Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.610 GermlineCausalMutation ORPHANET Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. 21725307

2011