PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
Disease: Frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 GeneticVariation disease BEFREE Importantly, this effect on GCase activity was rescued by treatment with saposin C. Together, these findings suggested that reduced GCase activity due to impaired processing of prosaposin may contribute to pathogenesis of FTD resulting from PGRN mutations. 31600775 2020
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 Biomarker disease BEFREE Strikingly, saposin D, SCMAS as well as the lysosomal proteins CTSD and LAMP1/2 are all elevated in patients with FTLD-TDP/GRN. 24619111 2014