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 CTD_human

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

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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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