IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.100 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015