HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease CLINVAR
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE 121 college students read about hemochromatosis, transferrin saturation measurement (iron test), and HFE genotyping. 16388329 2005
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis is a genetic form of iron overload due to a defective HFE gene. 10477452 1999
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis occurs in approximately 5 white people per 1000 and is usually due to homozygosity for mutations in the HLA-linked HFE gene. 11087882 2000
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis with HFE gene mutation in a Japanese patient. 11513196 2001
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis is usually inherited in an autosomal recessive mode and associated with missense mutations in the hemochromatosis gene (HFE), an HLA class 1 related gene. 14648375 2003
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Type 1 hemochromatosis is a disorder of iron metabolism mostly related to the HFE gene mutations. 15517265 2005
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis in white subjects is mostly due to homozygosity for the common C282Y substitution in HFE. 16476869 2006
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution. 23098241 2013
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE Hemochromatosis is associated with increased risk of hematological neoplasias, but studies showing hemochromatosis gene mutations in myelodysplastic syndrome (MDS) are scanty, particularly in the elderly. 23160508 2012
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE HFE-hemochromatosis is a disease characterized by a systemic iron overload phenotype mainly associated with mutations in the HFE protein (HFE) gene. 31132316 2019
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE Hemochromatosis in Ireland and HFE. 9851896 1998
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. 10194428 1999
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE and non-HFE hemochromatosis. 12416729 2002
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping. 12512743 2002
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I. 12753664 2003
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE-hemochromatosis is the most common form of hereditary hemochromatosis. 15528154 2005
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE hemochromatosis and hepatic sarcoid. 19440063 2009
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 19554541 2009
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE gene testing can be used to diagnose hemochromatosis, but analyses of liver histology and clinical features are still required to identify patients with rare, non-HFE forms of the disease. 20542038 2010
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 GeneticVariation disease BEFREE HFE C282Y homozygotes and compound heterozygotes (C282Y/H63D) are at risk of developing manifestations of hemochromatosis. 24054178 2013
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE-hemochromatosis is one of the most common genetic disorders in the United States among Caucasians of Northern European ancestry. 24574363 2014
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.900 Biomarker disease BEFREE HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease. 26164493 2015