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: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.040 Biomarker phenotype BEFREE Our previous studies showed that VPO1 contributes to the vascular smooth muscle cell proliferation and endothelial dysfunction in spontaneous hypertensive rats (SHRs); however, the role of VPO1 in cardiomyocytes hypertrophy is still uninvestigated. 27651140 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.040 Biomarker phenotype BEFREE VPO1 plays a critical role in ADMA production via H2O2-VPO1-hypochlorous acid pathways, which may contribute to endothelial dysfunction in hypertension. 27475679 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.040 Biomarker phenotype BEFREE Our previous study demonstrated that VPO1 plays a critical role in endothelial dysfunction through dimethylarginine dimethylaminohydrolase2 (DDAH2)/asymmetric Dimethylarginine (ADMA) pathway. 28264790 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.040 Biomarker phenotype BEFREE VPO1 plays an important role in senescence of endothelial cells and endothelial dysfunction by induction of oxidative stress and inflammatory reaction in type 2 diabetic rats. 26142204 2015
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.030 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: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.030 GeneticVariation disease BEFREE Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma. 27409795 2016
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.030 GeneticVariation disease BEFREE Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. 24939590 2015
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.030 Biomarker disease BEFREE Our previous study has demonstrated that VPO1 regulates myocardial ischemic reperfusion and renal fibrosis. 30844643 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.030 Biomarker disease BEFREE Peroxidasin and eosinophil peroxidase, but not myeloperoxidase, contribute to renal fibrosis in the murine unilateral ureteral obstruction model. 30565999 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.030 AlteredExpression disease BEFREE Aberrant PXDN expression has been associated with kidney fibrosis, cancer, congenital eye defects and various cardiovascular disorders. 29953917 2018
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.030 GeneticVariation disease BEFREE Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. 24939590 2015
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.030 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: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		0.030 GeneticVariation disease BEFREE In a third family with developmental glaucoma a novel mutation (c.3496G>A; p.Gly1166Arg) was identified in the PXDN gene, which segregates with the disease. 27409795 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE PXDN is also involved in processes where epithelial-mesenchymal transition (EMT) takes place, namely fibrosis, development and cancer. 29305973 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE However, the roles of PXDN in progression of cancers are still rare. 29661721 2018
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: 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 Biomarker group BEFREE Mechanisms of oxidative stress effects of the NADPH oxidase-ROS-NF-κB transduction pathway and VPO1 on patients with chronic obstructive pulmonary disease combined with pulmonary hypertension. 28829513 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 Biomarker group BEFREE VPO1 plays a critical role in ADMA production via H2O2-VPO1-hypochlorous acid pathways, which may contribute to endothelial dysfunction in hypertension. 27475679 2016
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 Biomarker disease BEFREE We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis. 24939590 2015
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