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
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
disease Disease or Syndrome 1 2 0.600 strong 1.000 4 2 2008 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.410 strong 1.000 1 1 2009 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.400 None 1.000 26 1999 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.400 None 1.000 25 1999 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.400 None 1.000 25 1999 2019
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: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary
phenotype Finding 16 2 0.400 strong 1.000 1 2015 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.350 None 0.800 5 1 2008 2019
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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 0.500 2 1 2007 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.320 strong 1.000 2 2008 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.310 None 1.000 2 2009 2012
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: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
disease Mental or Behavioral Dysfunction 2 3 0.310 None < 0.001 1 2007 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.310 None 1.000 1 1 2007 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.300 None 1.000 2 2011 2014
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 54 1 0.300 None 1.000 1 2009 2009
Butterfly-shaped pigmentary macular dystrophy
disease Disease or Syndrome 7 0.300 None 1.000 1 2014 2014
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome; Congenital Abnormality 46 2 0.300 None 1.000 1 2013 2013
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome 89 8 0.300 None 1.000 1 2013 2013
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
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: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.300 None 1.000 1 2002 2002
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