Source: ALL

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: 255738
Gene Symbol: PCSK9
PCSK9 		proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.030 None 1.000 3 1 2005 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.030 None 1.000 3 0 1989 2014
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.020 None 1.000 2 2 1988 1998
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.020 None 1.000 2 0 2013 2017
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1 		angiotensin II receptor type 1 0.423 0.846 5.3E-04
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6721
Gene Symbol: SREBF2
SREBF2 		sterol regulatory element binding transcription factor 2 0.566 0.577 0.21
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8 		ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5 		ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4018
Gene Symbol: LPA
LPA 		lipoprotein(a) 0.444 0.769 6.6E-89
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7555
Gene Symbol: CNBP
CNBP 		CCHC-type zinc finger nucleic acid binding protein 0.556 0.692 0.96
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia 		disease 0.010 None 1.000 1 0 2002 2002