SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 GeneticVariation phenotype BEFREE Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations. 30638816 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype HPO