VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
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: C1835677
Disease: Keratoconus 1
Keratoconus 1 		disease Eye Diseases Disease or Syndrome 2 28 0.700 None 1.000 7 8 2002 2011
CUI: C3280099
Disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 		disease Disease or Syndrome 1 1 0.700 moderate 1.000 1 1 2004 2004
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.500 None 0.871 31 12 2002 2019
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 4 0.400 None 1.000 18 3 2002 2019
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 0.360 moderate 0.857 7 2004 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.320 None 1.000 2 2004 2012
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.300 None 1.000 1 2004 2004
CUI: C0014008
Disease: Empty Sella Syndrome
Empty Sella Syndrome 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2004 2004
CUI: C0750942
Disease: Auditory Inattention
Auditory Inattention 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 0.300 None 1.000 1 2004 2004
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 6 0.300 None 1.000 1 2002 2002
CUI: C0024439
Disease: Macular corneal dystrophy
Macular corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 2 0.300 None 1.000 1 2002 2002
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.300 None 1.000 1 2002 2002
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.300 None 1.000 1 2004 2004
CUI: C0271574
Disease: Empty Sella Syndrome, Primary
Empty Sella Syndrome, Primary 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2004 2004
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 1 0.300 None 1.000 1 2002 2002
CUI: C0004310
Disease: Auditory Perceptual Disorders
Auditory Perceptual Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.300 None 1.000 1 2004 2004
CUI: C0751097
Disease: Empty Sella Syndrome, Secondary
Empty Sella Syndrome, Secondary 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2004 2004
CUI: C0018245
Disease: Groenouw's Dystrophies
Groenouw's Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2002 2002
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.100 None 0.941 17 1996 2019
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality 137 5 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0
CUI: C3554568
Disease: Young adult onset
Young adult onset 		phenotype Finding 8 0.100 None 0
CUI: C4024948
Disease: Anterior encephalocele
Anterior encephalocele 		disease Congenital Abnormality 3 5 0.100 None 0