Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.160 CausalMutation CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967

2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.160 GeneticVariation CLINVAR