NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome
0.300 Biomarker disease CTD_human Nicotine and Delta(9)-tetrahydrocannabinol withdrawal induce Narp in the central nucleus of the amygdala. 19084905 2009
CUI: C0086189
Disease: Drug Withdrawal Symptoms
Drug Withdrawal Symptoms
0.300 Biomarker phenotype CTD_human Nicotine and Delta(9)-tetrahydrocannabinol withdrawal induce Narp in the central nucleus of the amygdala. 19084905 2009
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms
0.300 Biomarker phenotype CTD_human Nicotine and Delta(9)-tetrahydrocannabinol withdrawal induce Narp in the central nucleus of the amygdala. 19084905 2009
Neuropathy ataxia and retinis pigmentosa
0.060 Biomarker disease BEFREE A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. 30414414 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 PosttranslationalModification disease BEFREE There was a significant difference in NPTX2 methylation between pancreatic cancer and chronic pancreatitis (P < 0.01). 23360791 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 PosttranslationalModification disease BEFREE The objective of this study is to investigate the abnormal patterns of DNA methylation of NPTX2 in pancreatic cancers, and its role in the transcriptional silencing of NPTX2. 22806544 2012
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 PosttranslationalModification disease BEFREE The role of quantitative NPTX2 hypermethylation as a novel serum diagnostic marker in pancreatic cancer. 21778928 2012
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 Biomarker disease BEFREE Additionally, a full-length NPTX2 cDNA was transfected into pancreatic cancer cells (PANC-1) and we obtained the stably transfected cells (PANC-1-NPTX2). 21161403 2011
Neuropathy ataxia and retinis pigmentosa
0.060 Biomarker disease BEFREE To verify whether enhanced substrate-level phosphorylation increases viability and adenosine 5'-triphosphate (ATP) content of cells with neuropathy, ataxia, and retinitis pigmentosa/maternally inherited Leigh syndrome (NARP/MILS) mitochondrial DNA mutations and ATP synthase dysfunction. 19667215 2009
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 PosttranslationalModification disease BEFREE The quantitative analysis of NPTX2 hypermethylation may play a role in making highly sensitive and less invasive diagnosis of pancreatic cancer. 17895837 2007
Neuropathy ataxia and retinis pigmentosa
0.060 GeneticVariation disease BEFREE We have investigated mitochondrial function in lymphocytes from individuals carrying the 8993T>C mutation: the results were compared with data from five 8993T>G NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) patients. 17568559 2007
Neuropathy ataxia and retinis pigmentosa
0.060 GeneticVariation disease BEFREE In the present study we show that the function of the F1F0-ATPase is impaired in lymphocytes from ten individuals harbouring the mtDNA T8993G point mutation associated with NARP (neuropathy, ataxia and retinitis pigmentosa) and Leigh syndrome. 16402916 2006
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.060 GeneticVariation disease BEFREE These genes include UCHL1 (methylated in 100% of 42 pancreatic cancers), NPTX2 (98%), SARP2 (95%), CLDN5 (93%), reprimo (86%), LHX1 (76%), WNT7A (71%), FOXE1 (69%), TJP2 (64%), CDH3 (19%), and ST14 (10%). 12839967 2003
Neuropathy ataxia and retinis pigmentosa
0.060 Biomarker disease BEFREE These include NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh syndrome), and FBSN (familial bilateral striatal necrosis). 11735378 2001
Neuropathy ataxia and retinis pigmentosa
0.060 GeneticVariation disease BEFREE Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). 10396197 1999
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.050 Biomarker disease BEFREE It was commonly observed in subjects with chronic progressive external ophthalmoplegia (cPEO) and with primary myopathy without cPEO, but also-although less frequently-in multisystem phenotypes such as MELAS, MERFF, Kearns Sayre syndrome, NARP, MNGIE and Leigh syndrome. 30710167 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.050 Biomarker disease BEFREE Prenatal diagnosis and preimplantation genetic diagnosis for couples at increased risk of having children with mtDNA-associated Leigh syndrome or NARP are possible by analysis of mtDNA extracted from non-cultured fetal cells or from single blastomeres, respectively. 28946177 2018
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.050 Biomarker disease BEFREE A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 29054413 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.050 Biomarker disease BEFREE There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber's hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome. 22215554 2012
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.050 Biomarker disease BEFREE The importance of mitochondrial biogenesis in the pathogenesis of mitochondrial diseases has been widely recognised but little is known about it with regard to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome. 21550418 2011
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.050 Biomarker disease BEFREE Here we establish a rapid, yeast-based assay to screen for drugs active against human inherited mitochondrial diseases affecting ATP synthase, in particular NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 21715656 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.050 GeneticVariation disease BEFREE Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome depending on the amount of mutant mtDNA. 19046652 2009
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.050 GeneticVariation disease BEFREE In the present study we show that the function of the F1F0-ATPase is impaired in lymphocytes from ten individuals harbouring the mtDNA T8993G point mutation associated with NARP (neuropathy, ataxia and retinitis pigmentosa) and Leigh syndrome. 16402916 2006
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.050 Biomarker disease BEFREE Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 11589167 2001
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
0.050 Biomarker disease BEFREE To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 9222207 1997