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: 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: C0279650
Disease: Childhood Acute Megakaryoblastic Leukemia
Childhood Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 45 4 0.010 None 1.000 1 2008 2008
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell 		disease Neoplasms Neoplastic Process 46 2 0.010 None 1.000 1 2004 2004
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 2 0.010 None 1.000 1 2018 2018
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: C1332153
Disease: acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome
acute myeloid leukemia with multilineage dysplasia following myelodysplastic syndrome 		disease Neoplastic Process 49 1 0.010 None 1.000 1 2012 2012
CUI: C0920028
Disease: Leukaemia recurrent
Leukaemia recurrent 		disease Neoplasms Neoplastic Process 50 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 0.040 None 1.000 4 1998 2011
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: C0023453
Disease: L2 Acute Lymphoblastic Leukemia
L2 Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 53 0.300 None 1.000 1 2007 2007
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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.010 None 1.000 1 2014 2014
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: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5 0.030 None 1.000 3 1995 2006
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		disease Neoplasms Neoplastic Process 65 0.060 None 1.000 6 2010 2018
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: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2005 2005
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2012 2012
CUI: C0279593
Disease: Adult B Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 74 0.040 None 1.000 4 2003 2013
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 76 206 0.010 None 1.000 1 2019 2019
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		disease Neoplasms Neoplastic Process 77 0.010 None 1.000 1 2019 2019
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.010 None 1.000 1 2019 2019
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: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2001 2001
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 2006 2006