SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Welander Distal Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		0.300 GermlineModifyingMutation disease ORPHANET TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. 29457785 2018