Congenital anomaly of cardiovascular system
diseaseOn this page
Also known as cardiovascular system development diseasecongenital Abnormality of the circulatory systemcongenital cardiovascular Abnormalitycongenital cardiovascular anomalydisorder of cardiovascular system development
Summary
Congenital anomaly of cardiovascular system (MONDO:0024239) is a disease (an umbrella term covering 5 Mondo subtypes) with 5 GWAS associations across 7 studies. A subtype of cardiovascular disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital anomaly of cardiovascular system |
| Mondo ID | MONDO:0024239 |
| NCIT | C35729 |
| SNOMED CT | 9904008 |
| UMLS | C3665496 |
| MedGen | 777113 |
| Is cancer (heuristic) | no |
Also known as: cardiovascular system development disease · congenital Abnormality of the circulatory system · congenital anomaly of cardiovascular system · congenital cardiovascular Abnormality · congenital cardiovascular anomaly · disorder of cardiovascular system development
Data availability: 5 GWAS associations (7 studies).
Disease family
This is a subtype of cardiovascular disorder. 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 › congenital anomaly of cardiovascular system
Related subtypes (5): autoimmune disorder of cardiovascular system, heart disorder, vascular disorder, autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, cardiovascular neoplasm
Subtypes (5): venous hemangioma, congenital heart disease, congenital heart malformation, congenital arteriovenous fistula, persistent fetal circulation syndrome
Genetics & variants
GWAS landscape
5 GWAS associations across 7 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs867685861 | 2e-12 | DOK7 | G | 3.48 |
| rs373730599 | 4e-12 | GNA12 - CARD11 | G | 2.9 |
| rs79736382 | 3e-11 | ANK2, ANK2-AS1 | A | 1.09 |
| rs536742388 | 3e-11 | FANCC | C | 2.86 |
| rs3127482 | 2e-07 | SPMIP3 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90474259 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 3,128 | 455,312 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90651937 | Liu TY | 2025 | 1,848 | 234,318 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479069 | Verma A | 2024 | 1,065 | 448,295 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480557 | Verma A | 2024 | 355 | 121,025 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482449 | Verma A | 2024 | 355 | 121,025 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474265 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 264 | 458,176 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90436749 | Zhou W | 2018 | 168 | 406,165 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
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 | 5 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 4 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 5 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs867685861 | 4 | 3499839 | G>A,T | 0 | intron_variant | DOK7 | 2e-12 | Tier 4: intronic/intergenic |
| rs373730599 | 7 | 2884106 | G>A,T | 0.001 | intron_variant | GNA12 - CARD11 | 4e-12 | Tier 4: intronic/intergenic |
| rs79736382 | 4 | 112981089 | A>C,G | 0.007 | intron_variant | ANK2, ANK2-AS1 | 3e-11 | Tier 4: intronic/intergenic |
| rs536742388 | 9 | 95266712 | C>A,T | 0 | intron_variant | FANCC | 3e-11 | Tier 4: intronic/intergenic |
| rs3127482 | 1 | 244380732 | C>T | 0.05 | intron_variant | SPMIP3 | 2e-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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.