DisGeNET - a database of gene-disease associations

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, C3888198

Variant: rs121918288 ×

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:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

26200502

2015

dbSNP:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

22234150

2012

dbSNP:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

21330666

2011

dbSNP:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

19853238

2009

dbSNP:

rs121918288

BEST1

0.800

GeneticVariation

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs121918288

BEST1

0.800

CausalMutation

CLINVAR