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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 12 2005 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.050 None 1.000 5 2005 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.040 None 0.750 4 2012 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2007 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.030 None 1.000 3 2009 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.030 None 1.000 3 2008 2016
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: 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: 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: 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: 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: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 12 0.020 None 1.000 2 2008 2014
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.310 None 1.000 2 2009 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2015 2017
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 38 0.020 None 1.000 2 2017 2019
CUI: C0729353
Disease: Subfertility
Subfertility
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.020 None 1.000 2 2019 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
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.020 None 1.000 2 2013 2014
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: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.020 None 1.000 2 2015 2015