Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker BEFREE Human TPM3 gene encoding thin filament protein is associated with myopathies. 28211977

2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker BEFREE We confirm that slow myofibre hypotrophy is a diagnostic hallmark of TPM3-myopathy, and is commonly accompanied by skewing of fibre-type ratios (either slow or fast fibre predominance). 26307083

2015
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 GeneticVariation BEFREE Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. 26418456

2015
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker BEFREE Our study confirms the extreme variability of morphological findings in TPM3-related myopathies, and proves that cap and nemaline bodies are two sides of the same 'coin'. 24095155

2013
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker BEFREE These findings provide a scientific basis for differential therapeutics aimed at restoring contractile performance in patients with TPM3-based versus NEB-based myopathy. 21357678

2011