HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0267795
Disease: Subacute hepatic necrosis
Subacute hepatic necrosis
disease Digestive System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2015 2015
CUI: C0865274
Disease: High-oxygen-affinity hemoglobin
High-oxygen-affinity hemoglobin
disease Disease or Syndrome 1 3 0.010 None 1.000 1 2008 2008
Severe left ventricular systolic dysfunction
disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
phenotype Finding 1 2 0.600 strong 0 2
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
HEMOCHROMATOSIS, JUVENILE, DIGENIC
disease Finding 1 1 0.100 None 0 1
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
phenotype Finding 1 2 0.100 None 0 2
CUI: C0342886
Disease: Primary hypertriglyceridemia
Primary hypertriglyceridemia
disease Nutritional and Metabolic Diseases Congenital Abnormality 2 0.010 None 1.000 1 2009 2009
CUI: C1141933
Disease: Multi-organ disorder
Multi-organ disorder
disease Disease or Syndrome 2 3 0.010 None 1.000 1 1 2010 2010
CUI: C4551590
Disease: Familial renal hypouricemia
Familial renal hypouricemia
disease Disease or Syndrome 2 1 0.010 None 1.000 1 2014 2014
CUI: C0151861
Disease: Porphyruria
Porphyruria
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.100 None 0
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 6 0.100 None 0 2
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
phenotype Finding 2 3 0.100 None 0 1
CUI: C2936913
Disease: Porphyria, South African type
Porphyria, South African type
disease Disease or Syndrome 2 0.300 None 0
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 20 0.040 None 1.000 4 4 2002 2008
CUI: C1262289
Disease: Dysmetabolic syndrome
Dysmetabolic syndrome
disease Disease or Syndrome 3 1 0.010 None 1.000 1 1 2003 2003
Hyperpigmentation in sun-exposed areas
phenotype Skin and Connective Tissue Diseases Finding 3 0.100 None 0
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 3 0.050 None 1.000 5 3 1988 2005
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 26 0.030 None 1.000 3 1 2001 2008
CUI: C3839044
Disease: Compensated liver disease
Compensated liver disease
disease Digestive System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C4552187
Disease: Cardiac iron overload
Cardiac iron overload
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 1 2007 2007
CUI: C0869532
Disease: Beta thalassemia minor
Beta thalassemia minor
disease Disease or Syndrome 5 1 0.010 None 1.000 1 1 2006 2006
CUI: C0202105
Disease: Transferrin measurement
Transferrin measurement
phenotype Laboratory Procedure 6 10 0.100 None 1.000 1 1 2014 2014