OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.020 None 1.000 2 2017 2018
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 19 0.400 None 1.000 2 2011 2014
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.020 None 1.000 2 2008 2016
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.020 None 1.000 2 2013 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.120 None 1.000 2 2008 2018
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.120 None 1.000 2 2010 2012
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.120 None 1.000 2 2008 2014
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		disease Eye Diseases Disease or Syndrome 136 16 0.020 None 1.000 2 2013 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2017 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.020 None 1.000 2 2017 2019
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C3826462
Disease: Depression in children
Depression in children 		disease Mental or Behavioral Dysfunction 8 4 0.010 None 1.000 1 2018 2018
CUI: C3804969
Disease: Dysgnathia
Dysgnathia 		disease Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
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 0.110 None 1.000 1 2018 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 0.110 None 1.000 1 2012 2012
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 5 0.010 None 1.000 1 2014 2014
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.010 None 1.000 1 2019 2019
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.400 strong 1.000 1 2015 2015
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2016 2016
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 5 0.010 None 1.000 1 2015 2015
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2014 2014
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2005 2005
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease Disease or Syndrome 7 0.300 None 1.000 1 2014 2014
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2012 2012