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 3 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 1 0 1987 2019
Entrez Id: 1581
Gene Symbol: CYP7A1
CYP7A1
cytochrome P450 family 7 subfamily A member 1 0.576 0.615 2.5E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.700 None 1.000 1 0 1993 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.700 None 0.957 1 0 1985 2019
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.600 None 1.000 1 0 1978 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.540 None 1.000 1 0 2012 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 1 0 1995 2019
Entrez Id: 6721
Gene Symbol: SREBF2
SREBF2
sterol regulatory element binding transcription factor 2 0.566 0.577 0.21
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.260 None 0.857 1 0 2002 2019
Entrez Id: 6720
Gene Symbol: SREBF1
SREBF1
sterol regulatory element binding transcription factor 1 0.518 0.808 1.5E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.220 None 0.667 1 0 2006 2008
Entrez Id: 2936
Gene Symbol: GSR
GSR
glutathione-disulfide reductase 0.494 0.846 1.3E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.210 None 1.000 2 0 2014 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.210 None 1.000 1 0 2007 2019
Entrez Id: 836
Gene Symbol: CASP3
CASP3
caspase 3 0.351 0.923 0.10
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.210 None 1.000 1 0 2012 2014
Entrez Id: 1595
Gene Symbol: CYP51A1
CYP51A1
cytochrome P450 family 51 subfamily A member 1 0.653 0.615 1.5E-07
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.210 None 1.000 1 0 2006 2019
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CD40 ligand 0.414 0.846 0.72
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 2 0 2011 2016
Entrez Id: 4282
Gene Symbol: MIF
MIF
macrophage migration inhibitory factor 0.412 0.885 1.2E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 1997 1997
Entrez Id: 57223
Gene Symbol: PPP4R3B
PPP4R3B
protein phosphatase 4 regulatory subunit 3B 0.861 0.192 0.71
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 2009 2009
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 2010 2010
Entrez Id: 22937
Gene Symbol: SCAP
SCAP
SREBF chaperone 0.682 0.462 2.9E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 842
Gene Symbol: CASP9
CASP9
caspase 9 0.458 0.808 7.4E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 2014 2014
Entrez Id: 958
Gene Symbol: CD40
CD40
CD40 molecule 0.396 0.846 0.85
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 1435
Gene Symbol: CSF1
CSF1
colony stimulating factor 1 0.473 0.808 1.00
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease 0.200 None 1.000 1 0 1997 1997