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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.900 strong 0.977 2 0 1982 2020
Entrez Id: 338
Gene Symbol: APOB
APOB
apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.900 strong 0.985 2 0 1987 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.700 strong 0.966 1 0 2003 2020
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.680 None 1.000 0 0 1993 2019
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: 3990
Gene Symbol: LIPC
LIPC
lipase C, hepatic type 0.585 0.654 3.3E-07
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.540 None 1.000 0 0 1995 2019
Entrez Id: 1071
Gene Symbol: CETP
CETP
cholesteryl ester transfer protein 0.512 0.731 1.2E-23
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.500 None 0.923 0 0 1995 2019
Entrez Id: 26119
Gene Symbol: LDLRAP1
LDLRAP1
low density lipoprotein receptor adaptor protein 1 0.641 0.538 6.5E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.490 strong 1.000 1 0 2002 2013
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
ATP binding cassette subfamily G member 8 0.573 0.538 2.4E-20
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.470 strong 1.000 1 0 2004 2018
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
ATP binding cassette subfamily G member 5 0.592 0.577 3.1E-21
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.460 strong 1.000 0 0 2004 2019
Entrez Id: 345
Gene Symbol: APOC3
APOC3
apolipoprotein C3 0.531 0.731 1.0E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.460 None 1.000 0 0 2001 2019
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.440 strong 1.000 0 0 2013 2019
Entrez Id: 335
Gene Symbol: APOA1
APOA1
apolipoprotein A1 0.429 0.885 5.5E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.360 None 0.833 0 0 1990 2019
Entrez Id: 949
Gene Symbol: SCARB1
SCARB1
scavenger receptor class B member 1 0.559 0.731 6.6E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.350 None 1.000 0 0 2003 2019
Entrez Id: 26228
Gene Symbol: STAP1
STAP1
signal transducing adaptor family member 1 0.792 0.231 1.7E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.310 limited 1.000 1 0 2014 2018
Entrez Id: 2819
Gene Symbol: GPD1
GPD1
glycerol-3-phosphate dehydrogenase 1 0.670 0.500 5.6E-03
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.310 None 1.000 0 0 1994 1994
Entrez Id: 338328
Gene Symbol: GPIHBP1
GPIHBP1
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 0.686 0.269 0.14
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0
Entrez Id: 27329
Gene Symbol: ANGPTL3
ANGPTL3
angiopoietin like 3 0.584 0.577 1.6E-13
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0
Entrez Id: 64788
Gene Symbol: LMF1
LMF1
lipase maturation factor 1 0.769 0.231 5.1E-16
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0
Entrez Id: 3931
Gene Symbol: LCAT
LCAT
lecithin-cholesterol acyltransferase 0.588 0.654 8.1E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.300 None 0 0