FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
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
dbSNP: rs368387447
rs368387447
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 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: rs368387447
rs368387447
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT
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: rs17156609
rs17156609
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs195156
rs195156
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs195157
rs195157
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs1800009
rs1800009
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C0202177
Disease:
Phospholipid measurement 		0.700 GeneticVariation GWASDB Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. 21829377 2011
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: rs752521456
rs752521456
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 19375515 2009
dbSNP: rs1554963305
rs1554963305
Entrez Id: 2495;7439;107984334
Gene Symbol: FTH1;BEST1;LOC107984334
FTH1;BEST1;LOC107984334
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554964287
rs1554964287
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
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: rs387906549
rs387906549
Entrez Id: 2495;399900
Gene Symbol: FTH1;LOC399900
FTH1;LOC399900
CUI: C1851316
Disease:
Iron Overload, Autosomal Dominant 		A 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: rs374772670
rs374772670
Entrez Id: 2495;7439
Gene Symbol: FTH1;BEST1
FTH1;BEST1
CUI: C3888198
Disease:
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		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