SNCA, synuclein alpha, 6622

N. diseases: 449; N. variants: 66
Disease: Maturation defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334070
Disease: Maturation defect
Maturation defect 		0.010 Biomarker phenotype BEFREE Unlike other synucleinopathies, in this disorder the synaptic protein, α-synuclein (α-syn), predominantly accumulates in oligodendroglial cells (and to some extent in neurons), leading to maturation defects of oligodendrocytes, demyelination, and neurodegeneration. 29058121 2018