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: C0259782
Disease: Telangiectatic osteosarcoma
Telangiectatic osteosarcoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2015 2015
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: C4289981
Disease: Anaplastic Astrocytoma, IDH-Mutant
Anaplastic Astrocytoma, IDH-Mutant 		disease Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2016 2018
CUI: C4288558
Disease: Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted
Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4289691
Disease: Diffuse Astrocytoma, IDH-Wildtype
Diffuse Astrocytoma, IDH-Wildtype 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C4329735
Disease: Diffuse leptomeningeal glioneuronal neoplasm
Diffuse leptomeningeal glioneuronal neoplasm 		disease Neoplastic Process 3 0.010 None 1.000 1 2019 2019
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
Rosette-forming glioneuronal neoplasm 		disease Neoplastic Process 3 2 0.010 None 1.000 1 2011 2011
CUI: C1384590
Disease: Hemangiomatosis
Hemangiomatosis 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 3 1 0.100 None 0
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: C0151295
Disease: Mononeuritis Multiplex
Mononeuritis Multiplex 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 1998 1998
CUI: C1833429
Disease: D-2-hydroxyglutaric aciduria
D-2-hydroxyglutaric aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 6 0.040 None 1.000 4 2 2010 2013
CUI: C1333292
Disease: Diffuse infiltrative lymphocytosis syndrome
Diffuse infiltrative lymphocytosis syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 1998 1998
CUI: C4289980
Disease: Anaplastic Astrocytoma, IDH-Wildtype
Anaplastic Astrocytoma, IDH-Wildtype 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2020 2020
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 14 0.450 None 1.000 6 2 2010 2016
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype Finding 6 14 0.300 None 1.000 2 2 2009 2015
CUI: C0205789
Disease: Hemangioma, Intramuscular
Hemangioma, Intramuscular 		disease Neoplasms Neoplastic Process 6 0.300 None 1.000 1 2011 2011
CUI: C0476147
Disease: Chondrogenic Neoplasm
Chondrogenic Neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Neoplastic Process 6 0.010 None 1.000 1 2016 2016
CUI: C0795796
Disease: Chromosome 1, monosomy 1p
Chromosome 1, monosomy 1p 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma 		disease Neoplasms Neoplastic Process 7 4 0.310 None 1.000 6 1 2009 2014
CUI: C0344461
Disease: Oligodendroblastoma
Oligodendroblastoma 		disease Neoplasms Neoplastic Process 7 0.300 None 1.000 1 2010 2010
CUI: C0751395
Disease: Mixed Oligodendroglioma-Ependymoma
Mixed Oligodendroglioma-Ependymoma 		disease Neoplasms Neoplastic Process 7 0.300 None 1.000 1 2010 2010
CUI: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		disease Neoplastic Process 7 4 0.010 None 1.000 1 1 2014 2014
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.650 None 1.000 5 2011 2016
CUI: C4289690
Disease: Diffuse Glioma
Diffuse Glioma 		disease Neoplasms Neoplastic Process 9 7 0.100 None 1.000 11 1 2014 2020
CUI: C0279698
Disease: Squamous cell carcinoma of nasopharynx
Squamous cell carcinoma of nasopharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 9 0.010 None 1.000 1 2017 2017