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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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Phenotype
Parkinson disease
280articles
280mentions
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 60De novo SCN1A missense variant in a patient with Parkinson's disease.
PMID 39568674 | PMCID PMC11576416 | DOI 10.3389/fgene.2024.1496683 · Frontiers in genetics · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Parkinson disease | “De novo SCN1A missense variant in a patient with Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.Arg500Trp | “RESULTS: We identified a heterozygous pathogenic missense mutation (c.1498C>T; p.Arg500Trp) in the SCN1A gene in the patient using the whole-exome sequencing approach.” | 0.95 | hgvs_regex_v1 |
| gene | SCN1A | “De novo SCN1A missense variant in a patient with Parkinson's disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “BACKGROUND: Variants in a gene encoding sodium voltage-gated channel alpha subunit 1 (SCN1A) are known to cause a broad clinical spectrum of epilepsy and associated features, including Dravet syndrome (MIM 607208), non-Dravet developmental and epileptic encephalopathy (MIM 619317), familial febrile seizures (MIM 604403), familial hemiplegic migraine (MIM 609634), and generalized epilepsy with febrile seizures (MIM 604403).” | 0.98 | phenotype_alias_lexicon_v2 |