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: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
disease 1.000 None 0.991 1 0 1999 2019
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial
disease 0.800 limited 0.972 0 0 1999 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.550 limited 1.000 0 0 2002 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease 0.520 limited 1.000 0 0 2005 2019