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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:glutaric acidemia I
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Accession:DOID:0111254 term browser browse the term
Definition:An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: GA I;   GA1;   Glutaric Acidemia Type I;   glutaric academia type 1;   glutaric acidemia 1;   glutaric acidemia type 1;   glutaric aciduria 1;   glutaric aciduria I;   glutaric aciduria type 1;   glutaric aciduria type I;   glutaryl-CoA dehydrogenase deficiency;   glutaryl-coenzyme A dehydrogenase deficiency
 xref: GARD:6522;   MESH:C536833;   MIM:231670;   MONDO:0009281;   NCI:C99101;   ORDO:25


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glutaric acidemia I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:55,231,440...55,236,750 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,939,984...28,946,639
Ensembl chr 8:28,939,985...28,943,929 		JBrowse link
G Angptl8 angiopoietin-like 8 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,652,555...28,654,581
Ensembl chr 8:28,652,555...28,654,581 		JBrowse link
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,047,191...40,053,216
Ensembl chr19:40,047,191...40,053,216 		JBrowse link
G C8h19orf38 similar to human chromosome 19 open reading frame 38 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,337,629...28,371,806
Ensembl chr 8:28,354,725...28,371,804 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Carm1 coactivator-associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,373,370...28,418,056
Ensembl chr 8:28,373,362...28,418,056 		JBrowse link
G Ccdc159 coiled-coil domain containing 159 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,733,988...28,742,646
Ensembl chr 8:28,725,003...28,744,890 		JBrowse link
G Cnn1 calponin 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,908,437...28,917,099
Ensembl chr 8:28,908,330...28,919,482 		JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,231,061...40,245,329 JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,987,328...39,991,418
Ensembl chr19:39,987,324...39,991,432 		JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,149,505...40,152,225
Ensembl chr19:40,149,505...40,152,225 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,254,344...28,336,297
Ensembl chr 8:28,254,529...28,336,295 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,618,523...28,670,741
Ensembl chr 8:28,618,523...28,670,648 		JBrowse link
G Ecsit ECSIT signaling integrator ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,881,594...28,894,443
Ensembl chr 8:28,881,594...28,894,397 		JBrowse link
G Elavl3 ELAV like RNA binding protein 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,823,120...28,859,395
Ensembl chr 8:28,825,707...28,859,659 		JBrowse link
G Elof1 elongation factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,921,338...28,926,612
Ensembl chr 8:28,921,339...28,926,228 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,196,255...40,205,830
Ensembl chr19:40,173,716...40,205,823 		JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,995,408...40,002,312
Ensembl chr19:39,995,408...40,002,312 		JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,225,503...40,228,052
Ensembl chr19:40,225,984...40,228,055 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:231670
ClinVar Annotator: match by term: Glutaric aciduria, type 1 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 More... RGD:13515124 NCBI chr19:40,168,038...40,174,536
Ensembl chr19:40,168,141...40,175,686 		JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,034,675...40,043,064
Ensembl chr19:40,034,967...40,043,061 		JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,056,732...40,075,027
Ensembl chr19:40,056,732...40,081,270 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,399,373...40,400,897
Ensembl chr19:40,398,160...40,402,708 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,081,126...40,082,910
Ensembl chr19:40,073,541...40,085,218 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,587,770...28,617,212
Ensembl chr 8:28,587,770...28,616,993 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:7795610 PMID:9536098 PMID:10371528 PMID:10699052 PMID:11825066 More... NCBI chr19:40,155,476...40,158,651
Ensembl chr19:40,155,480...40,158,607 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G LOC102546572 zinc finger protein 709-like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:12,496,595...12,519,259
Ensembl chr 7:12,504,501...12,519,295 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,356,967...40,359,834
Ensembl chr19:40,354,819...40,359,834 		JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,959,964...39,979,299
Ensembl chr19:39,959,965...39,979,246 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,121,271...40,149,073
Ensembl chr19:40,112,831...40,149,073 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,373,436...40,391,351
Ensembl chr19:40,373,449...40,391,347 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,259,873...40,356,966
Ensembl chr19:40,260,084...40,353,092 		JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,796,909...28,810,587
Ensembl chr 8:28,796,701...28,810,511 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,085,788...40,091,083
Ensembl chr19:40,084,430...40,091,006 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,810,836...28,822,503
Ensembl chr 8:28,810,889...28,822,503 		JBrowse link
G Rab3d RAB3D, member RAS oncogene family ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,714,706...28,725,379
Ensembl chr 8:28,716,241...28,725,317 		JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,219,235...40,225,543
Ensembl chr19:40,219,636...40,225,543 		JBrowse link
G Ralgdsl3 ral guanine nucleotide dissociation stimulator like 3 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,775,187...28,796,765
Ensembl chr 8:28,776,909...28,796,771 		JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,091,206...40,100,904
Ensembl chr19:40,091,210...40,100,899 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,102,364...40,112,791
Ensembl chr19:40,102,364...40,109,295 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Spc24 SPC24 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,576,409...28,581,481
Ensembl chr 8:28,576,409...28,581,299 		JBrowse link
G Swsap1 SWIM-type zinc finger 7 associated protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,762,753...28,765,281
Ensembl chr 8:28,762,616...28,765,234 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:1951469 PMID:8900227 PMID:8900228 PMID:9536098 PMID:9600243 More... NCBI chr19:40,173,713...40,195,959
Ensembl chr19:40,173,716...40,205,823 		JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,421,370...28,424,339
Ensembl chr 8:28,421,370...28,424,339 		JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,336,072...28,342,853
Ensembl chr 8:28,336,074...28,338,841 		JBrowse link
G Tmem205 transmembrane protein 205 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,728,172...28,733,908
Ensembl chr 8:28,728,172...28,733,908 		JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,004,271...40,024,565
Ensembl chr19:40,004,275...40,024,187 		JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,029,952...40,033,368
Ensembl chr19:40,029,952...40,033,368 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:40,361,583...40,374,971
Ensembl chr19:40,361,583...40,374,622 		JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,981,890...39,987,443
Ensembl chr19:39,981,262...39,987,442 		JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:39,980,247...39,981,619
Ensembl chr19:39,980,247...39,982,737 		JBrowse link
G Yipf2 Yip1 domain family, member 2 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,417,254...28,421,455
Ensembl chr 8:28,417,278...28,421,455 		JBrowse link
G Zfp653 zinc finger protein 653 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,862,618...28,881,439
Ensembl chr 8:28,862,618...28,881,070 		JBrowse link
G Zfp709 zinc finger protein 709 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:17,942,986...17,953,720
Ensembl chr16:17,944,162...17,953,463 		JBrowse link
G Zfp791 zinc finger protein 791 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr19:39,921,848...39,942,507
Ensembl chr19:39,923,678...39,938,618 		JBrowse link
G Zfp799 zinc finger protein 799 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:12,548,586...12,561,317
Ensembl chr 7:12,550,400...12,561,507 		JBrowse link
G Zfp866 zinc finger protein 866 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:19,687,869...19,710,407
Ensembl chr16:19,702,297...19,709,330 		JBrowse link
G Zfp867 zinc finger protein 867 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr10:44,744,355...44,754,764
Ensembl chr10:44,744,356...44,755,624 		JBrowse link
G Zfp873 zinc finger protein 873 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 7:8,577,725...8,602,577
Ensembl chr 7:8,577,999...8,602,710 		JBrowse link
G Zfp878 zinc finger protein 878 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr16:17,890,878...17,920,716
Ensembl chr16:17,890,835...17,902,633 		JBrowse link
G Zfp951 zinc finger protein 951 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr14:5,332,634...5,353,458
Ensembl chr14:5,338,008...5,353,478 		JBrowse link
G Znf69l zinc finger protein 69 like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 3:159,009,658...159,018,416 JBrowse link
G Znf709l zinc finger protein 709 like ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1 ClinVar PMID:28492532 NCBI chr 8:28,986,472...28,997,594
Ensembl chr 8:28,975,836...28,997,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    Nutritional and Metabolic Diseases 8562
      disease of metabolism 8562
        Metabolic Brain Diseases 1523
          glutaric acidemia I 68
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal recessive disease 7133
                glutaric acidemia I 68
paths to the root