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 Biomarker disease CTD_human
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 7704029 1995
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 10587521 1999
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 Biomarker disease GENOMICS_ENGLAND Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 10619715 1999
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 10619715 1999
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. 12467750 2002
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 17376686 2007
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 GeneticVariation disease UNIPROT A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 17376686 2007
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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 CausalMutation disease CLINVAR 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 CLINVAR 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 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 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 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 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 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 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 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 GeneticVariation disease UNIPROT Novel TPM3 mutation in a family with cap myopathy and review of the literature. 24239060 2014