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
Accession: DOID:0110222
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16199547 PMID:16205844 PMID:17020904 PMID:17576681 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18464934 PMID:18941776 PMID:19522081 PMID:19710327 PMID:19808477 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21040232 PMID:21703448 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22247482 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:22987075 PMID:23182416 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:24848745 PMID:24981977 PMID:25253298 PMID:25421039 PMID:25668026 PMID:25741868 PMID:25741913 PMID:25827112 PMID:25998140 PMID:26042039 PMID:26129877 PMID:26467025 PMID:26498160 PMID:26704558 PMID:27207958 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27707468 PMID:27896052 PMID:28074886 PMID:28218389 PMID:28331474 PMID:28341588 PMID:28449774 PMID:28488083 PMID:28492532 PMID:28600387 PMID:28681755 PMID:28717674 PMID:28726809 PMID:28837624 PMID:29056246 PMID:29358611 PMID:29572929 PMID:29655203 PMID:29758173 PMID:29915715 PMID:29924869 PMID:29992740 PMID:30182498 PMID:30660056 PMID:31069529 PMID:31465153 PMID:31709768 PMID:31729702 PMID:31737628 PMID:31980526 PMID:32192759 PMID:32369273 PMID:32466254 PMID:32593896 PMID:32613771 PMID:32651551 PMID:32931854 PMID:33552729 PMID:33901312 PMID:34034907 PMID:36011376 PMID:36288729 More...
NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739
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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
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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
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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
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Thap8
THAP domain containing 8
ISO
ClinVar Annotator: match by term: Brugada syndrome 5
ClinVar
PMID:28492532
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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
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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
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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
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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
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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
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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
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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
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