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: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.800 strong 0.985 2 0 1979 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease 0.600 strong 0.969 2 0 1979 2017
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0700299
Disease: Heinz Body Anemias
Heinz Body Anemias 		disease 0.600 strong 1.000 1 0 1991 1991
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.500 strong 1.000 0 0 1978 2015
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C3841459
Disease: Hb H disease
Hb H disease 		disease 0.400 strong 0.955 1 0 1979 2015
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome 		disease 0.330 strong 0.750 1 0 1989 2013
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C3278365
Disease: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
HEMOGLOBIN H HYDROPS FETALIS SYNDROME 		disease 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		disease 0.300 strong 1.000 1 0 2005 2005