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: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 16 0.700 strong 1.000 10 16 1997 2014
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		disease Disease or Syndrome 1 2 0.600 strong 1.000 4 2 2008 2015
CUI: C3804969
Disease: Dysgnathia
Dysgnathia 		disease Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
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: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		disease Mental or Behavioral Dysfunction 2 3 0.310 None < 0.001 1 2007 2007
CUI: C0266677
Disease: Synotus
Synotus 		disease Congenital Abnormality 2 0.100 None 0
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: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 3 0.310 None 1.000 1 2012 2012
CUI: C0265242
Disease: Otocephaly
Otocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 2 0.330 None 1.000 3 2012 2015
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 4 3 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: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		disease Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2012 2012
CUI: C4020963
Disease: Absent nares
Absent nares 		phenotype Finding 4 0.100 None 0
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: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 19 0.010 None 1.000 1 2011 2011
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 6 24 0.300 None 1.000 1 2008 2008
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 7 2 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: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2014 2014
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: C3826462
Disease: Depression in children
Depression in children 		disease Mental or Behavioral Dysfunction 8 4 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: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		phenotype Finding 8 0.100 None 0