TFR2, transferrin receptor 2, 7036

N. diseases: 88; N. variants: 37
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 16 0.990 1.000 20 15 1993 2014
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 166 36 0.500 1.000 30 6 2000 2017
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 22 0.400 1.000 44 3 2000 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 133 82 0.310 1.000 1 2006 2006
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 32 5 0.300 1 2006 2006
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 0.300 1 2006 2006
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 69 1 0.300 1 2006 2006
CUI: C0085578
Disease: Thalassemia Minor
Thalassemia Minor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 1 0.300 1 2006 2006
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.300 strong 0
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.300 strong 0
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.300 strong 0
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart
group Cardiovascular Diseases Disease or Syndrome 78 0.300 strong 0
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
disease Disease or Syndrome 64 42 0.200 1.000 27 4 2001 2017
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.130 0.333 3 2 2006 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.120 1.000 2 2005 2015
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 87 30 0.100 0.931 29 4 2000 2017
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 117 250 0.100 5 2 2009 2017
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 193 435 0.100 4 3 2009 2017
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 386 4531 0.100 3 10 2012 2017
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 386 4531 0.100 3 10 2012 2017
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 100 212 0.100 3 3 2009 2017
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement
phenotype Laboratory Procedure 13 24 0.100 2 1 2011 2015
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 96 219 0.100 2 2 2017 2017
Red cell distribution width determination
phenotype Laboratory Procedure 107 206 0.100 1 3 2017 2017