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KCNJ10 and developmental delay are reported together in 1 article.
Gene
KCNJ10
- HGNC
- HGNC:6256
5articles
5mentions
5variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
PMID 28747464 | PMCID PMC5646198 | DOI 10.1152/jn.00284.2017 · Journal of neurophysiology · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNJ10 | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNT1 | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.” | 0.93 | phenotype_alias_lexicon_v2 |