Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015