rs121964853, TPM3

N. diseases: 2
Disease: Congenital Fiber Type Disproportion ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation CLINVAR Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083 2015
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation UNIPROT Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. 20951040 2010
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation UNIPROT Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 19953533 2010
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation CLINVAR We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303 2008
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation BEFREE We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303 2008
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 GeneticVariation UNIPROT We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303 2008
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
0.810 CausalMutation CLINVAR