PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Metachromatic Leukodystrophy due to Saposin B Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.800 GeneticVariation UNIPROT A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309 2000
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.800 GeneticVariation UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694 1999
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.800 GeneticVariation UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586 1991
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.800 GeneticVariation UNIPROT Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219 1990
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		0.800 GeneticVariation UNIPROT Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574 1990
dbSNP: rs121918104
rs121918104
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0268262
Disease:
Metachromatic Leukodystrophy due to Saposin B Deficiency 		G 0.800 CausalMutation CLINVAR