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: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.700 None 0.975 447 16 1991 2020
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.600 moderate 0.979 434 15 1987 2019
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.900 None 0.979 385 23 1987 2019
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.100 None 0.929 282 10 1986 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.100 None 0.972 36 7 1999 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.400 None 0.969 32 5 1998 2020
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 30 39 0.600 strong 0.967 30 6 1996 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.200 None 0.967 30 7 1999 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.200 None 0.893 28 6 2000 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.700 strong 0.963 27 3 2001 2018
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.100 None 1.000 24 2 1998 2020
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.100 None 1.000 20 2 1995 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.789 19 2 2000 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 0.789 19 3 2000 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.100 None 0.933 15 3 2002 2017
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.100 None 1.000 14 2 1998 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 0.643 14 3 1998 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.100 None 0.769 13 2 2004 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.100 None 0.750 12 3 2003 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 0.636 11 4 1998 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.400 None 0.727 11 4 2002 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0.900 10 2 2005 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 10 2 2003 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.100 None 0.700 10 2 1998 2013
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 8 0.100 None 0.900 10 1 1998 2014