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: C0344543
Disease: Aniridia type 2
Aniridia type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.010 None 1.000 1 1990 1990
CUI: C2931803
Disease: Deletion 11p13
Deletion 11p13 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C3649644
Disease: Congenital condition
Congenital condition 		disease Disease or Syndrome 3 0.010 None 1.000 1 2007 2007
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		disease Eye Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2 2012 2012
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		disease Disease or Syndrome 3 4 0.100 None 0 1
CUI: C4021084
Disease: Aplasia of optic nerve
Aplasia of optic nerve 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 87 0.100 None 1.000 32 85 1993 2018
CUI: C0431401
Disease: Gillespie syndrome
Gillespie syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 13 0.530 None 0.857 7 1988 2016
CUI: C0155300
Disease: Pseudopapilledema
Pseudopapilledema 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1832671
Disease: Dysfunction of lateral corticospinal tracts
Dysfunction of lateral corticospinal tracts 		phenotype Finding 4 0.100 None 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 4 3 0.100 None 0 1
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		disease Eye Diseases Disease or Syndrome 4 38 0.200 None 0
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 0.300 None 1.000 2 2003 2006
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease Congenital Abnormality 5 0.300 None 1.000 2 2003 2006
CUI: C0266030
Disease: Supernumerary mesiodens tooth
Supernumerary mesiodens tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2019 2019
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		phenotype Finding 5 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		phenotype Finding 5 0.100 None 0
CUI: C0235270
Disease: Keratopathy
Keratopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.060 None 1.000 6 2000 2020
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 17 0.010 None 1.000 1 2002 2002
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		disease Anatomical Abnormality 6 2 0.100 None 0
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease Disease or Syndrome 7 32 0.600 None 1.000 38 26 1988 2018
CUI: C0281328
Disease: Adult Subependymoma
Adult Subependymoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2010 2010
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 15 0.300 None 1.000 1 2003 2003
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.100 None 0