DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa 7, C1842475

Gene: PRPH2 ×

Source: UNIPROT ×

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:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

26796962

2016

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

26796962

2016

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

26796962

2016

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

26796962

2016

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

26796962

2016

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

Next-generation genetic testing for retinitis pigmentosa.

22334370

2012

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

19038374

2009

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

19038374

2009

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

19038374

2009

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

19038374

2009

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

19038374

2009

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

16799052

2006

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

16799052

2006

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

16799052

2006

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

16799052

2006

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

16799052

2006

dbSNP:

rs121918563

PRPH2

0.700

GeneticVariation

UNIPROT

Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

11485765

2001

dbSNP:

rs139185976

PRPH2

0.700

GeneticVariation

UNIPROT

Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

11485765

2001

dbSNP:

rs61755800

PRPH2

0.700

GeneticVariation

UNIPROT

Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

11485765

2001

dbSNP:

rs61755804

PRPH2

0.700

GeneticVariation

UNIPROT

Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

11485765

2001

dbSNP:

rs61755805

PRPH2

0.700

GeneticVariation

UNIPROT

Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

11485765

2001