PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
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: C4017065
Disease: Autosomal dominant keratitis
Autosomal dominant keratitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 1 0.120 None 1.000 2 1 1995 2014
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2003 2003
CUI: C0563632
Disease: Manifest-latent nystagmus
Manifest-latent nystagmus 		disease Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2003 2003
CUI: C2315667
Disease: Fetal microcephaly
Fetal microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.600 None 1.000 1 1999 1999
CUI: C3640024
Disease: Unilateral microphthalmos
Unilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 0.100 None 0
CUI: C3805349
Disease: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
ANIRIDIA, ATYPICAL 		disease Finding 1 1 0.100 None 0 1
CUI: C4017067
Disease: FOVEAL HYPOPLASIA 1 WITH CATARACT
FOVEAL HYPOPLASIA 1 WITH CATARACT 		disease Finding 1 1 0.100 None 0 1
CUI: C4017657
Disease: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES 		disease Finding 1 1 0.100 None 0 1
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4310884
Disease: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		disease Disease or Syndrome 2 4 0.600 None 1.000 5 4 1988 2006
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		disease Eye Diseases Disease or Syndrome 2 2 0.700 None 1.000 4 2 1988 2006
CUI: C1850993
Disease: Foveal Hypoplasia, Isolated
Foveal Hypoplasia, Isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		disease Anatomical Abnormality 2 1 0.010 None 1.000 1 2004 2004
CUI: C4024960
Disease: Unilateral polymicrogyria
Unilateral polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2003 2003
CUI: C4024811
Disease: Peripheral vitreous opacities
Peripheral vitreous opacities 		phenotype Finding 2 0.100 None 0
CUI: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		phenotype Finding 2 0.100 None 0
CUI: C4703595
Disease: Increased proinsulin:insulin ratio
Increased proinsulin:insulin ratio 		phenotype Finding 2 0.100 None 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.700 None 1.000 4 4 1988 2006
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 2 0.310 None 1.000 2 2003 2008
CUI: C0155118
Disease: Corneal degeneration
Corneal degeneration 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1999 1999