rs137853306, TPM2

N. diseases: 6
Disease: Myopathies, Nemaline ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
0.010 GeneticVariation BEFREE The E41K mutation in TPM2 gene encoding muscle regulatory protein beta-tropomyosin is associated with nemaline myopathy and cap disease. 29792862 2018