Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3418
Gene name	Isocitrate dehydrogenase (NADP(+)) 2
Gene symbol	IDH2
Synonyms (NCBI Gene)	D2HGA2ICD-MIDHIDH-2IDHMIDPIDPMmNADP-IDH
Chromosome	15
Chromosome location	15q26.1
Summary	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913502	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913503	C>A,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs142816010	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606870	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs767061831	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519736	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1057519906	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307936	G>A	Likely-pathogenic	Coding sequence variant, missense variant

142

Show/Hide all (142)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007339	hsa-miR-183-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCR	23263745
MIRT007339	hsa-miR-183-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCR	23263745
MIRT029275	hsa-miR-26b-5p	Microarray	19088304
MIRT052706	hsa-miR-1260b	CLASH	23622248
MIRT710710	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT710709	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT710708	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT710707	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT710706	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT710705	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710704	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710703	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710702	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT710701	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710700	hsa-miR-498	HITS-CLIP	19536157
MIRT710699	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT710698	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT710710	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT710709	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT710708	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT710707	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT710706	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT710705	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710704	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710703	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710702	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT710701	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710700	hsa-miR-498	HITS-CLIP	19536157
MIRT710699	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT710698	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT007339	hsa-miR-183-5p	MicroarrayqRT-PCR	35816043
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT1059272	hsa-miR-101	CLIP-seq
MIRT1059273	hsa-miR-1184	CLIP-seq
MIRT1059274	hsa-miR-144	CLIP-seq
MIRT1059275	hsa-miR-1976	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT1059277	hsa-miR-24	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059279	hsa-miR-3140-3p	CLIP-seq
MIRT1059280	hsa-miR-3184	CLIP-seq
MIRT1059281	hsa-miR-3620	CLIP-seq
MIRT1059282	hsa-miR-3648	CLIP-seq
MIRT1059283	hsa-miR-3664-3p	CLIP-seq
MIRT1059284	hsa-miR-423-5p	CLIP-seq
MIRT1059285	hsa-miR-4261	CLIP-seq
MIRT1059286	hsa-miR-4268	CLIP-seq
MIRT1059287	hsa-miR-4418	CLIP-seq
MIRT1059288	hsa-miR-4433	CLIP-seq
MIRT1059289	hsa-miR-4448	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059291	hsa-miR-4459	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT1059293	hsa-miR-4690-3p	CLIP-seq
MIRT1059294	hsa-miR-4722-3p	CLIP-seq
MIRT1059295	hsa-miR-4749-3p	CLIP-seq
MIRT1059296	hsa-miR-4751	CLIP-seq
MIRT1059297	hsa-miR-4768-3p	CLIP-seq
MIRT1059298	hsa-miR-4789-3p	CLIP-seq
MIRT1059299	hsa-miR-509-3-5p	CLIP-seq
MIRT1059300	hsa-miR-509-5p	CLIP-seq
MIRT1059301	hsa-miR-520a-5p	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059303	hsa-miR-525-5p	CLIP-seq
MIRT1059304	hsa-miR-548ac	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059306	hsa-miR-548ae	CLIP-seq
MIRT1059307	hsa-miR-548aj	CLIP-seq
MIRT1059308	hsa-miR-548am	CLIP-seq
MIRT1059309	hsa-miR-548d-3p	CLIP-seq
MIRT1059310	hsa-miR-548x	CLIP-seq
MIRT1059311	hsa-miR-548z	CLIP-seq
MIRT1059312	hsa-miR-582-5p	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT1059272	hsa-miR-101	CLIP-seq
MIRT1059274	hsa-miR-144	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059312	hsa-miR-582-5p	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT2245990	hsa-miR-1294	CLIP-seq
MIRT2245991	hsa-miR-183	CLIP-seq
MIRT1059275	hsa-miR-1976	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT2245992	hsa-miR-2467-5p	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059280	hsa-miR-3184	CLIP-seq
MIRT2245993	hsa-miR-3188	CLIP-seq
MIRT1059281	hsa-miR-3620	CLIP-seq
MIRT2245994	hsa-miR-3975	CLIP-seq
MIRT1059284	hsa-miR-423-5p	CLIP-seq
MIRT1059285	hsa-miR-4261	CLIP-seq
MIRT1059286	hsa-miR-4268	CLIP-seq
MIRT2245995	hsa-miR-4284	CLIP-seq
MIRT2245996	hsa-miR-4316	CLIP-seq
MIRT1059289	hsa-miR-4448	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT2245997	hsa-miR-4675	CLIP-seq
MIRT2245998	hsa-miR-4677-3p	CLIP-seq
MIRT1059294	hsa-miR-4722-3p	CLIP-seq
MIRT2245999	hsa-miR-4741	CLIP-seq
MIRT1059298	hsa-miR-4789-3p	CLIP-seq
MIRT2246000	hsa-miR-485-5p	CLIP-seq
MIRT1059301	hsa-miR-520a-5p	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059303	hsa-miR-525-5p	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IBA
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IDA	23226729
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IEA
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IMP	22416140
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005777	Component	Peroxisome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	8954790
GO:0006097	Process	Glyoxylate cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006102	Process	Isocitrate metabolic process	IEA
GO:0006102	Process	Isocitrate metabolic process	ISS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006739	Process	NADP+ metabolic process	IBA
GO:0006741	Process	NADP+ biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1903976	Process	Negative regulation of glial cell migration	IEA
GO:1904465	Process	Negative regulation of matrix metallopeptidase secretion	IEA

MIM	HGNC	e!Ensembl
147650	5383	ENSG00000182054

P48735

Protein name

Isocitrate dehydrogenase [NADP], mitochondrial (IDH) (EC 1.1.1.42) (ICD-M) (IDP) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)

Protein function

Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140). {ECO:0000269|PubMed:19228619, ECO:

PDB

4JA8 , 5GIS , 5I95 , 5I96 , 5SVN , 5SVO , 6ADI , 6UJ7 , 6UJ8 , 6UJ9 , 6VFZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00180	Iso_dh	45 → 441	Isocitrate/isopropylmalate dehydrogenase	Domain

Sequence

MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRIKVAKPVVEMDGDEMTR
IIWQFIKEKLILPHVDIQLKYFDLGLPNRDQTDDQVTIDSALATQKYSVAVKCATITPDE
ARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYK
ATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVGMGMYNTDESISGFAHSCFQYAI
QKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKTDFDKNKIWYEHRLIDDMVAQVLKS
SGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQK
GRPTSTNPIASIFAWTRGLEHRGKLDGNQDLIRFAQMLEKVCVETVESGAMTKDLAGCIH
GLSNVKLNEHFLNTTDFLDTIKSNLDRALGRQ

Sequence length

452

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways Carbon metabolism 2-Oxocarboxylic acid metabolism Biosynthesis of amino acids Peroxisome Central carbon metabolism in cancer		Transcriptional activation of mitochondrial biogenesis Citric acid cycle (TCA cycle)

201

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
D-2-hydroxyglutaric aciduria 2	Likely pathogenic; Pathogenic	rs121913502, rs267606870, rs767061831	RCV000015831 RCV000015832 RCV001028040
Maffucci syndrome	Likely pathogenic	rs1057519906	RCV005251124
Neoplasm	Likely pathogenic; Pathogenic	rs121913502, rs1057519906	RCV004668733 RCV004668945
Vascular malformation	Pathogenic	rs1057519736	RCV003493324

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myocardial infarction	risk factor	rs1057519736, rs121913503, rs1057519906	RCV002254522 RCV002254523 RCV002254524 RCV002254525
Astrocytoma IDH-mutant	risk factor	rs121913503	RCV006253966
Enchondromatosis	Conflicting classifications of pathogenicity	rs118053940, rs142816010	RCV002467587 RCV002467652
IDH-mutant and 1p/19q-codeleted oligodendroglioma	risk factor	rs121913503	RCV006253967
IDH2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs118053940, rs16943901, rs1050572551, rs118101777, rs2505796833, rs369445642, rs142721369	RCV003935245 RCV003975150 RCV003926751 RCV003907688 RCV003907016 RCV003953231 RCV003942933
Lymphatic malformation	Uncertain significance	rs1465348440	RCV003445404
Teratoma	Uncertain significance	rs1023592505	RCV003221378
Uterine corpus endometrial carcinoma	Likely benign	rs766940477	RCV005934758

Show/Hide Text Mining Associations (150)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
2 Hydroxyglutaricaciduria	Associate	21889589, 23561848
Acute Chest Syndrome	Associate	39209956
Adenocarcinoma	Associate	29769567, 32333643, 34265800
Adenocarcinoma of Lung	Associate	32333643
Alpha ketoglutarate dehydrogenase deficiency	Associate	35973199
Alternating hemiplegia of childhood	Associate	31706351
Anemia Sickle Cell	Associate	39209956
Angioedemas Hereditary	Associate	35973199
Astrocytoma	Associate	19554337, 19765000, 21631627, 22217666, 22922872, 23486687, 23918605, 24149775, 24344754, 24460285, 24810474, 25783747, 28042970, 28407731, 29016996 View all (13 more)
Ataxia Telangiectasia	Associate	23687089
ATR X syndrome	Associate	27311324
Behcet Syndrome	Associate	36864496
Bile Duct Neoplasms	Associate	31122820
Biliary Tract Neoplasms	Associate	32100259
Body Weight	Associate	34616365
Brain Neoplasms	Associate	22015945, 22343896, 22397365, 22426639, 22427879, 26669865, 28260349, 29287594, 29499756
Breast Neoplasms	Associate	27913435, 29287594, 29603332, 29785016, 31599393, 31727977, 34327780
Carcinogenesis	Associate	20142433, 24622842, 25251602, 25398940, 27624942, 36293551, 37528157
Carcinoma	Associate	22057234
Carcinoma Hepatocellular	Associate	24716838, 25894340, 26646705, 27249600, 37266610
Carcinoma Intraductal Noninfiltrating	Associate	31599393, 35880695
Carcinoma Large Cell	Associate	31186531, 34265800
Carcinoma Neuroendocrine	Associate	31186531, 38369189
Carcinoma Non Small Cell Lung	Associate	29465809, 32333643
Carcinoma Papillary	Associate	27913435, 29785016
Carcinoma Renal Cell	Associate	33165095, 33455080, 36040304
Carcinoma Squamous Cell	Associate	35996504, 36780540
Cardiomyopathy Dilated	Stimulate	32948843
Cardiovascular Diseases	Associate	32948843
Carotid Body Tumor	Associate	34616365
Cartilage Diseases	Associate	22057234, 28860121
Central Nervous System Neoplasms	Associate	30170631, 32748499, 37118755
Central Nervous System Vascular Malformations	Associate	36480544
Cerebrospinal Fluid Rhinorrhea	Associate	30675060
Cholangiocarcinoma	Associate	22180306, 22824796, 24185509, 24406866, 24478380, 24563076, 24760710, 24867389, 26245674, 27829278, 30156013, 30206411, 30615206, 31122820, 31727977 View all (8 more)
Chondroma	Associate	22057234, 22899282, 24344754, 25895133, 35660795, 36480544
Chondrosarcoma	Associate	22057234, 22824796, 23770606, 24760710, 25895133, 26368816, 28552826, 28860121, 29576625, 30206411, 31615936, 33017591, 34528398, 34994649, 35660795 View all (5 more)
Chromosome 19 trisomy 19q	Associate	34186176
Chromosome 5q Deletion Syndrome	Associate	31685963
Chromosome 8 trisomy	Associate	35549661
Colorectal Neoplasms	Associate	23071355, 28675510, 36202073
Coronary Artery Disease	Associate	32948843, 39460851
Cyclic neutropenia	Associate	32948843
Death	Associate	24458439, 31018948
Disease	Associate	22215888
Disorders of Sex Development	Associate	38507688
Enchondromatosis	Associate	22057234, 24344754, 34790172, 35042566, 36480544
Epilepsy	Associate	35972438
Erdheim Chester Disease	Associate	36754028
Esophageal Neoplasms	Inhibit	26635288
Esophageal Neoplasms	Associate	26635288
Essential Tremor	Associate	27447873
Esthesioneuroblastoma Olfactory	Associate	30332658, 34265800
Fibrosis	Associate	27991718
Gallbladder Neoplasms	Associate	31122820
Ganglioglioma	Associate	19765000, 21314850
Giant Cell Tumor of Bone	Associate	24898068
Glioblastoma	Associate	19765000, 20142433, 20431032, 22034964, 22215888, 23115158, 23307057, 23918605, 24460285, 24511544, 24868540, 25256166, 26158269, 26191234, 26264438 View all (21 more)
Glioma	Associate	19228619, 19765000, 20142433, 20431032, 20603105, 20847279, 21075857, 21289278, 21326614, 22136423, 22215888, 22238333, 22281806, 22385606, 22426639 View all (104 more)
Glioma of Brain Familial	Associate	27978414
Glycogen Storage Disease Type IV	Associate	31637414
Head and Neck Neoplasms	Associate	39684472
Heart Diseases	Associate	32948843
Hemangioma	Associate	24344754
Hematologic Neoplasms	Associate	24760710, 30510081, 30577887, 34570179
Hypoxia	Associate	22106302
Hypoxia Brain	Associate	22106302
Intellectual Disability	Associate	27218255
Keshan disease	Associate	29321553
Klatskin Tumor	Associate	31122820
Leukemia	Associate	20171147, 20368543, 21504050, 22385606, 23071355, 23996483, 25651001, 26943899, 27991718, 28653623, 28875545, 29346478, 29472349, 30013198, 32245484 View all (6 more)
Leukemia Biphenotypic Acute	Associate	34695176
Leukemia Erythroblastic Acute	Associate	25398940, 29184081, 32245484
Leukemia Megakaryoblastic Acute	Associate	22122069
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	21346257, 34922009
Leukemia Myeloid	Associate	21080253, 22162831, 22824796, 27575502
Leukemia Myeloid Acute	Associate	20142433, 20171147, 20368543, 20421455, 20494930, 20538800, 20678218, 21130701, 21173122, 21504050, 21596848, 21596855, 21647154, 21881046, 21889610 View all (130 more)
Leukemia Myelomonocytic Chronic	Associate	21828135
Leukemia Promyelocytic Acute	Associate	22397365, 29274134, 36815747
Leukemia T Cell	Associate	22343896, 25895133, 34905094
Liposarcoma	Associate	37747813
Lung Neoplasms	Associate	29465809
Lymphoma	Associate	33735913
Lymphoma Large B Cell Diffuse	Associate	29895903
Lymphoma Non Hodgkin	Associate	21829728, 23408861, 25674227, 35604410
Lymphoma T Cell	Associate	22215888, 24413734, 26268241, 28148900, 28157189, 29052597, 29981867, 30782609, 32945366, 33017591, 33739791, 36536430
Lymphoma T Cell Peripheral	Associate	26268241, 30782609, 30829413, 31488561, 33017591, 36093687
Malignant Teratocarcinosarcoma	Associate	34265800
Mast Cell Activation Disorders	Associate	27310990
Mastocytosis Systemic	Associate	28424161
Medulloblastoma	Associate	36941703, 40627836
Melanoma	Associate	20603105, 22980977, 28806730
Mixed Tumor Malignant	Associate	24877111, 34588213
Mouth Neoplasms	Associate	22385606
Multiple Myeloma	Associate	29884741
Muscular Dystrophies	Associate	32948843
Myelodysplastic Myeloproliferative Diseases	Associate	21346257
Myelodysplastic Syndromes	Associate	20678218, 23996483, 24115220, 25836588, 26331834, 26486081, 27992414, 28687222, 29472349, 29549529, 29618722, 30222780, 31208955, 31804030, 33275703 View all (6 more)
Nasopharyngeal Carcinoma	Associate	28581676
Necrosis	Associate	31599393, 34265800
Neoplasm Metastasis	Stimulate	31186531
Neoplasm Metastasis	Associate	31615936, 36780540
Neoplasms	Associate	19228619, 19554337, 19765000, 20421455, 20508616, 20603105, 21075857, 21289278, 22057234, 22162831, 22166000, 22217666, 22281806, 22385606, 22426639 View all (103 more)
Neoplasms	Stimulate	22535206
Neoplasms	Inhibit	24716838, 26635288
Neoplasms Germ Cell and Embryonal	Associate	24386123, 35660795
Neoplasms Neuroepithelial	Associate	26810070, 31984581, 38369189
Neoplasms Radiation Induced	Associate	34545083, 35505351
Neoplasms Squamous Cell	Associate	25115387
Neuroendocrine Tumors	Associate	36301191
Neutropenia severe chronic	Associate	34166485
Oculocutaneous albinism type 2	Associate	31984581
Olfaction Disorders	Associate	38369189
Oligodendroglioma	Associate	19554337, 19765000, 21631627, 22072542, 23071531, 23486687, 24722048, 25277207, 25694352, 27268645, 27311324, 27806376, 31727977, 31833906, 32854646, 33214617, 34020723, 34767259 View all (3 more)
Optic Nerve Glioma	Associate	36347664
Osteochondroma	Associate	35660795
Osteogenesis imperfecta type 3	Associate	25701198
Osteosarcoma	Associate	24898068
Ovarian Neoplasms	Associate	37210576
Paraganglioma	Associate	32948195, 34616365
Persistent Mullerian duct syndrome	Associate	24413734
Personality Disorders	Associate	31599393
Pneumocephalus	Associate	29895903
Polycythemia Vera	Associate	20508616, 27447873, 27991718
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	22809434
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22162831, 23687089, 24887327, 25987093, 27427385, 27470916, 27624942, 31409822, 32856987, 33941203
Primary Myelofibrosis	Associate	20508616, 21912393, 27037840, 27447873, 28351937, 29226763, 38386293
Prostatic Neoplasms	Associate	23071355, 27819678, 31068457
Pulmonary Disease Chronic Obstructive	Associate	30111857
Rufous oculocutaneous albinism	Associate	19554337, 31984581
Sarcoma	Associate	23071355, 30206411, 34994649
Seizures	Associate	22217666
Seminoma	Associate	24386123
Sick Sinus Syndrome	Associate	33963001
Sinonasal undifferentiated carcinoma	Associate	28084339, 28493366, 30206411, 31186531, 33017591, 34265800, 35307773, 38369189, 39565059
Small Cell Lung Carcinoma	Associate	37395033
Squamous Cell Carcinoma of Head and Neck	Associate	22385606
Stomach Neoplasms	Associate	34145795
Thrombocythemia Essential	Associate	20508616
Thrombocytopenia	Associate	30510081
Thyroid Cancer Papillary	Associate	29603332
Thyroid Neoplasms	Associate	21996744, 22824796, 23071355
Triple Negative Breast Neoplasms	Associate	38238853
Trisomy	Associate	31018948
Tuberculosis Multidrug Resistant	Associate	27249600
Urethral Neoplasms	Associate	36637036
Urinary Bladder Neoplasms	Associate	32952848
Usher Syndrome Type IE	Associate	34332627
Uveal melanoma	Associate	37563735
Vascular Diseases	Associate	22057234

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