increased cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues (Mammalian Phenotype Ontology, MP_0003982)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003982
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Genes

199 gene mutations causing the increased cholesterol level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ADCY10 adenylate cyclase 10 (soluble)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOR1 adiponectin receptor 1
ADORA2B adenosine A2b receptor
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ALMS1 Alstrom syndrome protein 1
ALOX5 arachidonate 5-lipoxygenase
ANGPTL6 angiopoietin-like 6
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC1 apolipoprotein C-I
APOE apolipoprotein E
APOF apolipoprotein F
AQP12A aquaporin 12A
AQP8 aquaporin 8
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ARSK arylsulfatase family, member K
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATXN2 ataxin 2
BAG3 BCL2-associated athanogene 3
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BCO1 beta-carotene oxygenase 1
BRD2 bromodomain containing 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CCDC77 coiled-coil domain containing 77
CD36 CD36 molecule (thrombospondin receptor)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CIB2 calcium and integrin binding family member 2
CLOCK clock circadian regulator
CLPS colipase, pancreatic
COL4A5 collagen, type IV, alpha 5
CPE carboxypeptidase E
CRH corticotropin releasing hormone
CSPG4 chondroitin sulfate proteoglycan 4
CTF1 cardiotrophin 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DDIT3 DNA-damage-inducible transcript 3
DFNB31 deafness, autosomal recessive 31
DIXDC1 DIX domain containing 1
DLK1 delta-like 1 homolog (Drosophila)
DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ESR1 estrogen receptor 1
FABP3 fatty acid binding protein 3, muscle and heart
FFAR4 free fatty acid receptor 4
FGF10 fibroblast growth factor 10
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FLG filaggrin
FTO fat mass and obesity associated
G6PC glucose-6-phosphatase, catalytic subunit
GALR3 galanin receptor 3
GCGR glucagon receptor
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GNMT glycine N-methyltransferase
GPBAR1 G protein-coupled bile acid receptor 1
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GPR12 G protein-coupled receptor 12
GPR26 G protein-coupled receptor 26
GPR39 G protein-coupled receptor 39
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HNF1A HNF1 homeobox A
HPN hepsin
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IL10 interleukin 10
ILKAP integrin-linked kinase-associated serine/threonine phosphatase
IRS2 insulin receptor substrate 2
JUND jun D proto-oncogene
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KDM3A lysine (K)-specific demethylase 3A
KMT2B lysine (K)-specific methyltransferase 2B
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
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
LIPC lipase, hepatic
LIPE lipase, hormone-sensitive
LIPG lipase, endothelial
LMF1 lipase maturation factor 1
LPIN1 lipin 1
LPL lipoprotein lipase
LRP5 low density lipoprotein receptor-related protein 5
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBTPS1 membrane-bound transcription factor peptidase, site 1
MECP2 methyl CpG binding protein 2
MIR122 microRNA 122
MPV17 MpV17 mitochondrial inner membrane protein
MRAP2 melanocortin 2 receptor accessory protein 2
MTTP microsomal triglyceride transfer protein
NCOA6 nuclear receptor coactivator 6
NEU4 sialidase 4
NMU neuromedin U
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRCAM neuronal cell adhesion molecule
OCA2 oculocutaneous albinism II
OSBPL8 oxysterol binding protein-like 8
OSMR oncostatin M receptor
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
PCTP phosphatidylcholine transfer protein
PDZK1 PDZ domain containing 1
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAGL2 pleiomorphic adenoma gene-like 2
PLTP phospholipid transfer protein
PLVAP plasmalemma vesicle associated protein
PON1 paraoxonase 1
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PRKCI protein kinase C, iota
PRLHR prolactin releasing hormone receptor
PSEN1 presenilin 1
REG3G regenerating islet-derived 3 gamma
RGN regucalcin
RGS4 regulator of G-protein signaling 4
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RSBN1 round spermatid basic protein 1
RSC1A1 regulatory solute carrier protein, family 1, member 1
SAA1 serum amyloid A1
SAMD4A sterile alpha motif domain containing 4A
SCARB1 scavenger receptor class B, member 1
SCIMP SLP adaptor and CSK interacting membrane protein
SCP2 sterol carrier protein 2
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SERF1A small EDRK-rich factor 1A (telomeric)
SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
SFRP5 secreted frizzled-related protein 5
SIK3 SIK family kinase 3
SIRT2 sirtuin 2
SIRT3 sirtuin 3
SIRT6 sirtuin 6
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMYD2 SET and MYND domain containing 2
SNAP47 synaptosomal-associated protein, 47kDa
SOAT1 sterol O-acyltransferase 1
SOAT2 sterol O-acyltransferase 2
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SREBF1 sterol regulatory element binding transcription factor 1
SSTR1 somatostatin receptor 1
STARD3 StAR-related lipid transfer (START) domain containing 3
STK32A serine/threonine kinase 32A
TBC1D2B TBC1 domain family, member 2B
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TERF2IP telomeric repeat binding factor 2, interacting protein
TLR5 toll-like receptor 5
TM9SF4 transmembrane 9 superfamily protein member 4
TMEM68 transmembrane protein 68
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNS2 tensin 2
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
TXNIP thioredoxin interacting protein
TYK2 tyrosine kinase 2
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UHMK1 U2AF homology motif (UHM) kinase 1
USP33 ubiquitin specific peptidase 33
UTS2 urotensin 2
VLDLR very low density lipoprotein receptor
WBP5 WW domain binding protein 5
WRN Werner syndrome, RecQ helicase-like