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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
Arrhythmia
555articles
555mentions
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 60Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.
PMID 28391114 | DOI 10.1016/j.forsciint.2017.02.038 · Forensic science international · 2017 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | arrhythmia | “Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | E1053K | “Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.” | 0.82 | literature_variant_regex_v2 |
| gene | SCN5A | “Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM).” | 0.98 | phenotype_alias_lexicon_v2 |