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: 775
Gene Symbol: CACNA1C
CACNA1C 		calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease 0.300 strong 1.000 1 0 2018 2018