FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Aphakia, congenital primary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease GENOMICS_ENGLAND FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. 27218149 2016
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease UNIPROT Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. 25504734 2015
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease GENOMICS_ENGLAND A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. 21150893 2011
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease BEFREE A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. 20361012 2010
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease UNIPROT FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. 19708017 2009
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease BEFREE FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. 19708017 2009
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease BEFREE The recent identification of a mutation in Foxe3 that causes congenital primary aphakia in humans marks an important milestone. 17344231 2007
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease UNIPROT Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 16826526 2006
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GermlineCausalMutation disease ORPHANET Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 16826526 2006
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease BEFREE Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. 16826526 2006
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease UNIPROT Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. 11980846 2002
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease UNIPROT Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. 11159941 2001
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease GENOMICS_ENGLAND Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene. 3550563 1986
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 GeneticVariation disease CLINVAR
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 CausalMutation disease CLINVAR
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease CTD_human
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		0.740 Biomarker disease GENOMICS_ENGLAND