SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Welander distal myopathy, Swedish type ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2931290
Disease: Welander distal myopathy, Swedish type
Welander distal myopathy, Swedish type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2018 2018