PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Gaucher Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779322625
rs779322625
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0017205
Disease:
Gaucher Disease 		0.020 GeneticVariation BEFREE Our findings provide an atomistic-level explanation for GCase activation and the precise mechanism through which N370S and L444P cause Gaucher disease. 30808805 2019
dbSNP: rs779322625
rs779322625
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
CUI: C0017205
Disease:
Gaucher Disease 		0.020 GeneticVariation BEFREE Interestingly, it is involved in Gaucher disease only when it forms part of a double-mutant allele, usually with the L444P mutation. 26965692 2017