BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150 2012
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666 2011
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557 2009
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995 2008
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985 2008
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385 2004
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869 2003
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959 2003
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431 2002
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 12324875 2002
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846 2001
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320 2001
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 10682987 2000
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642 2000
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951 1999
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929 1999
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731 1999
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 9700209 1998
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.800 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395 1998
dbSNP: rs28940275
rs28940275
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		C 0.800 CausalMutation CLINVAR