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: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.400 None 1.000 10 1995 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 10 9 2009 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 7 6 2009 2018
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.050 None 1.000 5 2003 2013
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		phenotype Laboratory Procedure 90 174 0.100 None 1.000 3 4 2012 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 3 3 2018 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 3 3 2018 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		phenotype Finding 146 344 0.100 None 1.000 3 6 2011 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: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 3 4 2009 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 2004 2015
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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 4 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2016 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 2 2 2011 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 2 2 2016 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 2 2 2019 2019
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: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 3 2011 2011
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		phenotype Diagnostic Procedure 67 108 0.100 None 1.000 1 1 2011 2011
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012