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: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 1.000 None 0.984 188 24 1978 2020
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 1.000 strong 0.938 16 1 1983 2011
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
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.750 None 0.875 8 3 1988 2020
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.710 None 1.000 6 4 1988 2019
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: 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: 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: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1
disease Disease or Syndrome 2 4 0.600 None 1.000 5 4 1988 2006
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: 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: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.530 None 1.000 5 2008 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.500 None 1.000 23 1989 2019
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.460 None 1.000 6 1 2000 2018
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.400 None 1.000 1 2003 2003
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
phenotype Finding 25 4 0.400 strong 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.380 strong 1.000 8 2002 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.380 None 1.000 8 1999 2017
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.350 strong 1.000 5 2002 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.330 None 1.000 4 2006 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.330 None 1.000 3 1999 2020
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.320 strong 1.000 3 1995 2015
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.310 None 1.000 3 2003 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.310 None 1.000 2 2010 2018
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