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: 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: 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 2008 2014
CUI: C2827503
Disease: HFE-Associated Hereditary Hemochromatosis
HFE-Associated Hereditary Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 3 0.020 None 1.000 2 2002 2008
CUI: C0151900
Disease: Serum iron raised
Serum iron raised 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0337439
Disease: Iron measurement
Iron measurement 		phenotype Laboratory Procedure 12 16 0.100 None 1.000 1 1 2011 2011
CUI: C0428578
Disease: Iron level result
Iron level result 		phenotype Laboratory or Test Result 12 16 0.100 None 1.000 1 1 2011 2011
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: C1318312
Disease: Serum iron measurement
Serum iron measurement 		phenotype Laboratory Procedure 17 25 0.100 None 1.000 2 1 2011 2014
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: C0085578
Disease: Thalassemia Minor
Thalassemia Minor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2006 2006
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 22 3 0.010 None 1.000 1 2001 2001
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 1 2014 2014
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 0.300 None 1.000 1 2006 2006
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2004 2004
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 0.010 None 1.000 1 2 2008 2008
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 5 0.010 None 1.000 1 2004 2004
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 12 0.010 None 1.000 1 2015 2015
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.010 None 1.000 1 2015 2015
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.300 None 1.000 1 2006 2006
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: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
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: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.010 None 1.000 1 1 2012 2012