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EPAS1 and congenital heart disease are reported together in 1 article.
Gene
EPAS1
- HGNC
- HGNC:3374
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital heart disease
363articles
363mentions
12co-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 60Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma.
PMID 39426935 | DOI 10.1016/j.beem.2024.101955 · Best practice & research. Clinical endocrinology & metabolism · 2024 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EPAS1 | “Pathogenic variants (PVs) in EPAS1, which encodes hypoxia-inducible factor-2α (HIF-2α), could be the underlying genetic cause of about 3%-6% of pheochromocytoma and paragangliomas (PPGLs).” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “PVs in EPAS1 that have been found in related sporadic PPGLs have also been associated with hypoxic conditions including cyanotic congenital heart disease, hemoglobinopathies and high altitude.” | 0.98 | phenotype_alias_lexicon_v2 |