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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.800 1.000 27 1 2002 2017
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency
disease Disease or Syndrome 3 9 0.760 1.000 13 9 1989 2014
CUI: C3279664
Disease: Emberger syndrome
Emberger syndrome
disease Disease or Syndrome 2 5 0.750 1.000 7 5 2010 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.700 1.000 20 2 1994 2016
CUI: C0024236
Disease: Lymphedema
Lymphedema
disease Hemic and Lymphatic Diseases Disease or Syndrome 49 1 0.440 1.000 5 2011 2015
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 93 1 0.350 1.000 5 2012 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.330 strong 0.667 5 1 2009 2017
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
disease Hemic and Lymphatic Diseases Disease or Syndrome 37 11 0.330 1.000 3 2011 2017
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1
disease Neoplasms Neoplastic Process 115 0.310 1.000 3 2011 2015
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
disease Hemic and Lymphatic Diseases Pathologic Function 36 0.300 3 2011 2017
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2)
disease Neoplasms Neoplastic Process 120 5 0.300 2 2011 2011
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 2 0.300 1 2011 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2011 2011
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 120 37 0.300 1 2016 2016
CUI: C0024228
Disease: Lymphatic Diseases
Lymphatic Diseases
group Hemic and Lymphatic Diseases Disease or Syndrome 38 0.300 strong 1 2011 2011
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases
group Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.300 1 2011 2011
CUI: C0085700
Disease: Chondromalacia
Chondromalacia
disease Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.300 1 2011 2011
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.130 1.000 3 2013 2014
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.110 1.000 1 2009 2009
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.110 1.000 1 2011 2011
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
phenotype Finding 5 9 0.100 6 4 2010 2015
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 92 2 0.100 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 340 34 0.100 0
CUI: C0580316
Disease: Neutrophil count abnormal
Neutrophil count abnormal
phenotype Finding 1 0.100 0