Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 5
go back to main search page
Accession:DOID:0110222 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: BRGDA5
 narrow_synonym: CARDIAC CONDUCTION DEFECT, NONSPECIFIC
 primary_id: MESH:C567556
 alt_id: MIM:612838


show annotations for term's descendants           Sort by:
Brugada syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh6 alkB homolog 6 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,690,979...94,696,429
Ensembl chr 1:94,691,822...94,696,427 		JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,824,330...94,834,705
Ensembl chr 1:94,824,072...94,834,610 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,903,566...94,917,074
Ensembl chr 1:94,902,922...94,917,684 		JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,089,122...95,102,277
Ensembl chr 1:95,089,122...95,102,277 		JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:94,572,083...94,583,368 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:95,244,868...95,259,730 		JBrowse link
G Clip3 CAP-GLY domain containing linker protein 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,674,492...94,690,643
Ensembl chr 1:94,674,661...94,690,642 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431 		JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,549,663...94,572,330
Ensembl chr 1:94,569,216...94,570,889 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,140,737...95,158,676
Ensembl chr 1:95,141,620...95,157,439 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,017,980...95,021,582
Ensembl chr 1:95,017,687...95,021,457 		JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,329,482...95,346,940
Ensembl chr 1:95,332,631...95,371,536 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,238,785...95,239,689
Ensembl chr 1:95,238,785...95,239,691 		JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,199,277...95,202,599
Ensembl chr 1:95,199,271...95,202,623 		JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,232,804...95,234,144
Ensembl chr 1:95,232,336...95,234,354 		JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,414,556...95,418,645
Ensembl chr 1:95,414,557...95,418,591 		JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,432,918...95,440,129
Ensembl chr 1:95,432,919...95,439,702 		JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,395,327...95,404,722
Ensembl chr 1:95,395,146...95,405,364 		JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,405,071...95,414,407
Ensembl chr 1:95,405,225...95,414,345 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,106,516...95,125,918
Ensembl chr 1:95,106,518...95,121,055 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297 		JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,039,800...95,050,778
Ensembl chr 1:95,039,800...95,050,778 		JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,804,429...94,806,661
Ensembl chr 1:94,804,430...94,806,641 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,464,468...95,480,169
Ensembl chr 1:95,464,470...95,480,199 		JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,934,372...94,936,516
Ensembl chr 1:94,933,543...94,936,512 		JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,945,866...94,948,476
Ensembl chr 1:94,945,967...94,948,473 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,836,243...94,846,119
Ensembl chr 1:94,836,243...94,846,119 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:94,949,144...94,968,441 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,165,844...95,169,025
Ensembl chr 1:95,165,862...95,169,012 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,422,461...95,433,296
Ensembl chr 1:95,414,058...95,433,289 		JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,936,512...94,940,444
Ensembl chr 1:94,936,512...94,940,444 		JBrowse link
G Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,744,315...94,751,001
Ensembl chr 1:94,744,321...94,751,178 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,313,830...95,329,471
Ensembl chr 1:95,313,033...95,329,354 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:94,808,453...94,817,861 		JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,612,417...94,616,053
Ensembl chr 1:94,612,417...94,616,053 		JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,610,976...94,612,413
Ensembl chr 1:94,610,942...94,613,000 		JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,881,000...94,894,609
Ensembl chr 1:94,881,061...94,894,609 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,920,802...94,934,126
Ensembl chr 1:94,920,817...94,933,296 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:94,942,225...94,943,752 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,026,050...95,036,020
Ensembl chr 1:95,026,050...95,035,980 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,106,390...95,133,448
Ensembl chr 1:95,120,927...95,134,220 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome 5 		OMIM
CTD
ClinVar		 PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,703,662...94,704,611
Ensembl chr 1:94,702,409...94,706,092 		JBrowse link
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,696,866...94,701,230
Ensembl chr 1:94,696,609...94,701,230 		JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,605,100...94,610,949
Ensembl chr 1:94,605,101...94,610,949 		JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,104,448...95,106,268
Ensembl chr 1:95,104,452...95,106,283 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299 		JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,943,684...94,945,906
Ensembl chr 1:94,942,544...94,946,391 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,987,110...94,998,083
Ensembl chr 1:94,987,108...94,997,787 		JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,302,109...95,321,334
Ensembl chr 1:95,302,105...95,313,119 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223 		JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,969,374...94,978,553
Ensembl chr 1:94,969,374...94,971,679 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Brugada syndrome 154
        Brugada syndrome 5 54
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            heart conduction disease 467
              Brugada syndrome 154
                Brugada syndrome 5 54
paths to the root