DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

Variant: rs775557680 ×

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:

rs775557680

RHO

0.730

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

30718709

2019

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

BEFREE

We generated induced pluripotent stem cells (iPSCs) from an RP patient carrying a rhodopsin mutation (E181K).

24935155

2014

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

BEFREE

Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.

15126168

2004

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

BEFREE

Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.

11124299

2000

dbSNP:

rs775557680

RHO

0.730

GeneticVariation

CLINVAR

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

1833777

1991