SQSTM1, sequestosome 1, 8878

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