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: 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: 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: 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: 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: 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: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) 		phenotype Finding 1 2 0.600 strong 0 2
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.420 None 1.000 3 1 2010 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.410 None 0.750 4 5 2012 2019
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 24 0.410 strong 1.000 1 3 1999 1999
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: 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: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.400 moderate 1.000 6 4 2010 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.380 None 0.875 8 2 2003 2016
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.320 None 1.000 3 1 2003 2015
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.310 None 1.000 3 2 2000 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.310 None 1.000 3 2004 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.310 None 1.000 2 2009 2010
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.310 moderate 1.000 2 2 2005 2016
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 126 61 0.310 None < 0.001 1 2 2012 2012
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 15 3 0.300 None 1.000 22 2 1999 2014
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 2 2004 2006
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.300 None 1.000 2 2004 2006
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.300 None 1.000 2 2004 2006
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 2 2004 2006
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.300 None 1.000 1 2006 2006