Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 Biomarker 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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 Biomarker 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
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 Biomarker 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
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 Biomarker GENOMICS_ENGLAND Mutations in TPM3 are a common cause of congenital fiber type disproportion. 18300303

2008
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C1836448
Disease: Nemaline myopathy 1
Nemaline myopathy 1 		0.700 Biomarker GENOMICS_ENGLAND Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 10619715

1999
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker 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
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.500 Biomarker GENOMICS_ENGLAND Probands from 76 other nemaline myopathy families have now been screened for TPM3 mutations. 10619715

1999
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.340 Biomarker GENOMICS_ENGLAND Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 10619715

1999