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:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

CausalMutation

CLINVAR

dbSNP:

rs200277476

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

UNIPROT

dbSNP:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

CausalMutation

CLINVAR

dbSNP:

rs121918288

BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs368387447

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

GeneticVariation

UNIPROT

dbSNP:

rs121918286

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.710

CausalMutation

CLINVAR

dbSNP:

rs775283269

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs753614067

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

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:

rs267606678

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1565392261

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554964287

FTH1 ; BEST1

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554963305

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs1431752515

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1417478879

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

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:

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:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

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

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

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

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

18179881

2008

dbSNP:

rs121918284

BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.820

GeneticVariation

UNIPROT

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

19853238

2009

dbSNP:

rs121918287

FTH1 ; BEST1 ; LOC107984334

CUI:	C3888198
Disease:	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

0.810

GeneticVariation

UNIPROT

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

19853238

2009