RPE65, retinoid isomerohydrolase RPE65, 6121

N. diseases: 431; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. 29681726 2018
dbSNP: rs121917744
rs121917744
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs61751282
rs61751282
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs61752896
rs61752896
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs61752908
rs61752908
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs62636300
rs62636300
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs62642584
rs62642584
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. 25495949 2016
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 26626312 2016
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. 26906952 2016
dbSNP: rs61752908
rs61752908
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C1859844
Disease:
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		T 0.800 GeneticVariation CLINVAR Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. 26427455 2016
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 GeneticVariation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820 2015
dbSNP: rs61752871
rs61752871
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		A 0.800 CausalMutation CLINVAR Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. 25752820 2015
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs61752871
rs61752871
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs61752909
rs61752909
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs62637004
rs62637004
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs62642584
rs62642584
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs62653011
rs62653011
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy. 23878505 2013
dbSNP: rs121917745
rs121917745
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs61752871
rs61752871
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs61752909
rs61752909
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs62637004
rs62637004
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs62642584
rs62642584
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
dbSNP: rs62653011
rs62653011
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C3151086
Disease:
Retinitis Pigmentosa 20 		0.800 GeneticVariation UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012