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:

rs775283269

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs771898125

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB.

21203346

2010

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:

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

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

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

19853238

2009

dbSNP:

rs762398929

FTH1 ; BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family.

31254423

2019

dbSNP:

rs753614067

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs752521456

FTH1 ; BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

19375515

2009

dbSNP:

rs374772670

FTH1 ; BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

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:

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:

rs28940273

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB).

28831140

2017

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

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

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

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

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

BEFREE

21330666

2011

dbSNP:

rs281865258

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

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:

rs281865238

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs281865225

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs281865223

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

Further, the inheritance pattern of BEST1 mutations in the families confirmed the diagnosis of ARB in probands in families A, B and C, while the inheritance of heterozygous BEST1 mutation in family D (p.Thr91Ile) was suggestive of BVMD.

29976937

2018