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
1.000 GeneticVariation BEFREE A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation BEFREE New best1 mutations in autosomal recessive bestrophinopathy. 25545482

2015

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 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

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation UNIPROT The effect of ARB-associated mutations of BEST1 on the cellular localization was determined by in vitro experiments. 26720466

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation CLINVAR Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 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
1.000 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
1.000 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
1.000 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation BEFREE It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB). 22584882

2012

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 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
1.000 GeneticVariation CLINVAR In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular localization, and stability. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 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

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation UNIPROT Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). 26200502

2015

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation BEFREE Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 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
1.000 GeneticVariation BEFREE Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. 28687848

2017

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation BEFREE Blood samples were obtained to analyze the BEST1 gene for biallelic mutations that confirmed the diagnosis of ARB. 23290749

2013

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

2012

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation UNIPROT We have identified and described the phenotype and in vitro functional aspects of a new BEST1 mutation causing ARB. 26720466

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation BEFREE Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. 28481155

2017

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 GeneticVariation UNIPROT Moreover, Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient. 26200502

2015

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

2009