IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 380; N. variants: 15
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: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.770 None 1.000 8 2011 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.700 None 0.961 129 9 2010 2019
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome
disease Musculoskeletal Diseases Disease or Syndrome 8 0.650 None 1.000 5 2011 2016
CUI: C3150909
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 2
disease Disease or Syndrome 2 2 0.610 None 1.000 5 2 2010 2018
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 282 21 0.600 None 1.000 41 2 2009 2019
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma
disease Neoplasms Neoplastic Process 66 7 0.580 None 0.933 15 2 2009 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.560 None 1.000 7 2012 2018
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma
disease Neoplasms Neoplastic Process 28 3 0.510 None 1.000 8 1 2009 2015
Combined D-2- and L-2-hydroxyglutaric aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 14 0.450 None 1.000 6 2 2010 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.440 None 0.800 5 2012 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.400 None 0.961 76 2 2010 2020
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.400 None 1.000 35 2 2009 2019
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.400 None 1.000 20 1 2009 2019
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 109 8 0.400 None 1.000 18 3 2012 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.400 None 1.000 16 2013 2019
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.400 None 1.000 13 2 2010 2019
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.400 None 1.000 13 2 2010 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.400 None 1.000 10 2010 2019
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 190 10 0.360 None 1.000 7 1 2012 2019
CUI: C1704356
Disease: Enchondroma
Enchondroma
disease Neoplasms Neoplastic Process 41 13 0.340 None 1.000 5 2 2011 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma
disease Neoplasms Neoplastic Process 256 24 0.340 None 1.000 4 2 2011 2017
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma
disease Neoplasms Neoplastic Process 32 0.320 None 1.000 8 2009 2019
CUI: C0936248
Disease: Chondroma
Chondroma
disease Neoplasms Neoplastic Process 13 0.320 None 1.000 4 2011 2016
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1
disease Disease or Syndrome 4 15 0.320 None 1.000 2 2 2010 2011
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma
disease Neoplasms Neoplastic Process 45 0.310 None 1.000 7 2009 2014