Gene: TPM3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR 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 		0.740 GeneticVariation disease CLINVAR 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 		0.740 GeneticVariation disease BEFREE Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. 23924754 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 24507666 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 Biomarker disease GENOMICS_ENGLAND Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 23886664 2013
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 24095155 2013
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 22798622 2012
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. 21357678 2011
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 20554445 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. 19953533 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease UNIPROT Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. 19953533 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease UNIPROT These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. 20951040 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease BEFREE Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. 19953533 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease BEFREE These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. 20951040 2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR TPM3 mutation in one of the original cases of cap disease. 19487656 2009
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR A TPM3 mutation causing cap myopathy. 19553118 2009
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 Biomarker disease GENOMICS_ENGLAND We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members. 18300303 2008