CEP41, centrosomal protein 41, 95681

N. diseases: 69; N. variants: 3
Disease: Joubert syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.300 GermlineCausalMutation disease ORPHANET CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012