FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
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: rs752125512
rs752125512
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		C 0.700 GeneticVariation CLINVAR Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 24560797 2014
dbSNP: rs752125512
rs752125512
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		C 0.700 GeneticVariation CLINVAR A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 21467170 2011
dbSNP: rs281865528
rs281865528
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs752125512
rs752125512
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs148060787
rs148060787
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.020 GeneticVariation BEFREE This study was conducted to examine Cl(-) currents generated by six hBest1 mutations (E119Q, A146K, T216I, DeltaI295, D312N, and L567F) found in patients having adult-onset macular dystrophies or in BVMD patients having normal electro-oculograms (EOGs), to examine the hypothesis that the severity of disease is related to the effect of the hBest1 mutation on hBest1 Cl(-) channel function. 17898294 2007
dbSNP: rs148060787
rs148060787
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.020 GeneticVariation BEFREE These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K). 11713080 2001
dbSNP: rs374772670
rs374772670
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. 31519547 2019
dbSNP: rs762398929
rs762398929
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N-terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C-terminal domain segregating in the BVMD family. 31254423 2019
dbSNP: rs563488311
rs563488311
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C0339510
Disease:
Vitelliform Macular Dystrophy 		0.010 GeneticVariation BEFREE Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with BVMD. 26201355 2015