CEP41, centrosomal protein 41, 95681

N. diseases: 69; N. variants: 3
Disease: Joubert syndrome with ocular defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274118
Disease: Joubert syndrome with ocular defect
Joubert syndrome with ocular defect 		0.300 GermlineCausalMutation disease ORPHANET CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012