PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Metachromatic Leukodystrophy, Infant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		0.310 GeneticVariation disease BEFREE Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081 2019
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		0.310 GermlineCausalMutation disease ORPHANET A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. 24478108 2014