rs747835249, CEP290

N. diseases: 4
Disease: Meckel-Gruber syndrome ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604 2007
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
0.700 CausalMutation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006