IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Familial aplasia of the vermis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777079
rs587777079
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015