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: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. 30055837

2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115

2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604

2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974

2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		0.700 Biomarker GENOMICS_ENGLAND Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394

2006