rs199474716, TPM3

N. diseases: 1
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
0.700 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
0.700 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
0.700 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
0.700 GeneticVariation UNIPROT Mutations in TPM3 are a common cause of congenital fiber type disproportion. 18300303 2008