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
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
0.610 GeneticVariation disease BEFREE SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 26208961 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
0.610 Biomarker disease GENOMICS_ENGLAND SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 26208961 2015
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
0.610 Biomarker disease CTD_human
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
0.610 CausalMutation disease CLINVAR