rs61751282, RPE65

N. diseases: 2
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496 2017
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Predicting the pathogenicity of RPE65 mutations. 19431183 2009
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Molecular characterization of Leber congenital amaurosis in Koreans. 18682808 2008
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. 18539930 2008
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 17724218 2007
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548. 17297704 2006
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. 16150724 2005
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Evaluation of genotype-phenotype associations in leber congenital amaurosis. 16205573 2005
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725 2004
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725 2004
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. 14962443 2004
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Analysis of three genes in Leber congenital amaurosis in Indonesian patients. 14611946 2003
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. 11462243 2001
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation CLINVAR Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. 11462243 2001
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Mutation analysis of 3 genes in patients with Leber congenital amaurosis. 10766140 2000
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. 9801879 1999
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. 10090910 1999
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 9326941 1997
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
0.800 GeneticVariation UNIPROT Mutations in RPE65 cause Leber's congenital amaurosis. 9326927 1997