COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
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.
Corneal dystrophy, Fuchs' endothelial, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 7 0.720 strong 1.000 4 7 2001 2019
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.700 strong 1.000 1 2 2001 2001
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 94 32 0.600 None 0.938 16 6 2004 2018
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.340 None 1.000 5 2001 2019
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.150 None 1.000 5 1 2004 2016
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 1 2013 2013
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 3 2018 2018
CUI: C0155118
Disease: Corneal degeneration
Corneal degeneration
disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0155116
Disease: Descemet's membrane fold
Descemet's membrane fold
disease Eye Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C0474444
Disease: Corneal stromal edema
Corneal stromal edema
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Finding 2 0.100 None 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.100 None 0
CUI: C0271288
Disease: Corneal guttata
Corneal guttata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 1 0.100 None 0
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle
disease Eye Diseases Disease or Syndrome 383 222 0.020 None 1.000 2 1 2010 2015
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.020 None 1.000 2 1 2005 2005
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.020 None 1.000 2 2007 2013
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.010 None 1.000 1 2005 2005
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 0.010 None 1.000 1 2001 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2006 2006
Congenital hereditary endothelial dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2003 2003
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 2014 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2013 2013
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2013 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome
disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2001 2001