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Brugada syndrome 2 - Ontology Report - Rat Genome Database

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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:Brugada syndrome 2
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Accession:DOID:0110219 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: BRGDA2;   GPD1L-RELATED CONDITION
 primary_id: MESH:C567087
 alt_id: MIM:611777

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Brugada syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chrNW_004624788:10,173,629...10,240,200
Ensembl chrNW_004624788:10,173,551...10,240,704 		JBrowse link
G G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr15:76,617,122...76,680,508
Ensembl chr15:76,617,441...76,677,713 		JBrowse link
G P GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666 		JBrowse link
G S Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chrNW_004936473:22,649,107...22,774,719
Ensembl chrNW_004936473:22,649,133...22,696,959 		JBrowse link
G D GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr23:12,568,914...12,631,903
Ensembl chr23:12,522,398...12,632,447 		JBrowse link
G B GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172 		JBrowse link
G C Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition OMIM
ClinVar		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chrNW_004955430:23,481,957...23,536,407
Ensembl chrNW_004955430:23,481,957...23,539,495 		JBrowse link
G R Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G M Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 9:114,728,407...114,763,055
Ensembl chr 9:114,728,409...114,763,055 		JBrowse link
G H GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP
EXP 		ClinVar Annotator: match by term: GPD1L-related condition
ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292310
    syndrome 133617
      Brugada syndrome 1610
        Brugada syndrome 2 10
Path 2
Term Annotations click to browse term
  disease 292310
    disease of anatomical entity 275968
      respiratory system disease 66349
        thoracic disease 47963
          heart disease 41231
            heart conduction disease 6437
              Brugada syndrome 1610
                Brugada syndrome 2 10
paths to the root