SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Progressive cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 GeneticVariation disease BEFREE Homozygous sequestosome 1 (<i>SQSTM1</i>) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy. 31525130 2019
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 Biomarker disease HPO