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: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2018 2018
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: 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: 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: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0.300 None 1.000 1 2005 2005
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: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		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: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0.300 None 1.000 1 2005 2005
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.530 None 1.000 1 2008 2014
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2 0.300 None 1.000 1 2008 2008
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 184 0.300 None 1.000 1 2015 2015
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 616 1 0.300 None 1.000 1 2018 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 883 1629 0.330 None 1.000 1 1999 2020
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 297 47 0.300 None 1.000 1 2006 2006
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0.300 None 1.000 1 2005 2005
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 37 13 0.460 None 1.000 1 2000 2018
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
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: 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: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 7 0.300 None 0
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: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
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: 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