Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group BEFREE A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8. 28780615 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Notably, the myopathy-associated mutation of BAG3 (P209L), which lies within the HSPB8-binding motif, deregulated the association between BAG3 and p62/SQSTM1 and the KEAP1-Nrf2 signaling axis. 29405094 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE Recently, the clinical spectrum of HSPB1 and HSPB8 mutations was expanded to also include myopathies. 28969372 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520 2016