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
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
agenesis of the corpus callosum with peripheral neuropathy SLC12A6* Slc12a6* 3 models Alliance of Genome Resources
alacrima, achalasia, and impaired intellectual development syndrome GMPPA* Gmppa* 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
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 3C RELT* Relt* 1 model Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 SOD1* Sod1* 2 models Alliance of Genome Resources
antithrombin III deficiency SERPINC1* Serpinc1* 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
atrichia with papular lesions HR* Hr* 2 models Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 2B CASP8* Casp8* 1 model Alliance of Genome Resources
autosomal 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 GJB2* Gjb2* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 1A GJB6* Gjb6* 3 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
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
Bernard-Soulier syndrome GP1BA* Gp1ba* 1 model Alliance of Genome Resources
Bernard-Soulier syndrome GP1BB* Gp1bb* 4 models 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
Bloom syndrome BLM* Blm* 7 models Alliance of Genome Resources
Bowen-Conradi syndrome EMG1* Emg1* 1 model Alliance of Genome Resources
brachyolmia-amelogenesis imperfecta syndrome LTBP3* Ltbp3* 1 model Alliance of Genome Resources
branched-chain keto acid dehydrogenase kinase deficiency BCKDK* Bckdk* 1 model Alliance of Genome Resources
brittle cornea syndrome 1 ZNF469* Zfp469* 1 model Alliance of Genome Resources
Canavan disease ASPA* Aspa* 4 models Alliance of Genome Resources
carbamoyl phosphate synthetase I deficiency disease CPS1* Cps1* 1 model Alliance of Genome Resources
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 9 multiple types CRYAA* Cryaa* 9 models Alliance of Genome Resources
Cayman type cerebellar ataxia ATCAY* Atcay* 3 models Alliance of Genome Resources
CEDNIK syndrome SNAP29* Snap29* 2 models Alliance of Genome Resources
cerebellar ataxia, mental retardation and dysequlibrium syndrome CA8* Car8* 1 model Alliance of Genome Resources
cerebellar ataxia, mental retardation and dysequlibrium syndrome ATP8A2* Atp8a2* 4 models Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2K GDAP1* Gdap1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2P LRSAM1* Lrsam1* 1 model Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2S IGHMBP2* Ighmbp2* 2 models Alliance of Genome Resources
Charcot-Marie-Tooth disease recessive intermediate D COX6A1* Cox6a1* 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 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
Charlevoix-Saguenay spastic ataxia SACS* Sacs* 2 models Alliance of Genome Resources
Chediak-Higashi syndrome LYST* Lyst* 9 models 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
Cockayne syndrome ERCC8* Ercc8* 2 models Alliance of Genome Resources
Cockayne syndrome ERCC6* Ercc6* 4 models Alliance of Genome Resources
Cohen syndrome VPS13B* Vps13b* 1 model Alliance of Genome Resources
Compton-North congenital myopathy CNTN1* Cntn1* 3 models Alliance of Genome Resources
congenital afibrinogenemia FGG* Fgg* 1 model Alliance of Genome Resources
congenital 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 hereditary endothelial dystrophy of cornea SLC4A11* Slc4a11* 1 model 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 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 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 secretory chloride diarrhea 1 SLC26A3* Slc26a3* 1 model Alliance of Genome Resources
congenital stationary night blindness 1B GRM6* Grm6* 2 models Alliance of Genome Resources
congenital stationary night blindness 1D SLC24A1* Slc24a1* 1 model Alliance of Genome Resources
congenital stationary night blindness 1E GPR179* Gpr179* 1 model Alliance of Genome Resources
congenital stationary night blindness 1F LRIT3* Lrit3* 1 model Alliance of Genome Resources
cortical dysplasia-focal epilepsy syndrome CNTNAP2* Cntnap2* 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
developmental and epileptic encephalopathy 16 TBC1D24* Tbc1d24* 1 model Alliance of Genome Resources
developmental and epileptic encephalopathy 39 SLC25A12* Slc25a12* 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
dilated cardiomyopathy 2F BAG5* Bag5* 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
EAST syndrome KCNJ10* Kcnj10* 2 models Alliance of Genome Resources
Ellis-Van Creveld syndrome EVC* Evc* 1 model Alliance of Genome Resources
Ellis-Van Creveld syndrome EVC2* Evc2* 1 model Alliance of Genome Resources
endocrine-cerebro-osteodysplasia syndrome CILK1* Cilk1* 2 models Alliance of Genome Resources
enhanced S-cone syndrome NR2E3* Nr2e3* 2 models Alliance of Genome Resources
epidermolysis bullosa simplex with muscular dystrophy PLEC* Plec* 2 models 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 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 lipoprotein lipase deficiency LPL* Lpl* 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
fibular hypoplasia and complex brachydactyly GDF5* Gdf5* 1 model Alliance of Genome Resources
Friedreich ataxia FXN* Fxn* 7 models Alliance of Genome Resources
frontonasal dysplasia 3 ALX1* Alx1* 1 model Alliance of Genome Resources
Fuhrmann syndrome WNT7A* Wnt7a* 2 models Alliance of Genome Resources
Fukuyama congenital muscular dystrophy FKTN* Fktn* 6 models Alliance of Genome Resources
geleophysic dysplasia 1 ADAMTSL2* Adamtsl2* 1 model Alliance of Genome Resources
giant axonal neuropathy 1 GAN* Gan* 2 models Alliance of Genome Resources
Gitelman syndrome SLC12A3* Slc12a3* 2 models Alliance of Genome Resources
glutaric acidemia I GCDH* Gcdh* 2 models Alliance of Genome Resources
glutaric acidemia type 3 SUGCT* Sugct* 1 model Alliance of Genome Resources
glycogen storage disease 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 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
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
Griscelli syndrome type 1 MYO5A* Myo5a* 2 models 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 15 ZFYVE26* Zfyve26* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 35 FA2H* Fa2h* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 48 AP5Z1* Ap5z1* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 54 DDHD2* Ddhd2* 1 model Alliance of Genome Resources
hereditary spastic paraplegia 7 SPG7* Spg7* 1 model Alliance of Genome Resources
hereditary spherocytosis type 1 ANK1* Ank1* 4 models Alliance of Genome Resources
hereditary spherocytosis type 3 SPTA1* Spta1* 5 models Alliance of Genome Resources
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
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
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
hypotrichosis 6 DSG4* Dsg4* 3 models 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
isolated microphthalmia 6 PRSS56* Prss56* 3 models Alliance of Genome Resources
Johanson-Blizzard syndrome UBR1* Ubr1* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia ITGB4* Itgb4* 1 model Alliance of Genome Resources
karyomegalic interstitial nephritis FAN1* Fan1* 3 models Alliance of Genome Resources
Kaufman oculocerebrofacial syndrome UBE3B* Ube3b* 1 model Alliance of Genome Resources
Kohlschutter-Tonz syndrome ROGDI* Rogdi* 1 model Alliance of Genome Resources
Kufor-Rakeb syndrome ATP13A2* Atp13a2* 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
Laron syndrome GHR* Ghr* 2 models Alliance of Genome Resources
Leber congenital amaurosis 1 GUCY2D* Gucy2e* 3 models Alliance of Genome Resources
Leber congenital amaurosis 12 RD3* Rd3* 1 model Alliance of Genome Resources
Leber congenital amaurosis 14 LRAT* Lrat* 1 model Alliance of Genome Resources
Leber congenital amaurosis 2 RPE65* Rpe65* 4 models Alliance of Genome Resources
Leber congenital amaurosis 4 AIPL1* Aipl1* 5 models Alliance of Genome Resources
Leber congenital amaurosis 5 LCA5* Lca5* 1 model Alliance of Genome Resources
Leber congenital amaurosis 6 RPGRIP1* Rpgrip1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 8 CRB1* Crb1* 3 models Alliance of Genome Resources
Leber congenital amaurosis 9 NMNAT1* Nmnat1* 2 models Alliance of Genome Resources
leukocyte adhesion deficiency 1 ITGB2* Itgb2*, Itgb2l 3 models Alliance of Genome Resources
leukocyte adhesion deficiency 3 FERMT3* Fermt3* 1 model Alliance of Genome Resources
leukoencephalopathy with vanishing white matter EIF2B5* Eif2b5* 7 models Alliance of Genome Resources
lysosomal acid lipase deficiency LIPA* Lipa* 1 model Alliance of Genome Resources
Mahvash Disease GCGR* Gcgr* 1 model Alliance of Genome Resources
megaconial type congenital muscular dystrophy CHKB* Chkb* 1 model Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 1 MLC1* Mlc1* 1 model Alliance of Genome Resources
microcephalic osteodysplastic primordial dwarfism type II PCNT* Pcnt* 1 model Alliance of Genome Resources
microphthalmia with limb anomalies SMOC1* Smoc1* 2 models Alliance of Genome Resources
microvillus inclusion disease MYO5B* Myo5b* 2 models Alliance of Genome Resources
mitochondrial DNA depletion syndrome 2 TK2* Tk2* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 5 SUCLA2* Sucla2* 1 model Alliance of Genome Resources
mosaic variegated aneuploidy syndrome 1 BUB1B* Bub1b* 2 models Alliance of Genome Resources
mucosulfatidosis SUMF1* Sumf1* 1 model Alliance of Genome Resources
mulibrey nanism TRIM37* Trim37* 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
myofibrillar myopathy 1 DES* Des* 4 models Alliance of Genome Resources
Nasu-Hakola disease TYROBP* Tyrobp* 2 models Alliance of Genome Resources
nemaline myopathy 10 LMOD3* Lmod3* 2 models Alliance of Genome Resources
nemaline myopathy 11 MYPN* Mypn* 1 model Alliance of Genome Resources
nemaline myopathy 2 NEB* Neb* 4 models Alliance of Genome Resources
nemaline myopathy 3 ACTA1* Acta1* 2 models Alliance of Genome Resources
nemaline myopathy 5A TNNT1* Tnnt1* 1 model Alliance of Genome Resources
nemaline myopathy 8 KLHL40* Klhl40* 1 model Alliance of Genome Resources
neonatal diabetes mellitus with congenital hypothyroidism GLIS3* Glis3* 2 models Alliance of Genome Resources
nephronophthisis 1 NPHP1* Nphp1* 1 model Alliance of Genome Resources
nephronophthisis 2 INVS* Invs* 1 model Alliance of Genome Resources
nephronophthisis 3 NPHP3* Nphp3* 2 models Alliance of Genome Resources
nephronophthisis 4 NPHP4* Nphp4* 1 model Alliance of Genome Resources
nephronophthisis 7 GLIS2* Glis2* 1 model Alliance of Genome Resources
Netherton syndrome SPINK5* Spink5* 5 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a PLA2G6* Pla2g6* 4 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 6 COASY* Coasy* 1 model Alliance of Genome Resources
neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF2* Arhgef2* 1 model 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
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
osteogenesis imperfecta type 10 SERPINH1* Serpinh1* 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
Parkinson's disease 14 PLA2G6* Pla2g6* 1 model Alliance of Genome Resources
Parkinson's disease 2 PRKN* Prkn* 9 models 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
Pendred Syndrome SLC26A4* Slc26a4* 4 models Alliance of Genome Resources
permanent neonatal diabetes mellitus INS* Ins2*, Ins1 1 model 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
PHARC syndrome ABHD12* Abhd12* 1 model Alliance of Genome Resources
Pierson syndrome LAMB2* Lamb2* 2 models Alliance of Genome Resources
platelet-type bleeding disorder 10 CD36* Cd36* 1 model Alliance of Genome Resources
platelet-type bleeding disorder 8 P2RY12* P2ry12* 2 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
primary autosomal recessive microcephaly 2 with or without cortical malformations WDR62* Wdr62* 1 model Alliance of Genome Resources
primary ovarian insufficiency 12 SYCE1* Syce1* 1 model Alliance of Genome Resources
primary ovarian insufficiency 13 MSH5* Msh5* 1 model Alliance of Genome Resources
primary ovarian insufficiency 19 HSF2BP* Hsf2bp* 1 model Alliance of Genome Resources
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
pseudoxanthoma elasticum ABCC6* Abcc6* 2 models Alliance of Genome Resources
purine nucleoside phosphorylase deficiency PNP* Pnp*, Pnp2 5 models Alliance of Genome Resources
pyridoxine-dependent epilepsy ALDH7A1* Aldh7a1* 1 model Alliance of Genome Resources
pyruvate kinase deficiency of red cells PKLR* Pklr* 2 models Alliance of Genome Resources
retinitis pigmentosa 1 RP1* Rp1* 2 models Alliance of Genome Resources
retinitis pigmentosa 12 CRB1* Crb1* 1 model Alliance of Genome Resources
retinitis pigmentosa 14 TULP1* Tulp1* 1 model Alliance of Genome Resources
retinitis pigmentosa 19 ABCA4* Abca4* 2 models Alliance of Genome Resources
retinitis pigmentosa 20 RPE65* Rpe65* 1 model Alliance of Genome Resources
retinitis pigmentosa 26 CERKL* Cerkl* 1 model Alliance of Genome Resources
retinitis pigmentosa 28 FAM161A* Fam161a* 1 model Alliance of Genome Resources
retinitis pigmentosa 4 RHO* Rho* 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
Sandhoff disease HEXB* Hexb* 9 models Alliance of Genome Resources
Schimke immuno-osseous dysplasia SMARCAL1* Smarcal1* 1 model 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
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
Silverman-Handmaker type dyssegmental dysplasia HSPG2* Hspg2* 2 models Alliance of Genome Resources
sitosterolemia ABCG8* Abcg8* 1 model Alliance of Genome Resources
Smith-McCort dysplasia 2 RAB33B* Rab33b* 2 models 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 with axonal neuropathy 1 TDP1* Tdp1* 1 model Alliance of Genome Resources
spondylocarpotarsal synostosis syndrome FLNB* Flnb* 2 models Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Pakistani type PAPSS2* Papss2* 1 model Alliance of Genome Resources
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
thiamine-responsive megaloblastic anemia syndrome SLC19A2* Slc19a2* 2 models Alliance of Genome Resources
Troyer syndrome SPART* Spart* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A3* Col6a3* 1 model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A1* Col6a1* 1 model Alliance of Genome Resources
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
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
Werner syndrome WRN* Wrn* 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
Yunis-Varon syndrome FIG4* Fig4* 1 model Alliance of Genome Resources
Zaki syndrome WLS* Wls* 2 models 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
ARC syndrome VIPAS39 Vipas39* 1 model Alliance of Genome Resources
ARC syndrome VPS33B Vps33b* 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
autosomal recessive Alport syndrome MPV17 Mpv17* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PIGA Piga* 2 models Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B CST6 Cst6* 1 model Alliance of Genome Resources
autosomal recessive congenital ichthyosis 4B PRSS8 Prss8* 1 model Alliance of Genome Resources
autosomal recessive disease PPP1R13L Ppp1r13l* 1 model Alliance of Genome Resources
autosomal recessive hypophosphatemic rickets DMP1 Dmp1* 1 model Alliance of Genome Resources
autosomal recessive intellectual developmental disorder CRBN Crbn* 2 models Alliance of Genome Resources
autosomal recessive nonsyndromic deafness ATP6V1B1 Atp6v1b1* 1 model Alliance of Genome Resources
autosomal recessive osteopetrosis 1 CCDC154 Ccdc154* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease 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 TSC1 Tsc1* 1 model Alliance of Genome Resources
autosomal recessive polycystic kidney disease CYS1 Cys1* 5 models Alliance of Genome Resources
autosomal recessive polycystic kidney disease SCLT1 Sclt1* 1 model 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 pseudohypoaldosteronism type 1 SCNN1B Scnn1b* 1 model Alliance of Genome Resources
autosomal recessive pseudohypoaldosteronism type 1 SCNN1G Scnn1g* 1 model Alliance of Genome Resources
autosomal recessive Robinow syndrome PRICKLE1 Prickle1* 2 models Alliance of Genome Resources
Bardet-Biedl syndrome TBC1D32 Tbc1d32* 1 model Alliance of Genome Resources
beta thalassemia KLF1 Klf1* 1 model Alliance of Genome Resources
Bloom syndrome NSMCE2 Nsmce2* 1 model Alliance of Genome Resources
Canavan disease SOD2 Sod2* 1 model Alliance of Genome Resources
Caroli syndrome PKHD1 Pkhd1* 1 model Alliance of Genome Resources
Charlevoix-Saguenay spastic ataxia ANKFY1 Ankfy1* 1 model Alliance of Genome Resources
common variable immunodeficiency NFKB2 Nfkb2* 3 models Alliance of Genome Resources
common variable immunodeficiency ICOS Icos* 2 models Alliance of Genome Resources
congenital amegakaryocytic thrombocytopenia MPL Mpl* 1 model Alliance of Genome Resources
congenital generalized lipodystrophy type 2 PPARG Pparg* 2 models Alliance of Genome Resources
enhanced S-cone syndrome NRL Nrl* 1 model Alliance of Genome Resources
foveal hypoplasia 2 SLC38A8 Slc38a8* 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 FREM2 Frem2* 6 models Alliance of Genome Resources
Fraser syndrome GRIP1 Grip1* 2 models Alliance of Genome Resources
Gitelman syndrome WNK4 Wnk4* 1 model Alliance of Genome Resources
Gitelman syndrome STK39 Stk39* 3 models Alliance of Genome Resources
glycogen storage disease 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
hereditary spherocytosis type 1 SPTA1 Spta1* 3 models 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
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 KXD1 Kxd1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome BLOC1S4 Bloc1s4* 2 models Alliance of Genome Resources
Hermansky-Pudlak syndrome VPS33A Vps33a* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 1 AP3D1 Ap3d1* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 1 RAB27A Rab27a* 1 model Alliance of Genome Resources
Hermansky-Pudlak syndrome 2 AP3D1 Ap3d1* 1 model Alliance of Genome Resources
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
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 Herlitz type ITGA6 Itga6* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMB3 Lamb3* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMC2 Lamc2* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type LAMA3 Lama3* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type ITGB4 Itgb4* 1 model Alliance of Genome Resources
junctional epidermolysis bullosa non-Herlitz type COL17A1 Col17a1* 1 model 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
microvillus inclusion disease CDC42 Cdc42* 1 model Alliance of Genome Resources
mitochondrial DNA depletion syndrome 3 MPV17 Mpv17* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 LARGE1 Large1* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKTN Fktn* 3 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 FKRP Fkrp* 2 models Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 B4GAT1 B4gat1* 1 model Alliance of Genome Resources
muscular dystrophy-dystroglycanopathy type B1 POMGNT1 Pomgnt1* 1 model Alliance of Genome Resources
myofibrillar myopathy 1 LDB3 Ldb3* 1 model Alliance of Genome Resources
nephronophthisis SDCCAG8 Sdccag8* 1 model Alliance of Genome Resources
nephronophthisis CNTRL Cntrl* 1 model Alliance of Genome Resources
nephronophthisis AHI1 Ahi1* 2 models Alliance of Genome Resources
nephronophthisis WWTR1 Wwtr1* 1 model Alliance of Genome Resources
neurodegeneration with brain iron accumulation 2a inad* 1 model
neurodegeneration with brain iron accumulation 2a nad* 1 model
neurodegeneration with brain iron accumulation 2a gnd* 1 model
neurogenic-type arthrogryposis multiplex congenita-2 pma* 1 model
neuronal ceroid lipofuscinosis 3 CLCN3 Clcn3* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 CLCN6 Clcn6* 1 model Alliance of Genome Resources
neuronal ceroid lipofuscinosis 3 PPT1 Ppt1* 1 model Alliance of Genome Resources
oculocutaneous albinism OCA2 Oca2* 1 model Alliance of Genome Resources
oculocutaneous albinism SLC45A2 Slc45a2* 7 models Alliance of Genome Resources
Pendred Syndrome FOXI1 Foxi1* 1 model Alliance of Genome Resources
Pierson syndrome TNS2 Tns2* 1 model Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa COL7A1 Col7a1* 5 models Alliance of Genome Resources
recessive dystrophic epidermolysis bullosa GRIP1 Grip1* 1 model Alliance of Genome Resources
right atrial isomerism ACVR2B Acvr2b* 1 model Alliance of Genome Resources
right atrial isomerism CFC1, CFC1B Cfc1* 2 models Alliance of Genome Resources
sarcosinemia sar* 1 model
Seckel syndrome ATRIP Atrip* 1 model Alliance of Genome Resources
Seckel syndrome CEP63 Cep63* 1 model Alliance of Genome Resources
Seckel syndrome CENPJ Cenpj* 1 model Alliance of Genome Resources
Seckel syndrome ATR Atr* 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
spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC1A4 Slc1a4* 1 model Alliance of Genome Resources
thalassemia PPP1R15A Ppp1r15a* 1 model Alliance of Genome Resources
Usher syndrome type 2C SLC4A7 Slc4a7* 1 model Alliance of Genome Resources
Walker-Warburg syndrome COL4A1 Col4a1* 1 model Alliance of Genome Resources
XFE progeroid syndrome ERCC1 Ercc1* 1 model Alliance of Genome Resources
Zellweger syndrome PEX1 Pex1* 2 models Alliance of Genome Resources
Zellweger syndrome PEX11B Pex11b* 3 models 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 OBSL1* Obsl1   Alliance of Genome Resources
3-M syndrome CUL7* Cul7   Alliance of Genome Resources
3-M syndrome CCDC8* Ccdc8   Alliance of Genome Resources
46,XY sex reversal 5 CBX2* Cbx2   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
ABCD syndrome EDNRB* Ednrb   Alliance of Genome Resources
abetalipoproteinemia MTTP* Mttp   Alliance of Genome Resources
achondrogenesis type IB SLC26A2* Slc26a2   Alliance of Genome Resources
acrocapitofemoral dysplasia IHH* Ihh   Alliance of Genome Resources
acromesomelic dysplasia-4 PRKG2* Prkg2   Alliance of Genome Resources
adult spinal muscular atrophy SMN1*, SMN2 Smn1   Alliance of Genome Resources
agammaglobulinemia 1 IGHM* Ighm   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 6 CD79B* Cd79b   Alliance of Genome Resources
agammaglobulinemia 7 PIK3R1* Pik3r1   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
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 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
alpha thalassemia GPX1* Gpx1   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 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
amyotrophic lateral sclerosis type 1 PRPH* Prph   Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 DCTN1* Dctn1   Alliance of Genome Resources
amyotrophic lateral sclerosis type 1 NEFH* Nefh   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
anterior segment dysgenesis 2 FOXE3* Foxe3   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
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
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 IL2* Il2   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-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 standstill 2 NPPA* Nppa   Alliance of Genome Resources
autoimmune lymphoproliferative syndrome type 3 PRKCD* Prkcd   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 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 ABHD5* Abhd5   Alliance of Genome Resources
autosomal recessive congenital ichthyosis 1 ALOXE3* Aloxe3   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 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 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 TPR* Tpr   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder CASP2* Casp2   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 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 limb-girdle muscular dystrophy HMGCR* Hmgcr   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy JAG2* Jag2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy LAMA2* Lama2   Alliance of Genome Resources
autosomal recessive limb-girdle muscular dystrophy POMT2* Pomt2   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 BVES* Bves   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 CLRN2* Clrn2   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness GPR156* Gpr156   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness CDH23* Cdh23   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness AFG2B* Afg2b   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness MINAR2* Minar2   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 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 KCNJ10* Kcnj10   Alliance of Genome Resources
autosomal recessive nonsyndromic deafness 4 FOXI1* Foxi1   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 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
axial spondylometaphyseal dysplasia CFAP410* Cfap410   Alliance of Genome Resources
Bardet-Biedl syndrome BBS7* Bbs7   Alliance of Genome Resources
Bardet-Biedl syndrome NPHP1* Nphp1   Alliance of Genome Resources
Bardet-Biedl syndrome BBS2* Bbs2   Alliance of Genome Resources
Bardet-Biedl syndrome BBS5* Bbs5   Alliance of Genome Resources
Bardet-Biedl syndrome TMEM67* Tmem67   Alliance of Genome Resources
Bardet-Biedl syndrome MKS1* Mks1   Alliance of Genome Resources
Bardet-Biedl syndrome MKKS* Mkks   Alliance of Genome Resources
Bardet-Biedl syndrome CCDC28B* Ccdc28b   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 BBS1* Bbs1   Alliance of Genome Resources
Bardet-Biedl syndrome ARL6* Arl6   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 1 ARL6* Arl6   Alliance of Genome Resources
Bardet-Biedl syndrome 1 CCDC28B* Ccdc28b   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 TMEM67* Tmem67   Alliance of Genome Resources
Bardet-Biedl syndrome 14 CEP290* Cep290   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
Behr syndrome OPA1* Opa1   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 GATA1* Gata1   Alliance of Genome Resources
beta thalassemia TNF* Tnf   Alliance of Genome Resources
beta thalassemia HFE* Hfe   Alliance of Genome Resources
beta thalassemia BCL11A* Bcl11a   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
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 parasagittal parieto-occipital polymicrogyria FIG4* Fig4   Alliance of Genome Resources
Bjornstad syndrome BCS1L* Bcs1l   Alliance of Genome Resources
Boucher-Neuhauser syndrome PNPLA6* Pnpla6   Alliance of Genome Resources
bradyopsia 1 RGS9* Rgs9   Alliance of Genome Resources
bradyopsia 2 RGS9BP* Rgs9bp   Alliance of Genome Resources
brain small vessel disease 3 COLGALT1* Colgalt1   Alliance of Genome Resources
brittle cornea syndrome 2 PRDM5* Prdm5   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
camptodactyly-arthropathy-coxa vara-pericarditis syndrome PRG4* Prg4   Alliance of Genome Resources
carboxypeptidase N deficiency CPN1* Cpn1   Alliance of Genome Resources
carnitine-acylcarnitine translocase deficiency SLC25A20* Slc25a20   Alliance of Genome Resources
cartilage-hair hypoplasia RMRP* Rmrp   Alliance of Genome Resources
cataract 11 multiple types PITX3* Pitx3   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 33 BFSP1* Bfsp1   Alliance of Genome Resources
cataract 36 TDRD7* Tdrd7   Alliance of Genome Resources
cataract 38 AGK* Agk   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 48 DNMBP* Dnmbp   Alliance of Genome Resources
cataract 9 multiple types PITX3* Pitx3   Alliance of Genome Resources
centronuclear myopathy 2 BIN1* Bin1   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, mental retardation and dysequlibrium syndrome VLDLR* Vldlr   Alliance of Genome Resources
cerebellar ataxia, mental retardation and dysequlibrium syndrome WDR81* Wdr81   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 2K JPH1* Jph1   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2T MME* Mme   Alliance of Genome Resources
Charcot-Marie-Tooth disease axonal type 2X SPG11* Spg11   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 1F NEFL* Nefl   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 2EE MPV17* Mpv17   Alliance of Genome Resources
Charcot-Marie-Tooth disease type 2R TRIM2* Trim2   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
CHIME syndrome PIGL* Pigl   Alliance of Genome Resources
cholesterol ester storage disease LIPA* Lipa   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
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
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 56 TAMM41* Tamm41   Alliance of Genome Resources
combined oxidative phosphorylation deficiency 57 CRLS1* Crls1   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 IL21R* Il21r   Alliance of Genome Resources
common variable immunodeficiency HLA-DQB1*, HLA-DQB2 H2-Ab1   Alliance of Genome Resources
common variable immunodeficiency DCLRE1C* Dclre1c   Alliance of Genome Resources
common variable immunodeficiency MBL2* Mbl2   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
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 diarrhea 7 with exudative enteropathy DGAT1* Dgat1   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 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 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 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 fibrosis of the extraocular muscles 2 PHOX2A* Phox2a   Alliance of Genome Resources
congenital fibrosis of the extraocular muscles 5 COL25A1* Col25a1   Alliance of Genome Resources
congenital generalized lipodystrophy type 3 CAV1* Cav1   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 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 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 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 4A CHRNE* Chrne 2 models Alliance of Genome Resources
congenital myasthenic syndrome 4B CHRNE* Chrne   Alliance of Genome Resources
congenital myopathy 10B MEGF10* Megf10   Alliance of Genome Resources
congenital myopathy 14 MYL1* Myl1   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 5 TTN* Ttn   Alliance of Genome Resources
congenital myopathy 6 MYH2* Myh2   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 4 TSHB* Tshb   Alliance of Genome Resources
congenital nongoitrous hypothyroidism 7 TRHR* Trhr   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 1C TRPM1* Trpm1   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 sucrase-isomaltase deficiency SI* Sis   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
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 dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 TMCO1* Tmco1   Alliance of Genome Resources
craniolenticulosutural dysplasia SEC23A* Sec23a   Alliance of Genome Resources
cystic fibrosis GSTM1*, GSTM5 Gstm1, Gstm2, Gstm3, Gstm6   Alliance of Genome Resources
cystic fibrosis SERPINA3* Serpina3a, Serpina3b, Serpina3c, Serpina3f, Serpina3g, Serpina3i, Serpina3j, Serpina3k, Serpina3m, Serpina3n   Alliance of Genome Resources
cystic fibrosis TGFB1* Tgfb1   Alliance of Genome Resources
cystic fibrosis TLR5* Tlr5   Alliance of Genome Resources
cystic fibrosis TLR9* Tlr9   Alliance of Genome Resources
cystic fibrosis TNF* Tnf   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 IL1B* Il1b   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 PTX3* Ptx3   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
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
De Sanctis-Cacchione syndrome ERCC6* Ercc6   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 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 110 CACNA2D1* Cacna2d1   Alliance of Genome Resources
developmental and epileptic encephalopathy 12 PLCB1* Plcb1   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 21 NECAP1* Necap1   Alliance of Genome Resources
developmental and epileptic encephalopathy 23 DOCK7* Dock7   Alliance of Genome Resources
developmental and epileptic encephalopathy 25 SLC13A5* Slc13a5   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 31B DNM1* Dnm1   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 37 FRRS1L* Frrs1l   Alliance of Genome Resources
developmental and epileptic encephalopathy 38 ARV1* Arv1   Alliance of Genome Resources
developmental and epileptic encephalopathy 40 GUF1* Guf1   Alliance of Genome Resources
developmental and epileptic encephalopathy 44 UBA5* Uba5   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 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 60 CNPY3* Cnpy3   Alliance of Genome Resources
developmental and epileptic encephalopathy 61 ADAM22* Adam22   Alliance of Genome Resources
developmental and epileptic encephalopathy 63 CPLX1* Cplx1   Alliance of Genome Resources
developmental and epileptic encephalopathy 68 TRAK1* Trak1   Alliance of Genome Resources
developmental and epileptic encephalopathy 71 GLS* Gls   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 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 86 DALRD3* Dalrd3   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 95 PIGS* Pigs   Alliance of Genome Resources
D-glyceric aciduria GLYCTK* Glyctk   Alliance of Genome Resources
dihydropyrimidinase deficiency DPYS* Dpys   Alliance of Genome Resources
dilated cardiomyopathy 1X FKTN* Fktn   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
diphthamide deficiency syndrome 1 DPH1* Dph1   Alliance of Genome Resources
diphthamide deficiency syndrome 2 DPH2* Dph2   Alliance of Genome Resources
distal arthrogryposis type 5D ECEL1* Ecel1   Alliance of Genome Resources
distal myopathy with anterior tibial onset DYSF* Dysf   Alliance of Genome Resources
Donohue syndrome INSR* Insr 2 "NOT" models Alliance of Genome Resources
DOORS syndrome TBC1D24* Tbc1d24   Alliance of Genome Resources
Dyggve-Melchior-Clausen disease DYM* Dym   Alliance of Genome Resources
dystonia 16 PRKRA* Prkra   Alliance of Genome Resources
dystonia 27 COL6A3* Col6a3   Alliance of Genome Resources
dystonia 5 GCH1* Gch1   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
ectodermal dysplasia 10B EDAR* Edar   Alliance of Genome Resources
ectodermal dysplasia 11B EDARADD* Edaradd   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, ectrodactyly, and macular dystrophy syndrome CDH3* Cdh3   Alliance of Genome Resources
ectopia lentis with ectopia of pupil ADAMTSL4* Adamtsl4   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 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 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 IL7* Il7   Alliance of Genome Resources
epidermodysplasia verruciformis CIB1* Cib1   Alliance of Genome Resources
epidermodysplasia verruciformis RHOH* Rhoh   Alliance of Genome Resources
epidermodysplasia verruciformis TMC6* Tmc6   Alliance of Genome Resources
epidermodysplasia verruciformis TMC8* Tmc8   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
essential fructosuria KHK* Khk   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 X deficiency F10* F10   Alliance of Genome Resources
factor XIII deficiency LMAN1* Lman1   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 5 CNTN2* Cntn2   Alliance of Genome Resources
familial apolipoprotein C-II deficiency APOC2* Apoc2, Apoc2l   Alliance of Genome Resources
familial benign fleck retina PLA2G5* Pla2g5   Alliance of Genome Resources
familial GPIHBP1 deficiency GPIHBP1* Gpihbp1   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 8 SLC25A36* Slc25a36   Alliance of Genome Resources
familial hypertryptophanemia TDO2* Tdo2   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 partial lipodystrophy type 5 CIDEC* Cidec   Alliance of Genome Resources
familial partial lipodystrophy type 6 LIPE* Lipe   Alliance of Genome Resources
familial temporal lobe epilepsy 5 CPA6* Cpa6   Alliance of Genome Resources
Fanconi anemia complementation group E FANCE* Fance   Alliance of Genome Resources
Fanconi anemia complementation group I FANCI* Fanci   Alliance of Genome Resources
Fanconi anemia complementation group L FANCL* Fancl   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 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 renotubular syndrome 2 SLC34A1* Slc34a1   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
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
fibrochondrogenesis 1 COL11A1* Col11a1   Alliance of Genome Resources
fibrochondrogenesis 2 COL11A2* Col11a2   Alliance of Genome Resources
Filippi syndrome CKAP2L* Ckap2l   Alliance of Genome Resources
focal segmental glomerulosclerosis 6 MYO1E* Myo1e   Alliance of Genome Resources
focal segmental glomerulosclerosis 9 CRB2* Crb2   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
Friedreich ataxia ND1* mt-Nd1   Alliance of Genome Resources
Friedreich ataxia AGTR1* Agtr1a, Agtr1b   Alliance of Genome Resources
Friedreich ataxia 1 FXN* Fxn   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 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
geroderma osteodysplasticum GORAB* Gorab   Alliance of Genome Resources
Ghosal hematodiaphyseal syndrome TBXAS1* Tbxas1   Alliance of Genome Resources
Gitelman syndrome CLCNKB*, CLCNKA Clcnka, Clcnkb   Alliance of Genome Resources
glucocorticoid deficiency 1 MC2R* Mc2r   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
glycogen storage disease Ib SLC37A4* Slc37a4   Alliance of Genome Resources
glycogen storage disease Ic SLC37A4* Slc37a4   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
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
Harel-Yoon syndrome ATAD3A*, ATAD3B, ATAD3C Atad3a   Alliance of Genome Resources
Heimler syndrome 1 PEX1* Pex1   Alliance of Genome Resources
Heimler syndrome 2 PEX6* Pex6   Alliance of Genome Resources
hemoglobin H disease HBA1*, HBA2* Hba-a1, Hba-a2   Alliance of Genome Resources
Hengel-Maroofian-Schols syndrome BCAS3* Bcas3   Alliance of Genome Resources
hepatic venoocclusive disease with immunodeficiency SP110* Sp110, Sp110-ps1, Sp110-ps2   Alliance of Genome Resources
hereditary angioedema type I SERPING1* Serping1   Alliance of Genome Resources
hereditary arterial and articular multiple calcification syndrome NT5E* Nt5e   Alliance of Genome Resources
hereditary folate malabsorption SLC46A1* Slc46a1   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 8 PRDM12* Prdm12   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 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 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 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 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 79B UCHL1* Uchl1   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 89 AMFR* Amfr   Alliance of Genome Resources
hereditary spastic paraplegia 9B ALDH18A1* Aldh18a1   Alliance of Genome Resources
hereditary spherocytosis type 5 EPB42* Epb42   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS5* Hps5   Alliance of Genome Resources
Hermansky-Pudlak syndrome AP3D1* Ap3d1   Alliance of Genome Resources
Hermansky-Pudlak syndrome AP3B1* Ap3b1   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS4* Hps4   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS6* Hps6   Alliance of Genome Resources
Hermansky-Pudlak syndrome HPS3* Hps3   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
homocystinuria-megaloblastic anemia cblE type MTRR* Mtrr   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
hydroxykynureninuria KYNU* Kynu   Alliance of Genome Resources
hyperekplexia 4 ATAD1* Atad1   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
hypogonadotropic hypogonadism 10 with or without anosmia TAC3* Tac2   Alliance of Genome Resources
hypogonadotropic hypogonadism 18 with or without anosmia IL17RD* Il17rd   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 7 with or without anosmia NSMF* Nsmf   Alliance of Genome Resources
hypogonadotropic hypogonadism 7 with or without anosmia FGFR1* Fgfr1   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 17 AIMP2* Aimp2   Alliance of Genome Resources
hypomyelinating leukodystrophy 18 DEGS1* Degs1, Degs1l   Alliance of Genome Resources
hypomyelinating leukodystrophy 20 CNP* Cnp   Alliance of Genome Resources
hypomyelinating leukodystrophy 21 POLR3K* Polr3k   Alliance of Genome Resources
hypomyelinating leukodystrophy 23 RNF220* Rnf220   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
hypotrichosis 7 LIPH* Liph   Alliance of Genome Resources
hypotrichosis 8 LPAR6* Lpar6   Alliance of Genome Resources
hypotrichosis-lymphedema-telangiectasia syndrome SOX18* Sox18   Alliance of Genome Resources
immunodeficiency 10 STIM1* Stim1   Alliance of Genome Resources
immunodeficiency 11A CARD11* Card11   Alliance of Genome Resources
immunodeficiency 12 MALT1* Malt1   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 22 LCK* Lck   Alliance of Genome Resources
immunodeficiency 23 PGM3* Pgm3   Alliance of Genome Resources
immunodeficiency 24 CTPS1* Ctps1   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 28 IFNGR2* Ifngr2   Alliance of Genome Resources
immunodeficiency 29 IL12B* Il12b   Alliance of Genome Resources
immunodeficiency 30 IL12RB1* Il12rb1   Alliance of Genome Resources
immunodeficiency 31B STAT1* Stat1   Alliance of Genome Resources
immunodeficiency 32B IRF8* Irf8   Alliance of Genome Resources
immunodeficiency 35 TYK2* Tyk2   Alliance of Genome Resources
immunodeficiency 37 BCL10* Bcl10   Alliance of Genome Resources
immunodeficiency 38 ISG15* Isg15   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 48 ZAP70* Zap70   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 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 71 ARPC1B* Arpc1b   Alliance of Genome Resources
immunodeficiency 72 NCKAP1L* Nckap1l   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 CTLA4* Ctla4   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
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 liver failure syndrome 1 LARS1* Lars1   Alliance of Genome Resources
infantile parkinsonism-dystonia 2 SLC18A2* Slc18a2   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 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 cardiac arrhythmia GNB5* Gnb5   Alliance of Genome Resources
intellectual developmental disorder with short stature and behavioral abnormalities IQSEC1* Iqsec1   Alliance of Genome Resources
intermediate spinal muscular atrophy SMN1*, SMN2 Smn1 1 model 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 5 MFRP* Mfrp   Alliance of Genome Resources
isolated microphthalmia 8 ALDH1A3* Aldh1a3   Alliance of Genome Resources
isolated sulfite oxidase deficiency SUOX* Suox   Alliance of Genome Resources
Jackson-Weiss syndrome FGFR1* Fgfr1   Alliance of Genome Resources
Jackson-Weiss syndrome FGFR2* Fgfr2   Alliance of Genome Resources
Jalili syndrome CNNM4* Cnnm4   Alliance of Genome Resources
junctional epidermolysis bullosa with pyloric atresia ITGA6* Itga6   Alliance of Genome Resources
Kahrizi syndrome SRD5A3* Srd5a3   Alliance of Genome Resources
Kanzaki disease NAGA* Naga   Alliance of Genome Resources
Kenny-Caffey syndrome type 1 TBCE* Tbce   Alliance of Genome Resources
keratosis pilaris atrophicans LRP1* Lrp1   Alliance of Genome Resources
Klippel-Feil syndrome 2 MEOX1* Meox1   Alliance of Genome Resources
Klippel-Feil syndrome 4 MYO18B* Myo18b   Alliance of Genome Resources
Larsen-like syndrome B3GAT3 type B3GAT3* B3gat3   Alliance of Genome Resources
Laurence-Moon syndrome PNPLA6* Pnpla6   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
lethal congenital contracture syndrome ZBTB42* Zbtb42   Alliance of Genome Resources
lethal congenital contracture syndrome NEK9* Nek9   Alliance of Genome Resources
lethal congenital contracture syndrome GLDN* Gldn   Alliance of Genome Resources
lethal congenital contracture syndrome DNM2* Dnm2   Alliance of Genome Resources
lethal congenital contracture syndrome ADCY6* Adcy6   Alliance of Genome Resources
lethal congenital contracture syndrome CNTNAP1* Cntnap1   Alliance of Genome Resources
lethal congenital contracture syndrome ADGRG6* Adgrg6   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
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
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
lymphoproliferative syndrome 1 ITK* Itk   Alliance of Genome Resources
lymphoproliferative syndrome 2 CD27* Cd27   Alliance of Genome Resources
mandibuloacral dysplasia type B lipodystrophy ZMPSTE24* Zmpste24   Alliance of Genome Resources
Martsolf syndrome RAB3GAP2* Rab3gap2   Alliance of Genome Resources
McKusick-Kaufman syndrome MKKS* Mkks   Alliance of Genome Resources
Meckel syndrome 13 TMEM107* Tmem107   Alliance of Genome Resources
megalencephalic leukoencephalopathy with subcortical cysts 2A HEPACAM* Hepacam   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 7 CDC45* Cdc45   Alliance of Genome Resources
Meier-Gorlin syndrome 8 MCM5* Mcm5   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
mismatch repair cancer syndrome TAF1B* Taf1b   Alliance of Genome Resources
mismatch repair cancer syndrome TP53* Trp53   Alliance of Genome Resources
mismatch repair cancer syndrome TGFBR2* Tgfbr2   Alliance of Genome Resources
mismatch repair cancer syndrome MSH2* Msh2   Alliance of Genome Resources
mismatch repair cancer syndrome MSH6* Msh6   Alliance of Genome Resources
mismatch repair cancer syndrome PMS2*, PMS2P1, PMS2P2, PMS2P6 Pms2   Alliance of Genome Resources
mismatch repair cancer syndrome POLE* Pole   Alliance of Genome Resources
mismatch repair cancer syndrome TFDP1*, TFDP3 Tfdp1   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 ASTE1* Aste1   Alliance of Genome Resources
mismatch repair cancer syndrome MLH1* Mlh1   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 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 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 trifunctional protein deficiency HADHA* Hadha   Alliance of Genome Resources
mitochondrial trifunctional protein deficiency HADHB* Hadhb   Alliance of Genome Resources
Miyoshi muscular dystrophy 1 DYSF* Dysf   Alliance of Genome Resources
Miyoshi muscular dystrophy 3 ANO5* Ano5   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
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
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 3 PIGT* Pigt   Alliance of Genome Resources
multiple congenital anomalies-hypotonia-seizures syndrome 4 PIGQ* Pigq   Alliance of Genome Resources
multiple epiphyseal dysplasia 4 SLC26A2* Slc26a2   Alliance of Genome Resources
multiple epiphyseal dysplasia 7 CANT1* Cant1   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
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
myofibrillar myopathy 10 SVIL* Svil   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
Native American myopathy STAC3* Stac3   Alliance of Genome Resources
nemaline myopathy 1 TPM3* Tpm3   Alliance of Genome Resources
nemaline myopathy 5B 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
nephronophthisis IQCB1* Iqcb1   Alliance of Genome Resources
nephronophthisis NPHP1* Nphp1   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 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 TRPC6* Trpc6   Alliance of Genome Resources
nephrotic syndrome type 2 PLCE1* Plce1   Alliance of Genome Resources
nephrotic syndrome type 2 PLA2G7* Pla2g7   Alliance of Genome Resources
nephrotic syndrome type 2 NPHS2* Nphs2   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 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
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 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 cerebellar atrophy and motor dysfunction GEMIN5* Gemin5   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 motor and language delay, ocular defects, and brain abnormalities INTS11* Ints11   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
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 6B CLN6* Cln6   Alliance of Genome Resources
neuronal ceroid lipofuscinosis 8 northern epilepsy variant CLN8* Cln8   Alliance of Genome Resources
NGLY1-deficiency NGLY1* Ngly1   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 4 MPLKIP* Mplkip, Mplkipl1   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 6 GTF2E2* Gtf2e2   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 7 TARS1* Tars1   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
Noonan syndrome 2 LZTR1* Lztr1   Alliance of Genome Resources
Norman-Roberts syndrome RELN* Reln   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 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 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
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 MC1R* Mc1r   Alliance of Genome Resources
oculocutaneous albinism type II OCA2* Oca2   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
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
optic atrophy 11 YME1L1* Yme1l1   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
orofaciodigital syndrome IV TCTN3* Tctn3   Alliance of Genome Resources
orofaciodigital syndrome V DDX59* Ddx59   Alliance of Genome Resources
orofaciodigital syndrome XVI TMEM107* Tmem107   Alliance of Genome Resources
orofaciodigital syndrome XVII INTU* Intu   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 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 20 MESD* Mesd   Alliance of Genome Resources
osteogenesis imperfecta type 21 KDELR2* Kdelr2   Alliance of Genome Resources
osteosclerotic metaphyseal dysplasia LRRK1* Lrrk1   Alliance of Genome Resources
otulipenia OTULIN* Otulin   Alliance of Genome Resources
ovarian dysgenesis 1 FSHR* Fshr   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
oxoglutarate dehydrogenase deficiency OGDH* Ogdh   Alliance of Genome Resources
Paget's disease of bone 5 TNFRSF11B* Tnfrsf11b   Alliance of Genome Resources
pantothenate kinase-associated neurodegeneration PANK2* Pank2 1 "NOT" model Alliance of Genome Resources
Papillon-Lefevre disease CTSC* Ctsc   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 23 VPS13C* Vps13c   Alliance of Genome Resources
Parkinson's disease 25 PTPA* Ptpa   Alliance of Genome Resources
peeling skin syndrome TGM5* Tgm5   Alliance of Genome Resources
peeling skin syndrome SERPINB8* Serpinb8   Alliance of Genome Resources
peeling skin syndrome CDSN* Cdsn   Alliance of Genome Resources
peeling skin syndrome FLG2* Flg2   Alliance of Genome Resources
peeling skin syndrome CHST8* Chst8   Alliance of Genome Resources
peeling skin syndrome CSTA* Csta1, Csta2, Csta3, Cstdc3, Cstdc4, Cstdc5, Cstdc6, Stfa1, Stfa2, Stfa2l1, Stfa3   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 KCNJ11* Kcnj11 3 models Alliance of Genome Resources
permanent neonatal diabetes mellitus GCK* Gck   Alliance of Genome Resources
peroxisome biogenesis disorder 14B PEX11B* Pex11b   Alliance of Genome Resources
peroxisome biogenesis disorder 1B PEX1* Pex1   Alliance of Genome Resources
peroxisome biogenesis disorder 2B PEX5* Pex5   Alliance of Genome Resources
peroxisome biogenesis disorder 3B PEX12* Pex12   Alliance of Genome Resources
Perrault syndrome TWNK* Twnk   Alliance of Genome Resources
Perrault syndrome LARS2* Lars2   Alliance of Genome Resources
Perrault syndrome HARS2* Hars2   Alliance of Genome Resources
Perrault syndrome HSD17B4* Hsd17b4   Alliance of Genome Resources
Perrault syndrome 6 ERAL1* Eral1   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
Pitt-Hopkins-like syndrome 2 NRXN1* Nrxn1   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 18 RASGRP2* Rasgrp2   Alliance of Genome Resources
platelet-type bleeding disorder 19 PRKACG*  
poikiloderma with neutropenia USB1* Usb1   Alliance of Genome Resources
polycystic kidney disease 5 DZIP1L* Dzip1l   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
postaxial acrofacial dysostosis DHODH* Dhodh   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPH* Ncaph   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD2* Ncapd2   Alliance of Genome Resources
primary autosomal recessive microcephaly WDR62* Wdr62   Alliance of Genome Resources
primary autosomal recessive microcephaly NUP37* Nup37   Alliance of Genome Resources
primary autosomal recessive microcephaly PDCD6IP* Pdcd6ip   Alliance of Genome Resources
primary autosomal recessive microcephaly RRP7A*, RRP7BP Rrp7a   Alliance of Genome Resources
primary autosomal recessive microcephaly TRAPPC14* Trappc14   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 CENPJ* Cenpj   Alliance of Genome Resources
primary autosomal recessive microcephaly BUB1* Bub1   Alliance of Genome Resources
primary autosomal recessive microcephaly MCPH1* Mcph1   Alliance of Genome Resources
primary autosomal recessive microcephaly ASPM* Aspm   Alliance of Genome Resources
primary autosomal recessive microcephaly NCAPD3* Ncapd3   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 CENPJ* Cenpj   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 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 44 NEK10* Nek10   Alliance of Genome Resources
primary ciliary dyskinesia 45 TTC12* Ttc12   Alliance of Genome Resources
primary coenzyme Q10 deficiency 9 COQ5* Coq5   Alliance of Genome Resources
primary ovarian insufficiency 10 MCM8* Mcm8   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 18 C14orf39* 4930447C04Rik   Alliance of Genome Resources
primary ovarian insufficiency 8 STAG3* Stag3   Alliance of Genome Resources
primary ovarian insufficiency 9 HFM1* Hfm1   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 8 CERS1* Cers1   Alliance of Genome Resources
progressive myoclonus epilepsy 9 LMNB2* Lmnb2   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
proteasome-associated autoinflammatory syndrome 3 PSMB9* Psmb9   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
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 XYLT1* Xylt1   Alliance of Genome Resources
pseudoxanthoma elasticum VEGFA* Vegfa   Alliance of Genome Resources
pseudoxanthoma elasticum SOD2* Sod2   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
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
restrictive dermopathy 1 ZMPSTE24* Zmpste24   Alliance of Genome Resources
reticular dysgenesis AK2* Ak2   Alliance of Genome Resources
retinal cone dystrophy 3B KCNV2* Kcnv2   Alliance of Genome Resources
retinal dystrophy with leukodystrophy ACBD5* Acbd5   Alliance of Genome Resources
retinitis pigmentosa 25 EYS*  
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 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 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 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 84 DHX38* Dhx38   Alliance of Genome Resources
retinitis pigmentosa 85 AHR* Ahr   Alliance of Genome Resources
retinitis pigmentosa 88 RP1L1* Rp1l1   Alliance of Genome Resources
retinitis pigmentosa 90 IDH3A* Idh3a   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
Ritscher-Schinzel syndrome 1 WASHC5* Washc5   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
Ruijs-Aalfs syndrome SPRTN* Sprtn   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
Schindler disease type 1 NAGA* Naga   Alliance of Genome Resources
Schinzel type phocomelia WNT7A* Wnt7a   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 CENPJ* Cenpj   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
Sengers syndrome AGK* Agk   Alliance of Genome Resources
Senior-Loken syndrome SDCCAG8* Sdccag8   Alliance of Genome Resources
Senior-Loken syndrome IQCB1* Iqcb1   Alliance of Genome Resources
Senior-Loken syndrome WDR19* Wdr19   Alliance of Genome Resources
Senior-Loken syndrome CEP290* Cep290   Alliance of Genome Resources
Senior-Loken syndrome TRAF3IP1* Traf3ip1   Alliance of Genome Resources
Senior-Loken syndrome NPHP1* Nphp1   Alliance of Genome Resources
Senior-Loken syndrome NPHP4* Nphp4   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 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
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 SCUBE3* Scube3   Alliance of Genome Resources
short stature, hearing loss, retinitis pigmentosa, and distinctive facies EXOSC2* Exosc2   Alliance of Genome Resources
sickle cell anemia GSTT1* Gstt1   Alliance of Genome Resources
sickle cell anemia C3* C3   Alliance of Genome Resources
sickle cell anemia BCL11A* Bcl11a   Alliance of Genome Resources
sickle cell anemia NOS3* Nos3   Alliance of Genome Resources
sickle cell anemia CFB* Cfb   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 APOB* Apob   Alliance of Genome Resources
sickle cell anemia ALAD* Alad   Alliance of Genome Resources
sickle cell anemia MTHFR* Mthfr   Alliance of Genome Resources
sickle cell anemia GCH1* Gch1   Alliance of Genome Resources
sickle cell anemia HMBS* Hmbs   Alliance of Genome Resources
sickle cell anemia HBE1*, HBG2*, HBG1 Hbb-bh0, Hbb-bh1, Hbb-y   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 GPX1* Gpx1   Alliance of Genome Resources
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay TRNT1* Trnt1   Alliance of Genome Resources
sitosterolemia 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
Sotos syndrome 3 APC2* Apc2   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
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 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 30 TDRD9* Tdrd9   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 37 TTC21A* Ttc21a   Alliance of Genome Resources
spermatogenic failure 38 ARMC2* Armc2   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 7 CATSPER1* Catsper1   Alliance of Genome Resources
spermatogenic failure 9 DPY19L2*, DPY19L2P1, DPY19L2P2 Dpy19l2   Alliance of Genome Resources
spinal muscular atrophy with progressive myoclonic epilepsy ASAH1* Asah1   Alliance of Genome Resources
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 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 6 RIPPLY2* Ripply2   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Genevieve-type NANS* Nans   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia, Sponastrime type TONSL* Tonsl   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 1 B3GALT6* B3galt6   Alliance of Genome Resources
spondyloepimetaphyseal dysplasia with joint laxity type 3 EXOC6B* Exoc6b   Alliance of Genome Resources
spondyloepiphyseal dysplasia Kondo-Fu type MBTPS1* Mbtps1   Alliance of Genome Resources
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis NMNAT1* Nmnat1   Alliance of Genome Resources
spondylometaepiphyseal dysplasia, short limb-hand type DDR2* Ddr2   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
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ADPRS* Adprs   Alliance of Genome Resources
syndromic microphthalmia 9 STRA6* Stra6   Alliance of Genome Resources
TANGO2-related metabolic encephalopathy and arrythmias TANGO2* Tango2   Alliance of Genome Resources
temtamy preaxial brachydactyly syndrome CHSY1* Chsy1   Alliance of Genome Resources
Temtamy syndrome C12orf57* Grcc10   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
thrombocytopenia-absent radius syndrome RBM8A* Rbm8a, Rbm8a2   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
torsion dystonia 2 HPCA* Hpca   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 2 POLR1D* Polr1d   Alliance of Genome Resources
Treacher Collins syndrome 3 POLR1C* Polr1c   Alliance of Genome Resources
trichohepatoenteric syndrome 1 SKIC3* Skic3   Alliance of Genome Resources
trichohepatoenteric syndrome 2 SKIC2* Skic2   Alliance of Genome Resources
trimethylaminuria FMO3* Fmo3   Alliance of Genome Resources
triple-A syndrome AAAS* Aaas 1 "NOT" model Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL6A2* Col6a2   Alliance of Genome Resources
Ullrich congenital muscular dystrophy COL12A1* Col12a1   Alliance of Genome Resources
urocanase deficiency UROC1* Uroc1   Alliance of Genome Resources
urofacial syndrome LRIG2* Lrig2   Alliance of Genome Resources
Usher syndrome USH2A* Ush2a   Alliance of Genome Resources
Usher syndrome USH1C* Ush1c   Alliance of Genome Resources
Usher syndrome ARSG* Arsg   Alliance of Genome Resources
Usher syndrome MYO7A* Myo7a   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
UV-sensitive syndrome UVSSA* Uvssa   Alliance of Genome Resources
UV-sensitive syndrome ERCC6* Ercc6   Alliance of Genome Resources
UV-sensitive syndrome ERCC8* Ercc8   Alliance of Genome Resources
Van den Ende-Gupta syndrome SCARF2* Scarf2   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
Vici syndrome EPG5* Epg5   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
Walker-Warburg syndrome POMT1* Pomt1   Alliance of Genome Resources
Walker-Warburg syndrome POMT2* Pomt2   Alliance of Genome Resources
Walker-Warburg syndrome FKTN* Fktn   Alliance of Genome Resources
Walker-Warburg syndrome FKRP* Fkrp   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
Werner syndrome LMNA* Lmna   Alliance of Genome Resources
Wiedemann-Rautenstrauch syndrome POLR3A* Polr3a   Alliance of Genome Resources
Wolfram syndrome 2 CISD2* Cisd2 1 model Alliance of Genome Resources
Woodhouse-Sakati syndrome DCAF17* Dcaf17   Alliance of Genome Resources
wrinkly skin syndrome ATP6V0A2* Atp6v0a2   Alliance of Genome Resources
xanthinuria type I XDH* Xdh   Alliance of Genome Resources
xeroderma pigmentosum ERCC2* Ercc2   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
XFE progeroid syndrome ERCC4* Ercc4   Alliance of Genome Resources
X-linked keratosis follicularis spinulosa decalvans MBTPS2* Mbtps2   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

 
Transgenes and other genome features developed in mice to model this disease.
     Disease Term Transgenes and Other Genome Features Mouse Models
  alpha thalassemia Hba 8 models
  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*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
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R/EYFP)641Alho 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G85R/EYFP)737Alho 1 model
  amyotrophic lateral sclerosis type 1 Tg(Sod1*G86R)M1Jwg 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)1Gur 6 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)2Gur 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G93A)dl1Gur 2 models
  amyotrophic lateral sclerosis type 1 Tg(SOD1*G127X)716Mrkl 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)#Maw 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)IAra 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R)LAra 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R*H48Q)58Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*H46R*H48Q)139Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*L126Z)45Dbo 1 model
  amyotrophic lateral sclerosis type 1 Tg(SOD1*L126Z)#Deng 2 models
  amyotrophic lateral sclerosis type 1 Tg(Thy1-DCTN1*G59S)M2Pcw 1 model
  amyotrophic lateral sclerosis type 1 Tg(Thy1-Sncg)HvP36Putt 1 model
  amyotrophic lateral sclerosis type 1 Tg(Thy1-SOD1*G93A)T3Hgrd 2 models
  atrichia with papular lesions Tg(K6ODCtr)55Tgo 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 Tg(Pkd1)26Mtru 1 model
  autosomal recessive polycystic kidney disease T(2;10)67Gso 1 model
  beta thalassemia Rr320 2 models
  beta thalassemia Hbb 6 models
  cataract 19 multiple types Tg(Lim2*G15V)1Rlc 2 models
  Charcot-Marie-Tooth disease type 3 Tg(Mpz*S63C)33Mes 1 model
  Charcot-Marie-Tooth disease type 3 Tg(Mpz*S63C)32Mes 1 model
  congenital generalized lipodystrophy type 2 Tg(aP2-SREBF1c)9884Reh 1 model
  congenital myasthenic syndrome 4A Tg(Ckm-Chrne*L269F)5Cgz 1 model
  cystic fibrosis Tg(Scgb1a1-Scnn1b)6608Bouc 1 model
  hyperekplexia 1 Tg(Thy1-GLRA1*R271Q)382Wha 1 model
  hyperekplexia 1 Tg(Thy1-GLRA1*R271Q)300Wha 1 model
  Lafora disease Tg(CAG-EPM2A*C266S)1Bmin 1 model
  leukoencephalopathy with vanishing white matter Tg(Plp1-Eif2ak3*)18Pop 1 model
  myofibrillar myopathy 1 Tg(Myh6-Des*)641Rbns 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
  Parkinson's disease 2 Tg(Slc6a3-PARK2*Q311X)AXwy 1 model
  retinitis pigmentosa 4 Tg(RHO-P23H)DTpd 1 model
  retinitis pigmentosa 4 Tg(RHO*P347S)A1Tili 3 models
  retinitis pigmentosa 4 Tg(Rho)1Wbae 1 model
  SOST-related sclerosing bone dysplasia Tg(RP11-209M4)AGglo 2 models
  SOST-related sclerosing bone dysplasia Rr20 1 model
  Werner syndrome Tg(CAG-WRN*K577M)5025Wcl 1 model
  xeroderma pigmentosum Tg(KRT5-Terf2)PMBlas 1 model
  xeroderma pigmentosum Tg(KRT5-Terf2)POBlas 1 model