CHST6, carbohydrate sulfotransferase 6, 4166

N. diseases: 16; N. variants: 44
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: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.800 strong 0.917 36 42 2000 2019
CUI: C0024439
Disease: Macular corneal dystrophy
Macular corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 2 0.600 strong 1.000 29 2 2000 2019
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.130 None 1.000 3 2 2007 2014
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 34 33 0.100 None 1.000 1 1 2017 2017
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4021565
Disease: Punctate opacification of the cornea
Punctate opacification of the cornea 		phenotype Finding 3 0.100 None 0
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 9 5 0.100 None 0
CUI: C1691013
Disease: Macular corneal dystrophy Type II (disorder)
Macular corneal dystrophy Type II (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C1096610
Disease: Corneal crystalline deposits
Corneal crystalline deposits 		phenotype Pathologic Function 2 0.100 None 0
CUI: C1096274
Disease: Corneal thinning
Corneal thinning 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0271292
Disease: Corneal hypoesthesia
Corneal hypoesthesia 		disease Eye Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0151827
Disease: Eye pain
Eye pain 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 10 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2011 2011