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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
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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;   MONDO:0015263;   NCI:C142891;   OMIM:PS601144;   ORDO:130


show annotations for term's descendants           Sort by:
Brugada syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAA1 acetyl-CoA acyltransferase 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,122,715...38,137,127
Ensembl chr 3:38,103,129...38,137,242 		JBrowse link
G ACVR2B activin A receptor type 2B IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G ACVR2B-AS1 ACVR2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,451,027...38,454,820
Ensembl chr 3:38,451,027...38,454,820 		JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)		 ClinVar PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval)		 ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22385640 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval)		 ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:22581653 PMID:22840528 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)		 ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CACNA2D1-AS1 CACNA2D1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr 7:82,009,177...82,029,955
Ensembl chr 7:82,009,177...82,029,955 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP 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 chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G CTDSPL CTD small phosphatase like IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,861,880...37,984,469
Ensembl chr 3:37,861,880...37,984,469 		JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome		 ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G EXOG exo/endonuclease G IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,496,340...38,526,303
Ensembl chr 3:38,496,127...38,542,161 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Brugada 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 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP 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 chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HRC histidine rich calcium binding protein IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396 		JBrowse link
G ITGA9 integrin subunit alpha 9 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,452,141...37,823,507
Ensembl chr 3:37,452,115...37,823,507 		JBrowse link
G ITGA9-AS1 ITGA9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,753,689...37,861,780
Ensembl chr 3:37,693,655...37,861,802 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome		 ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:28492532 More... NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome		 ClinVar PMID:18313602 PMID:24144883 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP 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 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP 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:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28986455 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LOC110121232 VISTA enhancer hs1961 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,764,508...37,767,589 JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)		 ClinVar PMID:1309946 PMID:9536098 PMID:10807545 PMID:11076825 PMID:11710892 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121286 VISTA enhancer hs2266 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,531,396...38,534,541 JBrowse link
G LOC110121287 VISTA enhancer hs2267 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,542,667...38,545,253 JBrowse link
G LOC110121288 VISTA enhancer hs2268 IAGP ClinVar Annotator: match by term: Brugada syndrome
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:20129283 PMID:22789973 More... NCBI chr 3:38,722,136...38,726,916 JBrowse link
G LOC111465007 HNF1 motif-containing MPRA enhancer 248 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,935,307...37,935,451 JBrowse link
G LOC112935929 Sharpr-MPRA regulatory region 7921 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,993,799...37,994,252 JBrowse link
G LOC112935930 Sharpr-MPRA regulatory region 5010 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,275,238...38,275,532 JBrowse link
G LOC120285841 VISTA enhancer hs2619 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,805,250...38,806,780 JBrowse link
G LOC121725139 Sharpr-MPRA regulatory region 12639 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,992,798...37,993,092 JBrowse link
G LOC122889068 Sharpr-MPRA regulatory region 2528 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,905,998...37,906,292 JBrowse link
G LOC122889069 Sharpr-MPRA regulatory region 12810 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,264,798...38,265,092 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126806651 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:38205703-38206902 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,164,212...38,165,411 JBrowse link
G LOC126806652 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:38912374-38913573 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,870,883...38,872,082 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 NCBI chr 4:113,355,404...113,356,603 JBrowse link
G LOC129389057 MPRA-validated peak4612 silencer IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,620,345...37,620,545 JBrowse link
G LOC129389058 MPRA-validated peak4613 silencer IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,432,944...38,433,144 JBrowse link
G LOC129936414 ATAC-STARR-seq lymphoblastoid silent region 14165 IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)		 ClinVar PMID:16199547 PMID:28492532
G LOC129936473 ATAC-STARR-seq lymphoblastoid active region 19674 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936474 ATAC-STARR-seq lymphoblastoid silent region 14200 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936475 ATAC-STARR-seq lymphoblastoid silent region 14201 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936476 ATAC-STARR-seq lymphoblastoid silent region 14202 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936477 ATAC-STARR-seq lymphoblastoid silent region 14203 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936478 ATAC-STARR-seq lymphoblastoid silent region 14204 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936479 ATAC-STARR-seq lymphoblastoid active region 19675 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936480 ATAC-STARR-seq lymphoblastoid active region 19676 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936481 ATAC-STARR-seq lymphoblastoid active region 19677 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936482 ATAC-STARR-seq lymphoblastoid active region 19678 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936483 ATAC-STARR-seq lymphoblastoid active region 19680 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936484 ATAC-STARR-seq lymphoblastoid active region 19681 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936485 ATAC-STARR-seq lymphoblastoid silent region 14207 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936486 ATAC-STARR-seq lymphoblastoid silent region 14212 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936487 ATAC-STARR-seq lymphoblastoid active region 19685 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936488 ATAC-STARR-seq lymphoblastoid active region 19686 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936489 ATAC-STARR-seq lymphoblastoid silent region 14214 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G LOC129936490 ATAC-STARR-seq lymphoblastoid silent region 14215 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532
G MIR26A1 microRNA 26a-1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,969,404...37,969,480
Ensembl chr 3:37,969,404...37,969,480 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28778945 NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G OXSR1 oxidative stress responsive kinase 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,164,063...38,255,484
Ensembl chr 3:38,165,089...38,255,484 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLCD1 phospholipase C delta 1 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 EXP
IAGP		 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: Brugada 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:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More... NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome		 CTD
ClinVar		 PMID:22155597 PMID:25741868 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome		 ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Brugada 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: Brugada syndrome, lidocaine-induced
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:235469 PMID:235504 PMID:256650 PMID:291807 PMID:461398 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SLC22A13 solute carrier family 22 member 13 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,265,812...38,278,757
Ensembl chr 3:38,265,812...38,278,757 		JBrowse link
G SLC22A14 solute carrier family 22 member 14 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,278,832...38,318,575
Ensembl chr 3:38,282,294...38,318,575 		JBrowse link
G SLMAP sarcolemma associated protein IAGP ClinVar Annotator: match by term: Brugada syndrome
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 chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:26220970 PMID:28492532 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP 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 chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTN titin IAGP 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:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)		 ClinVar PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G VILL villin like IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:37,987,978...38,007,185
Ensembl chr 3:37,988,059...38,007,188 		JBrowse link
G XYLB xylulokinase IAGP ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 3:38,346,785...38,453,041
Ensembl chr 3:38,346,760...38,421,348 		JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP 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 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G FBN1 fibrillin 1 IAGP 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 chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 More... NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP 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 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:25741868 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
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:1309946 PMID:10807545 PMID:11076825 PMID:11710892 PMID:11901046 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:24998131 PMID:25053638 PMID:25085921 PMID:25650408 PMID:25691538 More... NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 susceptibility IAGP
ISS		 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: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
OMIM:601144		 ClinVar
OMIM
MouseDO		 PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:545017 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
Brugada syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 3 ClinVar PMID:20817017 PMID:22581653 PMID:22584458 PMID:22840528 PMID:23677916 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G LINC02371 long intergenic non-protein coding RNA 2371 IAGP ClinVar Annotator: match by term: Brugada syndrome 3 ClinVar NCBI chr12:2,740,075...2,746,662
Ensembl chr12:2,740,032...2,746,665 		JBrowse link
G LOC130007181 ATAC-STARR-seq lymphoblastoid silent region 4129 IAGP ClinVar Annotator: match by term: Brugada syndrome 3 ClinVar NCBI chr12:2,691,617...2,691,886 JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 4
ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALKBH6 alkB homolog 6 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,009,120...36,014,239
Ensembl chr19:36,009,120...36,014,239 		JBrowse link
G APLP1 amyloid beta precursor like protein 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,868,574...35,879,792
Ensembl chr19:35,867,899...35,879,792 		JBrowse link
G ARHGAP33 Rho GTPase activating protein 33 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,775,564...35,788,822
Ensembl chr19:35,774,532...35,788,822 		JBrowse link
G ATP4A ATPase H+/K+ transporting subunit alpha IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658 		JBrowse link
G CAPNS1 calpain small subunit 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353 		JBrowse link
G CD22 CD22 molecule IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,329,187...35,347,361
Ensembl chr19:35,319,261...35,347,361 		JBrowse link
G CLIP3 CAP-Gly domain containing linker protein 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,014,660...36,032,873
Ensembl chr19:36,014,660...36,033,343 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G COX7A1 cytochrome c oxidase subunit 7A1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,150,922...36,152,447
Ensembl chr19:36,150,922...36,152,449 		JBrowse link
G DMKN dermokine IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,497,220...35,513,649
Ensembl chr19:35,497,220...35,513,658 		JBrowse link
G ETV2 ETS variant transcription factor 2 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871 		JBrowse link
G FAM187B family with sequence similarity 187 member B IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,224,800...35,228,739
Ensembl chr19:35,224,800...35,228,739 		JBrowse link
G FFAR1 free fatty acid receptor 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,347,902...35,353,864
Ensembl chr19:35,347,902...35,353,864 		JBrowse link
G FFAR2 free fatty acid receptor 2 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,448,257...35,451,767
Ensembl chr19:35,443,907...35,451,767 		JBrowse link
G FFAR3 free fatty acid receptor 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,358,151...35,360,489
Ensembl chr19:35,358,460...35,360,489 		JBrowse link
G FXYD1 FXYD domain containing ion transport regulator 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,137,188...35,143,109
Ensembl chr19:35,138,824...35,143,109 		JBrowse link
G FXYD3 FXYD domain containing ion transport regulator 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324 		JBrowse link
G FXYD5 FXYD domain containing ion transport regulator 5 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,154,735...35,169,881
Ensembl chr19:35,154,730...35,169,881 		JBrowse link
G FXYD7 FXYD domain containing ion transport regulator 7 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,143,255...35,154,302
Ensembl chr19:35,143,250...35,154,302 		JBrowse link
G GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319 		JBrowse link
G GPR42 G protein-coupled receptor 42 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,371,068...35,372,962
Ensembl chr19:35,371,068...35,372,962 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAUS5 HAUS augmin like complex subunit 5 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,612,735...35,625,355
Ensembl chr19:35,612,735...35,625,355 		JBrowse link
G HCST hematopoietic cell signal transducer IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,902,529...35,904,377
Ensembl chr19:35,902,529...35,904,377 		JBrowse link
G HPN hepsin IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,040,506...35,066,573
Ensembl chr19:35,040,506...35,066,573 		JBrowse link
G HSPB6 heat shock protein family B (small) member 6 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,754,566...35,757,029
Ensembl chr19:35,754,566...35,758,079 		JBrowse link
G IGFLR1 IGF like family receptor 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,738,801...35,742,452
Ensembl chr19:35,738,801...35,742,453 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G KMT2B lysine methyltransferase 2B IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880 		JBrowse link
G KRTDAP keratinocyte differentiation associated protein IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,487,324...35,490,464
Ensembl chr19:35,487,324...35,495,558 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIN37 lin-37 DREAM MuvB core complex component IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,748,576...35,754,519
Ensembl chr19:35,748,361...35,754,519 		JBrowse link
G LRFN3 leucine rich repeat and fibronectin type III domain containing 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,936,374...35,946,624
Ensembl chr19:35,935,358...35,946,624 		JBrowse link
G LSR lipolysis stimulated lipoprotein receptor IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964 		JBrowse link
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807 		JBrowse link
G NFKBID NFKB inhibitor delta IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,887,952...35,902,303
Ensembl chr19:35,887,653...35,902,303 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G OVOL3 ovo like zinc finger 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,111,143...36,113,711
Ensembl chr19:36,111,143...36,113,711 		JBrowse link
G POLR2I RNA polymerase II subunit I IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,113,709...36,114,875
Ensembl chr19:36,113,709...36,115,213 		JBrowse link
G PRODH2 proline dehydrogenase 2 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,799,988...35,812,845
Ensembl chr19:35,799,988...35,813,299 		JBrowse link
G PROSER3 proline and serine rich 3 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,758,176...35,771,166
Ensembl chr19:35,758,143...35,771,166 		JBrowse link
G PSENEN presenilin enhancer, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519 		JBrowse link
G RBM42 RNA binding motif protein 42 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,629,036...35,637,685
Ensembl chr19:35,629,030...35,637,686 		JBrowse link
G SBSN suprabasin IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,523,367...35,528,311
Ensembl chr19:35,523,367...35,528,351 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP
EXP		 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 chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813 		JBrowse link
G TBCB tubulin folding cofactor B IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,114,967...36,125,941
Ensembl chr19:36,114,289...36,125,947 		JBrowse link
G THAP8 THAP domain containing 8 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,034,984...36,054,762
Ensembl chr19:36,034,984...36,054,739 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G U2AF1L4 U2 small nuclear RNA auxiliary factor 1 like 4 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,742,464...35,745,418
Ensembl chr19:35,742,464...35,745,445 		JBrowse link
G UPK1A uroplakin 1A IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,666,517...35,678,481
Ensembl chr19:35,666,517...35,678,481 		JBrowse link
G USF2 upstream transcription factor 2, c-fos interacting IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,268,962...35,279,821
Ensembl chr19:35,268,962...35,279,821 		JBrowse link
G WDR62 WD repeat domain 62 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G ZBTB32 zinc finger and BTB domain containing 32 IAGP ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr19:35,704,558...35,717,038
Ensembl chr19:35,704,558...35,717,038 		JBrowse link
Brugada syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Brugada syndrome 7
ClinVar Annotator: match by term: Atrial fibrillation, familial, 16
OMIM:613120
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20031595 PMID:20042427 More... NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
Brugada syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADPGK ADP dependent glucokinase IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,751,294...72,783,758
Ensembl chr15:72,751,294...72,785,846 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,474,330...72,602,987
Ensembl chr15:72,474,330...72,602,987 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475 		JBrowse link
G GOLGA6B golgin A6 family member B IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,654,697...72,669,599
Ensembl chr15:72,654,697...72,669,599 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 8
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:12750403 PMID:15123648 PMID:16199547 PMID:17576681 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HEXA hexosaminidase subunit alpha IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420 		JBrowse link
G LOC105370890 uncharacterized LOC105370890 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:9536098 PMID:17576681 PMID:19165230 PMID:25741868 PMID:26688388 More... NCBI chr15:73,335,260...73,345,184
Ensembl chr15:73,335,260...73,342,387 		JBrowse link
G LOC126862173 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:25741868 PMID:26688388 PMID:28492532 PMID:30196304 PMID:30471092 More... NCBI chr15:73,343,421...73,344,620 JBrowse link
G NEO1 neogenin 1 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205 		JBrowse link
G TMEM202 transmembrane protein 202 IAGP ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:72,398,305...72,408,367
Ensembl chr15:72,398,302...72,408,367 		JBrowse link
Brugada syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP
EXP		 ClinVar Annotator: match by term: Brugada syndrome 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21349352 PMID:21640846 PMID:21703448 PMID:22284586 PMID:22336521 More... NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27114410 PMID:28492532 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,700,021...115,768,884 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 More... NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:9323054 PMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:19926015 PMID:23861362 PMID:24025405 PMID:24033266 PMID:25741868 More... NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:23396983 PMID:24981977 PMID:25351510 PMID:25741868 PMID:26220970 More... NCBI chr 4:113,355,404...113,356,603 JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:9536098 PMID:15519027 PMID:16858239 PMID:17576681 PMID:18273486 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:29343803 PMID:36923113 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 PMID:23861362 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:2030070 PMID:11748104 PMID:12574143 PMID:14523039 PMID:16922724 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FPGT-TNNI3K FPGT-TNNI3K readthrough IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition		 ClinVar PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 1:74,198,242...74,544,428
Ensembl chr 1:74,198,235...74,544,393 		JBrowse link
G LMNA lamin A/C IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRRC53 leucine rich repeat containing 53 IAGP ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy
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 1:74,469,376...74,537,079
Ensembl chr 1:74,469,376...74,512,611 		JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP
EXP		 ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428 		JBrowse link
Sudden Unexpected Nocturnal Death Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 PMID:30847666 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:22581653 PMID:22840528 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CACNA2D1-AS1 CACNA2D1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr 7:82,009,177...82,029,955
Ensembl chr 7:82,009,177...82,029,955 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,338...7,586,714 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HRC histidine rich calcium binding protein IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:28492532 More... NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30847666 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More... NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:10807545 PMID:11076825 PMID:11710892 PMID:11901046 PMID:12193783 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121288 VISTA enhancer hs2268 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25691538 PMID:25741868 PMID:25998140 PMID:26220970 PMID:26733327 More... NCBI chr 3:38,722,136...38,726,916 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 NCBI chr 4:113,355,404...113,356,603 JBrowse link
G LOC129936414 ATAC-STARR-seq lymphoblastoid silent region 14165 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:16199547 PMID:28492532
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More... NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:2380016 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		JBrowse link
G SLMAP sarcolemma associated protein IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003 		JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:26220970 PMID:28492532 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More... NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Brugada syndrome 178
        Brugada syndrome 1 9
        Brugada syndrome 2 1
        Brugada syndrome 3 4
        Brugada syndrome 4 1
        Brugada syndrome 5 56
        Brugada syndrome 6 2
        Brugada syndrome 7 1
        Brugada syndrome 8 10
        Brugada syndrome 9 2
        Cardiac Conduction Defect + 24
        Sudden Unexpected Nocturnal Death Syndrome 38
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            Brugada syndrome 178
              Brugada syndrome 1 9
              Brugada syndrome 2 1
              Brugada syndrome 3 4
              Brugada syndrome 4 1
              Brugada syndrome 5 56
              Brugada syndrome 6 2
              Brugada syndrome 7 1
              Brugada syndrome 8 10
              Brugada syndrome 9 2
              Cardiac Conduction Defect + 24
              Sudden Unexpected Nocturnal Death Syndrome 38
paths to the root