Source: BEFREE

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 GeneticVariation 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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation 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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation BEFREE These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. 20951040

2010
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation BEFREE 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