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Atlas / Disease / Pulmonary embolism

Pulmonary embolism

disease
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Also known as embolism, pulmonarypulmonary embolism (disease)pulmonary embolus

Summary

Pulmonary embolism (MONDO:0005279) is a disease with 16 cohort genes (97 GWAS associations across 35 studies) and 624 clinical trials. The dominant Reactome pathway is Regulation of clotting cascade (4 cohort genes). Top therapeutic interventions include fondaparinux, warfarin, and apixaban.

At a glance

  • Cohort genes: 16
  • GWAS associations: 97
  • ClinVar variants: 1
  • Clinical trials: 624

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namepulmonary embolism
Mondo IDMONDO:0005279
EFOEFO:0003827
MeSHD011655
DOIDDOID:9477
ICD-10-CMI26
ICD-111014964218
NCITC50713
SNOMED CT59282003
UMLSC0034065
MedGen11027
Anatomy (UBERON)UBERON:0002012
Is cancer (heuristic)no

Also known as: embolism, pulmonary · pulmonary embolism · pulmonary embolism (disease) · pulmonary embolus

Data availability: 1 ClinVar variant · 97 GWAS associations (35 studies) · 1 HPO phenotype.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › pulmonary embolism

Related subtypes (29): vertebral artery insufficiency, splenic artery aneurysm, basilar artery insufficiency, arteriosclerosis disorder, subclavian artery aneurysm, pulmonary artery choriocarcinoma, pulmonary artery leiomyosarcoma, coronary artery disorder, hypertensive disorder, carotid artery disorder, peripheral arterial disease, hypotensive disorder, large artery stroke, aortic disorder, cervical artery dissection, anterior spinal artery syndrome, fibromuscular dysplasia, retinal arterial tortuosity, Sneddon syndrome, celiac trunk compression syndrome, pediatric arterial ischemic stroke, absence of the pulmonary artery, arterial occlusion, aberrant subclavian artery, anterior spinal artery stroke, arteritis, pulmonary artery disease, fibromuscular dysplasia, multifocal, carotid web

Subtypes (1): puerperal pulmonary embolism

Genetics & variants

GWAS landscape

97 GWAS associations across 35 studies. Top hits map to 14 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs60254e-137F5T2.93
rs18946921e-105SLC19A2 - F5G0.77
rs1154787351e-85ABOA0.31
chr9:1332664564e-83C0.3
rs37560116e-67F11C0.23
chr4:1546041241e-65A0.25
rs44448783e-64F11-AS1C0.25
rs5295657e-63ABOC1.38
chr1:1695498116e-61T0.6
rs20668652e-59FGA - FGGG0.22
rs17999637e-58F2G0.69
chr4:1862793965e-52T0.2
chr4:1545864381e-49?0.23
rs94113771e-43ABOA0.35
chr10:694542393e-36T0.25
chr11:467395051e-35A0.61
rs787077136e-27TSPAN15T0.25
rs174906261e-26TSPAN15G0.24
chr9:1334054143e-24?0.24
rs81767491e-20ABOC0.29
chr19:106324501e-20T0.15
rs560104101e-19FGB - FGAC0.24
rs76540932e-19FGG - LRATT1.22
rs42534172e-19F11C0.21
rs97978541e-18SLC44A2C0.14
rs124450502e-18PLCG2C0.17
rs81100554e-17SLC44A2A0.14
rs23783355e-17EDEM2 - PROCRA0.12
rs17998838e-17FABP2T1.42
chr10:1192507441e-16G0.15

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90473548UK Biobank Whole-Genome Sequencing Consortium202512,452445,988Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667901UK Biobank Whole-Genome Sequencing Consortium202512,452445,988Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475946Verma A202410,863436,996Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST003390Hinds DA20166,135252,827Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
GCST90297574Auwerx C20245,843308,721Rare copy-number variants as modulators of common disease susceptibility.
GCST90297628Auwerx C20245,843308,721Rare copy-number variants as modulators of common disease susceptibility.
GCST90297681Auwerx C20245,843308,721Rare copy-number variants as modulators of common disease susceptibility.
GCST90297756Auwerx C20245,843308,721Rare copy-number variants as modulators of common disease susceptibility.
GCST90079984Backman JD20215,221381,985Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083970Backman JD20215,221381,985Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding2
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic47

MAF distribution

BucketVariants
common (>=0.05)21
low_freq (0.01-0.05)8
rare (<0.01)0
unknown21

Functional consequences

ConsequenceCount
unknown21
intron_variant16
intergenic_variant7
missense_variant2
non_coding_transcript_exon_variant2
3_prime_UTR_variant1
synonymous_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs60251169549811C>A,G,T0.025missense_variantF54e-137Tier 1: coding
rs18946921169498416G>A0.036non_coding_transcript_exon_variantSLC19A2 - F51e-105Tier 4: intronic/intergenic
rs1154787359133274295A>T0.158intron_variantABO1e-85Tier 4: intronic/intergenic
chr9:1332664564e-83Tier 4: intronic/intergenic
rs37560114186285095C>A,T0.364intron_variantF116e-67Tier 4: intronic/intergenic
chr4:1546041241e-65Tier 4: intronic/intergenic
rs44448784186292729C>A,G,T0.393intron_variantF11-AS13e-64Tier 4: intronic/intergenic
rs5295659133274084C>A,G,T0.341intron_variantABO7e-63Tier 4: intronic/intergenic
chr1:1695498116e-61Tier 4: intronic/intergenic
rs20668654154604124G>A,C,T0.25intergenic_variantFGA - FGG2e-59Tier 4: intronic/intergenic
rs17999631146739505G>A0.0123_prime_UTR_variantF27e-58Tier 2: splice/UTR
chr4:1862793965e-52Tier 4: intronic/intergenic
chr4:1545864381e-49Tier 4: intronic/intergenic
rs94113779133269992A>C,G0.293intron_variantABO1e-43Tier 4: intronic/intergenic
chr10:694542393e-36Tier 4: intronic/intergenic
chr11:467395051e-35Tier 4: intronic/intergenic
rs787077131069485520T>A,C0.121intron_variantTSPAN156e-27Tier 4: intronic/intergenic
rs174906261069458890G>A,C0.099intron_variantTSPAN151e-26Tier 4: intronic/intergenic
chr9:1334054143e-24Tier 4: intronic/intergenic
rs81767499133255801C>A,G,T0.163synonymous_variantABO1e-20Tier 4: intronic/intergenic
chr19:106324501e-20Tier 4: intronic/intergenic
rs560104104154581717T>A,C,G0.255intergenic_variantFGB - FGA1e-19Tier 4: intronic/intergenic
rs76540934154623920A>T0.232intergenic_variantFGG - LRAT2e-19Tier 4: intronic/intergenic
rs42534174186277851T>C,G0.405intron_variantF112e-19Tier 4: intronic/intergenic
rs97978541910632320C>A,G,T0.202intron_variantSLC44A21e-18Tier 4: intronic/intergenic
rs124450501681837364C>G,T0.135intron_variantPLCG22e-18Tier 4: intronic/intergenic
rs81100551910628467A>C,T0.224intron_variantSLC44A24e-17Tier 4: intronic/intergenic
rs23783352035169027A>C,T0.321intergenic_variantEDEM2 - PROCR5e-17Tier 4: intronic/intergenic
rs17998834119320747T>A,C,G0.31missense_variantFABP28e-17Tier 1: coding
chr10:1192507441e-16Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
627396NM_000930.5(PLAT):c.826C>T (p.Pro276Ser)PLATUncertain significancecriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 19 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
F2Orphanet:325Congenital factor II deficiency
F2Orphanet:329217Cerebral sinovenous thrombosis
F5Orphanet:131Budd-Chiari syndrome
F5Orphanet:326Congenital factor V deficiency
F5Orphanet:329217Cerebral sinovenous thrombosis
F5Orphanet:391320East Texas bleeding disorder
F5Orphanet:599579Factor V Amsterdam bleeding disorder
F5Orphanet:600194Factor V Atlanta bleeding disorder
F8Orphanet:169802Severe hemophilia A
F8Orphanet:169805Moderate hemophilia A
F8Orphanet:169808Mild hemophilia A
F8Orphanet:177926Bleeding disorder in hemophilia A carriers
FGGOrphanet:101041Familial hypofibrinogenemia
FGGOrphanet:248408Familial hypodysfibrinogenemia
FGGOrphanet:98880Familial afibrinogenemia
FGGOrphanet:98881Familial dysfibrinogenemia
KNG1Orphanet:483Congenital high-molecular-weight kininogen deficiency
KNG1Orphanet:599418Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
PLATOrphanet:480528Lethal hydranencephaly-diaphragmatic hernia syndrome

Cohort genes → proteins

16 cohort genes, 16 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only15
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
ZNF160HGNC:12948ENSG00000170949Q9HCG1Zinc finger protein 160gwas
SLC44A2HGNC:17292ENSG00000129353Q8IWA5Choline transporter-like protein 2gwas
KCNG3HGNC:18306ENSG00000171126Q8TAE7Voltage-gated potassium channel regulatory subunit KCNG3gwas
ADTRPHGNC:21214ENSG00000111863Q96IZ2Androgen-dependent TFPI-regulating proteingwas
COX7A2LHGNC:2289ENSG00000115944O14548Cytochrome c oxidase subunit 7A2-like, mitochondrialgwas
TSPAN15HGNC:23298ENSG00000099282O95858Tetraspanin-15gwas
EPHA3HGNC:3387ENSG00000044524P29320Ephrin type-A receptor 3gwas
TMEM170BHGNC:34244ENSG00000205269Q5T4T1Transmembrane protein 170Bgwas
F2HGNC:3535ENSG00000180210P00734Prothrombingwas
F5HGNC:3542ENSG00000198734P12259Coagulation factor Vgwas
F8HGNC:3546ENSG00000185010P00451Coagulation factor VIIIgwas
FGGHGNC:3694ENSG00000171557P02679Fibrinogen gamma chaingwas
KNG1HGNC:6383ENSG00000113889P01042Kininogen-1gwas
ABOHGNC:79ENSG00000175164P16442Histo-blood group ABO system transferasegwas
PLATHGNC:9051ENSG00000104368P00750Tissue-type plasminogen activatorclinvar
PROCRHGNC:9452ENSG00000101000Q9UNN8Endothelial protein C receptorgwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
ZNF160Zinc finger protein 160May be involved in transcriptional regulation.
SLC44A2Choline transporter-like protein 2Choline/H+ antiporter, mainly in mitochondria.
KCNG3Voltage-gated potassium channel regulatory subunit KCNG3Regulatory subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1, modulates the kinetics parameters of the heterotetrameric channel namely the inactivation and deactivation rate.
ADTRPAndrogen-dependent TFPI-regulating proteinHydrolyzes bioactive fatty-acid esters of hydroxy-fatty acids (FAHFAs), but not other major classes of lipids.
COX7A2LCytochrome c oxidase subunit 7A2-like, mitochondrialAssembly factor that mediates the formation of some mitochondrial respiratory supercomplexes (respirasomes), thereby promoting oxidative phosphorylation and energy metabolism.
TSPAN15Tetraspanin-15Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10.
EPHA3Ephrin type-A receptor 3Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells.
TMEM170BTransmembrane protein 170BNegatively regulates the canonical Wnt signaling in breast cancer cells.
F2ProthrombinThrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C.
F5Coagulation factor VCentral regulator of hemostasis.
F8Coagulation factor VIIIFactor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
FGGFibrinogen gamma chainTogether with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix.
KNG1Kininogen-1Kininogens are inhibitors of thiol proteases.
ABOHisto-blood group ABO system transferaseThis protein is the basis of the ABO blood group system.
PLATTissue-type plasminogen activatorConverts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen.
PROCREndothelial protein C receptorBinds activated protein C.

Protein-family classification

Druggable: 5 · Difficult: 1 · Unknown: 10 · Druggable fraction: 0.31

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Ion channel17.0×0.403
Protease24.6×0.403
Kinase11.7×0.667
Other/Unknown101.1×0.667
Enzyme (other)10.8×0.873
Transcription factor10.5×0.873

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
ZNF160Transcription factornoKRAB, Znf_C2H2_type, KRAB_dom_sf
SLC44A2Other/UnknownnoCholine_transptr-like
KCNG3Ion channelyesBTB/POZ_dom, T1-type_BTB, K_chnl_volt-dep_Kv
ADTRPOther/UnknownnoADTRP_AIG1
COX7A2LOther/UnknownnoCytc_oxidase_su7a_met, Cyt_c_oxidase_su7a-rel_mt, Cyt_c_oxidase_su7a_sf
TSPAN15Other/UnknownnoTetraspanin_animals, Tetraspanin_EC2_sf, Tetraspanin/Peripherin
EPHA3Kinaseyes2.7.10.1Prot_kinase_dom, EPH_LBD, Ser-Thr/Tyr_kinase_cat_dom
TMEM170BOther/UnknownnoTMEM170A/B/YPR153W-like
F2Proteaseyes3.4.21.5Kringle, GLA_domain, Trypsin_dom
F5Other/UnknownnoFA58C, Cupredoxin, Galactose-bd-like_sf
F8Other/UnknownnoFA58C, Cupredoxin, Galactose-bd-like_sf
FGGOther/UnknownnoFibrinogen_a/b/g_C_dom, Fibrinogen_a/b/g_coil_dom, Fibrinogen_a/b/g_C_1
KNG1Other/UnknownnoCystatin_dom, Kininogen, Prot_inh_cystat_CS
ABOEnzyme (other)yes2.4.1.37Glyco_trans_6, Nucleotide-diphossugar_trans
PLATProteaseyes3.4.21.68Kringle, Fibronectin_type1, EGF
PROCROther/UnknownnoMHC_I-like_Ag-recog, MHC_I/II-like_Ag-recog, Endothetial_C_recpt

Expression context

Cohort genes with no expression data: 0.

15 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)16
unknown0

Top tissues across cohort

TissueCohort genes
endothelial cell4
liver4
right lobe of liver4
renal medulla2
tibial nerve2
buccal mucosa cell2
urethra2
tendon of biceps brachii2
pylorus1
right lung1
right testis1
adrenal tissue1
islet of Langerhans1
jejunal mucosa1
mucosa of transverse colon1
sperm1
right adrenal gland1
right adrenal gland cortex1
C1 segment of cervical spinal cord1
mucosa of stomach1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
ZNF160294ubiquitousmarkerrenal medulla, endothelial cell, pylorus
SLC44A2255ubiquitousmarkertibial nerve, right lung, right testis
KCNG380broadyesislet of Langerhans, adrenal tissue, endothelial cell
ADTRP228broadmarkersperm, mucosa of transverse colon, jejunal mucosa
COX7A2L301ubiquitousmarkerendothelial cell, right adrenal gland cortex, right adrenal gland
TSPAN15243ubiquitousmarkertibial nerve, C1 segment of cervical spinal cord, mucosa of stomach
EPHA3222broadmarkerganglionic eminence, buccal mucosa cell, urethra
TMEM170B228ubiquitousmarkerBrodmann (1909) area 23, monocyte, endothelial cell
F2117tissue_specificmarkerright lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis
F5206broadmarkerright lobe of liver, liver, choroid plexus epithelium
F8266broadmarkerleft ventricle myocardium, heart right ventricle, myocardium
FGG157broadmarkerright lobe of liver, liver, type B pancreatic cell
KNG1117tissue_specificmarkerrenal medulla, liver, right lobe of liver
ABO169broadmarkertendon of biceps brachii, buccal mucosa cell, right lobe of thyroid gland
PLAT273ubiquitousmarkerstromal cell of endometrium, pancreatic ductal cell, urethra
PROCR241ubiquitousmarkerpericardium, germinal epithelium of ovary, tendon of biceps brachii

Protein interactions among cohort

Intra-cohort edges: 8.

Hub genes (top 10 by interactor count)

SymbolInteractor count
KNG14,126
PLAT3,028
F22,709
EPHA32,455
FGG2,018
F81,900
F51,754
KCNG31,452
PROCR1,349
COX7A2L1,152

Intra-cohort edges

ABSources
F2F5biogrid_interaction, string_interaction
F2F8intact, string_interaction
F2FGGstring_interaction
FGGKNG1string_interaction
FGGSLC44A2string_interaction
FGGTSPAN15string_interaction
PROCRTSPAN15string_interaction
SLC44A2TSPAN15string_interaction

Structural data

PDB: 10 · AlphaFold-only: 6 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
F2P00734475
ABOP16442151
FGGP0267947
EPHA3P2932028
F8P0045125
KNG1P0104219
F5P1225918
PROCRQ9UNN813
PLATP0075011
TSPAN15O958583

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ADTRPQ96IZ290.99
TMEM170BQ5T4T188.58
SLC44A2Q8IWA583.62
KCNG3Q8TAE780.07
COX7A2LO1454879.89
ZNF160Q9HCG168.98

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 92. Enrichment computed across 16 evidence-associated genes (13 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Regulation of clotting cascade471.7×2e-05F2, F5, F8, PROCR
Amplification and propagation of coagulation cascade3146.4×4e-05F2, F5, F8
Initiation of coagulation cascade3109.8×7e-05F2, F5, F8
Defective F8 cleavage by thrombin2585.6×8e-05F2, F8
Platelet degranulation427.0×2e-04F5, F8, FGG, KNG1
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)426.6×2e-04F2, F5, FGG, KNG1
R-HSA-1408372219.6×4e-04F2, KNG1
R-HSA-1408772146.4×9e-04F2, KNG1
Fibrin formation2135.2×9e-04F2, FGG
Post-translational protein phosphorylation323.1×0.002F5, FGG, KNG1
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation265.1×0.003F2, F8
Cargo concentration in the ER251.7×0.005F5, F8
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins1878.5×0.006F2
Defective factor VIII causes hemophilia A1878.5×0.006F2
Defective F8 accelerates dissociation of the A2 domain1878.5×0.006F8
Defective F8 binding to the cell membrane1878.5×0.006F8
Defective F8 secretion1878.5×0.006F8
Defective F8 binding to von Willebrand factor1439.2×0.012F8
R-HSA-96514961292.8×0.012F2
Defective factor IX causes thrombophilia1292.8×0.012F8
Defective cofactor function of FVIIIa variant1292.8×0.012F8
Defective F9 variant does not activate FX1292.8×0.012F8
Defective F8 sulfation at Y16991292.8×0.012F8
Defective cleavage of FV variant at a.a.5341292.8×0.012F5
Defective cleavage of FV variant at R3341292.8×0.012F5
COPII-mediated vesicle transport225.1×0.012F5, F8
R-HSA-1408751219.6×0.014F2
Defective factor XII causes hereditary angioedema1219.6×0.014F2
Diseases of hemostasis1219.6×0.014F2
Aggregated β-amyloid interacts with fibrinogen1219.6×0.014FGG

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 16 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
blood coagulation665.2×3e-08F2, F5, F8, KNG1, PLAT, PROCR
negative regulation of blood coagulation3225.7×1e-05ADTRP, F2, KNG1
fibrinolysis3158.0×3e-05F2, FGG, PLAT
negative regulation of proteolysis3126.4×5e-05F2, KNG1, PLAT
blood coagulation, fibrin clot formation2210.7×9e-04F2, FGG
negative regulation of fibrinolysis2175.5×0.001F2, PLAT
plasminogen activation2162.0×0.001FGG, PLAT
acute-phase response252.7×0.009F2, F8
ethanolamine transport1526.6×0.022SLC44A2
fasciculation of motor neuron axon1526.6×0.022EPHA3
response to vitamin K1351.1×0.023F5
regulation of membrane protein ectodomain proteolysis1351.1×0.023TSPAN15
fasciculation of sensory neuron axon1351.1×0.023EPHA3
trans-synaptic signaling by BDNF, modulating synaptic transmission1351.1×0.023PLAT
negative regulation of extracellular matrix constituent secretion1263.3×0.027ADTRP
negative regulation of coagulation1263.3×0.027PROCR
neutrophil-mediated killing of gram-negative bacterium1210.7×0.030F2
negative regulation of lymphocyte migration1210.7×0.030ADTRP
long-chain fatty acid catabolic process1175.5×0.031ADTRP
prevention of polyspermy1175.5×0.031PLAT
negative regulation of leukocyte cell-cell adhesion1175.5×0.031ADTRP
negative regulation of plasminogen activation1150.5×0.031PLAT
thrombin-activated receptor signaling pathway1150.5×0.031F2
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway1150.5×0.031F2
blood coagulation, intrinsic pathway1131.7×0.031F8
obsolete cytolysis by host of symbiont cells1131.7×0.031F2
negative regulation of platelet activation1117.0×0.031F2
smooth muscle cell migration1117.0×0.031PLAT
regulation of blood coagulation1117.0×0.031F2
regulation of potassium ion transport1117.0×0.031KCNG3

Therapeutics

Drugs indicated for this disease

5 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
AlteplaseApproved (phase 4)
ApixabanApproved (phase 4)
Enoxaparin SodiumApproved (phase 4)
Heparin SodiumApproved (phase 4)
RivaroxabanApproved (phase 4)
AcenocoumarolPhase 3 (in late-stage trials)
FurosemidePhase 3 (in late-stage trials)
HeparinPhase 3 (in late-stage trials)
IdraparinuxPhase 3 (in late-stage trials)
MacitentanPhase 3 (in late-stage trials)
OxygenPhase 3 (in late-stage trials)
TenecteplasePhase 3 (in late-stage trials)
WarfarinPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Diclofenac, Drotrecogin Alfa (Activated), Nitric Oxide, Urokinase.

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 4 · Undrugged: 12

Druggability breadth: 7 of 16 evidence-associated genes (44%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
EPHA3FEDRATINIB
F2INDIGOTINDISULFONATE
F5EDOXABAN
PLATARGATROBAN

Top cohort targets by molecule count

SymbolMoleculesMax phase
F2484
EPHA3294
PLAT84
F524
ZNF16000
SLC44A200
KCNG300
ADTRP00
COX7A2L00
TSPAN1500

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
FEDRATINIB4EPHA3
SORAFENIB4EPHA3
DASATINIB ANHYDROUS4EPHA3
RUXOLITINIB4EPHA3
VANDETANIB4EPHA3
NILOTINIB4EPHA3
BOSUTINIB4EPHA3
NINTEDANIB4EPHA3
SUNITINIB4EPHA3
DASATINIB4EPHA3
ERLOTINIB4EPHA3
QUIZARTINIB4EPHA3
CRIZOTINIB4EPHA3
GEFITINIB4EPHA3
INDIGOTINDISULFONATE4F2
ARGATROBAN4F2, PLAT
BENZOYL PEROXIDE4F2
SUCCIMER4F2
EDOXABAN4F2, F5
METHYLPREDNISOLONE ACETATE4F2
LIOTHYRONINE4F2
CAPTOPRIL4F2
RIVAROXABAN4F2
TELOTRISTAT4F2
LUSUTROMBOPAG4F2
APIXABAN4F2
HEXAMIDINE4F2
MELAGATRAN4F2, PLAT
CIANIDANOL4F2
BORTEZOMIB4F2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
F21,269Binding:1216, Functional:38, ADMET:13, Toxicity:2
EPHA3250Binding:250
PLAT249Binding:243, Functional:5, ADMET:1
KCNG321Binding:20, Toxicity:1
F510Binding:10
F88Binding:8
ABO6Binding:6

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
EPHA32.7.10.1receptor protein-tyrosine kinase
F23.4.21.5thrombin
ABO2.4.1.37, 2.4.1.40, 2.4.1.88fucosylgalactoside 3-alpha-galactosyltransferase, glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase, globoside alpha-N-acetylgalactosaminyltransferase
PLAT3.4.21.68t-Plasminogen activator

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
EPHA3250
F21,269
PLAT249

Pharmacogenomics

Cohort genes with a PharmGKB record: 16; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

27 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
FEDRATINIB4EPHA3
SORAFENIB4EPHA3
DASATINIB ANHYDROUS4EPHA3
RUXOLITINIB4EPHA3
VANDETANIB4EPHA3
NILOTINIB4EPHA3
BOSUTINIB4EPHA3
NINTEDANIB4EPHA3
SUNITINIB4EPHA3
DASATINIB4EPHA3
ERLOTINIB4EPHA3
QUIZARTINIB4EPHA3
CRIZOTINIB4EPHA3
GEFITINIB4EPHA3
INDIGOTINDISULFONATE4F2
ARGATROBAN4F2, PLAT
BENZOYL PEROXIDE4F2
SUCCIMER4F2
METHYLPREDNISOLONE ACETATE4F2
LIOTHYRONINE4F2
CAPTOPRIL4F2
TELOTRISTAT4F2
LUSUTROMBOPAG4F2
HEXAMIDINE4F2
MELAGATRAN4F2, PLAT
CIANIDANOL4F2
BORTEZOMIB4F2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)4EPHA3, F2, F5, PLAT
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1ABO
DDruggable family + AlphaFold only, no drug1KCNG3
EDifficult family or no structure, no drug10ZNF160, SLC44A2, ADTRP, COX7A2L, TSPAN15, TMEM170B, F8, FGG, KNG1, PROCR

Undrugged target profiles

12 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
FGG0F2
ZNF1600—
SLC44A20—
KCNG321—
ADTRP0—
COX7A2L0—
TSPAN150—
TMEM170B0—
F88—
KNG10—
ABO6—
PROCR0—

Clinical trials & evidence

Clinical trials

Clinical trials: 624.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified469
PHASE457
PHASE347
PHASE220
PHASE111
EARLY_PHASE19
PHASE2/PHASE37
PHASE1/PHASE24

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03129555PHASE4ACTIVE_NOT_RECRUITINGThe Danish Non-vitamin K Antagonist Oral Anticoagulation Study in Patients With Venous Thromboembolism (DANNOAC-VTE)
NCT03581877PHASE4ACTIVE_NOT_RECRUITINGPeripheral Systemic Thrombolysis Versus Catheter Directed Thrombolysis for Submassive PE
NCT04263038PHASE4RECRUITINGClinical Surveillance vs. Anticoagulation for Low-risk Patients With Isolated Subsegmental Pulmonary Embolism
NCT04731558PHASE4RECRUITINGPre- Vs Postoperative Thromboprophylaxis for Liver Resection
NCT04790370PHASE4ACTIVE_NOT_RECRUITINGUltrasound-facilitated, Catheter-directed, Thrombolysis in Intermediate-high Risk Pulmonary Embolism
NCT05493163PHASE4RECRUITINGCatheter-directed Thrombolysis in Intermediate-high Risk Acute Pulmonary Embolism
NCT06581965PHASE4RECRUITINGinDividual, Targeted thrombosIS Prophylaxis Versus the Standard ‘One Size Fits All’ Approach in Patients Undergoing Total hIp or Total kNee replaCemenT
NCT07250763PHASE4ACTIVE_NOT_RECRUITINGTherapeutic Initial Heparin Dosing for Patients With Clots or Certain Heart Conditions Admitted to the Hospital
NCT00187408PHASE4COMPLETEDThe D-KAF (Dalteparin in Knee-to-Ankle Fracture) Trial
NCT00196118PHASE4COMPLETEDStudy of IVC Filter Retrieval With the Günther Tulip Vena Cava Filter
NCT00214929PHASE4UNKNOWNHome Treatment of Pulmonary Embolism
NCT00233740PHASE4COMPLETEDProtection From Pulmonary Embolism With the Permanent OptEase™ Filter (PROOF)
NCT00264277PHASE4COMPLETEDD-dimer to Establish Duration of Anticoagulation After Venous Thromboembolism
NCT00351754PHASE4COMPLETEDDetection of Pulmonary Embolism With CECT
NCT00365950PHASE4COMPLETED3 Months’ Versus 6 Months’ Anticoagulation in Patients With DVT and/or PE
NCT00377091PHASE4WITHDRAWNIs Using Fondaparinux (Blood Thinner) to Treat Lung Clot Cheaper Than Traditional Therapy
NCT00381511PHASE4COMPLETEDDeferment of Imaging for Pulmonary Embolism
NCT00442234PHASE4COMPLETEDPost-marketing Study of Monteplase (Cleactor) in Patients With Acute Pulmonary Embolism
NCT00457158PHASE4COMPLETEDPREPIC 2 : Prevention of Recurrent Pulmonary Embolism by Vena Cava Interruption
NCT00511173PHASE4COMPLETEDComparison of Warfarin Dosing Using Decision Model Versus Pharmacogenetic Algorithm
NCT00586287PHASE4COMPLETEDStudy to Find Out the Appropriate Initial Dose of the Anticoagulant Drug Phenprocoumon
NCT00603317PHASE4COMPLETEDPharmacodynamic Drug Interaction Between Warfarin and Amoxicillin-clavulanic Acid
NCT00711308PHASE4COMPLETEDTinzaparin in the Treatment of the Acute Pulmonary Embolism
NCT00781378PHASE4COMPLETEDLow Dosage of rt-PA in the Treatment of Pulmonary Thromboembolism in China
NCT00796692PHASE4COMPLETEDNadroparin for the Initial Treatment of Pulmonary Thromboembolism
NCT00799968PHASE4COMPLETED12-h and 2-h Urokinase Regimes of Pulmonary Thromboembolism in China
NCT00968929PHASE4COMPLETEDRecombinant Streptokinase Versus Urokinase in Pulmonary Embolism in China (RESUPEC)
NCT01014156PHASE4COMPLETEDEpoprostenol in Pulmonary Embolism
NCT01104337PHASE4COMPLETEDDrug Interaction Between Paracetamol and Warfarin
NCT01134068PHASE4COMPLETEDAge-adjusted D-dimer Cut-off Levels to Rule Out Pulmonary Embolism
NCT01252420PHASE4UNKNOWNTwo Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis
NCT01531829PHASE4UNKNOWNLow Dose Rt-PA for Acute Normotensive Pulmonary Embolism With RVD
NCT01610141PHASE4UNKNOWNApplying Pharmacogenetics to Warfarin Dosing in Chinese Patients
NCT01638468PHASE4TERMINATEDMulticenter, Nonrandomized, Prospective Study of Pulmonary Embolism Removal With the AngioJet 6F Ultra System
NCT01729559PHASE4COMPLETEDVenous Thromboembolic Prophylaxis After Trauma: Three Times a Day Unfractionated Heparin Versus Twice a Day Enoxaparin
NCT01828697PHASE4COMPLETEDComparison of Low and Intermediate Dose Low-molecular-weight Heparin to Prevent Recurrent Venous Thromboembolism in Pregnancy
NCT02029456PHASE4UNKNOWNLow Dose Prolonged Infusion of Tissue Type Plasminogen Activator Therapy in Massive Pulmonary Embolism
NCT02132689PHASE4COMPLETEDComparison of Thrombgolytic and Anticoagulation Therapy in Submassive Pulmonary Embolism
NCT02161965PHASE4COMPLETEDVascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation
NCT02234375PHASE4WITHDRAWNUse of Gadolinium in CT Pulmonary Angiography

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
FONDAPARINUX420
WARFARIN419
APIXABAN412
ENOXAPARIN SODIUM411
ALTEPLASE47
RIVAROXABAN47
DALTEPARIN SODIUM46
EDOXABAN45
DABIGATRAN ETEXILATE43
STREPTOKINASE43
ACENOCOUMAROL42
HEPARIN42
NADROPARIN CALCIUM42
NITRIC OXIDE42
OXYGEN42
TENECTEPLASE42
UROKINASE42
ACETAMINOPHEN41
ACETYLCYSTEINE41
DICLOFENAC41
EPOPROSTENOL41
FERUMOXYTOL41
FLUDEOXYGLUCOSE41
FLUINDIONE41
FUROSEMIDE41
GADOFOSVESET41
IOPAMIDOL41
MACITENTAN41
PHENPROCOUMON41
TRANEXAMIC ACID41

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmicd11intactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot