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: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 0
CUI: C0014591
Disease: Epistaxis
Epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.010 None 1.000 1 1993 1993
CUI: C0085702
Disease: Monocytosis
Monocytosis 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 61 3 0.010 None 1.000 1 1995 1995
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 8 0.010 None < 0.001 1 1997 1997
CUI: C2854088
Disease: Acute lymphoblastic leukemia, in relapse
Acute lymphoblastic leukemia, in relapse 		disease Neoplastic Process 2 0.010 None 1.000 1 1997 1997
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 1998 1998
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: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.010 None 1.000 1 1998 1998
CUI: C0702266
Disease: Basophilia
Basophilia 		disease Disease or Syndrome 12 0.010 None 1.000 1 1999 1999
CUI: C0023439
Disease: Leukemia, Eosinophilic, Acute
Leukemia, Eosinophilic, Acute 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 1999 1999
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 1999 1999
CUI: C0279648
Disease: Childhood Acute Eosinophilic Leukemia
Childhood Acute Eosinophilic Leukemia 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 1999 1999
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 49 2 0.010 None 1.000 1 1999 1999
CUI: C0279630
Disease: Adult Acute Eosinophilic Leukemia
Adult Acute Eosinophilic Leukemia 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 1999 1999
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: C4728123
Disease: Infantile fibromatosis
Infantile fibromatosis 		disease Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 2000 2000
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 2000 2000
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2000 2000
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