rs1060499781, CEP290

N. diseases: 4
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 GeneticVariation CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 GeneticVariation CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604 2007
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
0.700 GeneticVariation CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006