Activated Protein C Resistance Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. (Human Phenotype Ontology, HP_0012175)
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Genes

20 genes associated with the Activated Protein C Resistance phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
CBS cystathionine-beta-synthase
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
GRK6 G protein-coupled receptor kinase 6
HFE hemochromatosis
HRG histidine-rich glycoprotein
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
JAK2 Janus kinase 2
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KNG1 kininogen 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2