PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Metachromatic leukodystrophy, juvenile type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		0.300 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014