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: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.300 Biomarker disease CTD_human Discovery of epigenetically silenced genes in acute myeloid leukemias. 17330099 2007
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human Discovery of epigenetically silenced genes in acute myeloid leukemias. 17330099 2007
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 GermlineCausalMutation disease ORPHANET Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 24939590 2015
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 Biomarker disease GENOMICS_ENGLAND Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 24939590 2015
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 GermlineCausalMutation disease ORPHANET Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 21907015 2011
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 CausalMutation disease CLINVAR
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 GeneticVariation disease UNIPROT Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 21907015 2011
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.400 Biomarker disease CTD_human
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.400 GeneticVariation disease CLINVAR
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: 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: 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: 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: 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
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 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: 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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 Biomarker group BEFREE Previous studies have demonstrated that NADPH oxidase (NOX)/vascular peroxidase (VPO1) pathway - mediated oxidative stress plays an important role in the pathogenesis of multiple cardiovascular diseases. 31216444 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 AlteredExpression group BEFREE Aberrant PXDN expression has been associated with kidney fibrosis, cancer, congenital eye defects and various cardiovascular disorders. 29953917 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 Biomarker group BEFREE These findings point to EPX and PXDN as potential therapeutic targets for renal fibrosis and CKD and suggest that eosinophils modulate the response to renal injury. 30565999 2019
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: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 GeneticVariation disease BEFREE Here, we report homozygous mutations in peroxidasin (PXDN) in two consanguineous Pakistani families with congenital cataract-microcornea with mild to moderate corneal opacity and in a consanguineous Cambodian family with developmental glaucoma and severe corneal opacification. 21907015 2011
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 GeneticVariation disease BEFREE Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. 24939590 2015