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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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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 60KIF4 regulates neuronal morphology and seizure susceptibility via the PARP1 signaling pathway.
PMID 36482480 | PMCID PMC9735414 | DOI 10.1083/jcb.202208108 · The Journal of cell biology · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “Here, we identified a point mutation in KIF4A, a member of kinesin superfamily molecular motors, in patients with neurological disorders such as epilepsy, developmental delay, and intellectual disability.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R728Q | “KIF4 is involved in the poly (ADP-ribose) polymerase (PARP) signaling pathway, and the mutation (R728Q) strengthened its affinity with PARP1 through elongation of the KIF4 coiled-coil domain.” | 0.82 | literature_variant_regex_v2 |
| gene | PARP1 | “KIF4 regulates neuronal morphology and seizure susceptibility via the PARP1 signaling pathway.” | 0.98 | hgnc_dict_v1 |
| gene | KIF4A | “Here, we identified a point mutation in KIF4A, a member of kinesin superfamily molecular motors, in patients with neurological disorders such as epilepsy, developmental delay, and intellectual disability.” | 0.98 | hgnc_dict_v1 |