Phenotype: increased circulating LDL cholesterol level

Definition greater amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions

Synonyms
  • high LDL cholesterol level
  • high LDL cholesterol level
  • elevated circulating LDL cholesterol level
  • elevated circulating LDL cholesterol level
  • increased circulating beta-lipoprotein level
  • elevated LDL cholesterol level
  • increased LDL cholesterol level
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Phenotype associations stats

1.05% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased circulating LDL cholesterol level (14/1331)

0.78% females (10/1280) 0.94% males (12/1277)

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Gene variants with increased circulating LDL cholesterol level

Total number of significant genotype-phenotype associations: 22

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value Data
Apoe
Apoetm1Unc
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 2.02E-19
Duoxa2
Duoxa2tm1b(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 2.88E-10
Reg3g
Reg3gtm1a(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 1.02E-9
Smyd2
Smyd2tm1a(KOMP)Wtsi
HOM Male postnatal increased circulating LDL cholesterol level Fasted Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 6.76E-7
Akt2
Akt2tm1Wcs
HOM Female postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 1.79E-6
Cdca8
Cdca8tm1a(KOMP)Wtsi
HET Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 4.77E-6
Gm648
Gm648tm1e(KOMP)Wtsi
HEM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 5.42E-6
Stk32a
Stk32atm1a(EUCOMM)Wtsi
HOM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 7.94E-6
Usp11
Usp11tm1(KOMP)Wtsi
HEM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 1.83E-5
Tnfaip1
Tnfaip1tm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Fasted Clinical Chemistry | LDL-cholesterol MRC Harwell | EuroPhenome 3.57E-5
Mtor
Mtortm1a(EUCOMM)Wtsi
HET Female postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 4.77E-5
Clpp
Clpptm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 5.51E-5
Eps15
Eps15tm1a(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 5.58E-5
Prrt2
Prrt2tm1a(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 6.75E-5

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