Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
0.010 Biomarker disease BEFREE Substitutions of less conserved amino acids, truncations, absence of the protein and PLP-specific mutations caused the milder forms of PMD and SPG. 11093273 2000