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Pathways

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
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Accession:DOID:0050451 term browser browse the term
Definition:A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)
Synonyms:exact_synonym: Bangungut;   Brugada ECG pattern;   Brugada Type ECG Pattern;   Brugada syndrome (shorter-than-normal QT interval);   Brugada type idiopathic ventricular fibrillation;   Pokkuri death syndrome;   SUNDS;   dream disease;   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
 xref: EFO:0004691;   GARD:1030;   MIM:PS601144;   MONDO:0015263;   NCI:C142891;   ORDO:130



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Brugada syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Acaa1a acetyl-CoA acyltransferase 1A ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,956,126...127,966,348
Ensembl chr 8:127,956,129...127,966,241
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,016,589...128,056,193
Ensembl chr 8:128,016,526...128,048,171
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:17161064 PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:243,228,448...243,263,751
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22385640 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817017 PMID:21383000 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:82,473,097...82,818,564
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,520,478...127,644,999
Ensembl chr 8:127,520,499...127,644,999
JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,704,181...127,750,929
Ensembl chr 8:127,704,232...127,750,931
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,062,688...128,082,529
Ensembl chr 8:128,059,126...128,083,460
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:123,469,282...123,498,948
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25637381 PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:28,641,057...28,651,187
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:104,949,750...104,953,475
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,185,244...127,493,296
Ensembl chr 8:127,169,226...127,493,296
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:18313602 PMID:24144883 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chr  X:110,727,234...110,727,849
Ensembl chr  X:110,726,282...110,728,047
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28986455 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
G Mir26a1 microRNA 26a-1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,633,048...127,633,137
Ensembl chr 8:127,633,048...127,633,137
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28778945 PMID:35533732 NCBI chr 2:198,692,857...198,706,953
Ensembl chr 2:198,693,101...198,705,738
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,850,481...127,941,518
Ensembl chr 8:127,850,484...127,939,750
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:127,672,980...127,695,939
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:128,374,449...128,444,718
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome
CTD
ClinVar
PMID:22155597 PMID:25741868 NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:235469 PMID:235504 PMID:256650 PMID:291807 PMID:461398 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slc22a13 solute carrier family 22 member 13 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,800,097...127,811,750
Ensembl chr 8:127,800,097...127,811,724
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,772,275...127,794,222
Ensembl chr 8:127,772,275...127,785,993
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr16:1,673,964...1,791,902
Ensembl chr16:1,673,964...1,791,902
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:26220970 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,654,491...127,672,742
Ensembl chr 8:127,654,595...127,672,753
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,971,194...128,012,511
Ensembl chr 8:127,966,100...128,006,571
JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:31568572 PMID:31983221 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19012347 PMID:19159394 PMID:25741868 PMID:27611364 PMID:28973303 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 More... NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19716085 PMID:22581653 PMID:23861362 PMID:25417810 PMID:25637381 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:24998131 PMID:25053638 PMID:25650408 PMID:25691538 PMID:25691686 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO
OMIM:601144
ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
MouseDO
ClinVar
OMIM
PMID:1309946 PMID:1452303 PMID:2107088 PMID:2247482 PMID:3871168 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405
JBrowse link
Brugada syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:123,469,282...123,498,948
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chr17:82,473,097...82,818,564
Ensembl chr17:82,473,129...82,818,564
JBrowse link
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 ClinVar Annotator: match by term: Brugada syndrome 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
Brugada syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar Annotator: match by term: KCNE3-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 1:163,916,695...163,919,022
Ensembl chr 1:163,916,695...163,919,022
JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium voltage-gated channel beta subunit 3 ISO
ISS
ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 | ClinVar Annotator: match by term: SCN3B-related condition
OMIM:613120
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20031595 PMID:20042427 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
Brugada syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,595,194...68,623,179
Ensembl chr 8:68,595,248...68,623,178
JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,089,141...67,136,764
Ensembl chr 8:67,083,802...67,152,245
JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358
JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,331,519...67,430,194
Ensembl chr 8:67,331,519...67,413,485
JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:67,829,048...67,864,505
JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,048,121...67,063,192
Ensembl chr 8:67,048,123...67,062,881
JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,899,438...66,906,200
Ensembl chr 8:66,899,438...66,906,200
JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:66,925,651...66,930,274
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149
JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,002,032...67,047,563
Ensembl chr 8:67,002,014...67,047,559
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome 8
CTD
ClinVar
OMIM
PMID:9536098 PMID:12750403 PMID:15123648 PMID:16199547 PMID:17576681 More... NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560
JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,799,989...67,810,685
Ensembl chr 8:67,799,304...67,814,536
JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,467,013...67,469,989
Ensembl chr 8:67,444,536...67,487,493
JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,504,042...67,512,125
Ensembl chr 8:67,504,037...67,513,708
JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,906,684...66,925,512
Ensembl chr 8:66,906,624...66,919,584
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:66,844,116...66,852,016
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152
JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,892,678...67,959,231
Ensembl chr 8:67,892,702...67,959,236
JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083
JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,959,181...68,117,296
Ensembl chr 8:67,958,421...68,119,234
JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,861,504...66,888,151
Ensembl chr 8:66,861,537...66,888,150
JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,244,318...67,267,060
Ensembl chr 8:67,243,824...67,267,058
JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,557,846...67,565,734
Ensembl chr 8:67,557,847...67,565,730
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720
JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,657,409...67,669,558
Ensembl chr 8:67,657,410...67,669,558
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,806,629...68,832,638
Ensembl chr 8:68,806,632...68,812,417
JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,217,151...67,236,224
Ensembl chr 8:67,216,527...67,236,224
JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:66,888,788...66,895,379
JBrowse link
Brugada syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:15563876 PMID:21349352 PMID:21703448 PMID:22284586 PMID:22457051 More... NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:12571597 PMID:15178757 PMID:18832177 PMID:22581653 PMID:23396983 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27114410 PMID:28492532 NCBI chr 2:192,214,556...192,270,821
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chr18:12,121,287...12,179,590
Ensembl chr18:12,121,181...12,179,590
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27908349 PMID:28492532 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666 NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,800,814...85,827,429
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:262,671,311...262,912,551
Ensembl chr 1:262,688,978...262,891,364
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28404607 PMID:28492532 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:25741868 PMID:28491533 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:1452303 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:246,441,139...246,467,281
Ensembl chr 2:246,441,076...246,462,854
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition OMIM
ClinVar
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 2:246,397,051...246,665,000
Ensembl chr 2:246,396,891...246,664,954
JBrowse link
Sudden Unexpected Nocturnal Death Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17161064 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:82,473,097...82,818,564
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:123,469,282...123,498,948
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:104,949,750...104,953,475
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30847666 NCBI chr  X:110,727,234...110,727,849
Ensembl chr  X:110,726,282...110,728,047
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More... NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:12097481 PMID:16199547 PMID:17576681 PMID:23115331 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:1452303 PMID:2380016 PMID:3953067 PMID:8541846 PMID:8620612 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:28492532 NCBI chr16:1,673,964...1,791,902
Ensembl chr16:1,673,964...1,791,902
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:26220970 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Brugada syndrome 154
        Brugada syndrome 1 11
        Brugada syndrome 2 1
        Brugada syndrome 3 1
        Brugada syndrome 4 1
        Brugada syndrome 5 54
        Brugada syndrome 6 2
        Brugada syndrome 7 1
        Brugada syndrome 8 33
        Brugada syndrome 9 2
        Cardiac Conduction Defect + 21
        Sudden Unexpected Nocturnal Death Syndrome 29
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 1 11
                Brugada syndrome 2 1
                Brugada syndrome 3 1
                Brugada syndrome 4 1
                Brugada syndrome 5 54
                Brugada syndrome 6 2
                Brugada syndrome 7 1
                Brugada syndrome 8 33
                Brugada syndrome 9 2
                Cardiac Conduction Defect + 21
                Sudden Unexpected Nocturnal Death Syndrome 29
paths to the root