Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974

2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker GENOMICS_ENGLAND Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007