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ACTA2 and Marfan syndrome are reported together in 1 article.
Gene
ACTA2
- HGNC
- HGNC:130
7articles
7mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Marfan syndrome
19articles
19mentions
7co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC registry of pregnancy and cardiac disease (ROPAC) III.
PMID 40576452 | PMCID PMC12587288 | DOI 10.1093/ehjqcco/qcaf038 · European heart journal. Quality of care & clinical outcomes · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ACTA2 | “In total, 176 pregnancies in 170 women (mean age 32 years, 56% primigravida) with HTAD were included: 122 with Marfan syndrome, 14 with Loeys-Dietz syndrome, 10 with ACTA2 variants, and 30 with other diagnoses.” | 0.98 | hgnc_dict_v1 |
| phenotype | Marfan syndrome | “In total, 176 pregnancies in 170 women (mean age 32 years, 56% primigravida) with HTAD were included: 122 with Marfan syndrome, 14 with Loeys-Dietz syndrome, 10 with ACTA2 variants, and 30 with other diagnoses.” | 0.98 | phenotype_alias_lexicon_v2 |