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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:GABA aminotransferase deficiency
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Accession:DOID:0060174 term browser browse the term
Definition:A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO)
Synonyms:exact_synonym: 4 alpha aminobutyrate transaminase deficiency;   GABA-transaminase deficiency;   Gamma aminobutyrate transaminase deficiency;   gamma aminobutyric acid transaminase deficiency;   gamma-amino butyric acid transaminase deficiency
 primary_id: MESH:C535407
 alt_id: OMIM:613163



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GABA aminotransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            GABA aminotransferase deficiency 7
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              gamma-amino butyric acid metabolism disorder 12
                GABA aminotransferase deficiency 7
paths to the root