Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease 0.800 strong 0.994 345 85 1961 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease 0.800 None 0.994 3 36 1957 2020
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
Beta Thalassemia, Dominant Inclusion Body Type
disease 0.700 strong 1.000 0 14 2010 2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease 0.700 None 1.000 0 7 1979 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias
disease 0.600 strong 1.000 0 17 2010 2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies
group 0.500 None 1.000 106 35 1969 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0024530
Disease: Malaria
Malaria
disease 0.500 None 0.846 3 2 1999 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.500 None 1.000 0 11 1985 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
disease 0.500 None 1.000 0 7 1985 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease
disease 0.400 None 1.000 4 1 2011 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
Hemoglobin E/beta thalassemia disease
disease 0.400 None 1.000 0 1 2011 2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.400 None 1.000 0 0 2018 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
phenotype 0.400 strong 1.000 0 12 2010 2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002871
Disease: Anemia
Anemia
disease 0.400 None 1.000 0 1 1980 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C1527405
Disease: Erythrocytosis
Erythrocytosis
phenotype 0.400 None 1.000 0 1 1975 1982
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease 0.200 None 0.983 0 28 1972 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia
disease 0.200 None 0.955 0 44 1975 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C4274391
Disease: Dominant beta-thalassemia
Dominant beta-thalassemia
disease 0.160 None 0.833 0 2 1988 2005
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group 0.120 None 0.500 0 0 2010 2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia
disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0011847
Disease: Diabetes
Diabetes
disease 0.110 None 1.000 1 1 2019 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.110 None 1.000 1 1 2019 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group 0.110 None 1.000 0 0 2018 2018
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease 0.110 None 1.000 0 2 2012 2012
Entrez Id: 3043
Gene Symbol: HBB
HBB
hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype 0.110 None 1.000 0 0 2006 2006