abnormal circulating hdl 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 small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion (Mammalian Phenotype Ontology, MP_0000184)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000184
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Genes

133 gene mutations causing the abnormal circulating hdl 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
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACOT11 acyl-CoA thioesterase 11
ACTB actin, beta
ADGRF5 adhesion G protein-coupled receptor F5
ADIPOR2 adiponectin receptor 2
ADORA2B adenosine A2b receptor
AHCYL1 adenosylhomocysteinase-like 1
AKAP9 A kinase (PRKA) anchor protein 9
ALMS1 Alstrom syndrome protein 1
ANGPTL3 angiopoietin-like 3
ANGPTL4 angiopoietin-like 4
AP2A2 adaptor-related protein complex 2, alpha 2 subunit
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
APOF apolipoprotein F
APOM apolipoprotein M
ARSK arylsulfatase family, member K
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
BAG3 BCL2-associated athanogene 3
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BHMT betaine--homocysteine S-methyltransferase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNG3 calcium channel, voltage-dependent, gamma subunit 3
CBX6 chromobox homolog 6
CD36 CD36 molecule (thrombospondin receptor)
CDH23 cadherin-related 23
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CLPS colipase, pancreatic
CPE carboxypeptidase E
CSPG4 chondroitin sulfate proteoglycan 4
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DBN1 drebrin 1
DFNB31 deafness, autosomal recessive 31
DIXDC1 DIX domain containing 1
DLG2 discs, large homolog 2 (Drosophila)
DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma
ELMOD1 ELMO/CED-12 domain containing 1
ESR1 estrogen receptor 1
FABP3 fatty acid binding protein 3, muscle and heart
FAM117B family with sequence similarity 117, member B
FFAR4 free fatty acid receptor 4
FGF10 fibroblast growth factor 10
FGL1 fibrinogen-like 1
FOXA1 forkhead box A1
FTO fat mass and obesity associated
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
GPR12 G protein-coupled receptor 12
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HPN hepsin
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LCAT lecithin-cholesterol acyltransferase
LCH Lentil agglutinin-binding
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPG lipase, endothelial
LPIN1 lipin 1
LPL lipoprotein lipase
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBTPS1 membrane-bound transcription factor peptidase, site 1
MIA2 melanoma inhibitory activity 2
MIER1 mesoderm induction early response 1, transcriptional regulator
MIR122 microRNA 122
MRAP2 melanocortin 2 receptor accessory protein 2
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
NPC1L1 NPC1-like 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRCAM neuronal cell adhesion molecule
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCA2 oculocutaneous albinism II
OED Oregon eye disease
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form)
PCSK9 proprotein convertase subtilisin/kexin type 9
PEMT phosphatidylethanolamine N-methyltransferase
PEX2 peroxisomal biogenesis factor 2
PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1
PLA2G12B phospholipase A2, group XIIB
PLTP phospholipid transfer protein
PLVAP plasmalemma vesicle associated protein
PNPLA2 patatin-like phospholipase domain containing 2
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKCI protein kinase C, iota
PRLHR prolactin releasing hormone receptor
RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3
REG3G regenerating islet-derived 3 gamma
RGS4 regulator of G-protein signaling 4
RORA RAR-related orphan receptor A
SAMD4A sterile alpha motif domain containing 4A
SCARB1 scavenger receptor class B, member 1
SCP2 sterol carrier protein 2
SERF1A small EDRK-rich factor 1A (telomeric)
SIK3 SIK family kinase 3
SIRT2 sirtuin 2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOAT1 sterol O-acyltransferase 1
SOAT2 sterol O-acyltransferase 2
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SSTR1 somatostatin receptor 1
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
USH1C Usher syndrome 1C (autosomal recessive, severe)
UTS2 urotensin 2
VANGL2 VANGL planar cell polarity protein 2
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble