EMX2, empty spiracles homeobox 2, 2018

N. diseases: 59; N. variants: 2
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: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10 0.010 None 1.000 1 2018 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2003 2003
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2011 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2011 2011
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 2019 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2011 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.030 None 1.000 3 2016 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		disease Neoplasms Neoplastic Process 136 5 0.010 None 1.000 1 2011 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.090 None 1.000 9 2001 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2010 2010
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.030 None 1.000 3 2016 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2017 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2007 2011
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 1997 1997
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2020 2020
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.010 None 1.000 1 2003 2003
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2007 2007
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.020 None 0.500 2 2001 2013
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.020 None 1.000 2 2004 2007
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2019 2019
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.320 None 1.000 2 1997 2005