TPM3, tropomyosin 3, 7170

N. diseases: 297; N. variants: 25
Disease: Nemaline myopathy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342 2017
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT Novel TPM3 mutation in a family with cap myopathy and review of the literature. 24239060 2014
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 23886664 2013
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 22798622 2012
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. 21357678 2011
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 20554445 2010
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 19953533 2010
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT TPM3 mutation in one of the original cases of cap disease. 19487656 2009
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR A TPM3 mutation causing cap myopathy. 19553118 2009
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT A TPM3 mutation causing cap myopathy. 19553118 2009
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR TPM3 mutation in one of the original cases of cap disease. 19487656 2009
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TPM3 are a common cause of congenital fiber type disproportion. 18300303 2008
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT Mutations in TPM3 are a common cause of congenital fiber type disproportion. 18300303 2008