MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.030 None 1.000 3 2011 2013
CUI: C4225221
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		disease Disease or Syndrome 1 3 0.600 strong 1.000 3 3 2015 2018
CUI: C0002894
Disease: Refractory anaemia with excess blasts
Refractory anaemia with excess blasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 49 2 0.020 None 1.000 2 1994 1995
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.020 None 1.000 2 2007 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.020 None 1.000 2 1995 2012
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		disease Neoplasms Neoplastic Process 159 15 0.020 None 1.000 2 2008 2018
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.200 None 1.000 2 2006 2010
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.020 None 1.000 2 1997 1999
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 3 0.120 None 1.000 2 2012 2016
CUI: C0279632
Disease: Adult Acute Megakaryoblastic Leukemia
Adult Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 38 4 0.020 None 1.000 2 2008 2018
CUI: C0279650
Disease: Childhood Acute Megakaryoblastic Leukemia
Childhood Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 45 4 0.020 None 1.000 2 2008 2018
CUI: C0280028
Disease: Refractory anemia with excess blasts in transformation (clinical)
Refractory anemia with excess blasts in transformation (clinical) 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 0.020 None 1.000 2 1994 1999
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 8 0.020 None 1.000 2 2008 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.020 None 1.000 2 1997 1997
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.020 None 1.000 2 1990 1996
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.020 None 1.000 2 1 1997 2018
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 0.020 None 1.000 2 2012 2015
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.020 None 1.000 2 1996 1999
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.020 None 1.000 2 1995 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2015 2016
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 9 0.020 None 0.500 2 2012 2012
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.020 None 1.000 2 2017 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 2009 2009
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.010 None 1.000 1 1994 1994