Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
0.050 GeneticVariation phenotype BEFREE Substitution of Ala for Thr residue in 155th position in γ-tropomyosin (Tpm3.12) is associated with muscle weakness. 31155291 2019
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
0.050 GeneticVariation phenotype 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
0.050 GeneticVariation phenotype BEFREE Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083 2015
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
0.050 GeneticVariation phenotype BEFREE In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in patients with TPM3 mutations remains largely unknown. 21357678 2011
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
0.050 GeneticVariation phenotype BEFREE The mechanism of muscle weakness was investigated in an Australian family with an M9R mutation in TPM3 (alpha-tropomyosin(slow)). 18716557 2008