Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 1
go back to main search page
Accession:DOID:0111351 term browser browse the term
Definition:A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)
Synonyms:exact_synonym: D2HGA1
 primary_id: OMIM:600721
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 OMIM
ClinVar
PMID:7609436 PMID:9536098 PMID:15609246 PMID:16037974 PMID:16081310 More... NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,472,492...93,474,207 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,912,049...91,935,292
Ensembl chr 9:91,912,049...91,935,292
JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,053,650...94,162,212
Ensembl chr 9:94,053,726...94,162,212
JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,382,456...94,387,990 JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:8004109 PMID:9361298 PMID:10102421 PMID:10207904 PMID:10848620 More... NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,526,691...93,539,302
Ensembl chr 9:93,527,127...93,539,299
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048
JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,001,838...92,003,580
Ensembl chr 9:92,001,841...92,003,559
JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:91,966,441...91,988,892
JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,326,919...94,344,220
Ensembl chr 9:94,326,548...94,344,220
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,942,443...91,952,756
Ensembl chr 9:91,942,504...91,952,730
JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,834,162...93,838,838
Ensembl chr 9:93,834,144...93,838,864
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,396,920...94,402,576
Ensembl chr 9:94,396,920...94,402,576
JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,844,275...93,886,036
Ensembl chr 9:93,844,278...93,885,111
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,886,068...93,909,991
Ensembl chr 9:93,886,143...93,914,850
JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,543,128...91,549,022
Ensembl chr 9:91,547,901...91,548,818
JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,552,924...91,566,759
Ensembl chr 9:91,553,464...91,566,451
JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,765,481...91,816,152
Ensembl chr 9:91,781,285...91,816,151
JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,731,153...91,756,783
Ensembl chr 9:91,731,115...91,756,772
JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331
JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,890,269...91,910,947
Ensembl chr 9:91,890,306...91,910,941
JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,018,141...94,051,386
Ensembl chr 9:94,018,208...94,051,386
JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:93,774,087...93,834,003
Ensembl chr 9:93,774,119...93,830,694
JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,161,834...94,174,095
Ensembl chr 9:94,161,836...94,174,244
JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:94,242,581...94,282,312
Ensembl chr 9:94,242,581...94,282,306
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:28492532 NCBI chr 9:91,845,954...91,881,145
Ensembl chr 9:91,845,987...91,880,594
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        inherited metabolic disorder 4673
          Metabolic Brain Diseases, Inborn 743
            2-hydroxyglutaric aciduria 59
              D-2-hydroxyglutaric aciduria 54
                D-2-hydroxyglutaric aciduria 1 53
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            Metabolic Brain Diseases 853
              Metabolic Brain Diseases, Inborn 743
                2-hydroxyglutaric aciduria 59
                  D-2-hydroxyglutaric aciduria 54
                    D-2-hydroxyglutaric aciduria 1 53
paths to the root