DisGeNET - a database of gene-disease associations

Source: ALL

Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×

Gene: BEST1 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

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

21330666

2011

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

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

19853238

2009

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918286

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

Lastly, we find that the ARB truncation mutants L174Qfs*57 and R200X can form oligomers with WT Best1, indicating that the first ∼174 amino acids of Best1 are sufficient for oligomerization to occur.

24560797

2014

dbSNP:

rs121918286

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

CausalMutation

CLINVAR

dbSNP:

rs199529046

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

CLINVAR

Two novel combinations of missense mutations in the BEST1 gene were identified: p.R141H/p.M325T in three patients with ARB in two unrelated Norwegian families, and p.R141H/p.I201T was found in an ARB patient in a Swedish family.

26333019

2016

dbSNP:

rs199529046

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype.

26333019

2016

dbSNP:

rs199529046

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

CLINVAR

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

22422030

2012

dbSNP:

rs199529046

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

CLINVAR

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

10798642

2000

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

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:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.

21330666

2011

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

21330666

2011

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

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

19853238

2009

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs368387447

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype.

26333019

2016

dbSNP:

rs368387447

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

dbSNP:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB.

31519547

2019

dbSNP:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

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:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

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

21330666

2011

dbSNP:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

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

19853238

2009

dbSNP:

rs765998048

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs1417478879

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT