pulmonary embolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. (Human Disease Ontology, DOID_9477)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002204
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Genes

44 genes associated with the pulmonary embolism 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
C4A complement component 4A (Rodgers blood group)
CBS cystathionine-beta-synthase
COX1
COX2
COX3
CTLA4 cytotoxic T-lymphocyte-associated protein 4
ENG endoglin
F2 coagulation factor II (thrombin)
GDF2 growth differentiation factor 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
MEFV Mediterranean fever
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NOD2 nucleotide-binding oligomerization domain containing 2
PLP1 proteolipid protein 1
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SMAD4 SMAD family member 4
STAT4 signal transducer and activator of transcription 4
TLR4 toll-like receptor 4
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1