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: 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: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.200 None 1.000 16 2007 2019
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.200 None 1.000 15 1 2005 2018
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: 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: 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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.030 None 1.000 3 2009 2017
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: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.030 None 1.000 3 1 2005 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 3 1 2008 2013
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.030 None 1.000 3 2008 2016
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: 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: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.020 None 1.000 2 2015 2015
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.020 None 1.000 2 2016 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.020 None 1.000 2 2005 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 0.500 2 1 2007 2017
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 199 24 0.020 None 1.000 2 2017 2018
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: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.310 None 1.000 2 2009 2012
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.020 None 1.000 2 2017 2019
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.020 None 1.000 2 2015 2015