OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
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: C0154823
Disease: Retinal defect
Retinal defect 		phenotype Eye Diseases Anatomical Abnormality 13 0.010 None 1.000 1 2017 2017
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.500 None 1.000 12 2003 2020
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.670 strong 0.875 8 4 2003 2020
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 0.360 None 1.000 6 1999 2016
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.030 None 1.000 3 2012 2015
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 94 32 0.030 None 1.000 3 2013 2014
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 7 0.030 None 0.667 3 2007 2014
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 24 0.020 None 1.000 2 2007 2015
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases 		group Eye Diseases Disease or Syndrome 47 0.010 None 1.000 1 2007 2007
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2016 2016
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections 		group Infections Disease or Syndrome 88 0.010 None 1.000 1 2017 2017
CUI: C0149893
Disease: Secondary glaucoma
Secondary glaucoma 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 201 33 0.010 None 1.000 1 2018 2018
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 1.000 1 1 2017 2017
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2007 2007
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2017 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 1.000 1 1 2017 2017
CUI: C1857800
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2012 2012
CUI: C3554462
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 		disease Disease or Syndrome 2 3 0.100 None 1.000 1 3 2017 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 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: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 3 0.100 None 0
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.100 None 0
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019