PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Source: CURATED ×
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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 37 13 0.460 None 1.000 1 2000 2018
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 10 2 0.300 None 1.000 2 1995 1997
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 6 20 1.000 None 0.984 25 20 1978 2020
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 12 0.750 None 0.875 3 3 1988 2020
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 7 1.000 strong 0.938 3 1983 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 0.300 None 1.000 3 1995 1997
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 0.310 None 1.000 2 2003 2012
CUI: C0344516
Disease: Coloboma of lens
Coloboma of lens
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 0.300 None 1.000 2 2003 2006
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: C1852767
Disease: Hereditary macular coloboma
Hereditary macular coloboma
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: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 2 0.320 strong 1.000 1 1995 2015
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 0.300 None 1.000 1 2009 2009
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 3 0.300 None 1.000 1 2009 2009
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 7 0.300 None 0
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5
disease Disease or Syndrome 4 32 0.600 None 1.000 6 26 1988 2018
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 13 0.710 None 1.000 5 4 1988 2019
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1
disease Disease or Syndrome 1 4 0.600 None 1.000 5 4 1988 2006
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 2 13 0.530 None 0.857 4 1988 2016
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 4 4 1988 2006
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary
disease Eye Diseases Disease or Syndrome 1 2 0.700 None 1.000 4 2 1988 2006
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.300 None 1.000 2 2003 2006
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 221 1232 0.310 None 1.000 1 2005 2014
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2003 2003
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