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: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.200 None 1.000 19 2011 2019
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.400 None 1.000 16 2013 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.100 None 1.000 12 2010 2019
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
Glioblastoma, IDH-Mutant
disease Neoplasms Neoplastic Process 14 4 0.100 None 1.000 11 2009 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.100 None 1.000 10 2009 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: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 163 14 0.100 None 1.000 10 2009 2020
CUI: C1997217
Disease: Low grade glioma
Low grade glioma
disease Neoplasms Neoplastic Process 85 10 0.090 None 1.000 9 2010 2019
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma
disease Neoplasms Neoplastic Process 32 0.320 None 1.000 8 2009 2019
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.770 None 1.000 8 2011 2019
Cytogenetically normal acute myeloid leukemia
disease Neoplasms Neoplastic Process 91 9 0.070 None 1.000 7 2010 2015
Primary cholangiocarcinoma of intrahepatic biliary tract
disease Neoplasms Neoplastic Process 274 10 0.070 None 1.000 7 2013 2019
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.070 None 1.000 7 2009 2018
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.560 None 1.000 7 2012 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.070 None 1.000 7 2010 2019
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma
disease Neoplasms Neoplastic Process 45 0.310 None 1.000 7 2009 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.160 None 1.000 6 2015 2020
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma
disease Neoplasms Neoplastic Process 29 0.300 None 1.000 6 2009 2014
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.060 None 0.833 6 2013 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.060 None 1.000 6 2012 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.060 None 0.833 6 2010 2017
CUI: C4722099
Disease: High grade glioma
High grade glioma
disease Neoplasms Neoplastic Process 190 15 0.050 None 1.000 5 2017 2019
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: C1332200
Disease: Adult Diffuse Astrocytoma
Adult Diffuse Astrocytoma
disease Neoplasms Neoplastic Process 21 2 0.050 None 1.000 5 2015 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.050 None 1.000 5 2010 2019