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: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 2 0 1964 2020
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.700 strong 0.986 2 0 1979 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9 		proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.500 strong 0.977 1 0 2003 2020
Entrez Id: 26119
Gene Symbol: LDLRAP1
LDLRAP1 		low density lipoprotein receptor adaptor protein 1 0.641 0.538 6.5E-06
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.400 strong 1.000 1 0 2002 2019
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.330 strong 1.000 1 0 2010 2018
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.320 strong 1.000 1 0 2009 2019
Entrez Id: 6721
Gene Symbol: SREBF2
SREBF2 		sterol regulatory element binding transcription factor 2 0.566 0.577 0.21
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.310 None 1.000 1 0 2002 2018