increased circulating ldl cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description 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 (Mammalian Phenotype Ontology, MP_0000182)
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42 gene mutations causing the increased circulating ldl cholesterol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOE apolipoprotein E
BBS4 Bardet-Biedl syndrome 4
CCDC77 coiled-coil domain containing 77
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CPE carboxypeptidase E
CSPG4 chondroitin sulfate proteoglycan 4
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
FFAR4 free fatty acid receptor 4
GCGR glucagon receptor
GPR12 G protein-coupled receptor 12
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEP leptin
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
MBTPS1 membrane-bound transcription factor peptidase, site 1
MECP2 methyl CpG binding protein 2
MRAP2 melanocortin 2 receptor accessory protein 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
PLTP phospholipid transfer protein
PON1 paraoxonase 1
PRKCI protein kinase C, iota
PRLHR prolactin releasing hormone receptor
REG3G regenerating islet-derived 3 gamma
SAMD4A sterile alpha motif domain containing 4A
SCP2 sterol carrier protein 2
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SFRP5 secreted frizzled-related protein 5
SIRT3 sirtuin 3
SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SMYD2 SET and MYND domain containing 2
SNAP47 synaptosomal-associated protein, 47kDa
STK32A serine/threonine kinase 32A
USP33 ubiquitin specific peptidase 33
WBP5 WW domain binding protein 5