C32Als 1 model
  Kennedy's disease Tg(Prnp-AR*112Q)#Deme 1 model
  Lafora disease Tg(CAG-EPM2A*C266S)1Bmin 1 model
  leukoencephalopathy with vanishing white matter Tg(Plp1-Eif2ak3*)18Pop 1 model
  long QT syndrome 1 Tg(Myh6-KCNQ1_i2)H05Desc 1 model
  long QT syndrome 1 Tg(Myh6-KCNQ1_i2)H02Desc 1 model
  Machado-Joseph disease Tg(Prnp-ATXN3*70Q)70.61Olri 1 model
  Machado-Joseph disease Tg(Prnp-ATXN3*79Q)#Hlw 1 model
  Machado-Joseph disease Tg(CMV-ATXN3*94Q)94Pama 2 models
  Machado-Joseph disease Tg(Prnp-ATXN3*148Q)148.19Olri 1 model
  Machado-Joseph disease Tg(Prnp-ATXN3*148Q)NLS.28Olri 1 model
  Machado-Joseph disease Tg(Pcp2-ATXN3*69Q)bHirai 1 model
  Machado-Joseph disease Tg(ATXN3*)84.2Cce 3 models
  Machado-Joseph disease Tg(ATXN3*)67.2Cce 2 models
  Machado-Joseph disease Tg(CMV-ATXN3*135Q)CPama 1 model
  Machado-Joseph disease Tg(Htt-ATXN3*148Q)3746Thsc 1 model
  Marsili syndrome Tg(Zfhx2*R1907K)#Jcox 1 model
  maturity-onset diabetes of the young type 3 Tg(Ins2-Hnf1a)#Cbw 1 model
  maturity-onset diabetes of the young type 3 Tg(Ins2-TCF1*P291)2Kya 1 model
  McCune Albright syndrome Tg(tetO-HTR4*D100A)2Niss 1 model
  McCune Albright syndrome Tg(EEF1A1-Gnas*R201C)184Pabi 1 model
  McCune Albright syndrome Tg(PGK1-Gnas*R201C)60Pabi 1 model
  Meckel syndrome bpck 1 model
  myofibrillar myopathy 1 Tg(Myh6-Des*)641Rbns 1 model
  myofibrillar myopathy 2 Tg(Myh6-CRYAB*R120G)7302Ijb 1 model
  myofibrillar myopathy 2 Tg(Myh6-Cryab*R120G)708Rbns 1 model
  myofibrillar myopathy 3 Tg(ACTA1-MYOT*T57I)71Mah 1 model
  myofibrillar myopathy 6 Tg(Myh6-BAG3*P209L)#Mswi 1 model
  nemaline myopathy 1 Tg(ACTA1-TPM3*M9R)4Hrd 1 model
  nemaline myopathy 3 Tg(ACTA1*D286G)#Kjno 2 models
  nemaline myopathy 3 Tg(ACTA1*D286G/EGFP)#Kjno 1 model
  Netherton syndrome Tg(IVL-KLK5)#Hov 1 model
  neurodegeneration with brain iron accumulation 3 Tg(PGK1-FTL*)#Sle 1 model
  neurodegeneration with brain iron accumulation 3 Tg(Prnp-FTL*)4Ruvi 1 model
  Noonan syndrome 1 Tg(CAG-cat,-Ptpn11*Q97R)1Rbns 2 models
  Noonan syndrome 1 Tg(Myh7-Ptpn11*Q79R)11Rbns 1 model
  Noonan syndrome with multiple lentigines Tg(CAG-cat,-Ptpn11*Q510E)#Krnz 1 model
  Noonan syndrome with multiple lentigines Tg(Myh7-Ptpn11*Q510E)#Krnz 1 model
  osteogenesis imperfecta type 1 Tg(COL1A1)73Prc 1 model
  osteogenesis imperfecta type 5 Tg(Col1a1-Ifitm5*)1Brle 1 model
  Parkinson's disease 1 Tg(Thy1-SNCA*E57K)16Ema 1 model
  Parkinson's disease 1 Tg(THY1-SNCA*A53T)M53Sud 1 model
  Parkinson's disease 1 Tg(Thy1-SNCA*A30P)18Pjk 1 model
  Parkinson's disease 1 Tg(Thy1-SNCA*)#Ztzh 1 model
  Parkinson's disease 1 Tg(Thy1-SNCA)61Ema 1 model
  Parkinson's disease 1 Tg(Th-SNCA*)1702Yosh 1 model
  Parkinson's disease 1 Tg(Snca-SNCA)#Galt 1 model
  Parkinson's disease 1 Tg(SNCA*E46K)3Elan 1 model
  Parkinson's disease 1 Tg(SNCA)ARyot 1 model
  Parkinson's disease 1 Tg(Prnp-SNCA*A53T)AAub 2 models
  Parkinson's disease 1 Tg(Prnp-SNCA*A53T)83Vle 2 models
  Parkinson's disease 1 Tg(Prnp-SNCA*A53T)25Mkle 1 model
  Parkinson's disease 1 Tg(PDGFB-SNCA/EGFP)78Ema 1 model
  Parkinson's disease 1 Tg(PDGFB-SNCA*A53T)8Ema 1 model
  Parkinson's disease 1 Tg(PDGFB-SNCA)4Ema 1 model
  Parkinson's disease 2 Tg(Slc6a3-PARK2*Q311X)AXwy 1 model
  Parkinson's disease 4 Tg(Thy1-Snca)1S13Putt 1 model
  Parkinson's disease 8 Tg(PDGFB-LRRK2*R1441C)31Hlw 1 model
  Parkinson's disease 8 Tg(Lrrk2*G2019S)2Yue 1 model
  Parkinson's disease 8 Tg(PDGFB-LRRK2*G2019S)32Hlw 1 model
  paroxysmal nonkinesigenic dyskinesia 1 Tg(Pnkd*A7V*A9V,-DsRed)671Ljp 1 model
  paroxysmal nonkinesigenic dyskinesia 1 Tg(Pnkd*A7V*A9V,-DsRed)704Ljp 1 model
  PCWH syndrome Tg(Venus/SOX10*)55Kein 2 models
  Pelizaeus-Merzbacher disease Tg(Plp)72Kan 1 model
  Pelizaeus-Merzbacher disease Tg(Plp)66Kan 2 models
  Pelizaeus-Merzbacher disease Dp(XTceal3-Plp1)1Gmh 1 model
  Perry syndrome Tg(Thy1-DCTN1*G71A)#Ytsu 1 model
  polycystic kidney disease 1 Tg(Pkd1*)39Mtru 2 models
  polycystic kidney disease 2 Tg(CAG-PKD2)#Hwl 1 model
  primary ciliary dyskinesia Del(1)1Brk 1 model
  primary ciliary dyskinesia Del(19Poll-Dcpd)1Nmt 1 model
  progeria Tg(LMNA*G608G)HClns 1 model
  progeria Tg(tetO-LMNA*G608G,-EGFP)VF1-07Maer 1 model
  pseudoachondroplasia Tg(Col2a1-rtTA,tetO-COMP*)2Jath 1 model
  retinitis pigmentosa 2 Tg(Rho-Arl3*Q71L)#Visu 1 model
  retinitis pigmentosa 4 Tg(Rho)1Wbae 1 model
  retinitis pigmentosa 4 Tg(RHO*P347S)A1Tili 3 models
  retinitis pigmentosa 4 Tg(RHO-P23H)DTpd 1 model
  rippling muscle disease 2 Tg(Ckmm-Cav3)1Ysu 1 model
  Sandhoff disease Tg(Hexb-tTA2S,tetO-Hexb)#Tjsa 1 model
  Sandhoff disease Tg(SYN1-tTA2S,tetO-Hexb)#Tjsa 1 model
  schizophrenia 9 Tg(tetO-DISC1*)70Plet 1 model
  schizophrenia 9 Tg(tetO-DISC1*)1001Plet 1 model
  SOST-related sclerosing bone dysplasia Tg(RP11-209M4)AGglo 2 models
  SOST-related sclerosing bone dysplasia Rr20 1 model
  Sotos syndrome Del(13Simc1-B4galt7)2Dja 1 model
  spinocerebellar ataxia type 1 Tg(Pcp2-ATXN1*82Q)5Horr 1 model
  spinocerebellar ataxia type 1 Tg(tetO-ATXN1*82Q)#Horr 1 model
  spinocerebellar ataxia type 10 Tg(Prnp-lacZ/ATXN10*)#Teas 1 model
  spinocerebellar ataxia type 14 Tg(tetO-PRKCG*S361G,-GFP)3Jpka 1 model
  spinocerebellar ataxia type 17 Tg(Pcp2-TBP*)69Hmhl 1 model
  spinocerebellar ataxia type 17 Tg(Prnp-TBP*)71-16Xjl 1 model
  spinocerebellar ataxia type 17 Tg(Prnp-TBP*)71-27Xjl 1 model
  spinocerebellar ataxia type 17 Tg(Prnp-TBP*)105Xjl 1 model
  spinocerebellar ataxia type 2 Tg(ATXN2*72Q)#Plt 1 model
  spinocerebellar ataxia type 2 Tg(Pcp2-ATXN2*127Q)#Plt 1 model
  spinocerebellar ataxia type 5 Tg(tetO-SPTBN2*)#Lpwr 1 model
  spinocerebellar ataxia type 7 Tg(Prnp-ATXN7*92Q)1963Als 1 model
  spinocerebellar ataxia type 7 Tg(GFAP-ATXN7*92Q)2542Als 1 model
  spinocerebellar ataxia type 7 Tg(Prnp-ATXN7*92Q)6076Als 1 model
  spinocerebellar ataxia type 7 Tg(Pcp2-SCA7)P7EJman 1 model
  spinocerebellar ataxia type 7 Tg(RHO-SCA7)R7EJman 1 model
  spinocerebellar ataxia type 7 Tg(GFAP-ATXN7*92Q)2521Als 1 model
  split hand-foot malformation 1 Del(6Dlx6-Dlx5)1Tlu 1 model
  spondyloepiphyseal dysplasia congenita Tg(Col2a1*R789C)#Waho 1 model
  Stargardt disease Tg(RBP3-ELOVL4*)1Kzh 1 model
  Stargardt disease Tg(RBP3-ELOVL4*)2Kzh 1 model
  Stargardt disease Tg(RBP3-ELOVL4*)3Kzh 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo 2 models
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)3Hzo 1 model
  torsion dystonia 1 Tg(CMV-TOR1A*)1Nush 1 model
  torsion dystonia 1 Tg(Eno2-TOR1A*)13Shas 1 model
  torsion dystonia 1 Tg(CMV-TOR1A*)2Nush 1 model
  transthyretin amyloidosis Tg(TTR-V30M)15Imeg 3 models
  transthyretin amyloidosis Tg(TTR)#Jbux 1 model
  tuberous sclerosis Tg(CMV-Tsc2*)1Arbi 1 model
  tuberous sclerosis Tg(CAG-Mtor*)#Atai 1 model
  type 1 diabetes mellitus 2 Tg(Ins-Igf2)1Fbos 3 models
  Usher syndrome type 3 Tg(Atoh1-Clrn1)#Kuna 2 models
  Werner syndrome Tg(CAG-WRN*K577M)5025Wcl 1 model
  Williams-Beuren syndrome Del(5Gtf2i-Fkbp6)1Vcam 1 model
  xeroderma pigmentosum Tg(KRT5-Terf2)POBlas 1 model
  xeroderma pigmentosum Tg(KRT5-Terf2)PMBlas 1 model
  X-linked cone-rod dystrophy 1 Tg(CMV-Rpgr)1Tili 1 model
  X-linked dominant hypophosphatemic rickets Tg(Col1a1-FGF2*,-Sapphire)203Mmh 1 model
  X-linked dominant hypophosphatemic rickets Tg(APOE-FGF23*R176Q)#Ack 1 model