Advanced search
Combine gene, variant, phenotype, region and year filters
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.
Knowledge-base search
About your search
RYR2 and familial hypercholesterolemia are reported together in 1 article.
Gene
RYR2
- HGNC
- HGNC:10484
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
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 60Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.
PMID 41564389 | PMCID PMC13021037 | DOI 10.17305/bb.2026.13200 · Biomolecules & biomedicine · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RYR2 | “The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4).” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PAH | “We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants.” | 0.98 | hgnc_dict_v1 |
| gene | SCN10A | “The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4).” | 0.98 | hgnc_dict_v1 |