PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		0.300 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014