Trait: pulmonary arterial hypertension

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001361
Description Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). [Orphanet: 182090]
Trait category
Cardiovascular disease
Synonyms 16 synonyms
  • Ayerza Arrilaga Syndrome
  • Ayerza Syndrome
  • Ayerza's Syndrome
  • Ayerza-Arrilaga Syndrome
  • Ayerzas Syndrome
  • Hypertension, Pulmonary
  • PAH
  • PHT - Pulmonary hypertension
  • Pulmonary hypertension, NOS
  • Syndrome, Ayerza
  • Syndrome, Ayerza-Arrilaga
  • pulmonary arterial hypertension
  • pulmonary hypertension
  • pulmonary hypertension (disorder)
Mapped term(s) 11 mapped terms
  • DOID:6432
  • GARD:0007501
  • MSH:D006976
  • MedDRA:10064911
  • NCIt:C3120
  • OMIM:615371
  • Orphanet:182090
  • SCTID:11399002
  • SNOMEDCT:70995007
  • UMLS:C2973725
  • UMLS:CN200519

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000713 T2D PGP000128 Sinnott-Armstrong N et al. Nat Genet (2021) T2D pulmonary arterial hypertension 183,830 - Check Terms/Licenses

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001605 PGS000713
PSS000754 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Type 2 diabetes AUROC: 0.688 Age, sex, PCs(1-10)
PPM001615 PGS000713
PSS000756 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Type 2 diabetes HR: 1.49 [1.47, 1.51] C-index: 0.669 Age as time scale, sex, batch, PCs(1-10)

Evaluated Samples

PGS Sample Set ID
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000754 87,413 individuals European UKB
PSS000756 ICD-10 E11.0 - E11.9
  • 17,519 cases
  • , 117,781 controls