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 CausalMutation disease CLINVAR
Anterior segment mesenchymal dysgenesis
0.400 Biomarker disease CTD_human
Anterior segment mesenchymal dysgenesis
0.400 GeneticVariation disease CLINVAR
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 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: 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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE PXDN is also involved in processes where epithelial-mesenchymal transition (EMT) takes place, namely fibrosis, development and cancer. 29305973 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE PXDN might play a promoter role in the proliferation, invasion and migration of OC cells through regulating the activation of PI3K/Akt pathway. 29661721 2018
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: 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: 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: 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: 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 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: 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: 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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Cripto-1 may also control cellular motility and invasion by activating Src (Tyr418), FAK (Tyr396) and PXN (Tyr118) of the FA pathway. 31452820 2019
CUI: C0876973
Disease: Infectious Lung Disorder
Infectious Lung Disorder
0.010 Biomarker group BEFREE Deficiency of PXDN results in a failure to eradicate Pseudomonas aeruginosa and increased mortality in a murine model of Pseudomonas lung infection. 29775486 2018
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