FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Anterior segment mesenchymal dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.520 AlteredExpression disease BEFREE FOXE3 is a lens-specific transcription factor that has been associated with anterior segment ocular dysgenesis. 27218149 2016
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.520 GermlineCausalMutation disease ORPHANET A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 21150893 2011
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.520 GeneticVariation disease BEFREE An insertion of G in the coding region of the FOXE3 gene that occurred 15 nucleotides upstream of the stop codon was identified in a family with anterior segment ocular dysgenesis and cataracts. 11159941 2001
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		0.520 Biomarker disease GENOMICS_ENGLAND