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SCN5A and familial hypercholesterolemia are reported together in 2 articles.
Gene
SCN5A
- HGNC
- HGNC:10593
24articles
24mentions
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
2 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 | SCN5A | “Clinical evaluation revealed a pathogenic variant in the low-density lipoprotein receptor (LDLR) and likely pathogenic variants in sodium voltage-gated channel alpha subunit 5 (SCN5A) and potassium voltage-gated channel subfamily Q member 1 (KCNQ1); additionally, nine other variants were predicted to be deleterious, including five novel SCN10A variants.” | 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 |
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
PMID 27294413 | PMCID PMC4896275 | DOI 10.1186/s40246-016-0063-5 · Human genomics · 2016 · 28 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SCN5A | “Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Holler P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia F.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | MYC | “Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H.” | 0.98 | hgnc_dict_v1 |
| gene | DDIT4 | “Fogelman O19 DDIT4 gene expression as a prognostic marker in several malignant tumors L.” | 0.98 | hgnc_dict_v1 |