BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation BEFREE We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype. 26333019 2016
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466 2015
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation BEFREE The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502 2015
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502 2015
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150 2012
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666 2011
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238 2009
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881 2008
dbSNP: rs121918284
rs121918284
Entrez Id: 7439;107984334
Gene Symbol: BEST1;LOC107984334
BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		A 0.820 CausalMutation CLINVAR