Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 GeneticVariation 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