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: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466 2015
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. 26200502 2015
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666 2011
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation BEFREE Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666 2011
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238 2009
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881 2008
dbSNP: rs121918287
rs121918287
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		A 0.810 CausalMutation CLINVAR