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RYR2 and long QT syndrome are reported together in 1 article.
Gene
RYR2
- HGNC
- HGNC:10484
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Long QT syndrome
44articles
44mentions
10co-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 60Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
PMID 28449774 | PMCID PMC5405216 | DOI 10.1016/j.jacc.2017.02.046 · Journal of the American College of Cardiology · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RYR2 | “Gene-based rare variants association analysis showed enrichment of rare predicted deleterious variants in RYR2 (p = 5 × 10-5).” | 0.98 | hgnc_dict_v1 |
| phenotype | long QT syndrome | “The main etiologies established were catecholaminergic polymorphic ventricular tachycardia and long QT syndrome (17 [6%] and 11 [4%], respectively).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes.” | 0.98 | phenotype_alias_lexicon_v2 |