SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Mental deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 GeneticVariation phenotype BEFREE Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. 27545679 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 Biomarker phenotype HPO