DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa 20, C3151086

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

15557452

2004

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.

25752820

2015

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

29681726

2018

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

12960219

2003

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

25495949

2016

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.

26626312

2016

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

CLINVAR

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.

26906952

2016

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

23878505

2013

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

11095629

2000

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

9501220

1998

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

15557452

2004

dbSNP:

rs121917745

RPE65

0.800

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

9501220

1998

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

12960219

2003

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

15557452

2004

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

23878505

2013

dbSNP:

rs61752871

RPE65

0.800

GeneticVariation

UNIPROT

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

11095629

2000

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

9501220

1998

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

15557452

2004

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

12960219

2003

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

11095629

2000

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61752909

RPE65

0.800

GeneticVariation

UNIPROT

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

23878505

2013

dbSNP:

rs62637004

RPE65

0.800

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012