Source: GENOMICS_ENGLAND

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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease 0.800 None 0.994 1 0 1957 2020
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 1 0 1961 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
Beta Thalassemia, Dominant Inclusion Body Type 		disease 0.700 strong 1.000 1 0 2010 2011
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 1 0 2010 2010
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease 0.320 strong 1.000 1 0 2005 2014
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C3889261
Disease: Other License Status
Other License Status 		phenotype 0.300 strong 0 0