PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Pelizaeus-Merzbacher Disease, Atypical ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs132630292
rs132630292 		0.925 0.120 X 103786707 stop gained G/A snv
CUI: C0751915
Disease: Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0