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: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia
disease 0.400 None 0.941 1 0 1983 2008
Entrez Id: 3045
Gene Symbol: HBD
HBD
hemoglobin subunit delta 0.659 0.231
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia
disease 0.350 None 1.000 1 0 1982 1992
Entrez Id: 3047
Gene Symbol: HBG1
HBG1
hemoglobin subunit gamma 1 0.615 0.538 0.57
CUI: C0271985
Disease: Delta-Beta Thalassemia
Delta-Beta Thalassemia
disease 0.350 None 0.833 1 0 1982 2008