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: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 GeneticVariation CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970

2006