TPM1, tropomyosin 1, 7168

N. diseases: 117; N. variants: 62
Disease: Nemaline Myopathy, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		0.020 Biomarker disease BEFREE These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies. 10590887 1999
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		0.020 GeneticVariation disease BEFREE This mutation in the alpha-tropomyosin gene TPM3 has previously been excluded as causing autosomal recessive nemaline myopathy. 8580725 1995