CEP104, centrosomal protein 104, 9731

N. diseases: 51; N. variants: 16
Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.300 Biomarker disease GENOMICS_ENGLAND Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015