HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
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: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.800 strong 0.994 517 88 1961 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.800 None 0.994 154 37 1957 2020
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.700 None 1.000 40 7 1979 2019
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 14 0.700 strong 1.000 2 14 2010 2011
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 0.600 None 0.962 26 1979 2017
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 19 0.600 strong 1.000 1 17 2010 2010
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.500 None 1.000 132 37 1969 2019
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.500 None 1.000 20 14 1985 2017
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.500 None 0.846 13 3 1999 2018
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 0.500 None 1.000 12 7 1985 2019
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 8 0.400 None 1.000 20 5 1979 2017
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 0.400 None 0.941 17 1983 2008
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.400 None 1.000 15 3 1980 2019
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 4 0.400 None 1.000 5 1 2011 2016
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis 		phenotype Hemic and Lymphatic Diseases Finding 9 1 0.400 None 1.000 2 1 1975 1982
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		phenotype Finding 4 20 0.400 strong 1.000 1 12 2010 2010
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.400 None 1.000 1 2018 2018
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 1 0.400 None 1.000 1 1 2011 2011
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.330 None 0.750 4 1999 2010
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 14 0.320 strong 1.000 3 2005 2014
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.310 None 1.000 2 2005 2017
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 6 1979 2014
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.300 None 1.000 2 2 1975 1982
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 2 2001 2014
CUI: C0013502
Disease: Echinococcosis
Echinococcosis 		disease Infections Disease or Syndrome 21 1 0.300 None 1.000 1 2014 2014