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 Biomarker BEFREE Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes. 30578502

2019

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker BEFREE BEST1 gene screening and detailed clinical examinations help establishing a diagnosis of ARB. 30593719

2019

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. 31254423

2019

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 Biomarker BEFREE Best1 protein was detected in different clones of ARB iPSC-RPE, but at reduced levels compared to all controls. 29540715

2018

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Interestingly, the ARB families A and B carry homozygous mutations while family C was a compound heterozygote with a mutation in an alternate BEST1 transcript isoform, highlighting a role for alternate BEST1 transcripts in bestrophinopathy. 29976937

2018

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Taken together, our data provide insight into the molecular pathways of dominantly and recessively acting BEST1 missense mutations suggesting that the site of subcellular protein quality control as well as the rate and degree of mutant protein degradation are ultimately responsible for the distinct retinal disease phenotypes in BD and ARB. 29668979

2018

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 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
0.800 Biomarker BEFREE To describe the presenting features and functional outcomes in a series of patients with choroidal neovascular membrane complicating BEST1-related retinopathy (Best disease and autosomal recessive bestrophinopathy). 27764019

2017

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). 28831140

2017

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. 28687848

2017

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. 26333019

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE Two novel combinations of missense mutations in the BEST1 gene were identified: p.R141H/p.M325T in three patients with ARB in two unrelated Norwegian families, and p.R141H/p.I201T was found in an ARB patient in a Swedish family. 26333019

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family. 26716959

2016

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE The functional rescue achieved with 4PBA is significant because it suggests that this drug, which is already approved for long-term use in infants and adults, might represent a promising therapy for the treatment of ARB and other bestrophinopathies resulting from missense mutations in BEST1. 27519691

2016

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

2015

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

2015

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

2015

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

2015

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 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
0.800 Biomarker BEFREE Our current and past results indicate that mislocalization of Best1 is not an absolute feature of any individual bestrophinopathy, occurring in AVMD, BVMD, and ARB. 24560797

2014

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 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
0.800 GeneticVariation CLINVAR A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. 22422030

2012

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation BEFREE BEST1 was directly screened for mutations in two ARB unrelated patients. 22199244

2012

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