Skip to content
Use your HSA or FSA funds

Trait

Blood clot in artery of lung

Clinical name: Pulmonary embolism

An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.

HPO HP:0002204

Summary

Body system
Abnormality of the cardiovascular systemAbnormality of the respiratory system

40 genes linked to Blood clot in artery of lung

Changes in these genes cause rare conditions in which Blood clot in artery of lung is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
AGGF1angiogenic factor with G-patch and FHA domains 1Often (30–79%)In 1 condition
AKT1AKT serine/threonine kinase 1Often (30–79%)In 1 condition
CBScystathionine beta-synthaseOften (30–79%)In 1 condition
F8coagulation factor VIIIOften (30–79%)In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaOften (30–79%)In 1 condition
RHAGRh associated glycoproteinOften (30–79%)In 1 condition
SERPINC1serpin family C member 1Often (30–79%)In 2 conditions
THBDthrombomodulinOften (30–79%)In 1 condition
ACVRL1activin A receptor like type 1Sometimes (5–29%)In 1 condition
C4Acomplement C4A (Chido/Rodgers blood group)Sometimes (5–29%)In 1 condition
CCR1C-C motif chemokine receptor 1Sometimes (5–29%)In 1 condition
ENGendoglinSometimes (5–29%)In 1 condition
ERAP1endoplasmic reticulum aminopeptidase 1Sometimes (5–29%)In 1 condition
FASFas cell surface death receptorSometimes (5–29%)In 1 condition
GDF2growth differentiation factor 2Sometimes (5–29%)In 1 condition
GNAQG protein subunit alpha qSometimes (5–29%)In 2 conditions
HLA-Bmajor histocompatibility complex, class I, BSometimes (5–29%)In 1 condition
IFNGR1interferon gamma receptor 1Sometimes (5–29%)In 1 condition
IL10interleukin 10Sometimes (5–29%)In 1 condition
IL12Ainterleukin 12ASometimes (5–29%)In 1 condition
IL12A-AS1IL12A antisense RNA 1Sometimes (5–29%)In 1 condition
IL23Rinterleukin 23 receptorSometimes (5–29%)In 1 condition
JAK2Janus kinase 2Sometimes (5–29%)In 1 condition
KCNJ5potassium inwardly rectifying channel subfamily J member 5Sometimes (5–29%)In 1 condition
KLRC4killer cell lectin like receptor C4Sometimes (5–29%)In 1 condition
MEFVMEFV innate immunity regulator, pyrinSometimes (5–29%)In 1 condition
PIGAphosphatidylinositol glycan anchor biosynthesis class ASometimes (5–29%)In 1 condition
PLP1proteolipid protein 1Sometimes (5–29%)In 1 condition
PROCprotein C, inactivator of coagulation factors Va and VIIIaSometimes (5–29%)In 3 conditions
PROS1protein SSometimes (5–29%)In 3 conditions
SMAD4SMAD family member 4Sometimes (5–29%)In 1 condition
STAT4signal transducer and activator of transcription 4Sometimes (5–29%)In 1 condition
TLR4toll like receptor 4Sometimes (5–29%)In 1 condition
UBAC2UBA domain containing 2Sometimes (5–29%)In 1 condition
MMACHCmetabolism of cobalamin associated CRarely (1–4%)In 1 condition
CD55CD55 molecule (Cromer blood group)Not recordedIn 1 condition
F13A1coagulation factor XIII A chainNot recordedIn 1 condition
F2coagulation factor II, thrombinNot recordedIn 1 condition
HABP2hyaluronan binding protein 2Not recordedIn 1 condition
MTHFRmethylenetetrahydrofolate reductaseNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of pulmonary circulation

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test