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
     acrocallosal syndrome KIF7* Kif7* 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
dyskeratosis congenita DKC1* Dkc1* 3 models Alliance of Genome Resources
hereditary coproporphyria CPOX* Cpox* 2 models Alliance of Genome Resources
hereditary hypophosphatemic rickets with hypercalciuria SLC34A1* Slc34a1* 2 models Alliance of Genome Resources
long QT syndrome 1 KCNQ1* Kcnq1* 1 model Alliance of Genome Resources
long QT syndrome 3 SCN5A* Scn5a* 4 models Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblC MMACHC* Mmachc* 1 model Alliance of Genome Resources
Parkinson's disease 6 PINK1* Pink1* 4 models Alliance of Genome Resources
primary pulmonary hypertension BMPR2* Bmpr2* 4 models Alliance of Genome Resources
primary pulmonary hypertension SMAD9* Smad9* 1 model Alliance of Genome Resources
retinitis pigmentosa 7 PRPH2* Prph2* 3 models Alliance of Genome Resources
short-rib thoracic dysplasia 7 with or without polydactyly WDR35* Wdr35* 1 model Alliance of Genome Resources
spinocerebellar ataxia 17 TBP* Tbp* 1 model Alliance of Genome Resources
Usher syndrome type 1D CDH23* Cdh23* 11 models Alliance of Genome Resources
Usher syndrome type 2C ADGRV1* Adgrv1* 3 models Alliance of Genome Resources
Waardenburg syndrome type 2A MITF* Mitf* 14 models Alliance of Genome Resources
     dyskeratosis congenita TP53 Trp53* 1 model Alliance of Genome Resources
dyskeratosis congenita TINF2 Tinf2* 1 model Alliance of Genome Resources
dyskeratosis congenita TEN1 Ten1* 1 model Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblC THAP11 Thap11* 1 model Alliance of Genome Resources
ocular albinism with sensorineural deafness MITF Mitf* 14 models Alliance of Genome Resources
primary pulmonary hypertension PPARG Pparg* 1 model Alliance of Genome Resources
primary pulmonary hypertension ADORA2A Adora2a* 1 model Alliance of Genome Resources
primary pulmonary hypertension TNFSF4 Tnfsf4* 1 model Alliance of Genome Resources
primary pulmonary hypertension VIP Vip* 1 model Alliance of Genome Resources
Usher syndrome type 2C SLC4A7 Slc4a7* 1 model Alliance of Genome Resources
     AMED syndrome ADH5* Adh5   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 1 TERC*  
autosomal dominant dyskeratosis congenita 2 TERT* Tert   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 3 TINF2* Tinf2   Alliance of Genome Resources
autosomal dominant dyskeratosis congenita 6 ACD* Acd   Alliance of Genome Resources
autosomal 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 nonsyndromic deafness 1A GJB3* Gjb3   Alliance of Genome Resources
craniosynostosis 7 SMAD6* Smad6   Alliance of Genome Resources
digenic dyskeratosis congenita TYMS* Tyms   Alliance of Genome Resources
dyskeratosis congenita DCLRE1B* Dclre1b   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 2 SMCHD1* Smchd1   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 3 LRIF1* Lrif1   Alliance of Genome Resources
facioscapulohumeral muscular dystrophy 4 DNMT3B* Dnmt3b   Alliance of Genome Resources
hereditary hypophosphatemic rickets with hypercalciuria SLC34A3* Slc34a3 1 model Alliance of Genome Resources
iminoglycinuria SLC36A2* Slc36a2   Alliance of Genome Resources
Joubert syndrome 15 CEP41* Cep41   Alliance of Genome Resources
Joubert syndrome 9 CC2D2A* Cc2d2a   Alliance of Genome Resources
long QT syndrome 2 KCNH2* Kcnh2   Alliance of Genome Resources
long QT syndrome 2 ALG10B*, ALG10 Alg10   Alliance of Genome Resources
long QT syndrome 5 KCNE1* Kcne1   Alliance of Genome Resources
long QT syndrome 6 KCNE2* Kcne2   Alliance of Genome Resources
long QT syndrome 9 CAV3* Cav3   Alliance of Genome Resources
methylmalonic aciduria and homocystinuria type cblC PRDX1* Prdx1   Alliance of Genome Resources
oculocutaneous albinism type IB TYR* Tyr   Alliance of Genome Resources
primary pulmonary hypertension ATP13A3* Atp13a3   Alliance of Genome Resources
primary pulmonary hypertension CAV1* Cav1   Alliance of Genome Resources
primary pulmonary hypertension KCNK3* Kcnk3   Alliance of Genome Resources
primary pulmonary hypertension PTGIS* Ptgis   Alliance of Genome Resources
primary pulmonary hypertension RYR1* Ryr1   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
retinitis pigmentosa 7 ROM1* Rom1   Alliance of Genome Resources
Revesz syndrome TINF2* Tinf2   Alliance of Genome Resources
Usher syndrome type 1D PCDH15* Pcdh15   Alliance of Genome Resources
Usher syndrome type 2C PDZD7* Pdzd7   Alliance of Genome Resources
X-linked dyskeratosis congenita DKC1* Dkc1   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
  autosomal recessive nonsyndromic deafness 1A Del(14Gjb6-Cryl1)1Lmon 1 model
  long QT syndrome 1 Tg(Myh6-KCNQ1_i2)H05Desc 1 model
  long QT syndrome 1 Tg(Myh6-KCNQ1_i2)H02Desc 1 model
  primary pulmonary hypertension Tg(Lck-Tnfsf4)1Nish 1 model
  primary pulmonary hypertension Tg(Scgb1a1-IL6)9Flv 1 model
  primary pulmonary hypertension Tg(Tagln-SLC6A4)#Edd 1 model
  primary pulmonary hypertension Tg(tetO-Bmpr2*R899X)#Jwst 1 model
  primary pulmonary hypertension Tg(tetO-BMPR2*T504)1Jwst 1 model
  spinocerebellar ataxia 17 Tg(Pcp2-TBP*)69Hmhl 1 model
  spinocerebellar ataxia 17 Tg(Prnp-TBP*)71-16Xjl 1 model
  spinocerebellar ataxia 17 Tg(Prnp-TBP*)71-27Xjl 1 model
  spinocerebellar ataxia 17 Tg(Prnp-TBP*)105Xjl 1 model