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: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.200 None 1.000 16 12 2006 2019
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.130 None 1.000 3 1 2008 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.590 0.692 4.2E-08
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5
chaperonin containing TCP1 subunit 5 0.663 0.462 1.00
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 6307
Gene Symbol: MSMO1
MSMO1
methylsterol monooxygenase 1 0.729 0.385 9.0E-02
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 0.700 0.385 2.7E-08
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.100 None 0 0
Entrez Id: 338
Gene Symbol: APOB
APOB
apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.080 None 1.000 8 1 2007 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.050 None 1.000 5 0 2004 2017
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 0 2004 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 0 2004 2018
Entrez Id: 960
Gene Symbol: CD44
CD44
CD44 molecule (Indian blood group) 0.363 0.962 2.4E-07
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 0 2010 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 1 2004 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 0 2004 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.030 None 1.000 3 3 1995 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2001 2020
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2007 2008
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2010 2017
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
C-X-C motif chemokine receptor 4 0.362 0.923 1.8E-02
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2009 2012
Entrez Id: 7555
Gene Symbol: CNBP
CNBP
CCHC-type zinc finger nucleic acid binding protein 0.556 0.692 0.96
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease 0.020 None 1.000 2 0 2004 2016