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RYR2 and intellectual disability are reported together in 1 article.

Gene

RYR2

9articles

9mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

736articles

736mentions

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.

1 records shown · first 60

PMID 30170228 | DOI 10.1016/j.hrthm.2018.08.025 · Heart rhythm · 2019 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	RYR2	“Mutations in the cardiac calcium release channel/ryanodine receptor gene (RYR2) are identified in the majority of patients with CPVT.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“OBJECTIVE: The purpose of this study was to estimate the prevalence of intellectual disability (ID) and other neurodevelopmental disorders (NDDs) in RYR2-associated CPVT (CPVT1) and to study the characteristics of these patients.”	0.98	phenotype_alias_lexicon_v2
phenotype	arrhythmia	“BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon inherited arrhythmia disorder characterized by adrenergically evoked ventricular arrhythmias.”	0.98	phenotype_alias_lexicon_v2
phenotype	neurodevelopmental disorder	“Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.”	0.93	phenotype_alias_lexicon_v2