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.
Knowledge-base search
About your search
EIF2AK3 and hearing loss are reported together in 1 article.
Gene
EIF2AK3
- HGNC
- HGNC:3255
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
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 60Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.
PMID 41275391 | PMCID PMC12780942 | DOI 10.1515/jpem-2025-0316 · Journal of pediatric endocrinology & metabolism : JPEM · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Patients with a disrupted WFS1 gene were found to have deafness (92.8 %) and optic atrophy (64 %).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | WFS1 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | ZNF808 | “Pathogenic variants in recently reported novel genes ZNF808, NARS2, and FICD were detected in 8.5 %, 4.2%, and 1.4 % of patients, respectively.” | 0.98 | hgnc_dict_v1 |