ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
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: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 27 1996 2018
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.030 None 1.000 3 2013 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 1 1 2015 2015
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2018 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 0.010 None 1.000 1 2008 2008
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2008 2008
CUI: C0432409
Disease: Trisomy 11
Trisomy 11 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 17 0.010 None 1.000 1 1998 1998
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 0.900 10 1995 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.690 strong 1.000 10 5 2015 2019
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.100 None 0.900 10 1995 2019
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.050 None 1.000 5 1995 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.050 None 1.000 5 2001 2008
CUI: C0015674
Disease: Chronic Fatigue Syndrome
Chronic Fatigue Syndrome 		disease Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 14 0.040 None 1.000 4 1998 2000
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 0.040 None 1.000 4 1998 2011
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		disease Disease or Syndrome 1 5 0.700 strong 1.000 4 5 2015 2017
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.040 None 1.000 4 1999 2017
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 1.000 3 2005 2008
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.020 None 0.500 2 1997 2001
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 168 4 0.020 None 1.000 2 2002 2015
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 43 5 0.020 None 1.000 2 2005 2005
CUI: C0745091
Disease: Hypereosinophilia
Hypereosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 39 4 0.020 None 1.000 2 2006 2012
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.010 None 1.000 1 2009 2009
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2008 2008