Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 GermlineCausalMutation ORPHANET INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. 19668216

2009