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 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 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 BEFREE A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2016

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 UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2016

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 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 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 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 UNIPROT The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502

2015

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
1.000 Biomarker BEFREE 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 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 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 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 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 BEFREE In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism. 22199244

2012

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 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 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 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 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