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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:gamma-amino butyric acid metabolism disorder
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Accession:DOID:0060176 term browser browse the term
Definition:An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)
Synonyms:primary_id: RDO:9003115
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:9536098 PMID:10407778 PMID:15642443 PMID:17576681 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
homocarnosinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cndp1 carnosine dipeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:4172777 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051 		JBrowse link
succinic semialdehyde dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:271980		 OMIM
ClinVar
CTD		 PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:17576681 PMID:20018576 PMID:22437753 PMID:23430864 PMID:23825041 PMID:24033266 PMID:25431891 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26964512 PMID:27104484 PMID:27117035 PMID:27896081 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:30091983 PMID:31117962 PMID:32238909 PMID:32887777 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413 		JBrowse link
G Gpld1 glycosylphosphatidylinositol specific phospholipase D1 ISO ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:30091983 NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            gamma-amino butyric acid metabolism disorder 10
              GABA aminotransferase deficiency 7
              homocarnosinosis 1
              succinic semialdehyde dehydrogenase deficiency 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              gamma-amino butyric acid metabolism disorder 10
                GABA aminotransferase deficiency 7
                homocarnosinosis 1
                succinic semialdehyde dehydrogenase deficiency 2
paths to the root