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

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

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

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

19853238

2009

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:

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:

rs1484152128

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.010

GeneticVariation

BEFREE

21203346

2010

dbSNP:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

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

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:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

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:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

BEFREE

21330666

2011

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:

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:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

21330666

2011

dbSNP:

rs281865277

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

BEFREE

21330666

2011

dbSNP:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

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

22234150

2012

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

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

22234150

2012

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:

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:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

BEFREE

The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.

26200502

2015

dbSNP:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB.

26200502

2015

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:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

UNIPROT

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

26720466

2015

dbSNP:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

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