ETV5, ETS variant transcription factor 5, 2119

N. diseases: 121; N. variants: 11
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: C0004669
Disease: Bacteroides Infections
Bacteroides Infections 		group Infections Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		disease Eye Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0334192
Disease: Atrophic endometrium
Atrophic endometrium 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 13 0.010 None 1.000 1 2005 2005
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 16 62 0.010 None 1.000 1 2002 2002
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.010 None 1.000 1 2016 2016
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2017 2017
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		disease Eye Diseases Disease or Syndrome 34 28 0.010 None 1.000 1 2019 2019
CUI: C2986561
Disease: Spindle Cell Oncocytoma of the Adenohypophysis
Spindle Cell Oncocytoma of the Adenohypophysis 		disease Neoplasms Neoplastic Process 35 2 0.010 None 1.000 1 2012 2012
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema 		disease Eye Diseases Disease or Syndrome 36 3 0.010 None 1.000 1 2018 2018
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.010 None 1.000 1 2009 2009
CUI: C3896961
Disease: Adult Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 44 2 0.010 None 1.000 1 2015 2015
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid 		disease Eye Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2018 2018
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 51 3 0.010 None 1.000 1 2009 2009
CUI: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 3 0.010 None 1.000 1 2015 2015
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 53 0.010 None 1.000 1 2005 2005
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.010 None < 0.001 1 2019 2019
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 64 27 0.010 None 1.000 1 2009 2009
CUI: C0562350
Disease: Hip circumference
Hip circumference 		phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2015 2015
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2015 2015
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.010 None < 0.001 1 2019 2019
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2012 2012
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 1 1 2013 2013
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		disease Male Urogenital Diseases Disease or Syndrome 91 22 0.010 None 1.000 1 2012 2012
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 92 10 0.010 None 1.000 1 2018 2018