increased circulating cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005178
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Genes

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

Symbol Name
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ADCY10 adenylate cyclase 10 (soluble)
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
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
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
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
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
FTO fat mass and obesity associated
G6PC glucose-6-phosphatase, catalytic subunit
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
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
LAMB2 laminin, beta 2 (laminin S)
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
MPV17 MpV17 mitochondrial inner membrane protein
MRAP2 melanocortin 2 receptor accessory protein 2
NCOA6 nuclear receptor coactivator 6
NMU neuromedin U
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
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
PDZK1 PDZ domain containing 1
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
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
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
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
SSTR1 somatostatin receptor 1
STK32A serine/threonine kinase 32A
TBC1D2B TBC1 domain family, member 2B
TCF7 transcription factor 7 (T-cell specific, HMG-box)
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
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