Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease UNIPROT Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 30285720 2018
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 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: 7169
Gene Symbol: TPM2
TPM2 		0.730 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: 7169
Gene Symbol: TPM2
TPM2 		0.730 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: 7169
Gene Symbol: TPM2
TPM2 		0.730 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: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR The E117K mutation in β-tropomyosin disturbs concerted conformational changes of actomyosin in muscle fibers. 24657080 2014
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease GENOMICS_ENGLAND Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 23413262 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GermlineCausalMutation disease ORPHANET Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. 23401156 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 23413262 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. 23378224 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease UNIPROT First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 23678273 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease BEFREE Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). 23850728 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation. 23689010 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 23886664 2013
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. 22084935 2012
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease BEFREE We determined the frequency of MYH3, TNNT3, and TPM2 mutations in patients with idiopathic clubfoot, vertical talus, and distal arthrogryposis type 1 (DA1). 19142688 2009
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease UNIPROT Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 17339586 2007
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease GENOMICS_ENGLAND Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 17339586 2007
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607 2003
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607 2003
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 CausalMutation disease CLINVAR Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. 11738357 2002
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease BEFREE We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. 9012416 1997
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 GeneticVariation disease CLINVAR
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.730 Biomarker disease CTD_human
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		0.540 GeneticVariation disease BEFREE A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. 26374086 2016