CEP41, centrosomal protein 41, 95681

N. diseases: 69; N. variants: 3
Disease: JOUBERT SYNDROME 15 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 22246503 2012
CUI: C3280897
Disease: JOUBERT SYNDROME 15
JOUBERT SYNDROME 15 		0.300 Biomarker disease GENOMICS_ENGLAND