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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:2-hydroxyglutaric aciduria
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Accession:DOID:0050573 term browser browse the term
Definition:An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)
Synonyms:exact_synonym: 2-Hga;   2-hydroxyglutaricaciduria
 primary_id: MESH:C535306
 alt_id: OMIA:001371
 xref: GARD:10761;   NCI:C128187


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2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO L-2-hydroxyglutaricacidemia
DNA:mutations:exons:c.169G>A,c.542G>T(human)
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
CTD Direct Evidence: marker/mechanism
RGD
OMIA
CTD
PMID:11708646 PMID:12892272 PMID:12892307 PMID:15385440 PMID:15548604 More... RGD:13506814 RGD:13506815 RGD:13506818 NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria ClinVar PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria OMIM
ClinVar
PMID:9031613 PMID:23393310 PMID:23561848 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:710,506...720,564
Ensembl chrNW_004955542:710,005...717,741
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:910,258...943,546
Ensembl chrNW_004955542:910,251...943,389
JBrowse link
G Asb1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,243,381...2,255,747
Ensembl chrNW_004955542:2,243,381...2,255,747
JBrowse link
G Atg4b autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:164,969...192,498
Ensembl chrNW_004955542:166,365...193,006
JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:224,471...232,401
Ensembl chrNW_004955542:224,471...232,428
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:874,083...885,085
Ensembl chrNW_004955542:874,083...885,084
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,131,110...1,135,871
Ensembl chrNW_004955542:1,131,110...1,135,871
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 chrNW_004955542:99,379...130,447
Ensembl chrNW_004955542:93,226...130,444
JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:155,741...163,759
Ensembl chrNW_004955542:155,742...163,759
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:909,239...911,139
Ensembl chrNW_004955542:909,917...910,646
JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,408,504...2,415,522
Ensembl chrNW_004955542:2,409,988...2,415,522
JBrowse link
G Espnl espin like ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,430,610...2,453,738
Ensembl chrNW_004955542:2,430,712...2,453,361
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:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:279,489...395,524
Ensembl chrNW_004955542:280,008...379,166
JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:82,972...94,041
Ensembl chrNW_004955542:84,629...87,356
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 chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:947,556...968,295
Ensembl chrNW_004955542:947,556...968,295
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:851,895...856,688
Ensembl chrNW_004955542:851,895...856,688
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,629,691...1,886,160
Ensembl chrNW_004955542:1,629,691...1,886,210
JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:444,221...505,512
Ensembl chrNW_004955542:444,258...510,065
JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,373,241...2,374,827
Ensembl chrNW_004955542:2,373,370...2,374,272
JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,391,432...2,407,559
Ensembl chrNW_004955542:2,391,431...2,408,732
JBrowse link
G Ing5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:135,634...160,991
Ensembl chrNW_004955542:132,560...148,138
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:756,834...832,805
Ensembl chrNW_004955542:756,835...832,889
JBrowse link
G Klhl30 kelch like family member 30 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,418,399...2,427,571
Ensembl chrNW_004955542:2,418,324...2,428,062
JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,632,933...2,737,922
Ensembl chrNW_004955542:2,632,933...2,686,865
JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:699,717...708,760
Ensembl chrNW_004955542:701,633...709,315
JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,769,709...2,807,768
Ensembl chrNW_004955542:2,769,649...2,802,672
JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:579,183...584,617
Ensembl chrNW_004955542:579,356...584,508
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695
JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:66,214...70,456
Ensembl chrNW_004955542:66,174...71,058
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,128,036...1,129,445
Ensembl chrNW_004955542:1,128,036...1,129,445
JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:539,806...578,496
Ensembl chrNW_004955542:555,030...578,227
JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274
JBrowse link
G Ppp1r7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:520,605...539,699 JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,765,578...2,768,057
Ensembl chrNW_004955542:2,765,566...2,766,371
JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,751,953...2,759,661 JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,530,349...2,564,072 JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,573,648...2,620,240
Ensembl chrNW_004955542:2,571,203...2,620,313
JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:897,708...906,011
Ensembl chrNW_004955542:898,462...906,703
JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,453,826...2,472,951
Ensembl chrNW_004955542:2,454,708...2,472,851
JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:401,081...444,304
Ensembl chrNW_004955542:401,081...443,962
JBrowse link
G Sned1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:587,159...628,159
Ensembl chrNW_004955542:589,746...627,519
JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:268,406...279,323
Ensembl chrNW_004955542:272,715...280,110
JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:192,888...217,985
Ensembl chrNW_004955542:195,088...217,831
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,264,472...2,301,083
Ensembl chrNW_004955542:2,265,901...2,301,215
JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665
JBrowse link
G Ube2f ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 More... NCBI chrNW_004955542:2,480,455...2,515,982
Ensembl chrNW_004955542:2,480,455...2,515,986
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers 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 chrNW_004955416:15,878,972...15,983,322
Ensembl chrNW_004955416:15,884,624...15,983,322
JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:16,125,536...16,186,046 JBrowse link
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,415,981...15,442,032
Ensembl chrNW_004955416:15,424,932...15,444,075
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,814,753...14,899,865
Ensembl chrNW_004955416:14,842,033...14,899,687
JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,102,632...15,106,372
Ensembl chrNW_004955416:15,102,632...15,106,372
JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,672,291...14,768,879
Ensembl chrNW_004955416:14,672,291...14,765,893
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,948,121...14,959,035
Ensembl chrNW_004955416:14,948,123...14,960,005
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 chrNW_004955416:14,915,031...14,947,634
Ensembl chrNW_004955416:14,936,546...14,949,252
JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,098,922...15,102,499
Ensembl chrNW_004955416:15,098,922...15,102,499
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 chrNW_004955416:16,105,937...16,122,114
Ensembl chrNW_004955416:16,105,772...16,122,139
JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,993,492...14,995,818
Ensembl chrNW_004955416:14,990,031...14,995,818
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 chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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 chrNW_004955416:14,558,628...14,652,031
Ensembl chrNW_004955416:14,560,292...14,650,036
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,555,959...15,570,925
Ensembl chrNW_004955416:15,555,933...15,570,985
JBrowse link
G LOC102024459 arpin ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,340,070...15,399,017 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 chrNW_004955416:14,961,405...14,990,284 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 chrNW_004955416:15,447,959...15,450,209 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 chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768
JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,074,190...15,080,561
Ensembl chrNW_004955416:15,074,190...15,080,561
JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,527,925...15,537,497
Ensembl chrNW_004955416:15,527,941...15,534,424
JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,538,309...15,549,275
Ensembl chrNW_004955416:15,533,268...15,549,772
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,023,620...15,045,958
Ensembl chrNW_004955416:15,023,620...15,045,958
JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,013,595...15,020,038
Ensembl chrNW_004955416:15,014,340...15,019,173
JBrowse link
G Rhcg Rh family C glycoprotein ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327
JBrowse link
G Sema4b semaphorin 4B ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,107,258...15,143,338
Ensembl chrNW_004955416:15,108,175...15,130,746
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 chrNW_004955416:15,572,789...15,615,556
Ensembl chrNW_004955416:15,572,331...15,615,603
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:14,999,692...15,012,581
Ensembl chrNW_004955416:14,999,375...15,012,581
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 chrNW_004955416:15,049,849...15,071,108
Ensembl chrNW_004955416:15,048,106...15,071,102
JBrowse link
G Wdr93 WD repeat domain 93 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,472,866...15,527,853
Ensembl chrNW_004955416:15,472,742...15,517,144
JBrowse link
G Znf710 zinc finger protein 710 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar PMID:28492532 NCBI chrNW_004955416:15,215,542...15,278,742 JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmac2l distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955409:12,473,891...12,485,066
Ensembl chrNW_004955409:12,474,063...12,484,984
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition OMIM
ClinVar
PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... NCBI chrNW_004955409:12,485,003...12,531,759
Ensembl chrNW_004955409:12,485,003...12,535,098
JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chrNW_004955409:12,622,259...12,632,246
Ensembl chrNW_004955409:12,622,259...12,632,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6687
      disease of metabolism 6687
        inherited metabolic disorder 5138
          Metabolic Brain Diseases, Inborn 1215
            2-hydroxyglutaric aciduria 87
              D-2-hydroxyglutaric aciduria + 82
              L-2-hydroxyglutaric aciduria 4
              combined D-2- and L-2-hydroxyglutaric aciduria 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        central nervous system disease 10832
          brain disease 10162
            Metabolic Brain Diseases 1333
              Metabolic Brain Diseases, Inborn 1215
                2-hydroxyglutaric aciduria 87
                  D-2-hydroxyglutaric aciduria + 82
                  L-2-hydroxyglutaric aciduria 4
                  combined D-2- and L-2-hydroxyglutaric aciduria 1
paths to the root