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: 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: C1854273
Disease: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.510 moderate 1.000 1 2015 2015
CUI: C1275661
Disease: Acute myeloid leukemia with recurrent genetic abnormality
Acute myeloid leukemia with recurrent genetic abnormality 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2020 2020
CUI: C4744720
Disease: High Risk Acute Myeloid Leukemia
High Risk Acute Myeloid Leukemia 		disease Neoplastic Process 6 0.010 None 1.000 1 2008 2008
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement 		phenotype Laboratory Procedure 7 22 0.100 None 1.000 1 1 2010 2010
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.110 None 1.000 1 2018 2018
CUI: C1292775
Disease: Acute myeloid leukemia, 11q23 abnormalities
Acute myeloid leukemia, 11q23 abnormalities 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 7 25 0.010 None 1.000 1 2018 2018
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		phenotype Finding 7 3 0.100 None 0
CUI: C0334674
Disease: Acute panmyelosis with myelofibrosis
Acute panmyelosis with myelofibrosis 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2012 2012
CUI: C1320638
Disease: Bone marrow myeloid dysplasia
Bone marrow myeloid dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 9 0.010 None 1.000 1 2009 2009
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 18 0.010 None 1.000 1 2017 2017
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: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 1998 1998
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2018 2018
CUI: C4725024
Disease: Refractory Leukemia
Refractory Leukemia 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic 		disease Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2013 2013
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: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease Male Urogenital Diseases Congenital Abnormality 21 5 0.100 None 0
CUI: C2825139
Disease: Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Acute Myeloid Leukemia with Myelodysplasia-Related Changes 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2012 2012
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.100 None 0
CUI: C0497550
Disease: Benign neurologic neoplasms
Benign neurologic neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 29 2 0.010 None 1.000 1 2010 2010
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2018 2018
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		phenotype Diagnostic Procedure 35 81 0.100 None 1.000 3 4 2009 2018
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2013 2013