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.
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
disease Neoplastic Process 2 0.300 None 1.000 1 2009 2009
CUI: C1856453
Disease: Mild thrombocytopenia
Mild thrombocytopenia
phenotype Finding 1 0.300 limited 1.000 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.200 None 1.000 18 3 1993 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.200 None 1.000 16 1 1993 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.130 None 1.000 4 1 2009 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.120 None 1.000 5 2 2015 2019
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 159 15 0.100 None 1.000 36 2001 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 11 1993 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 10 2001 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 10 2015 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 10 2001 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 5 7 2018 2019
CUI: C0425782
Disease: Breast size
Breast size
phenotype Finding 16 38 0.100 None 1.000 2 3 2016 2018
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
phenotype Laboratory Procedure 29 51 0.100 None 1.000 1 1 2018 2018
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.100 None 1.000 1 1 2018 2018
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
disease Neoplastic Process 41 103 0.100 None 1.000 1 1 2018 2018
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 1 2017 2017
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.080 None 0.875 8 1993 2019
Adult Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 38 4 0.050 None 1.000 5 2001 2012
CUI: C0004610
Disease: Bacteremia
Bacteremia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.050 None 1.000 5 2008 2019
Childhood Acute Megakaryoblastic Leukemia
disease Neoplasms Neoplastic Process 45 4 0.050 None 1.000 5 2001 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 1.000 4 1 2012 2017