Source: ORPHANET

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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		disease 0.700 None 1.000 1 0 1979 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: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		disease 0.600 None 0.962 1 0 1979 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 1 0 1985 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
Hemoglobin E/beta thalassemia disease 		disease 0.400 None 1.000 1 0 2011 2011
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia 		disease 0.400 None 0.941 1 0 1983 2008
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 1 0 2011 2016
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0272080
Disease: Hemoglobin D disease
Hemoglobin D disease 		disease 0.300 None 1.000 2 0 2001 2014
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0019021
Disease: Hemoglobin C Disease
Hemoglobin C Disease 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		disease 0.300 None 1.000 1 0 1993 1993