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 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 GeneticVariation disease CLINVAR
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: 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: 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 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: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		0.010 GeneticVariation disease BEFREE We previously reported two patients with COS who carried a microduplication disrupting the PXDN and MYT1L genes at 2p25.3. 22547139 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: 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: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.400 Biomarker disease CTD_human
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: 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