decreased cholesterol level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description less 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_0003983)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003983
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Genes

184 gene mutations causing the decreased 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
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
ACOT13 acyl-CoA thioesterase 13
ACTB actin, beta
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOR2 adiponectin receptor 2
ADORA2B adenosine A2b receptor
AEBP1 AE binding protein 1
AGRP agouti related neuropeptide
AHCYL1 adenosylhomocysteinase-like 1
AKAP9 A kinase (PRKA) anchor protein 9
ANGPTL3 angiopoietin-like 3
ANGPTL4 angiopoietin-like 4
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APOM apolipoprotein M
BAG3 BCL2-associated athanogene 3
BHMT betaine--homocysteine S-methyltransferase
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
BTK Bruton agammaglobulinemia tyrosine kinase
CAT catalase
CBX6 chromobox homolog 6
CD44 CD44 molecule (Indian blood group)
CDH23 cadherin-related 23
CES1 carboxylesterase 1
CHD7 chromodomain helicase DNA binding protein 7
CLPS colipase, pancreatic
CRHR2 corticotropin releasing hormone receptor 2
CXCL14 chemokine (C-X-C motif) ligand 14
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
DBN1 drebrin 1
DGAT1 diacylglycerol O-acyltransferase 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHRS2 dehydrogenase/reductase (SDR family) member 2
DIO1 deiodinase, iodothyronine, type I
DLG2 discs, large homolog 2 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DUSP1 dual specificity phosphatase 1
ELMOD1 ELMO/CED-12 domain containing 1
ELOVL6 ELOVL fatty acid elongase 6
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
FA2H fatty acid 2-hydroxylase
FABP2 fatty acid binding protein 2, intestinal
FABP6 fatty acid binding protein 6, ileal
FAM117B family with sequence similarity 117, member B
FAM134C family with sequence similarity 134, member C
FGL1 fibrinogen-like 1
FOXA1 forkhead box A1
FOXO1 forkhead box O1
G6PC3 glucose 6 phosphatase, catalytic, 3
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GNAS GNAS complex locus
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GUSB glucuronidase, beta
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
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
INPP5K inositol polyphosphate-5-phosphatase K
INPPL1 inositol polyphosphate phosphatase-like 1
IRS1 insulin receptor substrate 1
JAK1 Janus kinase 1
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLB klotho beta
KPNA1 karyopherin alpha 1 (importin alpha 5)
LCAT lecithin-cholesterol acyltransferase
LCH Lentil agglutinin-binding
LDLR low density lipoprotein receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LPIN1 lipin 1
LPL lipoprotein lipase
MALRD1 MAM and LDL receptor class A domain containing 1
MARK2 MAP/microtubule affinity-regulating kinase 2
MARK4 MAP/microtubule affinity-regulating kinase 4
MBP myelin basic protein
MBTPS1 membrane-bound transcription factor peptidase, site 1
MCF2L MCF.2 cell line derived transforming sequence-like
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
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
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
NPC1 Niemann-Pick disease, type C1
NPC1L1 NPC1-like 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NR2C2 nuclear receptor subfamily 2, group C, member 2
NR5A2 nuclear receptor subfamily 5, group A, 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
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
PCTP phosphatidylcholine transfer protein
PDE10A phosphodiesterase 10A
PEMT phosphatidylethanolamine N-methyltransferase
PEX2 peroxisomal biogenesis factor 2
PHYH phytanoyl-CoA 2-hydroxylase
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
PLP1 proteolipid protein 1
PLTP phospholipid transfer protein
PLVAP plasmalemma vesicle associated protein
PNLIP pancreatic lipase
PNPLA2 patatin-like phospholipase domain containing 2
PON2 paraoxonase 2
POR P450 (cytochrome) oxidoreductase
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
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
RNF10 ring finger protein 10
RORA RAR-related orphan receptor A
SAMD4A sterile alpha motif domain containing 4A
SAR1B secretion associated, Ras related GTPase 1B
SC5D sterol-C5-desaturase
SCP2 sterol carrier protein 2
SEC14L2 SEC14-like 2 (S. cerevisiae)
SEC16B SEC16 homolog B (S. cerevisiae)
SEC24A SEC24 family member A
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERTAD2 SERTA domain containing 2
SETD1A SET domain containing 1A
SIK3 SIK family kinase 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC51A solute carrier family 51, alpha subunit
SOAT2 sterol O-acyltransferase 2
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
STARD10 StAR-related lipid transfer (START) domain containing 10
STARD4 StAR-related lipid transfer (START) domain containing 4
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYT1 synaptotagmin I
TBC1D10A TBC1 domain family, member 10A
TLR2 toll-like receptor 2
TMC6 transmembrane channel-like 6
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UBE3B ubiquitin protein ligase E3B
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
UTS2 urotensin 2
VANGL2 VANGL planar cell polarity protein 2
WWOX WW domain containing oxidoreductase
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble