abnormal circulating cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the amount in the blood 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_0000180)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000180
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Genes

318 gene mutations causing the abnormal circulating 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
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACOT11 acyl-CoA thioesterase 11
ACTB actin, beta
ADCY10 adenylate cyclase 10 (soluble)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
ADORA2B adenosine A2b receptor
AEBP1 AE binding protein 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHCYL1 adenosylhomocysteinase-like 1
AKAP9 A kinase (PRKA) anchor protein 9
ALMS1 Alstrom syndrome protein 1
ALOX5 arachidonate 5-lipoxygenase
AMACR alpha-methylacyl-CoA racemase
ANGPTL3 angiopoietin-like 3
ANGPTL4 angiopoietin-like 4
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
APOA4 apolipoprotein A-IV
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC1 apolipoprotein C-I
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APOF apolipoprotein F
APOM apolipoprotein M
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
BHMT betaine--homocysteine S-methyltransferase
BRD2 bromodomain containing 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CAT catalase
CBX6 chromobox homolog 6
CCDC77 coiled-coil domain containing 77
CD36 CD36 molecule (thrombospondin receptor)
CDH23 cadherin-related 23
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CES1 carboxylesterase 1
CHD7 chromodomain helicase DNA binding protein 7
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
CRHR2 corticotropin releasing hormone receptor 2
CSPG4 chondroitin sulfate proteoglycan 4
CTF1 cardiotrophin 1
CXCL14 chemokine (C-X-C motif) ligand 14
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
DBN1 drebrin 1
DFNB31 deafness, autosomal recessive 31
DHCR24 24-dehydrocholesterol reductase
DHRS2 dehydrogenase/reductase (SDR family) member 2
DIO1 deiodinase, iodothyronine, type I
DIXDC1 DIX domain containing 1
DLG2 discs, large homolog 2 (Drosophila)
DLK1 delta-like 1 homolog (Drosophila)
DLL1 delta-like 1 (Drosophila)
DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma
DUSP1 dual specificity phosphatase 1
ELMOD1 ELMO/CED-12 domain containing 1
ELOVL6 ELOVL fatty acid elongase 6
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ESR1 estrogen receptor 1
FABP2 fatty acid binding protein 2, intestinal
FABP3 fatty acid binding protein 3, muscle and heart
FABP6 fatty acid binding protein 6, ileal
FAM117B family with sequence similarity 117, member B
FAM134C family with sequence similarity 134, member C
FFAR4 free fatty acid receptor 4
FGF10 fibroblast growth factor 10
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGL1 fibrinogen-like 1
FOXA1 forkhead box A1
FOXO1 forkhead box O1
FTO fat mass and obesity associated
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCGR glucagon receptor
GCK glucokinase (hexokinase 4)
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GNAS GNAS complex locus
GNMT glycine N-methyltransferase
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
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
GUSB glucuronidase, beta
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
HPN hepsin
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
IL10 interleukin 10
IL1RN interleukin 1 receptor antagonist
INPPL1 inositol polyphosphate phosphatase-like 1
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
JAK1 Janus kinase 1
JUND jun D proto-oncogene
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KDM3A lysine (K)-specific demethylase 3A
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLB klotho beta
KMT2B lysine (K)-specific methyltransferase 2B
KPNA1 karyopherin alpha 1 (importin alpha 5)
LAMB2 laminin, beta 2 (laminin S)
LCAT lecithin-cholesterol acyltransferase
LCH Lentil agglutinin-binding
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
MALRD1 MAM and LDL receptor class A domain containing 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MARK2 MAP/microtubule affinity-regulating kinase 2
MARK4 MAP/microtubule affinity-regulating kinase 4
MBTPS1 membrane-bound transcription factor peptidase, site 1
MCF2L MCF.2 cell line derived transforming sequence-like
MECP2 methyl CpG binding protein 2
MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
MIA2 melanoma inhibitory activity 2
MIER1 mesoderm induction early response 1, transcriptional regulator
MIR122 microRNA 122
MLXIPL MLX interacting protein-like
MOGAT2 monoacylglycerol O-acyltransferase 2
MPV17 MpV17 mitochondrial inner membrane protein
MRAP2 melanocortin 2 receptor accessory protein 2
MSTN myostatin
MTA1 metastasis associated 1
MTTP microsomal triglyceride transfer protein
MYO6 myosin VI
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NCOA3 nuclear receptor coactivator 3
NCOA6 nuclear receptor coactivator 6
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
NMU neuromedin U
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC1L1 NPC1-like 1
NPHP3 nephronophthisis 3 (adolescent)
NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
NR0B2 nuclear receptor subfamily 0, group B, member 2
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
NR2C2 nuclear receptor subfamily 2, group C, member 2
NR5A2 nuclear receptor subfamily 5, group A, member 2
NRCAM neuronal cell adhesion molecule
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCA2 oculocutaneous albinism II
OED Oregon eye disease
OSBPL8 oxysterol binding protein-like 8
OSMR oncostatin M receptor
OSTM1 osteopetrosis associated transmembrane protein 1
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PARVB parvin, beta
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE10A phosphodiesterase 10A
PDZK1 PDZ domain containing 1
PEMT phosphatidylethanolamine N-methyltransferase
PEX2 peroxisomal biogenesis factor 2
PHYH phytanoyl-CoA 2-hydroxylase
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PITX3 paired-like homeodomain 3
PLA2G12B phospholipase A2, group XIIB
PLA2G15 phospholipase A2, group XV
PLAGL2 pleiomorphic adenoma gene-like 2
PLSCR3 phospholipid scramblase 3
PLTP phospholipid transfer protein
PLVAP plasmalemma vesicle associated protein
PNLIP pancreatic lipase
PNPLA2 patatin-like phospholipase domain containing 2
PON1 paraoxonase 1
PON2 paraoxonase 2
POR P450 (cytochrome) oxidoreductase
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta
PRKCI protein kinase C, iota
PRLHR prolactin releasing hormone receptor
PSEN1 presenilin 1
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
REG3G regenerating islet-derived 3 gamma
RGS4 regulator of G-protein signaling 4
RNF10 ring finger protein 10
RORA RAR-related orphan receptor A
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
SAR1B secretion associated, Ras related GTPase 1B
SCARB1 scavenger receptor class B, member 1
SCIMP SLP adaptor and CSK interacting membrane protein
SCP2 sterol carrier protein 2
SEC14L2 SEC14-like 2 (S. cerevisiae)
SEC16B SEC16 homolog B (S. cerevisiae)
SEC24A SEC24 family member A
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
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERTAD2 SERTA domain containing 2
SETD1A SET domain containing 1A
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
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
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
SLC51A solute carrier family 51, alpha subunit
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
STARD10 StAR-related lipid transfer (START) domain containing 10
STARD4 StAR-related lipid transfer (START) domain containing 4
STEAP4 STEAP family member 4
STK32A serine/threonine kinase 32A
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYT1 synaptotagmin I
TBC1D10A TBC1 domain family, member 10A
TBC1D2B TBC1 domain family, member 2B
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TLR2 toll-like receptor 2
TLR5 toll-like receptor 5
TM9SF4 transmembrane 9 superfamily protein member 4
TMC6 transmembrane channel-like 6
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
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
TXNIP thioredoxin interacting protein
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UBE3B ubiquitin protein ligase E3B
UHMK1 U2AF homology motif (UHM) kinase 1
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USP33 ubiquitin specific peptidase 33
UTS2 urotensin 2
VANGL2 VANGL planar cell polarity protein 2
VLDLR very low density lipoprotein receptor
WBP5 WW domain binding protein 5
WRN Werner syndrome, RecQ helicase-like
WWOX WW domain containing oxidoreductase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble