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

N. diseases: 292; N. variants: 15
Source: BEFREE ×
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 18 2 0.770 None 1.000 7 2011 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 2428 247 0.700 None 0.961 118 7 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 0.610 None 1.000 1 2010 2018
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		disease Neoplasms Neoplastic Process 263 21 0.600 None 1.000 34 2 2009 2019
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 60 6 0.580 None 0.933 8 2 2009 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 848 41 0.560 None 1.000 6 2012 2018
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma 		disease Neoplasms Neoplastic Process 23 3 0.510 None 1.000 1 1 2009 2015
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
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 6 0.450 None 1.000 5 2 2010 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1052 139 0.440 None 0.800 4 2012 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3155 160 0.400 None 0.961 76 2 2010 2020
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		disease Neoplasms Neoplastic Process 265 21 0.400 None 1.000 34 2 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 17 3 2012 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 462 19 0.400 None 1.000 16 2013 2019
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 184 10 0.400 None 1.000 14 1 2009 2019
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		disease Neoplasms Neoplastic Process 149 19 0.400 None 1.000 12 2 2010 2019
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		disease Neoplasms Neoplastic Process 149 19 0.400 None 1.000 12 2 2010 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 820 47 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 186 10 0.360 None 1.000 6 1 2012 2019
CUI: C1704356
Disease: Enchondroma
Enchondroma 		disease Neoplasms Neoplastic Process 34 13 0.340 None 1.000 4 2 2011 2019
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 194 9 0.340 None 1.000 4 2 2011 2017
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		disease Disease or Syndrome 4 5 0.320 None 1.000 2 2 2010 2011
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		disease Neoplasms Neoplastic Process 8 0.320 None 1.000 2 2009 2019
CUI: C0936248
Disease: Chondroma
Chondroma 		disease Neoplasms Neoplastic Process 12 0.320 None 1.000 2 2011 2016
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 32 0.310 None 1.000 1 2016 2017