Anoxia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence or almost complete absence of oxygen from inspired gases, in blood or tissues (Mammalian Phenotype Ontology, MP_0002316)
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Genes

91 genes associated with the Anoxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACAA1 acetyl-CoA acyltransferase 1
ACE angiotensin I converting enzyme
ACTN3 actinin, alpha 3 (gene/pseudogene)
ACTR5 ARP5 actin-related protein 5 homolog (yeast)
ADIPOR1 adiponectin receptor 1
ADRA2A adrenoceptor alpha 2A
ADRB1 adrenoceptor beta 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AMPD1 adenosine monophosphate deaminase 1
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPTL4 angiopoietin-like 4
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
AR androgen receptor
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
BDKRB2 bradykinin receptor B2
BDNF brain-derived neurotrophic factor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
CAV1 caveolin 1, caveolae protein, 22kDa
CKM creatine kinase, muscle
CP ceruloplasmin (ferroxidase)
CUL2 cullin 2
CYBA cytochrome b-245, alpha polypeptide
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DISC1 disrupted in schizophrenia 1
DTNBP1 dystrobrevin binding protein 1
EDN1 endothelin 1
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EPAS1 endothelial PAS domain protein 1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPO erythropoietin
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPX3 glutathione peroxidase 3
GRM3 glutamate receptor, metabotropic 3
GSTP1 glutathione S-transferase pi 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
IGFBP3 insulin-like growth factor binding protein 3
IL18BP interleukin 18 binding protein
INHBA inhibin, beta A
IRS1 insulin receptor substrate 1
KDR kinase insert domain receptor
KIF7 kinesin family member 7
LEP leptin
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MPO myeloperoxidase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NOS3 nitric oxide synthase 3 (endothelial cell)
NRG1 neuregulin 1
NRP1 neuropilin 1
OPRM1 opioid receptor, mu 1
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
PDGFB platelet-derived growth factor beta polypeptide
PGF placental growth factor
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SFTPB surfactant protein B
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SPP1 secreted phosphoprotein 1
SSTR2 somatostatin receptor 2
STC1 stanniocalcin 1
STC2 stanniocalcin 2
TF transferrin
TGFB1 transforming growth factor, beta 1
TICRR TOPBP1-interacting checkpoint and replication regulator
TP53 tumor protein p53
TRNL
TTN titin
TYMP thymidine phosphorylase
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A