abnormal thrombosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). (Human Phenotype Ontology, HP_0001977)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001977
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Genes

66 genes associated with the abnormal thrombosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AGGF1 angiogenic factor with G patch and FHA domains 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARHGAP31 Rho GTPase activating protein 31
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C4A complement component 4A (Rodgers blood group)
CALR calreticulin
CBS cystathionine-beta-synthase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DOCK6 dedicator of cytokinesis 6
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPOR erythropoietin receptor
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F9 coagulation factor IX
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
GDF2 growth differentiation factor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HBB hemoglobin, beta
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HRG histidine-rich glycoprotein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
JAK2 Janus kinase 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF11 kinesin family member 11
MEFV Mediterranean fever
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH9 myosin, heavy chain 9, non-muscle
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH1 notch 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGM1 phosphoglucomutase 1
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PLAT plasminogen activator, tissue
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRSS1 protease, serine, 1 (trypsin 1)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SH2B3 SH2B adaptor protein 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD4 SMAD family member 4
SPINK1 serine peptidase inhibitor, Kazal type 1
STAT4 signal transducer and activator of transcription 4
TET2 tet methylcytosine dioxygenase 2
THBD thrombomodulin
THPO thrombopoietin
TLR4 toll-like receptor 4
TP53 tumor protein p53
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase