DisGeNET - a database of gene-disease associations

obsolete Peripheral retinopathy, C4072867

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:

rs1567499068

rs1567499068

SCAPER

A

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

2019

dbSNP:

rs111033272

rs111033272

USH2A

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554863016

rs1554863016

KIF11

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs61750420

rs61750420

PEX1

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs61755787

rs61755787

PRPH2

T

0.700

GeneticVariation

CLINVAR