ONTOLOGY REPORT - ANNOTATIONS


Term:Brugada syndrome
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Accession:DOID:0050451 term browser browse the term
Definition:An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
Synonyms:exact_synonym: Bangungut;   Brugada ECG pattern;   Brugada Type ECG Pattern;   Brugada syndrome (shorter-than-normal QT interval);   Brugada type idiopathic ventricular fibrillation;   Dream disease;   Pokkuri death syndrome;   SUNDS;   sudden unexplained death syndrome;   sudden unexplained nocturnal death syndrome;   sudden unexplained nocturnal death syndrome (SUNDS)
 narrow_synonym: Brugada Syndrome, Lidocaine-Induced;   SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC
 related_synonym: Brugada syndrome, phenotype modifier
 primary_id: MESH:D053840
 alt_id: RDO:0000064
 xref: OMIM:PS601144;   ORDO:130
For additional species annotation, visit the Alliance of Genome Resources.


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Brugada syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:8554872
G Acaa1a acetyl-CoA acyltransferase 1A JBrowse link 8 128,027,880 128,036,471 RGD:8554872
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 JBrowse link 4 15,706,974 16,130,848 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:8554872
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Ctdspl CTD small phosphatase like JBrowse link 8 127,065,292 127,726,248 RGD:8554872
G Dlec1 deleted in lung and esophageal cancer 1 JBrowse link 8 127,788,919 127,835,986 RGD:8554872
G Exog exo/endonuclease G JBrowse link 8 128,133,398 128,153,110 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:11554173
G Itga9 integrin subunit alpha 9 JBrowse link 8 127,271,029 127,576,709 RGD:8554872
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:8554872
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:8554872
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 JBrowse link X 113,583,844 113,584,459 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mir26a microRNA 26a JBrowse link 8 127,714,441 127,714,530 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myd88 MYD88, innate immune signal transduction adaptor JBrowse link 8 128,022,512 128,027,462 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Oxsr1 oxidative stress responsive kinase 1 JBrowse link 8 127,920,349 128,009,951 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Plcd1 phospholipase C, delta 1 JBrowse link 8 127,753,514 127,782,070 RGD:8554872
G Scn10a sodium voltage-gated channel alpha subunit 10 JBrowse link 8 128,298,593 128,416,896 RGD:8554872
RGD:11554173
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:11554173
RGD:8554872
G Scn3b sodium voltage-gated channel beta subunit 3 JBrowse link 8 44,136,413 44,159,011 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
RGD:11554173
G Slc22a13 solute carrier family 22 member 13 JBrowse link 8 127,885,268 127,900,829 RGD:8554872
G Slc22a14 solute carrier family 22, member 14 JBrowse link 8 127,858,425 127,871,192 RGD:8554872
G Slmap sarcolemma associated protein JBrowse link 16 2,112,271 2,227,336 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
G Vill villin-like JBrowse link 8 127,735,233 127,753,313 RGD:8554872
G Xylb xylulokinase JBrowse link 8 128,041,875 128,076,951 RGD:8554872
Brugada syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Kcna5 potassium voltage-gated channel subfamily A member 5 JBrowse link 4 159,077,195 159,079,003 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
RGD:7240710
Brugada syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:7240710
RGD:8554872
Brugada syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:7240710
RGD:8554872
Brugada syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:7240710
RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
Brugada syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:7240710
RGD:8554872
Brugada syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 JBrowse link 1 165,189,934 165,196,949 RGD:7240710
RGD:8554872
Brugada syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3b sodium voltage-gated channel beta subunit 3 JBrowse link 8 44,136,413 44,159,011 RGD:7240710
RGD:8554872
Brugada syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:7240710
RGD:8554872
Brugada syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnd3 potassium voltage-gated channel subfamily D member 3 JBrowse link 2 207,923,775 208,140,727 RGD:7240710
RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
Cardiac Conduction Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap10 A-kinase anchoring protein 10 JBrowse link 10 48,150,902 48,210,074 RGD:7240710
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:12914774
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:11066902
G Tnni3k TNNI3 interacting kinase JBrowse link 2 261,069,210 261,337,294 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Brugada syndrome 50
        Brugada syndrome 1 6
        Brugada syndrome 2 1
        Brugada syndrome 3 1
        Brugada syndrome 4 2
        Brugada syndrome 5 1
        Brugada syndrome 6 1
        Brugada syndrome 7 1
        Brugada syndrome 8 1
        Brugada syndrome 9 2
        Cardiac Conduction Defect + 10
        Sudden Unexpected Nocturnal Death Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      cardiovascular system disease 4056
        heart disease 2226
          heart conduction disease 263
            Brugada syndrome 50
              Brugada syndrome 1 6
              Brugada syndrome 2 1
              Brugada syndrome 3 1
              Brugada syndrome 4 2
              Brugada syndrome 5 1
              Brugada syndrome 6 1
              Brugada syndrome 7 1
              Brugada syndrome 8 1
              Brugada syndrome 9 2
              Cardiac Conduction Defect + 10
              Sudden Unexpected Nocturnal Death Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.