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: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 1 4 0.400 strong 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 32 118 0.380 strong 1.000 0 2002 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.380 None 1.000 0 1999 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 3 104 0.350 strong 1.000 0 2002 2019
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		disease Eye Diseases Disease or Syndrome 4 6 0.300 limited 0
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: 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 3 11 0.800 limited 0.933 1 2 1988 2017
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.530 None 1.000 1 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 447 6 0.500 None 1.000 1 1989 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 37 13 0.460 None 1.000 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 2 13 0.400 None 1.000 1 2003 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 300 14 0.330 None 1.000 1 2006 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.330 None 1.000 1 1999 2020
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 616 281 0.310 None 1.000 1 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 1 0.310 None 1.000 1 2003 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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: 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: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 24 0.300 None 1.000 1 2018 2018
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 4 15 0.300 None 1.000 1 2003 2003
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: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2008 2008
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2018 2018
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 293 110 0.300 None 1.000 1 2006 2006