Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 95681
Gene Symbol: CEP41
CEP41
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.520 GermlineCausalMutation ORPHANET Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503

2012