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: 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 GeneticVariation disease UNIPROT 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: 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: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		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: 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: 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
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.100 Biomarker group HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		0.100 Biomarker disease HPO
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 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 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 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: 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: 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: 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