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
     alpha thalassemia-X-linked intellectual disability syndrome ATRX* Atrx* 3 models Alliance of Genome Resources
amelogenesis imperfecta type 1E AMELX*, AMELY Amelx* 6 models Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked dominant 1 GJB1* Gjb1* 4 models Alliance of Genome Resources
Christianson syndrome SLC9A6* Slc9a6* 3 models Alliance of Genome Resources
Coffin-Lowry syndrome RPS6KA3* Rps6ka3* 5 models Alliance of Genome Resources
Cornelia de Lange syndrome 5 HDAC8* Hdac8* 1 model Alliance of Genome Resources
craniofrontonasal syndrome EFNB1* Efnb1* 1 model Alliance of Genome Resources
Danon disease LAMP2* Lamp2* 3 models Alliance of Genome Resources
developmental and epileptic encephalopathy 2 CDKL5* Cdkl5* 2 models Alliance of Genome Resources
focal dermal hypoplasia PORCN* Porcn* 14 models Alliance of Genome Resources
fragile X syndrome FMR1* Fmr1* 10 models Alliance of Genome Resources
Nance-Horan syndrome NHS* Nhs* 3 models Alliance of Genome Resources
neurodegeneration with brain iron accumulation 5 WDR45* Wdr45* 2 models Alliance of Genome Resources
non-syndromic X-linked intellectual disability 98 NEXMIF* Nexmif* 1 model Alliance of Genome Resources
orofaciodigital syndrome I OFD1* Ofd1* 2 models Alliance of Genome Resources
syndromic microphthalmia 2 BCOR*, BCORP1 Bcor* 1 model Alliance of Genome Resources
X-linked Alport syndrome COL4A5* Col4a5* 3 models Alliance of Genome Resources
X-linked dominant hypophosphatemic rickets PHEX* Phex* 20 models Alliance of Genome Resources
     X-linked dominant hypophosphatemic rickets Gy* 1 model
     46,XX sex reversal 1 SRY* Sry   Alliance of Genome Resources
Charcot-Marie-Tooth disease X-linked dominant 6 PDK3* Pdk3   Alliance of Genome Resources
CHILD syndrome NSDHL* Nsdhl   Alliance of Genome Resources
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia HDAC6* Hdac6   Alliance of Genome Resources
congenital disorder of glycosylation type IIm SLC35A2* Slc35a2   Alliance of Genome Resources
Cornelia de Lange syndrome 2 SMC1A* Smc1a   Alliance of Genome Resources
deafness, dystonia, and cerebral hypomyelination BCAP31* Bcap31   Alliance of Genome Resources
developmental and epileptic encephalopathy 36 ALG13* Alg13   Alliance of Genome Resources
developmental and epileptic encephalopathy 85 SMC1A* Smc1a   Alliance of Genome Resources
developmental and epileptic encephalopathy 9 PCDH19* Pcdh19   Alliance of Genome Resources
female-restricted syndromic X-linked intellectual disability 99 USP9X* Usp9x   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 1 HCCS* Hccs   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 2 COX7B* Cox7b   Alliance of Genome Resources
linear skin defects with multiple congenital anomalies 3 NDUFB11* Ndufb11, Ndufb11b   Alliance of Genome Resources
nonphotosensitive trichothiodystrophy 5 RNF113A* Rnf113a1, Rnf113a2   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 1 IQSEC2* Iqsec2   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 107 STEEP1* Steep1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 19 RPS6KA3* Rps6ka3   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 41 GDI1* Gdi1   Alliance of Genome Resources
non-syndromic X-linked intellectual disability 63 ACSL4* Acsl4   Alliance of Genome Resources
otopalatodigital syndrome type 1 FLNA* Flna   Alliance of Genome Resources
otopalatodigital syndrome type 2 FLNA* Flna   Alliance of Genome Resources
primary ovarian insufficiency 2A DIAPH2* Diaph2   Alliance of Genome Resources
Raynaud-Claes syndrome CLCN4* Clcn4   Alliance of Genome Resources
reducing body myopathy 1A FHL1* Fhl1   Alliance of Genome Resources
X-linked chondrodysplasia punctata 2 EBP* Ebp   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
  amelogenesis imperfecta type 1E Tg(AMELX*P70T)2Gibs 2 models
  X-linked dominant hypophosphatemic rickets Tg(APOE-FGF23*R176Q)#Ack 1 model
  X-linked dominant hypophosphatemic rickets Tg(Col1a1-FGF2*,-Sapphire)203Mmh 1 model