SACS, sacsin molecular chaperone, 26278

N. diseases: 106; N. variants: 252
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation disease BEFREE Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. 25401298 2015