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.
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: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.020 None 1.000 2 2007 2013
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 2014 2014
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis 		disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.010 None 1.000 1 2013 2013
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 22 0.010 None 1.000 1 2012 2012
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 46 9 0.010 None 1.000 1 2007 2007
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		disease Eye Diseases Disease or Syndrome 6 10 0.010 None 1.000 1 2001 2001
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
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: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 0.010 None 1.000 1 2003 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2006 2006
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 0.010 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: 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: C3887531
Disease: Keratoglobus
Keratoglobus 		disease Anatomical Abnormality 9 0.010 None 1.000 1 2007 2007
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2007 2007
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2010 2010
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.010 None 1.000 1 2007 2007
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None < 0.001 1 2010 2010
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2003 2003
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: C0474444
Disease: Corneal stromal edema
Corneal stromal edema 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Finding 2 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: C0155118
Disease: Corneal degeneration
Corneal degeneration 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0