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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 5
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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: OMIM: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 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973 		JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155 		JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678 		JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844 		JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795 		JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322 		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 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001 		JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151 		JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006 		JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431 		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 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917 		JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272 		JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033 		JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849 		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 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278 		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 1:86,305,531...86,312,455 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 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519 		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 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954 		JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891 		JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337 		JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012 		JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811 		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 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071 		JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030 		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 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455 		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 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		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 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991 		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 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725 		JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952 		JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447 		JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592 		JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952 		JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162 		JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909 		JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192 		JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573 		JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034 		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 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366 		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 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760 		JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488 		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 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868 		JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848 		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 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462 		JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354 		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 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637 		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 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Brugada syndrome 125
        Brugada syndrome 5 54
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            Brugada syndrome 125
              Brugada syndrome 5 54
paths to the root