Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
About your search

EIF2AK4 and hypertension are reported together in 2 articles.

HGNC
HGNC:19687
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype

Hypertension

828articles
828mentions
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

2 records shown · first 60

Genetic analysis and clinical phenotype of pulmonary arterial hypertension in an Algerian population.

PMID 42001268 | PMCID PMC13092106 | DOI 10.5144/0256-4947.2026.111 · Annals of Saudi medicine · 2026 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
geneEIF2AK4“RESULTS: Pathogenic variants were identified in 6 out of 30 patients (20%) involving BMPR2, SOX17, TBX4, ATP13A3, and EIF2AK4.”0.98hgnc_dict_v1
phenotypehypertension“Genetic analysis and clinical phenotype of pulmonary arterial hypertension in an Algerian population.”0.98phenotype_alias_lexicon_v2
geneBMPR2“OBJECTIVES: To identify pathogenic variants in BMPR2 and other PAH-related genes in Algerian patients, enabling targeted screening of high-risk individuals, refined classification of variants of uncertain significance (VUS), and early, personalized clinical management.”0.98hgnc_dict_v1
geneSOX17“RESULTS: Pathogenic variants were identified in 6 out of 30 patients (20%) involving BMPR2, SOX17, TBX4, ATP13A3, and EIF2AK4.”0.98hgnc_dict_v1
TypeEntitySource evidenceConfidenceExtractor
geneEIF2AK4“A genetic study was done and revealed the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene on chromosome 15, which was diagnostic to heritable PVOD.”0.98hgnc_dict_v1
phenotypehypertension“BACKGROUND: Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension characterized by diffuse venous vasculopathy and increased pulmonary vascular resistance resulting in right-sided heart failure.”0.98phenotype_alias_lexicon_v2