rs61752883, RPE65
N. diseases: 2
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | 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)
|
0.700 | GeneticVariation | UNIPROT | Molecular characterization of Leber congenital amaurosis in Koreans. | 18682808 | 2008 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | 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)
|
0.700 | GeneticVariation | UNIPROT | Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548. | 17297704 | 2006 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Evaluation of genotype-phenotype associations in leber congenital amaurosis. | 16205573 | 2005 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | 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)
|
0.700 | 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)
|
0.700 | GeneticVariation | UNIPROT | Analysis of three genes in Leber congenital amaurosis in Indonesian patients. | 14611946 | 2003 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. | 11462243 | 2001 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutation analysis of 3 genes in patients with Leber congenital amaurosis. | 10766140 | 2000 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. | 9801879 | 1999 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. | 10090910 | 1999 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutations in RPE65 cause Leber's congenital amaurosis. | 9326927 | 1997 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | GeneticVariation | UNIPROT | Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. | 9326941 | 1997 |