PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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