FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
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
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype GENOMICS_ENGLAND FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927 2016
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.700 GeneticVariation phenotype UNIPROT FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927 2016
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.700 SusceptibilityMutation phenotype CLINVAR
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.700 Biomarker phenotype CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GermlineCausalMutation disease ORPHANET FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease GENOMICS_ENGLAND
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