Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 30285720

2018
dbSNP: rs137853305
rs137853305
TPM2
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
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 23678273

2013
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 17339586

2007
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607

2003