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PRKAG2 and cardiomyopathy are reported together in 2 articles.
Gene
PRKAG2
- HGNC
- HGNC:9386
3articles
3mentions
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
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 | PRKAG2 | “Other classical phenocopies, Noonan syndrome, Danon disease, and PRKAG2, comprised another 2.0%, 0.9%, and 0.7% of the cohort, respectively.” | 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 |
Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.
PMID 27841901 | PMCID PMC5101433 | DOI 10.5830/CVJA-2015-075 · Cardiovascular journal of Africa · 2016 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRKAG2 | “Genomic DNA was screened for mutations in 15 genes that cause HCM, i.e. cardiac myosin-binding protein C (MYBPC3), cardiac β-myosin heavy chain (MYH7), cardiac troponin T2 (TNNT2), cardiac troponin I (TNNI3), regulatory light chain of myosin (MYL2), essential light chain of myosin (MYL3), tropomyosin 1 (TPM1), phospholamban (PLN), α-actin (ACTC1), cysteine and glycine-rich protein 3 (CSRP3), AMP-activated protein kinase (PRKAG2), α-galactosidase (GLA), four-and-a-half LIM domains 1 (FHL1), lamin A/C (LMNA) and lysosome-associated membrane protein 2 (LAMP2).” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | MYBPC3 | “Genomic DNA was screened for mutations in 15 genes that cause HCM, i.e. cardiac myosin-binding protein C (MYBPC3), cardiac β-myosin heavy chain (MYH7), cardiac troponin T2 (TNNT2), cardiac troponin I (TNNI3), regulatory light chain of myosin (MYL2), essential light chain of myosin (MYL3), tropomyosin 1 (TPM1), phospholamban (PLN), α-actin (ACTC1), cysteine and glycine-rich protein 3 (CSRP3), AMP-activated protein kinase (PRKAG2), α-galactosidase (GLA), four-and-a-half LIM domains 1 (FHL1), lamin A/C (LMNA) and lysosome-associated membrane protein 2 (LAMP2).” | 0.98 | hgnc_dict_v1 |
| gene | MYH7 | “Genomic DNA was screened for mutations in 15 genes that cause HCM, i.e. cardiac myosin-binding protein C (MYBPC3), cardiac β-myosin heavy chain (MYH7), cardiac troponin T2 (TNNT2), cardiac troponin I (TNNI3), regulatory light chain of myosin (MYL2), essential light chain of myosin (MYL3), tropomyosin 1 (TPM1), phospholamban (PLN), α-actin (ACTC1), cysteine and glycine-rich protein 3 (CSRP3), AMP-activated protein kinase (PRKAG2), α-galactosidase (GLA), four-and-a-half LIM domains 1 (FHL1), lamin A/C (LMNA) and lysosome-associated membrane protein 2 (LAMP2).” | 0.98 | hgnc_dict_v1 |