TPM1, tropomyosin 1, 7168

N. diseases: 117; N. variants: 62
Disease: Disorder of skeletal muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 Biomarker group BEFREE Mutations have been identified in alpha-tropomyosin (Tm), a key regulatory protein in striated muscle cells, that are associated with a human cardiac myopathy, hypertrophic cardiomyopathy (FHC) and a human skeletal myopathy, nemaline myopathy (NM). 11199327 2000