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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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GLIS3 and epilepsy are reported together in 1 article.
Gene
GLIS3
- HGNC
- HGNC:28510
11articles
11mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
diabetes mellitus 6primary congenital glaucoma 4developmental delay 2hearing loss 2coronary artery disease 1dyslipidemia 1epilepsy 1lung cancer 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 60Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.
PMID 22060631 | DOI 10.1111/j.1399-5448.2011.00828.x · Pediatric diabetes · 2012 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLIS3 | “Sequencing of KCNJ11, ABCC8, and INS were performed initially on all subjects, and EIF2AK3, GLIS3, SLC2A2, SLC19A2, GCK, IPF1, and NEUROD1 genes were sequenced according to the clinical phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Two patients with isolated PNDM and one with intermediate developmental delay, epilepsy and neonatal diabetes had no identifiable cause.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNJ11 | “BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.” | 0.98 | hgnc_dict_v1 |
| gene | ABCC8 | “BACKGROUND: Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.” | 0.98 | hgnc_dict_v1 |