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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 chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061 		JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789 		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 chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322 		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 NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124 		JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312 		JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934 		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 chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314 		JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783 		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 chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177 		JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757 		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 chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		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 chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		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 chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315 		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 chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875 		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 chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		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 chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073 		JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,440,049...133,440,138 JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339 		JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172 		JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765 		JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781 		JBrowse link
G Rhcg Rh family, C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775 		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 chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		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 chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630 		JBrowse link
G Zfp710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6257
          Metabolic Brain Diseases, Inborn 1357
            2-hydroxyglutaric aciduria 93
              D-2-hydroxyglutaric aciduria 88
                D-2-hydroxyglutaric aciduria 2 36
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            Metabolic Brain Diseases 1489
              Metabolic Brain Diseases, Inborn 1357
                2-hydroxyglutaric aciduria 93
                  D-2-hydroxyglutaric aciduria 88
                    D-2-hydroxyglutaric aciduria 2 36
paths to the root