FTH1, ferritin heavy chain 1, 2495

N. diseases: 21; N. variants: 12
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant
0.700 Biomarker disease GENOMICS_ENGLAND A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. 11389486 2001
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant
0.700 GermlineCausalMutation disease ORPHANET A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. 11389486 2001
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant
0.700 Biomarker disease CTD_human