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: 28
Gene Symbol: ABO
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase 0.427 0.885
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 3 2012 2019
Entrez Id: 29881
Gene Symbol: NPC1L1
NPC1L1
NPC1 like intracellular cholesterol transporter 1 0.656 0.423 2.3E-20
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 2 2010 2018
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
very low density lipoprotein receptor 0.558 0.692 2.0E-11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 6 2012 2018
Entrez Id: 158219
Gene Symbol: TTC39B
TTC39B
tetratricopeptide repeat domain 39B 0.890 0.154 2.2E-15
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2017
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2012 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 4 2012 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 17 2012 2019
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 2 2012 2013
Entrez Id: 6484
Gene Symbol: ST3GAL4
ST3GAL4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 0.588 0.692 4.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 64757
Gene Symbol: MTARC1
MTARC1
mitochondrial amidoxime reducing component 1 0.821 0.192 4.5E-08
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 2524
Gene Symbol: FUT2
FUT2
fucosyltransferase 2 0.552 0.731 5.3E-14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2013
Entrez Id: 341
Gene Symbol: APOC1
APOC1
apolipoprotein C1 0.581 0.577 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 4 2012 2019
Entrez Id: 6580
Gene Symbol: SLC22A1
SLC22A1
solute carrier family 22 member 1 0.556 0.731 1.5E-22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2019
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 2 2012 2019
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 2444
Gene Symbol: FRK
FRK
fyn related Src family tyrosine kinase 0.674 0.500 1.8E-12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2017
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.566 0.692 1.5E-07
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2013
Entrez Id: 5819
Gene Symbol: NECTIN2
NECTIN2
nectin cell adhesion molecule 2 0.575 0.769 0.97
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 9 2012 2019
Entrez Id: 7150
Gene Symbol: TOP1
TOP1
DNA topoisomerase I 0.542 0.692 1.00
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 80307
Gene Symbol: FER1L4
FER1L4
fer-1 like family member 4 (pseudogene) 0.711 0.346
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2010 2018
Entrez Id: 101928694
Gene Symbol: LIPC-AS1
LIPC-AS1
LIPC antisense RNA 1 0.839 0.154
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 10 2012 2018
Entrez Id: 54577
Gene Symbol: UGT1A7
UGT1A7
UDP glucuronosyltransferase family 1 member A7 0.550 0.692 8.7E-14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 1 2012 2018
Entrez Id: 5465
Gene Symbol: PPARA
PPARA
peroxisome proliferator activated receptor alpha 0.432 0.885 3.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype 0.100 None 1.000 2 2 2012 2013