abnormal circulating ldl cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the 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_0000181)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000181
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Genes

92 gene mutations causing the abnormal circulating ldl cholesterol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACTB actin, beta
ADIPOR2 adiponectin receptor 2
AKAP9 A kinase (PRKA) anchor protein 9
ANGPTL3 angiopoietin-like 3
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC3 apolipoprotein C-III
APOE apolipoprotein E
BBS4 Bardet-Biedl syndrome 4
CBX6 chromobox homolog 6
CCDC77 coiled-coil domain containing 77
CDH23 cadherin-related 23
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHD7 chromodomain helicase DNA binding protein 7
CPE carboxypeptidase E
CSPG4 chondroitin sulfate proteoglycan 4
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBN1 drebrin 1
FFAR4 free fatty acid receptor 4
GCGR glucagon receptor
GHR growth hormone receptor
GPR12 G protein-coupled receptor 12
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
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
LPIN1 lipin 1
LPL lipoprotein lipase
MALRD1 MAM and LDL receptor class A domain containing 1
MBTPS1 membrane-bound transcription factor peptidase, site 1
MECP2 methyl CpG binding protein 2
MOGAT2 monoacylglycerol O-acyltransferase 2
MRAP2 melanocortin 2 receptor accessory protein 2
MTA1 metastasis associated 1
MTTP microsomal triglyceride transfer protein
MYO6 myosin VI
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1L1 NPC1-like 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR2C2 nuclear receptor subfamily 2, group C, member 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OED Oregon eye disease
OSTM1 osteopetrosis associated transmembrane protein 1
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PCSK9 proprotein convertase subtilisin/kexin type 9
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PLTP phospholipid transfer protein
PON1 paraoxonase 1
PON2 paraoxonase 2
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCI protein kinase C, iota
PRLHR prolactin releasing hormone receptor
REG3G regenerating islet-derived 3 gamma
SAMD4A sterile alpha motif domain containing 4A
SAR1B secretion associated, Ras related GTPase 1B
SCP2 sterol carrier protein 2
SEC16B SEC16 homolog B (S. cerevisiae)
SEC24A SEC24 family member A
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SETD1A SET domain containing 1A
SFRP5 secreted frizzled-related protein 5
SIRT3 sirtuin 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
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
SOAT2 sterol O-acyltransferase 2
STARD4 StAR-related lipid transfer (START) domain containing 4
STK32A serine/threonine kinase 32A
SYT1 synaptotagmin I
TBC1D10A TBC1 domain family, member 10A
TLR2 toll-like receptor 2
TMC6 transmembrane channel-like 6
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UBE3B ubiquitin protein ligase E3B
USP33 ubiquitin specific peptidase 33
UTS2 urotensin 2
WBP5 WW domain binding protein 5
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble