XPNPEP1, X-prolyl aminopeptidase 1, 7511

N. diseases: 20; N. variants: 0
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 Biomarker disease BEFREE APP(+1) is present in many neurons and beaded neurites in very young cases of DS, which suggests that it is axonally transported. 16432153 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 AlteredExpression disease BEFREE Taken together, these data show that co-expression of APP695 and APP(+1) affects the processing of APP695 in a pro-amyloidogenic way and this could gradually contribute to Alzheimer's disease pathology, as has been implicated in Down's syndrome patients. 15255950 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.030 Biomarker disease BEFREE The occurrence of +1 frameshifted proteins, such as amyloid precursor protein (APP+1) and ubiquitin-B (UBB+1) in Down syndrome (DS) has been linked to the onset of Alzheimer's disease (AD). 10666673 1999