PXDN, peroxidasin, 7837

N. diseases: 51; N. variants: 8
Disease: ANTERIOR SEGMENT DYSGENESIS 7 ×
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 GermlineCausalMutation disease ORPHANET Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. 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: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 GermlineCausalMutation disease ORPHANET Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. 21907015 2011
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: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		0.700 CausalMutation disease CLINVAR