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.
G
Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Glutaric acidemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
G
Syce2
synaptonemal complex central element protein 2
ISO
ClinVar Annotator: match by term: Glutaric acidemia
ClinVar
PMID:25741868
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
RGD
PMID:15840571
RGD:10047115
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Calr
calreticulin
ISO
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
G
Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Glutaric aciduria, type 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:1951469 PMID:6377226 PMID:7795610 PMID:8541831 PMID:8900227 PMID:8900228 PMID:9266361 PMID:9536098 PMID:9600243 PMID:9711871 PMID:9856558 PMID:9881681 PMID:10066389 PMID:10371528 PMID:10384381 PMID:10649503 PMID:10699052 PMID:10759157 PMID:10960496 PMID:11015709 PMID:11024031 PMID:11058907 PMID:11073722 PMID:11174631 PMID:11508549 PMID:11825066 PMID:11854167 PMID:12199454 PMID:12210585 PMID:12473778 PMID:12872844 PMID:12948740 PMID:14691600 PMID:15318278 PMID:15505393 PMID:15505400 PMID:15573311 PMID:15954035 PMID:16183314 PMID:16199547 PMID:16377226 PMID:16466958 PMID:16488172 PMID:16602100 PMID:16641220 PMID:17188916 PMID:17478444 PMID:17576681 PMID:17622945 PMID:17642054 PMID:17661081 PMID:18285246 PMID:18411069 PMID:18459892 PMID:18683078 PMID:18775954 PMID:18926513 PMID:19167251 PMID:19433275 PMID:19433437 PMID:19486177 PMID:19630565 PMID:20084589 PMID:20514322 PMID:20629163 PMID:20732827 PMID:20836999 PMID:20960650 PMID:20978942 PMID:21031586 PMID:21176883 PMID:21228398 PMID:21811973 PMID:21912879 PMID:22106832 PMID:22231382 PMID:22728054 PMID:23104440 PMID:23225040 PMID:23395213 PMID:23884036 PMID:24332224 PMID:24795062 PMID:24973495 PMID:25087612 PMID:25190159 PMID:25204480 PMID:25255367 PMID:25256449 PMID:25590979 PMID:25735478 PMID:25741868 PMID:25762492 PMID:26071121 PMID:26316201 PMID:26589311 PMID:26593172 PMID:26633542 PMID:26656312 PMID:27243974 PMID:27250579 PMID:27351573 PMID:27397597 PMID:27476540 PMID:27629047 PMID:27672653 PMID:27896087 PMID:28062662 PMID:28143689 PMID:28302372 PMID:28352331 PMID:28389991 PMID:28411331 PMID:28438223 PMID:28492532 PMID:28781846 PMID:28794906 PMID:29086383 PMID:29201125 PMID:29665094 PMID:30217722 PMID:30298489 PMID:30512148 PMID:30570710 PMID:31130284 PMID:31319225 PMID:31536184 PMID:31589614 PMID:31788423 PMID:32005694 PMID:32240488 PMID:32508882 PMID:32778825 PMID:33116287 PMID:33123633 PMID:33728242 PMID:34258142 PMID:34306040 PMID:34344405 PMID:34504725 PMID:28545977 More...
RGD:13515124
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
G
Klf1
Kruppel like factor 1
ISO
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
G
Rtbdn
retbindin
ISO
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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 PMID:9711871 PMID:10371528 PMID:10699052 PMID:10960496 PMID:11058907 PMID:11073722 PMID:11854167 PMID:12210585 PMID:12948740 PMID:15318278 PMID:15505393 PMID:16602100 PMID:17478444 PMID:17576681 PMID:18683078 PMID:18926513 PMID:19486177 PMID:19630565 PMID:21031586 PMID:21176883 PMID:22728054 PMID:23104440 PMID:24973495 PMID:25256449 PMID:25735478 PMID:25741868 PMID:27250579 PMID:27672653 PMID:28302372 PMID:28438223 PMID:28492532 PMID:31536184 PMID:32005694 PMID:34258142 PMID:34344405 More...
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
G
Sugct
succinylCoA:glutarate-CoA transferase
ISO
ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency
OMIM ClinVar
PMID:1909402 PMID:12555941 PMID:18926513 PMID:25741868 PMID:28492532
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
G
Etfa
electron transfer flavoprotein subunit alpha
ISO
ClinVar Annotator: match by term: Glutaric acidemia type 2A
ClinVar
PMID:16510302 PMID:23785301 PMID:25741868 PMID:28492532 PMID:29096039
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all