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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;   RDO:0000508
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
ClinVar Annotator: match by OMIM:613163
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6148708, PMID:10407778, PMID:15642443, PMID:20052547, PMID:25738457, PMID:25741868, PMID:26467025, PMID:27596361, PMID:27903293, PMID:28411234, PMID:28492532, PMID:31133775 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,041,510...7,055,107
Ensembl chr10:7,041,510...7,055,101
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 chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G RGD1309748 similar to CG4768-PA ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:6,841,071...6,870,011
Ensembl chr10:6,841,071...6,870,011
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency ClinVar PMID:28492532 NCBI chr10:6,930,462...7,019,910
Ensembl chr10:6,975,244...7,018,930
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            GABA aminotransferase deficiency 7
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              gamma-amino butyric acid metabolism disorder 10
                GABA aminotransferase deficiency 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.