PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 GeneticVariation disease BEFREE PXDN mutations lead to severe eye disorders, including microphthalmia, cataract, glaucoma, and anterior segment dysgenesis in humans and mice. 31817535 2019
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.020 Biomarker disease BEFREE We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis. 24939590 2015
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.020 GeneticVariation disease BEFREE PXDN mutations lead to severe eye disorders, including microphthalmia, cataract, glaucoma, and anterior segment dysgenesis in humans and mice. 31817535 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 Biomarker disease BEFREE Results from this study indicate that the 2p25.3 duplication disrupting PXDN and MYT1L is a potential autism-causing variant in the pedigree reported here and should receive further consideration as a candidate for autism. 22157634 2012
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE Role of vascular peroxidase 1 in senescence of endothelial cells in diabetes rats. 26142204 2015
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 Biomarker disease BEFREE The NADPH oxidase-ROS-NF-κB transduction pathway, VPO1, oxidative stress and their complicated interactions are implicated in the occurrence and development of COPD combined with PH. 28829513 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE Our study suggests that PXDN, NTN4 and GLIS3 play a functional role in promoting melanoma cellular invasion, and therapeutic approaches directed toward inhibiting the action of these proteins may reduce the incidence or progression of metastasis in melanoma patients. 27172792 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 Biomarker disease BEFREE Thus, we conclude that VPO1 is a crucial regulator of cardiac fibrosis after MI by mediating HOCl/Smad2/3 and ERK1/2 signaling pathways, implying a promising therapeutic target in ischemic cardiomyopathy. 30844643 2019
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		0.010 GeneticVariation disease BEFREE We previously reported two patients with COS who carried a microduplication disrupting the PXDN and MYT1L genes at 2p25.3. 22547139 2012
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.010 Biomarker disease BEFREE Finally, peroxidasin-specific antibodies were also found in serum from patients with anti-MPO vasculitis and were associated with significantly more active clinical disease. 30279272 2018
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 Biomarker disease BEFREE VPO1 Modulates Vascular Smooth Muscle Cell Phenotypic Switch by Activating Extracellular Signal-regulated Kinase 1/2 (ERK 1/2) in Abdominal Aortic Aneurysms. 30371171 2018
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy 		0.010 Biomarker disease BEFREE Thus, we conclude that VPO1 is a crucial regulator of cardiac fibrosis after MI by mediating HOCl/Smad2/3 and ERK1/2 signaling pathways, implying a promising therapeutic target in ischemic cardiomyopathy. 30844643 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Therefore, PXDN may be a biomarker associated with prostate cancer and a potential therapeutic target. 31234468 2019
CUI: C0403529
Disease: Anti-Glomerular Basement Membrane Disease
Anti-Glomerular Basement Membrane Disease 		0.010 Biomarker disease BEFREE We determined whether autoantibodies directed against peroxidasin are also detected in GP. 30279272 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Therefore, PXDN may be a biomarker associated with prostate cancer and a potential therapeutic target. 31234468 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE We identified a novel 8.1-kb human melanoma gene, MG50, derived from subtractive hybridization with a squamous lung carcinoma cell line, LU-1. 11103812 2000
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease BEFREE PXDN was highly expressed in OC tissues and cells. 29661721 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 AlteredExpression disease BEFREE PXDN was highly expressed in OC tissues and cells. 29661721 2018
CUI: C1306726
Disease: Congenital naevus
Congenital naevus 		0.010 Biomarker disease BEFREE Of six normal tissues, MG50 was found only in a specimen of normal skin and was absent from a congenital nevus. 11103812 2000
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		0.010 Biomarker disease BEFREE Thus, we conclude that VPO1 is a crucial regulator of cardiac fibrosis after MI by mediating HOCl/Smad2/3 and ERK1/2 signaling pathways, implying a promising therapeutic target in ischemic cardiomyopathy. 30844643 2019
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		0.010 Biomarker disease BEFREE Overall, the data suggest that PXDN promotes progression of prostate cancer by regulating the metabolome, more specifically, by inhibiting oxidative stress leading to decreased apoptosis. 31234468 2019
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		0.010 GeneticVariation disease BEFREE We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c.1192delT, predicting p.(Tyr398Thrfs*40) and a paternally inherited, missense substitution that was predicted to be deleterious, c.947 A>C, predicting p.(Gln316Pro). 24939590 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE PXDN was highly expressed in OC tissues and cells. 29661721 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018