Hypocholesterolemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An decreased concentration of cholesterol in the blood. (Human Phenotype Ontology, HP_0003146)
External Link https://www.disgenet.org/browser/0/1/0/C0151718
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Genes

111 genes associated with the disease Hypocholesterolemia 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
ACP3 acid phosphatase 3
ACTB actin, beta
ADAM10 ADAM metallopeptidase domain 10
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANGPTL3 angiopoietin-like 3
ANTXR2 anthrax toxin receptor 2
ANXA6 annexin A6
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AQP2 aquaporin 2 (collecting duct)
AQP4 aquaporin 4
BACE1 beta-site APP-cleaving enzyme 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASP1 caspase 1, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD44 CD44 molecule (Indian blood group)
CDC42 cell division cycle 42
CFAP97 cilia and flagella associated protein 97
CNBP CCHC-type zinc finger, nucleic acid binding protein
CP ceruloplasmin (ferroxidase)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DHCR7 7-dehydrocholesterol reductase
DSC2 desmocollin 2
EFNB2 ephrin-B2
EGF epidermal growth factor
ERN1 endoplasmic reticulum to nucleus signaling 1
F3 coagulation factor III (thromboplastin, tissue factor)
FASN fatty acid synthase
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FLCN folliculin
GRAP2 GRB2-related adaptor protein 2
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
IL6 interleukin 6
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
KCNK3 potassium channel, two pore domain subfamily K, member 3
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MFAP1 microfibrillar-associated protein 1
MSMO1 methylsterol monooxygenase 1
MTTP microsomal triglyceride transfer protein
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MVD mevalonate (diphospho) decarboxylase
NGLY1 N-glycanase 1
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1L1 NPC1-like 1
OSBP oxysterol binding protein
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PCSK9 proprotein convertase subtilisin/kexin type 9
PEX12 peroxisomal biogenesis factor 12
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PMM2 phosphomannomutase 2
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRDM16 PR domain containing 16
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PTK2 protein tyrosine kinase 2
RGS2 regulator of G-protein signaling 2
RHO rhodopsin
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RXFP3 relaxin/insulin-like family peptide receptor 3
SACM1L SAC1 suppressor of actin mutations 1-like (yeast)
SAR1B secretion associated, Ras related GTPase 1B
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SOD1 superoxide dismutase 1, soluble
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
TAS2R14 taste receptor, type 2, member 14
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TM4SF5 transmembrane 4 L six family member 5
TNF tumor necrosis factor
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV6 transient receptor potential cation channel, subfamily V, member 6
UBE3B ubiquitin protein ligase E3B
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
VEGFA vascular endothelial growth factor A
XBP1 X-box binding protein 1
XPR1 xenotropic and polytropic retrovirus receptor 1