SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
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 Patients with SACS variants demonstrated developmental delay and progressive ataxia before the age of 3. 31741144 2020
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.110 Biomarker disease HPO