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

1.03% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased circulating LDL cholesterol level (19/1851)

0.63% females (11/1758) 1.01% males (18/1776)

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Gene variants with increased circulating LDL cholesterol level

Total number of significant genotype-phenotype associations: 29

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 2.72E-10
Reg3g
Reg3gtm1a(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 2.19E-9
Ap2a2
Ap2a2em1(IMPC)Wtsi
HET Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 1.28E-8
Ehmt1
Ehmt1tm1b(EUCOMM)Hmgu
HET Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 5.45E-8
Snx8
Snx8tm2a(EUCOMM)Hmgu
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 1.31E-7
Smyd2
Smyd2tm1a(KOMP)Wtsi
HOM Male postnatal increased circulating LDL cholesterol level Fasted Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 6.76E-7
D6Wsu163e
D6Wsu163etm1b(EUCOMM)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 8.97E-7
Akt2
Akt2tm1Wcs
HOM Female postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 1.79E-6
Pdzk1
Pdzk1tm2b(EUCOMM)Wtsi
HET Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 4.85E-6
Gm648
Gm648tm1e(KOMP)Wtsi
HEM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 7.98E-6
Clpp
Clpptm1a(EUCOMM)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 1.37E-5
Stk32a
Stk32atm1a(EUCOMM)Wtsi
HOM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 2.84E-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
Usp11
Usp11tm1(KOMP)Wtsi
HEM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 4.05E-5
Lars
Larstm1b(KOMP)Wtsi
HET Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 4.68E-5
Eps15
Eps15tm1a(KOMP)Wtsi
HOM Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | EuroPhenome 4.68E-5
Glra4
Glra4tm1b(KOMP)Wtsi
HEM Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 6.05E-5
Kif18b
Kif18btm1a(EUCOMM)Wtsi
HET Female Male postnatal increased circulating LDL cholesterol level Clinical Chemistry | LDL-cholesterol WTSI | IMPC 9.51E-5

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