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: 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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.020 None 1.000 2 1 2013 2014
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
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2017 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 3 2019 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 1.000 1 2 2011 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.100 None 1.000 1 1 2018 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2017 2017
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2018 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 1.000 1 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2018 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2018 2018
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: 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: C0740302
Disease: 5q-syndrome
5q-syndrome 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.010 None 1.000 1 2012 2012
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.010 None 1.000 1 2018 2018
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.010 None 1.000 1 2012 2012
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: 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: 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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 2007 2007
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 0.010 None 1.000 1 1998 1998
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0