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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 248 212 0.300 None 1.000 1 2006 2006
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: 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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 616 1 0.300 None 1.000 1 2018 2018
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: 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
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: 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: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 24 0.300 None 1.000 1 2018 2018
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: 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