PXDN, peroxidasin, 7837

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