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: 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: 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: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.010 None 1.000 1 2016 2016
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.010 None 1.000 1 2008 2008
CUI: C4255043
Disease: Microphthalmos co-occurrent with congenital ocular coloboma
Microphthalmos co-occurrent with congenital ocular coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 6 0.010 None 1.000 1 2010 2010
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C4305151
Disease: Syndromic microphthalmia type 5
Syndromic microphthalmia type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
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: C3804969
Disease: Dysgnathia
Dysgnathia 		disease Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
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: 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: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2005 2005
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: C3826462
Disease: Depression in children
Depression in children 		disease Mental or Behavioral Dysfunction 8 4 0.010 None 1.000 1 2018 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2008 2008
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		disease Mental or Behavioral Dysfunction 2 3 0.310 None < 0.001 1 2007 2007
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2017 2017
CUI: C1704231
Disease: Metastatic Malignant Neoplasm to the Leptomeninges
Metastatic Malignant Neoplasm to the Leptomeninges 		disease Nervous System Diseases Neoplastic Process 25 9 0.010 None 1.000 1 2019 2019
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		disease Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 17 0.010 None 1.000 1 2018 2018
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 2018 2018
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		disease Disease or Syndrome 36 2 0.010 None 1.000 1 2016 2016
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 11 0.010 None 1.000 1 2013 2013