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
     DiGeorge syndrome TBX1* Tbx1* 24 models Alliance of Genome Resources
hypoparathyroidism-deafness-renal disease syndrome GATA3* Gata3* 2 models Alliance of Genome Resources
Kleefstra syndrome 1 EHMT1* Ehmt1* 2 models Alliance of Genome Resources
Phelan-McDermid syndrome SHANK3* Shank3* 4 models Alliance of Genome Resources
Rubinstein-Taybi syndrome CREBBP* Crebbp* 4 models Alliance of Genome Resources
Smith-Magenis syndrome RAI1* Rai1* 5 models Alliance of Genome Resources
velocardiofacial syndrome TBX1* Tbx1* 6 models Alliance of Genome Resources
Williams-Beuren syndrome EIF4H* Eif4h* 3 models Alliance of Genome Resources
     chromosome 10q23 deletion syndrome BMPR1A Bmpr1a* 1 model Alliance of Genome Resources
chromosome 15q13.3 microdeletion syndrome OTUD7A Otud7a* 3 models Alliance of Genome Resources
chromosome 1p36 deletion syndrome KCNAB2 Kcnab2* 1 model Alliance of Genome Resources
chromosome 1p36 deletion syndrome CASZ1 Casz1* 1 model Alliance of Genome Resources
chromosome 1q41-q42 deletion syndrome TP53BP2 Trp53bp2* 3 models Alliance of Genome Resources
chromosome 9p deletion syndrome FREM1 Frem1* 2 models Alliance of Genome Resources
DiGeorge syndrome TGFBR2 Tgfbr2* 1 model Alliance of Genome Resources
DiGeorge syndrome ALDH1A2 Aldh1a2* 1 model Alliance of Genome Resources
DiGeorge syndrome b2b954Clo* 1 model
DiGeorge syndrome b2b1941Clo* 1 model
DiGeorge syndrome b2b2696Clo* 1 model
DiGeorge syndrome CHRD Chrd* 1 model Alliance of Genome Resources
DiGeorge syndrome CRKL Crkl* 1 model Alliance of Genome Resources
DiGeorge syndrome DICER1 Dicer1* 1 model Alliance of Genome Resources
DiGeorge syndrome DOCK1 Dock1* 1 model Alliance of Genome Resources
DiGeorge syndrome FGF8 Fgf8* 1 model Alliance of Genome Resources
DiGeorge syndrome FOXN1 Foxn1* 1 model Alliance of Genome Resources
DiGeorge syndrome HOXA3 Hoxa3* 1 model Alliance of Genome Resources
DiGeorge syndrome KAT6A Kat6a* 2 models Alliance of Genome Resources
DiGeorge syndrome NDST1 Ndst1* 1 model Alliance of Genome Resources
DiGeorge syndrome PLXND1 Plxnd1* 2 models Alliance of Genome Resources
DiGeorge syndrome pta* 1 model
DiGeorge syndrome VEGFA Vegfa* 2 models Alliance of Genome Resources
DiGeorge syndrome ZNF366 Zfp366* 1 model Alliance of Genome Resources
hypotonia-cystinuria syndrome CAMKMT Camkmt* 2 models Alliance of Genome Resources
Phelan-McDermid syndrome TCF20 Tcf20* 1 model Alliance of Genome Resources
velocardiofacial syndrome CRKL Crkl* 1 model Alliance of Genome Resources
velocardiofacial syndrome b2b1941Clo* 1 model
velocardiofacial syndrome EDNRA Ednra* 1 model Alliance of Genome Resources
velocardiofacial syndrome CHRD Chrd* 1 model Alliance of Genome Resources
velocardiofacial syndrome PRICKLE1 Prickle1* 1 model Alliance of Genome Resources
velocardiofacial syndrome TRAPPC10 Trappc10* 1 model Alliance of Genome Resources
velocardiofacial syndrome MAPK1 Mapk1* 1 model Alliance of Genome Resources
Williams-Beuren syndrome FZD9 Fzd9* 4 models Alliance of Genome Resources
Williams-Beuren syndrome DLG4 Dlg4* 1 model Alliance of Genome Resources
Williams-Beuren syndrome CLIP2 Clip2* 3 models Alliance of Genome Resources
Williams-Beuren syndrome BAZ1B Baz1b* 6 models Alliance of Genome Resources
Williams-Beuren syndrome b2b370Clo* 1 model
Williams-Beuren syndrome GTF2I Gtf2i* 4 models Alliance of Genome Resources
Williams-Beuren syndrome GTF2IRD1 Gtf2ird1* 6 models Alliance of Genome Resources
Williams-Beuren syndrome LIMK1 Limk1* 3 models Alliance of Genome Resources
Williams-Beuren syndrome LOX Lox* 1 model Alliance of Genome Resources
Williams-Beuren syndrome SRC Src* 1 model Alliance of Genome Resources
Wolf-Hirschhorn syndrome NSD2 Nsd2* 6 models Alliance of Genome Resources
Wolf-Hirschhorn syndrome FGFRL1 Fgfrl1* 1 model Alliance of Genome Resources
     46,XY sex reversal 10 SOX9* Sox9   Alliance of Genome Resources
chromosome 15q24 deletion syndrome SIN3A* Sin3a   Alliance of Genome Resources
chromosome 5q deletion syndrome RPS14* Rps14   Alliance of Genome Resources
DiGeorge syndrome ARVCF* Arvcf 2 models Alliance of Genome Resources
DiGeorge syndrome DVL1*, DVL1P1* Dvl1   Alliance of Genome Resources
DiGeorge syndrome UFD1* Ufd1 2 models Alliance of Genome Resources
hereditary nonpolyposis colorectal cancer type 8 EPCAM* Epcam   Alliance of Genome Resources
NFIA-related disorder NFIA* Nfia   Alliance of Genome Resources
Rubinstein-Taybi syndrome EP300* Ep300   Alliance of Genome Resources
SATB2-associated syndrome SATB2* Satb2   Alliance of Genome Resources
thrombocytopenia-absent radius syndrome RBM8A* Rbm8a   Alliance of Genome Resources
Williams-Beuren syndrome LAT2* Lat2 2 models Alliance of Genome Resources
Williams-Beuren syndrome BUD23* Bud23 2 models Alliance of Genome Resources
Williams-Beuren syndrome DNAJC30* Dnajc30 2 models Alliance of Genome Resources
Williams-Beuren syndrome ELN* Eln 2 models Alliance of Genome Resources
Williams-Beuren syndrome FKBP6* Fkbp6 2 models Alliance of Genome Resources
Williams-Beuren syndrome FZD3* Fzd3   Alliance of Genome Resources
Williams-Beuren syndrome RCC1L* Rcc1l   Alliance of Genome Resources
Williams-Beuren syndrome NCF1*, NCF1B, NCF1C Ncf1   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
  chromosomal deletion syndrome Del(10Prmt2-Pdxk)4Yey 1 model
  chromosomal deletion syndrome Del(XArmcx5-Nxf3)3Jw 2 models
  chromosomal deletion syndrome Del(XNxf2-Nxf3)1Jw 2 models
  chromosome 10q23 deletion syndrome Tg(CAG-Bmpr1a*,-lacZ)1Nobs 1 model
  chromosome 15q13.3 microdeletion syndrome Del(7Chrna7-Fan1)3Arte 1 model
  chromosome 15q13.3 microdeletion syndrome Del(7Chrna7-Fan1)1Mima 1 model
  chromosome 22q11.2 deletion syndrome, distal Del(16Pi4ka-Hira)1Atai 1 model
  chromosome 22q11.2 deletion syndrome, distal Del(16Es2el-Ufd1l)217Bld 2 models
  DiGeorge syndrome Del(16Dgcr2-Hira)1Rak 1 model
  DiGeorge syndrome Del(16Dgcr2-Hira)3Aam 1 model
  DiGeorge syndrome Del(16Es2el-Ufd1l)217Bld 1 model
  Smith-Magenis syndrome Del(11Cops3-Rnf112)1Jrl 1 model
  Smith-Magenis syndrome Del(11Cops3-Gid4)2Jrl 1 model
  velocardiofacial syndrome Del(16Dgcr2-Hira)1Rak 1 model
  Williams-Beuren syndrome Del(5Gtf2i-Fkbp6)1Vcam 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit148-Qdpr)2Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit73-D5Mit351)5Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5D5Mit388-D5Mit351)4Jcs 1 model
  Wolf-Hirschhorn syndrome Del(5Letm1-D5Mit81)3Jcs 1 model