FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0152422
Disease: Congenital aphakia
Congenital aphakia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 0.110 None 1.000 1 2018 2018
CUI: C1388201
Disease: Ascending aortic rupture
Ascending aortic rupture 		disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C2751822
Disease: Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive Congenital 3 		disease Eye Diseases Disease or Syndrome 1 2 0.500 None 1.000 1 2 2016 2016
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		phenotype Finding 1 2 0.700 strong 1.000 1 2 2016 2016
CUI: C1853234
Disease: Anterior segment of eye aplasia
Anterior segment of eye aplasia 		phenotype Finding 1 0.100 None 0
CUI: C0948993
Disease: Congenital eye disorders (excl glaucoma)
Congenital eye disorders (excl glaucoma) 		disease Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C4024759
Disease: Macular hypopigmentation
Macular hypopigmentation 		phenotype Finding 2 0.100 None 0
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.500 None 1.000 3 1986 2014
CUI: C0003534
Disease: Aphakia
Aphakia 		disease Eye Diseases Anatomical Abnormality 5 3 0.040 None 0.750 4 1 2010 2018
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		phenotype Finding 5 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		phenotype Finding 5 0.100 None 0
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.100 None 0
CUI: C1849412
Disease: Macular hypoplasia
Macular hypoplasia 		phenotype Finding 7 0.100 None 0
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 0.020 None 1.000 2 2001 2010
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 2 0.520 strong 1.000 3 2001 2016
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		disease Eye Diseases Congenital Abnormality 14 7 0.740 None 1.000 10 5 1986 2016
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0
CUI: C1388233
Disease: Aneurysm of descending thoracic aorta
Aneurysm of descending thoracic aorta 		phenotype Cardiovascular Diseases Anatomical Abnormality 15 0.100 None 0
CUI: C4022878
Disease: Descending aortic dissection
Descending aortic dissection 		disease Cardiovascular Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0013405
Disease: Dyspnea, Paroxysmal
Dyspnea, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		disease Cardiovascular Diseases Congenital Abnormality 16 19 0.100 None 0 3
CUI: C1851712
Disease: Dural ectasia
Dural ectasia 		phenotype Finding 16 1 0.100 None 0
CUI: C4476554
Disease: Carotid artery dilatation
Carotid artery dilatation 		phenotype Anatomical Abnormality 16 0.100 None 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.100 None 0