Antiphospholipid Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). (Human Disease Ontology, DOID_2988)
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Genes

37 genes associated with the Antiphospholipid Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ANXA5 annexin A5
APOH apolipoprotein H (beta-2-glycoprotein I)
ATXN2 ataxin 2
BANK1 B-cell scaffold protein with ankyrin repeats 1
BLK BLK proto-oncogene, Src family tyrosine kinase
CPB2 carboxypeptidase B2 (plasma)
CYBA cytochrome b-245, alpha polypeptide
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FGB fibrinogen beta chain
GP1BA glycoprotein Ib (platelet), alpha polypeptide
HLA-DMA major histocompatibility complex, class II, DM alpha
HLA-DMB major histocompatibility complex, class II, DM beta
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IL17A interleukin 17A
IRF5 interferon regulatory factor 5
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
MBL2 mannose-binding lectin (protein C) 2, soluble
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NOS3 nitric oxide synthase 3 (endothelial cell)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SELPLG selectin P ligand
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SH2B3 SH2B adaptor protein 3
STAT4 signal transducer and activator of transcription 4
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TNF tumor necrosis factor
VKORC1 vitamin K epoxide reductase complex, subunit 1