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MYBPC3 and Fabry disease are reported together in 2 articles.
Gene
MYBPC3
- HGNC
- HGNC:7551
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Fabry disease
19articles
19mentions
6co-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 60Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.
PMID 41998504 | PMCID PMC13231718 | DOI 10.1186/s12872-026-05834-5 · BMC cardiovascular disorders · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYBPC3 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “BACKGROUND: Genetic analysis using massive parallel sequencing is crucial for the accurate and early diagnosis of hereditary hypertrophic cardiomyopathies and their phenocopies, especially transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYH7 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| gene | TTR | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
PMID 38716318 | PMCID PMC11070997 | DOI 10.21037/cdt-23-191 · Cardiovascular diagnosis and therapy · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYBPC3 | “Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | Fabry disease | “Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYH7 | “Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants.” | 0.98 | hgnc_dict_v1 |
| gene | TTR | “The HCM phenocopy variants included variants in the TTR (n=7, 1.3%) and GLA (n=2, 0.4%) genes.” | 0.98 | hgnc_dict_v1 |