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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:D-2-hydroxyglutaric aciduria 2
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Accession:DOID:0111352 term browser browse the term
Definition:A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)
Synonyms:exact_synonym: D2HGA2
 primary_id: OMIM:613657



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D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
JBrowse link
G AP3S2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,524,982...68,583,917 JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,919,377...68,923,213 JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,623,932...69,628,130 JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 More... NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IQGAP1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,470,528...68,473,209 JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,648,220...69,682,408
Ensembl chr15:88,847,116...88,852,057
JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,873,927...68,918,792
Ensembl chr15:88,076,399...88,120,729
JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870
JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502
JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,384,395...68,434,212
Ensembl chr15:87,590,676...87,639,820
JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:68,688,203...68,770,188
Ensembl chr15:87,956,415...87,971,119
JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr15:69,039,595...69,050,747
Ensembl chr15:88,241,732...88,251,483
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        inherited metabolic disorder 5518
          Metabolic Brain Diseases, Inborn 1333
            2-hydroxyglutaric aciduria 94
              D-2-hydroxyglutaric aciduria 88
                D-2-hydroxyglutaric aciduria 2 36
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        central nervous system disease 11900
          brain disease 11183
            Metabolic Brain Diseases 1469
              Metabolic Brain Diseases, Inborn 1333
                2-hydroxyglutaric aciduria 94
                  D-2-hydroxyglutaric aciduria 88
                    D-2-hydroxyglutaric aciduria 2 36
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