Cor pulmonale
diseaseOn this page
Also known as disease, pulmonary heartdiseases, pulmonary heartheart disease, pulmonaryheart diseases, pulmonarypulmonary heart diseasepulmonary heart diseases
Summary
Cor pulmonale (MONDO:0004596) is a disease with 19 GWAS associations across 6 studies and 6 clinical trials. Top therapeutic interventions include perflutren. A subtype of congestive heart failure — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 19
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cor pulmonale |
| Mondo ID | MONDO:0004596 |
| MeSH | D011660 |
| DOID | DOID:8515 |
| ICD-10-CM | I27.81 |
| ICD-11 | 738218522 |
| SNOMED CT | 274096000 |
| UMLS | C0034072 |
| MedGen | 18765 |
| Is cancer (heuristic) | no |
Also known as: cor pulmonale · disease, pulmonary heart · diseases, pulmonary heart · heart disease, pulmonary · heart diseases, pulmonary · pulmonary heart disease · pulmonary heart diseases
Data availability: 19 GWAS associations (6 studies).
Disease family
This is a subtype of congestive heart failure. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › heart failure › congestive heart failure › cor pulmonale
Related subtypes (4): rheumatic congestive heart failure, diastolic heart failure, systolic heart failure, left ventricular failure
Subtypes (2): chronic pulmonary heart disease, acute cor pulmonale
Genetics & variants
GWAS landscape
19 GWAS associations across 6 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr9:133266456 | 1e-75 | C | 0.26 | |
| chr4:154604124 | 5e-53 | A | 0.2 | |
| chr1:169549811 | 1e-52 | T | 0.52 | |
| chr4:186279396 | 1e-44 | T | 0.17 | |
| chr10:69454239 | 2e-30 | T | 0.2 | |
| chr11:46739505 | 3e-29 | A | 0.52 | |
| chr19:10632450 | 7e-18 | T | 0.12 | |
| chr10:119250744 | 5e-17 | G | 0.14 | |
| chr9:5073770 | 1e-13 | T | 1.2 | |
| chr20:35205356 | 3e-12 | A | 0.09 | |
| chr11:55803472 | 4e-11 | A | 0.52 | |
| chr16:81837364 | 5e-11 | T | 0.11 | |
| chrX:154969895 | 9e-09 | C | 0.06 | |
| chr6:31242054 | 3e-08 | A | 0.1 | |
| chr12:48451439 | 3e-08 | T | 2.59 | |
| chr12:8098766 | 3e-08 | G | 2.23 | |
| chr8:115783780 | 4e-08 | G | 2.26 | |
| chr5:146799766 | 5e-08 | A | 0.81 | |
| rs116879109 | 3e-07 | SLC14A2 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473547 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 15,155 | 443,285 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667840 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 15,155 | 443,285 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473549 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 3,124 | 455,316 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90043962 | Jiang L | 2021 | 2,971 | 453,377 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90652074 | Liu TY | 2025 | 1,048 | 233,745 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90473546 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 302 | 8,913 | Whole-genome sequencing of 490,640 UK Biobank participants. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 19 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 18 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 18 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr9:133266456 | 1e-75 | Tier 4: intronic/intergenic | ||||||
| chr4:154604124 | 5e-53 | Tier 4: intronic/intergenic | ||||||
| chr1:169549811 | 1e-52 | Tier 4: intronic/intergenic | ||||||
| chr4:186279396 | 1e-44 | Tier 4: intronic/intergenic | ||||||
| chr10:69454239 | 2e-30 | Tier 4: intronic/intergenic | ||||||
| chr11:46739505 | 3e-29 | Tier 4: intronic/intergenic | ||||||
| chr19:10632450 | 7e-18 | Tier 4: intronic/intergenic | ||||||
| chr10:119250744 | 5e-17 | Tier 4: intronic/intergenic | ||||||
| chr9:5073770 | 1e-13 | Tier 4: intronic/intergenic | ||||||
| chr20:35205356 | 3e-12 | Tier 4: intronic/intergenic | ||||||
| chr11:55803472 | 4e-11 | Tier 4: intronic/intergenic | ||||||
| chr16:81837364 | 5e-11 | Tier 4: intronic/intergenic | ||||||
| chrX:154969895 | 9e-09 | Tier 4: intronic/intergenic | ||||||
| chr6:31242054 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr12:48451439 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr12:8098766 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr8:115783780 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chr5:146799766 | 5e-08 | Tier 4: intronic/intergenic | ||||||
| rs116879109 | 18 | 45314401 | T>A | 0.05 | intron_variant | SLC14A2 | 3e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00918866 | PHASE4 | COMPLETED | A Study of Commercial DEFINITY® to Monitor the Effects of the Heart’s Pulmonary Artery Pressure |
| NCT06922916 | Not specified | NOT_YET_RECRUITING | Perioperative Risk Factors Related to the Prognosis of Lung Transplantation: A Retrospective Study |
| NCT00834145 | Not specified | UNKNOWN | Effect of Normatec Pump for Relief of Leg Edema in Patients With Right Heart Failure |
| NCT01554774 | Not specified | COMPLETED | Non-invasive Assessment of Pulmonary Vascular Resistance in Elderly Patients With Chronic Obstructive Pulmonary Disease |
| NCT02976324 | Not specified | COMPLETED | The Effect of External Diaphragmatic Pacemaker on the Patients With Chronic Cor Pulmonale |
| NCT03243994 | Not specified | COMPLETED | Small Intestinal Absorption in Patients With Chronic Obstructive Pulmonary Disease and Cor Pulmonale |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PERFLUTREN | 4 | 1 |
Related Atlas pages
- Drugs: Perflutren