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: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 49 0.200 None 0.955 44 46 1975 2016
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		disease Disease or Syndrome 1 39 0.100 None 0 39
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: 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: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.200 None 0.983 177 31 1972 2019
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: 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: 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: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
METHEMOGLOBINEMIA, BETA TYPE 		disease Disease or Syndrome 1 13 0.100 None 0 13
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: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		disease Finding 5 23 0.100 None 0 12
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: 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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.110 None 1.000 1 5 2012 2012
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: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.500 None 0.846 13 3 1999 2018
CUI: C0039730
Disease: Thalassemia
Thalassemia 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.100 None 0.989 88 2 1977 2019
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 2 0.160 None 0.833 6 2 1988 2005
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 3 2 2017 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.110 None 1.000 2 2 2019 2019
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: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 75 16 0.100 None 1.000 18 1 1978 2019
CUI: C4321477
Disease: Sickle Cell-SS Disease
Sickle Cell-SS Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 2 0.100 None 1.000 18 1 1988 2019