FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Disease: Vitelliform Macular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 GeneticVariation disease CLINVAR Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. 24560797 2014
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 GeneticVariation disease CLINVAR A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 21467170 2011
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		0.100 CausalMutation disease CLINVAR