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:

rs1417478879

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1431752515

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1484152128

BEST1 ; LOC107984334

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:

rs1554963305

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554964287

FTH1 ; BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1565392261

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

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

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

CLINVAR

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

10798642

2000

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:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

CLINVAR

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

CLINVAR

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

21330666

2011

dbSNP:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

CLINVAR

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

21273940

2011

dbSNP:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

UNIPROT

dbSNP:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

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:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

CLINVAR

Cortical image density determines the probability of target discovery during active search.

10788642

2000

dbSNP:

rs267606678

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

dbSNP:

rs267606680

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family.

26716959

2016

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

dbSNP:

rs281865225

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs281865238

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

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:

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