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
     Borjeson-Forssman-Lehmann syndrome PHF6* Phf6* 2 models Alliance of Genome Resources
Christianson syndrome SLC9A6* Slc9a6* 3 models Alliance of Genome Resources
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MAST1* Mast1* 1 model Alliance of Genome Resources
neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF2* Arhgef2* 1 model Alliance of Genome Resources
Renpenning syndrome PQBP1* Pqbp1* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability 5 AP1S2* Ap1s2* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Claes-Jensen type KDM5C* Kdm5c* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Raymond type ZDHHC9* Zdhhc9* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability Siderius type PHF8* Phf8*, Phf8-ps 1 model Alliance of Genome Resources
     syndromic intellectual disability BRPF1 Brpf1* 2 models Alliance of Genome Resources
syndromic intellectual disability OPHN1 Ophn1* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability ARX Arx* 1 model Alliance of Genome Resources
syndromic X-linked intellectual disability RAB39B Rab39b* 1 model Alliance of Genome Resources
     Armfield syndrome FAM50A* Fam50a   Alliance of Genome Resources
Arts syndrome PRPS1* Prps1, Prps1l3   Alliance of Genome Resources
autosomal dominant mental retardation 55 NUS1* Nus1   Alliance of Genome Resources
autosomal dominant mental retardation 56 CLTC* Cltc   Alliance of Genome Resources
autosomal recessive intellectual developmental disorder-72 METTL5* Mettl5   Alliance of Genome Resources
Basilicata-Akhtar syndrome MSL3*, MSL3P1 Msl3, Msl3l2   Alliance of Genome Resources
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome IGBP1* Igbp1, Igbp1b   Alliance of Genome Resources
developmental delay and seizures with or without movement abnormalities DHDDS* Dhdds   Alliance of Genome Resources
female-restricted syndromic X-linked intellectual disability 99 USP9X* Usp9x   Alliance of Genome Resources
intellectual disability-severe speech delay-mild dysmorphism syndrome FOXP1* Foxp1   Alliance of Genome Resources
Kaufman oculocerebrofacial syndrome UBE3B* Ube3b   Alliance of Genome Resources
MEHMO syndrome EIF2S3*, EIF2S3B Eif2s3x, Eif2s3y   Alliance of Genome Resources
Miles-Carpenter syndrome ZC4H2* Zc4h2   Alliance of Genome Resources
Mullegama-Klein-Martinez syndrome STAG2* Stag2   Alliance of Genome Resources
Paganini-Miozzo syndrome HS6ST2* Hs6st2   Alliance of Genome Resources
Partington syndrome ARX* Arx   Alliance of Genome Resources
Pitt-Hopkins-like syndrome 2 NRXN1* Nrxn1   Alliance of Genome Resources
Raynaud-Claes syndrome CLCN4* Clcn4   Alliance of Genome Resources
Stocco Dos Santos type X-linked intellectual disability SHROOM4* Shroom4   Alliance of Genome Resources
syndromic X-linked intellectual disability 14 UPF3B* Upf3b   Alliance of Genome Resources
syndromic X-linked intellectual disability 34 NONO* Nono   Alliance of Genome Resources
syndromic X-linked intellectual disability 94 GRIA3* Gria3   Alliance of Genome Resources
syndromic X-linked intellectual disability Cabezas type CUL4B* Cul4b   Alliance of Genome Resources
syndromic X-linked intellectual disability Hedera type ATP6AP2* Atp6ap2   Alliance of Genome Resources
syndromic X-linked intellectual disability Lubs type MECP2* Mecp2 4 models Alliance of Genome Resources
syndromic X-linked intellectual disability Najm type CASK* Cask   Alliance of Genome Resources
syndromic X-linked intellectual disability Nascimento type UBE2A* Ube2a   Alliance of Genome Resources
syndromic X-linked intellectual disability Shashi type RBMX* Rbmx   Alliance of Genome Resources
syndromic X-linked intellectual disability Snyder type SMS* Sms, Sms-ps   Alliance of Genome Resources
syndromic X-linked intellectual disability Turner type HUWE1* Huwe1   Alliance of Genome Resources
syndromic X-linked intellectual disability type 10 HSD17B10* Hsd17b10   Alliance of Genome Resources
syndromic X-linked intellectual disorder Lujan-Fryns-type MED12* Med12   Alliance of Genome Resources
syndromic X-linked mental retardation 35 RPL10* Rpl10   Alliance of Genome Resources
syndromic X-linked mental retardation Hough type CNKSR2* Cnksr2   Alliance of Genome Resources
Tonne-Kalscheuer syndrome RLIM* Rlim   Alliance of Genome Resources
Van Esch-O'Driscoll syndrome POLA1* Pola1   Alliance of Genome Resources
Wilson-Turner syndrome LAS1L* Las1l   Alliance of Genome Resources
X-linked intellectual developmental disorder 108 SLC9A7* Slc9a7   Alliance of Genome Resources
X-linked intellectual developmental disorder 109 AFF2* Aff2   Alliance of Genome Resources
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome CLIC2*  
X-linked intellectual disability-psychosis-macroorchidism syndrome MECP2* Mecp2   Alliance of Genome Resources
X-linked intellectual disability-short stature-overweight syndrome THOC2* Thoc2, Thoc2l   Alliance of Genome Resources
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance OPHN1* Ophn1   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
  syndromic intellectual disability Del(17Abcg1-Rrp1b)5Yey 1 model
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)1Hzo 2 models
  syndromic X-linked intellectual disability Lubs type Tg(MECP2)3Hzo 1 model