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: C4024948
Disease: Anterior encephalocele
Anterior encephalocele 		disease Congenital Abnormality 3 5 0.100 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 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: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		phenotype Finding 11 1 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C3554568
Disease: Young adult onset
Young adult onset 		phenotype Finding 8 0.100 None 0
CUI: C4023332
Disease: Abnormal corneal endothelium morphology
Abnormal corneal endothelium morphology 		disease Anatomical Abnormality 1 0.100 None 0
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: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.010 None 1.000 1 1981 1981
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1993 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 1993 1993
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None 1.000 1 1993 1993
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.100 None 0.941 17 1996 2019
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 358 171 0.010 None 1.000 1 1996 1996
CUI: C0220769
Disease: FG syndrome
FG syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 19 12 0.010 None 1.000 1 1998 1998
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 39 0.020 None 1.000 2 1999 2012
CUI: C0085568
Disease: Buruli Ulcer
Buruli Ulcer 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2000 2000
CUI: C0920652
Disease: skin irritant
skin irritant 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2001 2001
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: C1835677
Disease: Keratoconus 1
Keratoconus 1 		disease Eye Diseases Disease or Syndrome 2 28 0.700 None 1.000 7 8 2002 2011
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.030 None 1.000 3 2002 2010
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