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: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		disease Eye Diseases Disease or Syndrome 7 6 0.300 limited 0
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease Eye Diseases Disease or Syndrome 8 2 0.110 None 1.000 1 2014 2014
CUI: C1707516
Disease: Corneal Sensitivity
Corneal Sensitivity 		phenotype Sign or Symptom 8 0.010 None 1.000 1 2020 2020
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 8 0.300 None 0
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 0.030 None 1.000 3 1994 2004
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		disease Eye Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2017 2017
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 10 0.020 None 1.000 2 2006 2013
CUI: C0524730
Disease: Odontome
Odontome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 2 1995 1997
CUI: C1112768
Disease: Anterior subcapsular cataract
Anterior subcapsular cataract 		disease Disease or Syndrome 10 0.010 None 1.000 1 2004 2004
CUI: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 11 0.300 None 1.000 2 2003 2006
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		phenotype Finding 11 0.100 None 0
CUI: C0265541
Disease: Cranioschisis
Cranioschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2009 2009
CUI: C1557335
Disease: Ocular surface disease
Ocular surface disease 		disease Disease or Syndrome 12 0.010 None 1.000 1 2014 2014
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		phenotype Finding 12 0.100 None 0
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 13 11 0.800 limited 0.933 15 2 1988 2017
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2010 2010
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 4 0.010 None 1.000 1 2013 2013
CUI: C0278184
Disease: Scanning speech
Scanning speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C1271219
Disease: Congenital ectopic pupil
Congenital ectopic pupil 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Congenital Abnormality 14 0.010 None 1.000 1 1999 1999
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		disease Eye Diseases Congenital Abnormality 14 7 0.010 None 1.000 1 2016 2016
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 15 5 0.140 None 1.000 4 1 1999 2019
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.010 None 1.000 1 2008 2008
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		disease Eye Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2017 2017
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		disease Eye Diseases Anatomical Abnormality 16 3 0.010 None 1.000 1 2010 2010