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
TTR and cardiomyopathy are reported together in 3 articles.
Gene
TTR
- HGNC
- HGNC:12405
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Cardiomyopathy
- HPO
- HP:0001638
618articles
618mentions
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
3 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 | 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 |
| phenotype | cardiomyopathy | “The NGS panel comprised 19 genes associated with hypertrophic cardiomyopathy (HCM) and its phenocopies.” | 0.98 | phenotype_alias_lexicon_v2 |
| 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 |
| 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 |
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 | 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 |
| phenotype | cardiomyopathy | “BACKGROUND: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ.” | 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 | 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 |
Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy.
PMID 28475415 | DOI 10.1080/13506129.2017.1322573 · Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2017 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTR | “One of the HCM phenocopies is transthyretin amyloidosis (ATTR), caused by mutations in the transthyretin (TTR) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V30M | “RESULTS: In four patients (1.2%), a TTR mutation was detected (E7G, V30M, T119M, V122I).” | 0.82 | literature_variant_regex_v2 |
| variant | T119M | “RESULTS: In four patients (1.2%), a TTR mutation was detected (E7G, V30M, T119M, V122I).” | 0.82 | literature_variant_regex_v2 |