FTH1, ferritin heavy chain 1, 2495

N. diseases: 107; N. variants: 18
Source: ALL
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 CausalMutation disease CLINVAR
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant
0.700 Biomarker disease CTD_human
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.330 Biomarker disease BEFREE Silencing of FXN expressions occurred both in somatic FRDA-skin fibroblasts and two of the induced pluripotent stem cells (iPSC) clones; a sign of stress condition was shown in FRDA-iPSC cardiomyocytes with disorganized mitochondrial network and mitochondrial DNA (mtDNA) depletion; hypertrophic cardiac stress responses were observed by an increase in α-actinin-positive cell sizes revealed by FACS analysis as well as elevation in brain natriuretic peptide (BNP) gene expression; the intracellular iron accumulated in FRDA cardiomyocytes might be due to attenuated negative feedback response of transferring receptor (TSFR) expression and positive feedback response of ferritin (FTH1); energy synthesis dynamics, in terms of ATP production rate, was impaired in FRDA-iPSC cardiomyocytes, which were prone to iron overload condition. 24327207 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.330 Biomarker disease LHGDN Intra-leukocytic hemosiderin inclusions detected as pseudoeosinophils by automated depolarization analysis in a patient with beta-thalassaemia major and immune hemolysis. 15727900 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.330 Biomarker disease CTD_human A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. 11389486 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload
0.330 Biomarker disease BEFREE Patients on a moderate red cell transfusion programme have iron overload where the concentrations of the serum ferritin were inappropriate to increases in the transfusion load as a result of limitations of apoferritin synthesis and conversion of ferritin into haemosiderin. 8009283 1994
CUI: C0017638
Disease: Glioma
Glioma
0.310 Biomarker disease BEFREE Long non‑coding RNA ferritin heavy polypeptide 1 pseudogene 3 controls glioma cell proliferation and apoptosis via regulation of the microRNA‑224‑5p/tumor protein D52 axis. 30221720 2018
CUI: C0017638
Disease: Glioma
Glioma
0.310 Biomarker disease CTD_human Heavy chain ferritin siRNA delivered by cationic liposomes increases sensitivity of cancer cells to chemotherapeutic agents. 21385903 2011
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.300 Biomarker disease CTD_human Iron signature in asbestos-induced malignant pleural mesothelioma: A population-based autopsy study. 26818092 2016
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis
0.300 Biomarker disease CTD_human Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay. 25724174 2015
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity
0.300 Biomarker phenotype CTD_human Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay. 25724174 2015
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
0.300 Biomarker phenotype CTD_human Role of ferritin alterations in human breast cancer cells. 20390345 2011
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
0.300 Biomarker group CTD_human Chronic administration of 2-acetylaminofluorene alters the cellular iron metabolism in rat liver. 21785164 2011
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
0.300 Biomarker disease CTD_human Heavy chain ferritin siRNA delivered by cationic liposomes increases sensitivity of cancer cells to chemotherapeutic agents. 21385903 2011
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic
0.300 Biomarker disease CTD_human Chronic administration of 2-acetylaminofluorene alters the cellular iron metabolism in rat liver. 21785164 2011
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.300 Biomarker disease CTD_human Heavy chain ferritin siRNA delivered by cationic liposomes increases sensitivity of cancer cells to chemotherapeutic agents. 21385903 2011
CUI: C0022548
Disease: Keloid
Keloid
0.300 Biomarker disease CTD_human Comparative proteomic analysis between normal skin and keloid scar. 20128793 2010
CUI: C0011573
Disease: Endogenous depression
Endogenous depression
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007
CUI: C0025193
Disease: Melancholia
Melancholia
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007
CUI: C0086133
Disease: Depressive Syndrome
Depressive Syndrome
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007
CUI: C0282126
Disease: Depression, Neurotic
Depression, Neurotic
0.300 Biomarker disease CTD_human The relationship between depression and serum ferritin level. 17063146 2007