Hypercholesterolemia, Familial Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0020445
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Genes

192 genes associated with the disease Hypercholesterolemia, Familial 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
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACE angiotensin I converting enzyme
ACSS2 acyl-CoA synthetase short-chain family member 2
ADIPOQ adiponectin, C1Q and collagen domain containing
ADPRH ADP-ribosylarginine hydrolase
ADRB3 adrenoceptor beta 3
AGO2 argonaute RISC catalytic component 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AICDA activation-induced cytidine deaminase
ALOX5 arachidonate 5-lipoxygenase
ALOX5AP arachidonate 5-lipoxygenase-activating protein
ANGPTL3 angiopoietin-like 3
ANXA5 annexin A5
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOA4 apolipoprotein A-IV
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOC3 apolipoprotein C-III
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
APOL1 apolipoprotein L, 1
C4BPA complement component 4 binding protein, alpha
C4BPB complement component 4 binding protein, beta
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CARM1 coactivator-associated arginine methyltransferase 1
CCR4 chemokine (C-C motif) receptor 4
CD163 CD163 molecule
CD28 CD28 molecule
CDC37 cell division cycle 37
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CETP cholesteryl ester transfer protein, plasma
CFH complement factor H
CH25H cholesterol 25-hydroxylase
CHDH choline dehydrogenase
COG2 component of oligomeric golgi complex 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
COX7B cytochrome c oxidase subunit VIIb
CRABP2 cellular retinoic acid binding protein 2
CRP C-reactive protein, pentraxin-related
CUX1 cut-like homeobox 1
CXCL3 chemokine (C-X-C motif) ligand 3
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
EDN1 endothelin 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHX2 epoxide hydrolase 2, cytoplasmic
ESR1 estrogen receptor 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
F3 coagulation factor III (thromboplastin, tissue factor)
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FGB fibrinogen beta chain
FGF23 fibroblast growth factor 23
FTH1 ferritin, heavy polypeptide 1
GCLC glutamate-cysteine ligase, catalytic subunit
GH1 growth hormone 1
GHR growth hormone receptor
GK glycerol kinase
GLB1 galactosidase, beta 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX4 glutathione peroxidase 4
GSS glutathione synthetase
HCLS1 hematopoietic cell-specific Lyn substrate 1
HMGA2 high mobility group AT-hook 2
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HPD 4-hydroxyphenylpyruvate dioxygenase
HRASLS HRAS-like suppressor
HSPG2 heparan sulfate proteoglycan 2
ICAM1 intercellular adhesion molecule 1
ICAM3 intercellular adhesion molecule 3
IL10 interleukin 10
IL18 interleukin 18
IL1B interleukin 1, beta
IL2RB interleukin 2 receptor, beta
IL4R interleukin 4 receptor
IL6 interleukin 6
INSIG2 insulin induced gene 2
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KANK2 KN motif and ankyrin repeat domains 2
KDR kinase insert domain receptor
KHSRP KH-type splicing regulatory protein
KIDINS220 kinase D-interacting substrate, 220kDa
KMT2A lysine (K)-specific methyltransferase 2A
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPC lipase, hepatic
LIPG lipase, endothelial
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRP5 low density lipoprotein receptor-related protein 5
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MVP major vault protein
MYBPC3 myosin binding protein C, cardiac
MYLIP myosin regulatory light chain interacting protein
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OCA2 oculocutaneous albinism II
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE4A phosphodiesterase 4A, cAMP-specific
PDE5A phosphodiesterase 5A, cGMP-specific
PEA15 phosphoprotein enriched in astrocytes 15
PHACTR1 phosphatase and actin regulator 1
PLA2G15 phospholipase A2, group XV
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PNPLA5 patatin-like phospholipase domain containing 5
PON1 paraoxonase 1
PON2 paraoxonase 2
POR P450 (cytochrome) oxidoreductase
PRKCSH protein kinase C substrate 80K-H
PSIP1 PC4 and SFRS1 interacting protein 1
PTPRC protein tyrosine phosphatase, receptor type, C
RAVER1 ribonucleoprotein, PTB-binding 1
REN renin
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RUNX1 runt-related transcription factor 1
S100A12 S100 calcium binding protein A12
SACS sacsin molecular chaperone
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SDC2 syndecan 2
SELE selectin E
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIGLEC7 sialic acid binding Ig-like lectin 7
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SP1 Sp1 transcription factor
SREBF2 sterol regulatory element binding transcription factor 2
STAP1 signal transducing adaptor family member 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STMN1 stathmin 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCF3 transcription factor 3
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
TIMP1 TIMP metallopeptidase inhibitor 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNNT1 troponin T type 1 (skeletal, slow)
TRIB1 tribbles pseudokinase 1
TXN thioredoxin
TYK2 tyrosine kinase 2
TYRP1 tyrosinase-related protein 1
USF1 upstream transcription factor 1
USF2 upstream transcription factor 2, c-fos interacting
VLDLR very low density lipoprotein receptor
VSX1 visual system homeobox 1
WISP3 WNT1 inducible signaling pathway protein 3
ZNF317 zinc finger protein 317
ZNF561 zinc finger protein 561
ZNF562 zinc finger protein 562
ZNF563 zinc finger protein 563
ZNF823 zinc finger protein 823
ZNF846 zinc finger protein 846