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: gamma-amino butyric acid metabolism disorder
Accession: DOID:0060176
browse the term
Definition: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)
Synonyms: primary_id: RDO:9003115
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
OMIM CTD ClinVar
PMID:6148708 PMID:9536098 PMID:10407778 PMID:15642443 PMID:16199547 PMID:17576681 PMID:20052547 PMID:25640679 PMID:25738457 PMID:25741868 PMID:26467025 PMID:27596361 PMID:27903293 PMID:28411234 PMID:28492532 PMID:29302074 PMID:30617166 PMID:31133775 More...
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Carhsp1
calcium regulated heat stable protein 1
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:25738457 PMID:28492532
NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:28492532
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Hapstr1
HUWE1 associated protein modifying stress responses
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:28492532
NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
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Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:25738457 PMID:28492532
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Tmem186
transmembrane protein 186
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:25738457 PMID:28492532
NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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Usp7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar
PMID:25738457 PMID:28492532
NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
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Cndp1
carnosine dipeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4172777
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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Aldh5a1
aldehyde dehydrogenase 5 family, member A1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
OMIM CTD ClinVar
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 PMID:11544478 PMID:11901270 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:16199547 PMID:16442322 PMID:16542398 PMID:16545979 PMID:17438226 PMID:17576681 PMID:19300440 PMID:19484191 PMID:20018576 PMID:20304328 PMID:21612881 PMID:22437753 PMID:23430864 PMID:23825041 PMID:23926001 PMID:24033266 PMID:25122112 PMID:25246302 PMID:25363768 PMID:25431891 PMID:25558043 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26268900 PMID:26964512 PMID:27056292 PMID:27104484 PMID:27117035 PMID:27815844 PMID:27824329 PMID:27896081 PMID:28186584 PMID:28191889 PMID:28407358 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:30091983 PMID:30829465 PMID:31117962 PMID:31267348 PMID:32005694 PMID:32093054 PMID:32223457 PMID:32238909 PMID:32348839 PMID:32395407 PMID:32402538 PMID:32887777 PMID:32907636 PMID:33203024 PMID:34882073 More...
NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
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Dcdc2
doublecortin domain containing 2
ISO
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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Gpld1
glycosylphosphatidylinositol specific phospholipase D1
ISO
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
ClinVar
PMID:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 PMID:27104484 PMID:28492532 PMID:30091983 PMID:31267348 PMID:32402538 PMID:33203024 PMID:34882073 More...
NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
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Mrs2
magnesium transporter MRS2
ISO
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
ClinVar
PMID:28492532
NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
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