PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Pelizaeus-Merzbacher Disease, Atypical ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751915
Disease: Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Atypical 		0.400 Biomarker disease CTD_human Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. 18571143 2008
CUI: C0751915
Disease: Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Atypical 		0.400 CausalMutation disease CLINVAR