Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT All ARB mutants investigated produced significantly smaller chloride currents compared to wild-type bestrophin-1. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker BEFREE ARB is a rare retinal disorder.We contribute a novel patient report indicative of ARB, assessed by clinical examination and confirmed by genotyping of BEST1, to the short list of ARB cases in the literature. 21412020

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE As demonstrated in these consanguineous families, a great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant BVMD with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy. 21738390

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: BVMD and ARB. 22162627

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. 21273940

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR All ARB mutants investigated produced significantly smaller chloride currents compared to wild-type bestrophin-1. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE The effect of ARB mutations on the cellular localization of bestrophin-1 was determined by confocal immunofluorescence on transiently transfected MDCK II cells that had been polarized on Transwell filters. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 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

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. 19853238

2009

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. 19853238

2009

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 19375515

2009

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker BEFREE We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881

2008

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GermlineCausalMutation ORPHANET We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881

2008

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881

2008

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker GENOMICS_ENGLAND Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 15452077

2004

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Cortical image density determines the probability of target discovery during active search. 10788642

2000

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642

2000

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker CTD_human

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR