PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
Disease: Hydrophthalmos ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1410349925
rs1410349925
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C0020302
Disease:
Hydrophthalmos 		0.010 GeneticVariation 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