hyperlipidemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally high level of lipids in blood.|Conditions with excess LIPIDS in the blood. (Experimental Factor Ontology, EFO_0003774)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003077
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Genes

42 genes associated with the hyperlipidemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
APOC2 apolipoprotein C-II
APOE apolipoprotein E
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CIDEC cell death-inducing DFFA-like effector c
CPT1A carnitine palmitoyltransferase 1A (liver)
DCAF17 DDB1 and CUL4 associated factor 17
DGAT1 diacylglycerol O-acyltransferase 1
FECH ferrochelatase
G6PC glucose-6-phosphatase, catalytic subunit
GK glycerol kinase
JAG1 jagged 1
LCAT lecithin-cholesterol acyltransferase
LMNA lamin A/C
LPL lipoprotein lipase
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PLIN1 perilipin 1
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRF1 perforin 1 (pore forming protein)
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTRF polymerase I and transcript release factor
RAI1 retinoic acid induced 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
TFG TRK-fused gene
TTPA tocopherol (alpha) transfer protein
UNC13D unc-13 homolog D (C. elegans)
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZMPSTE24 zinc metallopeptidase STE24