Familial Hypercholesterolemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (Human Disease Ontology, DOID_13810)
External Link https://www.disgenet.org/browser/0/1/0/C1275461
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Genes

54 genes associated with the disease Familial Hypercholesterolemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ACE angiotensin I converting enzyme
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
AGTR1 angiotensin II receptor, type 1
AMELX amelogenin, X-linked
ANGPTL3 angiopoietin-like 3
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC2 apolipoprotein C-II
APOE apolipoprotein E
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CCL5 chemokine (C-C motif) ligand 5
CD14 CD14 molecule
CD36 CD36 molecule (thrombospondin receptor)
CETP cholesteryl ester transfer protein, plasma
CRP C-reactive protein, pentraxin-related
CXCL8 chemokine (C-X-C motif) ligand 8
ESR1 estrogen receptor 1
FGF23 fibroblast growth factor 23
FLNB filamin B, beta
GATA4 GATA binding protein 4
GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
HHEX hematopoietically expressed homeobox
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HRASLS HRAS-like suppressor
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LMF1 lipase maturation factor 1
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
MPI mannose phosphate isomerase
MRAS muscle RAS oncogene homolog
MT1B metallothionein 1B
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTTP microsomal triglyceride transfer protein
MYLIP myosin regulatory light chain interacting protein
NR4A3 nuclear receptor subfamily 4, group A, member 3
PCSK9 proprotein convertase subtilisin/kexin type 9
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLG plasminogen
POMC proopiomelanocortin
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMIM10L2A small integral membrane protein 10 like 2A
SMIM10L2B small integral membrane protein 10 like 2B
STAP1 signal transducing adaptor family member 1
VLDLR very low density lipoprotein receptor