EFNB2, ephrin B2, 1948

N. diseases: 109; N. variants: 4
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: C0456891
Disease: Primary pulmonary hypoplasia
Primary pulmonary hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 1 0.300 None 1.000 1 2018 2018
CUI: C4547080
Disease: Unilateral lobar pulmonary agenesis
Unilateral lobar pulmonary agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 1 0.300 None 1.000 1 2018 2018
CUI: C4082952
Disease: Unilateral lung agenesis
Unilateral lung agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 2 0.300 None 1.000 1 2018 2018
CUI: C1535917
Disease: Nipah Virus Infection
Nipah Virus Infection 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2008 2008
CUI: C0265008
Disease: Aortocaval fistula
Aortocaval fistula 		disease Cardiovascular Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.020 None 1.000 2 2008 2010
CUI: C0456483
Disease: Simple Endometrial Hyperplasia
Simple Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C0265780
Disease: Congenital absence of lung
Congenital absence of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 11 0.300 None 1.000 1 2018 2018
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 12 0.010 None 1.000 1 2016 2016
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 39 134 0.010 None 1.000 1 2016 2016
CUI: C0016169
Disease: pathologic fistula
pathologic fistula 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 71 8 0.010 None 1.000 1 2017 2017
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature 		disease Acquired Abnormality 84 0.010 None 1.000 1 2019 2019
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.030 None 1.000 3 2017 2019
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.010 None 1.000 1 2010 2010
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2013 2013
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.010 None 1.000 1 2007 2007
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.300 None 1.000 1 2009 2009
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2016 2016
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 154 4 0.010 None 1.000 1 2017 2017
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 162 15 0.010 None 1.000 1 2012 2012
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2018 2018
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		disease Neoplastic Process 167 41 0.010 None 1.000 1 2005 2005
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2007 2007
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 180 45 0.010 None 1.000 1 2019 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.010 None 1.000 1 2017 2017