Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666 2011
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557 2009
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995 2008
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985 2008
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385 2004
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959 2003
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869 2003
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431 2002
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 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
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846 2001
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320 2001
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642 2000
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 10682987 2000
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951 1999
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731 1999
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929 1999
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 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
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
0.700 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395 1998