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: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 24 0.010 None 1.000 1 2019 2019
CUI: C0030354
Disease: Papilloma
Papilloma 		disease Neoplasms Neoplastic Process 273 27 0.010 None 1.000 1 2015 2015
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
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: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2017 2017
CUI: C0013393
Disease: Dysostoses
Dysostoses 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2016 2016
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2018 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2012 2012
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None 1.000 1 2018 2018
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2012 2012
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: 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: 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: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2005 2005
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2007 2007
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: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2016 2016
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2012 2012
CUI: C0014474
Disease: Ependymoma
Ependymoma 		disease Neoplasms Neoplastic Process 244 8 0.010 None 1.000 1 2018 2018
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: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2018 2018