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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.700 0.949 90 6 2010 2018
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.660 1.000 7 2012 2017
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 175 16 0.600 0.933 18 2 2009 2016
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 182 15 0.600 0.938 17 2 2009 2016
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma
disease Neoplasms Neoplastic Process 58 0.550 0.800 6 2009 2016
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 454 13 0.550 1.000 6 2012 2017
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.550 1.000 5 2012 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.520 1.000 4 1 2009 2016
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma
disease Neoplasms Neoplastic Process 26 0.510 1.000 2 2010 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.430 0.667 4 2012 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.400 1.000 25 2 2009 2018
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
disease Hemic and Lymphatic Diseases; Immune System Diseases Neoplastic Process 50 3 0.400 1.000 13 2 2012 2018
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
disease Disease or Syndrome 1 2 0.400 5 2 2010 2015
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 176 4 0.380 1.000 8 2013 2016
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.370 1.000 7 2010 2017
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 165 6 0.360 1.000 6 2009 2016
Combined D-2- and L-2-hydroxyglutaric aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 11 0.350 1.000 6 2 2010 2016
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 122 2 0.340 0.750 5 2012 2016
CUI: C0018916
Disease: Hemangioma
Hemangioma
disease Neoplasms Neoplastic Process 100 6 0.340 1.000 4 1 2012 2017
CUI: C1704356
Disease: Enchondroma
Enchondroma
disease Neoplasms Neoplastic Process 18 7 0.320 1.000 3 1 2012 2016
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1
disease Disease or Syndrome 2 7 0.320 1.000 2 2 2010 2011
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.310 strong 1.000 3 2010 2014
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1
disease Neoplasms Neoplastic Process 115 0.310 1.000 3 2011 2017
CUI: C0936248
Disease: Chondroma
Chondroma
disease Neoplasms Neoplastic Process 10 0.310 1.000 3 2011 2016
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 79 1 0.310 1.000 2 2012 2014