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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.
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STAT6 and epilepsy are reported together in 1 article.
Gene
STAT6
- HGNC
- HGNC:11368
20articles
20mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
asthma 4atopic dermatitis 2congenital myopathy 1epilepsy 1hearing loss 1lung cancer 1multiple sclerosis 1neurodevelopmental disorder 1
Reported variants (articles · ClinVar status)
Phenotype
Epilepsy
- HPO
- HP:0001250
2,084articles
2,084mentions
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 60GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.
PMID 42159714 | DOI 10.1007/s00428-026-04593-0 · Virchows Archiv : an international journal of pathology · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STAT6 | “Tumor cells were GLUT-1 positive and negative for S100, GFAP, pan-cytokeratin, SMA, WT-1, CD31, CD34, STAT6, β-catenin, and HMB-45, with Ki-67 nuclear staining of 10-15% of cells.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “We report an additional case arising in the tongue of a 9-year-old boy with growth hormone insufficiency and epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SHOX | “GLI1-fusion neoplasm of the tongue: report of a pediatric case associated with SHOX deficiency disorder.” | 0.98 | hgnc_dict_v1 |
| gene | GLI1 | “GLI1-altered soft tissue tumor is a recently recognized entity featuring GLI1 fusions or amplifications, with predilection for the head and neck region and potential for metastasis.” | 0.98 | hgnc_dict_v1 |