PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777572
rs587777572
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C3151617
Disease:
ANTERIOR SEGMENT DYSGENESIS 7 		0.800 GeneticVariation UNIPROT Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 21907015 2011
dbSNP: rs587777572
rs587777572
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C3151617
Disease:
ANTERIOR SEGMENT DYSGENESIS 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs73178769
rs73178769
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34008669
rs34008669
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1558489563
rs1558489563
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C1862839
Disease:
Anterior segment mesenchymal dysgenesis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs369535598
rs369535598
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C3151617
Disease:
ANTERIOR SEGMENT DYSGENESIS 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs558163499
rs558163499
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C3151617
Disease:
ANTERIOR SEGMENT DYSGENESIS 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777573
rs587777573
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C3151617
Disease:
ANTERIOR SEGMENT DYSGENESIS 7 		T 0.700 CausalMutation CLINVAR
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
dbSNP: rs1410349925
rs1410349925
Entrez Id: 7837
Gene Symbol: PXDN
PXDN
CUI: C2981140
Disease:
Glaucoma of childhood 		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