KRT12, keratin 12, 3859

N. diseases: 18; N. variants: 15
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.
Punctate opacification of the cornea
phenotype Finding 3 0.100 None 0
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 0.010 None 1.000 1 2017 2017
Corneal Dystrophy, Juvenile Epithelial of Meesmann
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 18 0.700 strong 1.000 23 15 1996 2019
CUI: C1513269
Disease: Microcysts
Microcysts
disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality 12 2 0.010 None 1.000 1 1997 1997
CUI: C3839460
Disease: Nonprogressive
Nonprogressive
phenotype Finding 24 0.100 None 0
CUI: C0152227
Disease: Excessive tearing
Excessive tearing
disease Eye Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases
group Eye Diseases Disease or Syndrome 47 0.010 None 1.000 1 2006 2006
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2018 2018
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 0.050 None 1.000 5 6 1997 2005
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.110 None 1.000 1 2010 2010
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
Pterygium Of Conjunctiva And Cornea
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2009 2009
CUI: C4520843
Disease: Pterygium of eye
Pterygium of eye
disease Eye Diseases Disease or Syndrome 169 4 0.010 None 1.000 1 2009 2009
CUI: C0033999
Disease: Pterygium
Pterygium
disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2009 2009
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 2 1 1997 2008
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2017 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019