TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
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: C0002453
Disease: Amenorrhea
Amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0151900
Disease: Serum iron raised
Serum iron raised
phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin
phenotype Finding 23 1 0.100 None 0
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.400 None 1.000 44 6 2000 2017
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.500 None 1.000 35 12 2000 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.100 None 0.971 35 8 2000 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 0.100 None 1.000 32 6 2000 2017
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 8 0.040 None 1.000 4 1 2000 2006
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.020 None 1.000 2 1 2000 2012
CUI: C0268059
Disease: Neonatal hemochromatosis
Neonatal hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2000 2000
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 1.000 None 1.000 18 16 2001 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.060 None 1.000 6 2001 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.030 None 1.000 3 2001 2010
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.010 None 1.000 1 2001 2001