XPNPEP1, X-prolyl aminopeptidase 1, 7511

N. diseases: 20; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE Frameshift (+1) proteins such as APP(+1) and UBB(+1) accumulate in sporadic cases of Alzheimer disease (AD) and in older subjects with Down syndrome (DS). 16432153 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 Biomarker disease BEFREE Moreover, beta APP+1 and UBB+1 proteins accumulate in the neuropathological hallmarks of AD. 10911966 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.040 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.030 Biomarker disease BEFREE One set of motifs frequently lost in these cancer-associated truncations is the SAMP repeats that mediate interactions between APC and Axin. 26446838 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.030 Biomarker disease BEFREE Our data showed that a short domain containing the first SAMP repeat in truncated APC was required to stimulate Axin oligomerisation. 24722208 2014
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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 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
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.030 GeneticVariation disease BEFREE Mammalian APC2, which closely resembles APC in overall domain structure, was functionally analyzed and shown to contain two SAMP domains, both of which are required for binding to conductin. 10021369 1999
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 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
CUI: C0009319
Disease: Colitis
Colitis
0.020 Biomarker disease BEFREE Furthermore, preemptive dexamethasone treatment of DSS-challenged SAMP mice led to changes in flora composition without preventing the development of colitis. 31843928 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 Biomarker disease BEFREE In the present study, we show that neutralization of IL-1α by a specific monoclonal antibody against murine IL-1α was highly effective in reducing inflammation and damage in SAMP mice, mice that spontaneously develop a Crohn's-like ileitis. 31843928 2019
CUI: C0009319
Disease: Colitis
Colitis
0.020 Biomarker disease BEFREE Epicutaneous tolerance to a model antigen prevented intestinal inflammation in the dextran sodium sulfate and SAMP-YITFc models and importantly could halt disease in mice already experiencing weight loss in the T-cell transfer model of colitis. 29019858 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 Biomarker disease BEFREE We have identified Pparg as a susceptibility gene in both the SAMP/Yit mouse and in human Crohn's disease. 15685547 2005
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.010 Biomarker group BEFREE DHA Selectively Protects SAMP-8-Associated Cognitive Deficits Through Inhibition of JNK. 29911253 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 Biomarker disease BEFREE DHA Selectively Protects SAMP-8-Associated Cognitive Deficits Through Inhibition of JNK. 29911253 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation group BEFREE Finally, on PET imaging study using [<sup>18</sup>F]APP-1 with tumor-bearing mice, the H3255 tumor (L858R mutant) was more clearly visualized than the H1975 tumor (L858R/T790M mutant). 28435529 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 Biomarker disease BEFREE Of particular note were opposing alterations of Xaa-Pro Aminopeptidases-1 and -2 (XPNPEP-1 and -2): a strong decrease of XPNPEP-2 in ccRCC was accompanied by abundant presence of the related protease XPNPEP-1. 29245961 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation group BEFREE Of 126 spontaneously hypertensive stroke-prone rat genes, 10 were nominally associated with WMH volume or score in subjects from LBC1936, of which 5 (AFP, ALB, GNAI1, RBM8a, and MRPL18) were associated with both WMH volume and score (P<0.05); 2 of the 10 (XPNPEP1, P=6.7×10(-5); FARP1, P=0.024) plus another spontaneously hypertensive stroke-prone rat gene (USMG5, P=0.00014), on chromosomes 10, 13, and 10 respectively, were associated with WMH in subjects from CHARGE. 25586835 2015
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.010 AlteredExpression disease BEFREE Moreover, expression data suggest that ADD3, but not XPNPEP1, is differentially expressed in BA patients. 24104524 2014
Congenital atresia of extrahepatic bile duct
0.010 AlteredExpression disease BEFREE Moreover, expression data suggest that ADD3, but not XPNPEP1, is differentially expressed in BA patients. 24104524 2014
CUI: C0010200
Disease: Coughing
Coughing
0.010 Biomarker phenotype BEFREE In addition, genetic interactions between peptidases involved in kinins levels (CPN1 and XPNPEP1) and proteins related to prostaglandin metabolism (PTGIS and PTGIR) strongly modify the risk of ACEi-induced cough presentation (0.102≤OR≤0.384 for protective combinations and 2.732≤OR≤7.216 for risk combinations). 21052031 2011