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 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: 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: 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: 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: 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: 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: 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: 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