Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GeneticVariation disease 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 		0.800 Biomarker disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. 21273940 2011
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 19375515 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 Biomarker disease BEFREE We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GermlineCausalMutation disease ORPHANET We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GeneticVariation disease UNIPROT We propose that ARB is the null phenotype of bestrophin-1 in humans. 18179881 2008
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 15452077 2004
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GeneticVariation disease CLINVAR Cortical image density determines the probability of target discovery during active search. 10788642 2000
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 GeneticVariation disease CLINVAR Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642 2000
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 Biomarker disease CTD_human
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.800 CausalMutation disease CLINVAR
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.100 GeneticVariation disease CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.100 GeneticVariation disease CLINVAR The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 28819299 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.100 GeneticVariation disease CLINVAR Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. 27258436 2016
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.100 GeneticVariation disease CLINVAR High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. 23379534 2013
Entrez Id: 2495
Gene Symbol: FTH1
FTH1 		0.100 GeneticVariation disease CLINVAR The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 19375515 2009
Entrez Id: 2495
Gene Symbol: FTH1
FTH1 		0.100 CausalMutation disease CLINVAR