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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:Cardiac Arrhythmias
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Accession:DOID:9000064 term browser browse the term
Definition:Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.
Synonyms:exact_synonym: Arrhythmia;   Arrythmia;   Cardiac Arrhythmia;   Cardiac Dysrhythmia
 primary_id: MESH:D001145
 alt_id: OMIM:115000;   RDO:0002414
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Cardiac Arrhythmias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO associated with Kidney Failure, Chronic;DNA:insertion/deletion
CTD Direct Evidence: marker/mechanism
CTD PMID:15331425, PMID:16105049 RGD:8548864 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adm adrenomedullin IDA associated with Myocardial Ischemia RGD PMID:16715121 RGD:1625318 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1654493 PMID:2535056 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human RGD PMID:16105049 RGD:8548864 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
ClinVar Annotator: match by synonym: Cardiac arrhythmia
ClinVar PMID:11334825 PMID:15075330 PMID:15178757 PMID:15970537 PMID:16253912 PMID:16650839 PMID:17161064 PMID:17242276 PMID:17261669 PMID:17928548 PMID:17940615 PMID:18782775 PMID:19394342 PMID:19862833 PMID:22411828 PMID:22581653 PMID:22995991 PMID:23174487 PMID:23396983 PMID:23631430 PMID:23861362 PMID:24025405 PMID:25333069 PMID:25351510 PMID:25741868 PMID:26159999 PMID:26168218 PMID:27435932 PMID:28074886 PMID:28492532 PMID:30615648, PMID:12571597 RGD:734572 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES ClinVar NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6983645 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Cardiac arrhythmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15454078 PMID:24690944 PMID:25741868 PMID:27218670 PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 IMP RGD PMID:28469787 RGD:13513983 NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362 PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Cd36 CD36 molecule severity IMP RGD PMID:22128087 RGD:6893560 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:11739301 RGD:9495908 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:16061754 PMID:16917092 PMID:20716751 PMID:24033266 PMID:24503780 PMID:25525159 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28527814 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12011762 PMID:15838369 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22166976 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B IEP associated with Myocardial Infarction RGD PMID:18570278 RGD:2302073 NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:18003637 PMID:18077386, PMID:23951191 RGD:8662422 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gnai2 G protein subunit alpha i2 treatment IDA associated with Myocardial Reperfusion Injury RGD PMID:11941407 RGD:13508594 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Gyg1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9806222 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Itga2 integrin subunit alpha 2 no_association ISO RGD PMID:10822074 RGD:1582305 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 IEP
ISO
associated with Myocardial Infarction
ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar PMID:20381460, PMID:14561835 RGD:7242918, RGD:12910697 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 IEP
ISO
associated with Myocardial Infarction
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:10219239 PMID:10973849 PMID:10984545 PMID:11034315 PMID:11101505 PMID:14760488 PMID:16922724 PMID:19219384 PMID:19716085 PMID:19841298 PMID:19863579 PMID:20042375 PMID:22378279 PMID:22581653 PMID:23098067 PMID:23382499 PMID:23861362 PMID:24055113 PMID:24144883 PMID:24606995 PMID:24631775 PMID:25333069 PMID:25637381 PMID:25741868 PMID:26159999 PMID:26284702 PMID:27884173 PMID:28341588 PMID:28492532 PMID:28794082, PMID:20381460 RGD:7242918 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2294929 PMID:9536098 PMID:9927399 PMID:10187793 PMID:10483966 PMID:10807545 PMID:10862094 PMID:10973849 PMID:11278781 PMID:11334843 PMID:11468227 PMID:11668641 PMID:11741928 PMID:11854117 PMID:11997281 PMID:12175777 PMID:12402336 PMID:12775564 PMID:12808265 PMID:12829173 PMID:14661677 PMID:14678746 PMID:14760488 PMID:14975928 PMID:15051636 PMID:15090700 PMID:15176425 PMID:15522280 PMID:15572050 PMID:15599693 PMID:15673388 PMID:15746444 PMID:15840476 PMID:15913580 PMID:16043162 PMID:16116052 PMID:16132053 PMID:16244680 PMID:16253915 PMID:16414944 PMID:16432067 PMID:16487223 PMID:16720674 PMID:16831322 PMID:16922724 PMID:17060380 PMID:17088455 PMID:17161064 PMID:17210839 PMID:17224687 PMID:17275752 PMID:17531263 PMID:17576681 PMID:17576861 PMID:17597962 PMID:18060054 PMID:18222468 PMID:18222980 PMID:18250272 PMID:18426444 PMID:18596570 PMID:18675227 PMID:18752142 PMID:18776039 PMID:18808722 PMID:19019189 PMID:19184172 PMID:19305409 PMID:19322600 PMID:19490267 PMID:19490382 PMID:19673885 PMID:19695459 PMID:19716085 PMID:19804510 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19926013 PMID:20167303 PMID:20181576 PMID:20486126 PMID:20541041 PMID:20659946 PMID:20674198 PMID:20876384 PMID:21063070 PMID:21109023 PMID:21185501 PMID:21215473 PMID:21410720 PMID:21419236 PMID:21536673 PMID:21779290 PMID:22245016 PMID:22359612 PMID:22378279 PMID:22396785 PMID:22402074 PMID:22402334 PMID:22429796 PMID:22581653 PMID:22653970 PMID:22677073 PMID:22949429 PMID:22995991 PMID:23098067 PMID:23139254 PMID:23158531 PMID:23174487 PMID:23303164 PMID:23304551 PMID:23338923 PMID:23347029 PMID:23465283 PMID:23631430 PMID:23861362 PMID:23935525 PMID:23936059 PMID:24021552 PMID:24033266 PMID:24055113 PMID:24057343 PMID:24217263 PMID:24223155 PMID:24334129 PMID:24363352 PMID:24388587 PMID:24530480 PMID:24596401 PMID:24606995 PMID:24631775 PMID:24667783 PMID:25028483 PMID:25348405 PMID:25351510 PMID:25417810 PMID:25447171 PMID:25626866 PMID:25637381 PMID:25649125 PMID:25741868 PMID:25967940 PMID:26063740 PMID:26066609 PMID:26129877 PMID:26159999 PMID:26164358 PMID:26187847 PMID:26213684 PMID:26332594 PMID:26383259 PMID:26467025 PMID:26669661 PMID:26704558 PMID:26715165 PMID:26743238 PMID:26746457 PMID:26937405 PMID:26958806 PMID:26986070 PMID:27000522 PMID:27026747 PMID:27041096 PMID:27153395 PMID:27231019 PMID:27816319 PMID:27920829 PMID:27930701 PMID:28049825 PMID:28166811 PMID:28302345 PMID:28360401 PMID:28431243 PMID:28449774 PMID:28472724 PMID:28492532 PMID:28566242 PMID:28606196 PMID:28704380 PMID:28861002 PMID:28988457 PMID:29247119 PMID:29622001 PMID:29727688 PMID:29752375 PMID:29759541 PMID:29766885 PMID:29884292 PMID:30086531 PMID:30246897 PMID:30276209 PMID:30369311 PMID:30704477 PMID:30758498 PMID:30847666 PMID:30996762 PMID:31358886 PMID:31557540 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnip2 potassium voltage-gated channel interacting protein 2 ISO RGD PMID:11747815 RGD:737786 NCBI chr 1:265,549,610...265,573,393
Ensembl chr 1:265,549,593...265,573,409
Ensembl chr 1:265,549,593...265,573,409
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
CTD
ClinVar
PMID:17324964 PMID:17341397 PMID:17399643 PMID:17546530 PMID:22581653 PMID:22589293 PMID:24383070 PMID:25741868 PMID:27145478 PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Cardiac arrhythmias
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:2294929 PMID:8528244 PMID:9312006 PMID:9323054 PMID:9386136 PMID:9482580 PMID:9536098 PMID:9641694 PMID:9693036 PMID:9799083 PMID:9927399 PMID:10024302 PMID:10090886 PMID:10376919 PMID:10409658 PMID:10482963 PMID:10483966 PMID:10560595 PMID:10704188 PMID:10728423 PMID:10737999 PMID:10807545 PMID:10973849 PMID:11021476 PMID:11087258 PMID:11140949 PMID:11216980 PMID:11530100 PMID:11668638 PMID:11761407 PMID:11799244 PMID:11997281 PMID:12402336 PMID:12442276 PMID:12477631 PMID:12522251 PMID:12566525 PMID:12690509 PMID:12702160 PMID:12736279 PMID:12877697 PMID:14510661 PMID:14531214 PMID:14661676 PMID:14661677 PMID:14678125 PMID:14731347 PMID:14760488 PMID:14998624 PMID:15028050 PMID:15051636 PMID:15140888 PMID:15176425 PMID:15192825 PMID:15234419 PMID:15242738 PMID:15466642 PMID:15500450 PMID:15528464 PMID:15547041 PMID:15746441 PMID:15781747 PMID:15840476 PMID:15851171 PMID:15913580 PMID:15935335 PMID:16038262 PMID:16132053 PMID:16155735 PMID:16414944 PMID:16487223 PMID:16556865 PMID:16556866 PMID:16564513 PMID:16623272 PMID:16922724 PMID:16981927 PMID:16987820 PMID:17016049 PMID:17091796 PMID:17161064 PMID:17192539 PMID:17210839 PMID:17222736 PMID:17227916 PMID:17329207 PMID:17329209 PMID:17467628 PMID:17470695 PMID:17576681 PMID:17597962 PMID:17905336 PMID:17999538 PMID:18165683 PMID:18174212 PMID:18222468 PMID:18426444 PMID:18611041 PMID:18752142 PMID:19160088 PMID:19198868 PMID:19261104 PMID:19490272 PMID:19590188 PMID:19716085 PMID:19808498 PMID:19815527 PMID:19825999 PMID:19841298 PMID:19841300 PMID:19843919 PMID:19862833 PMID:19934648 PMID:20138589 PMID:20186784 PMID:20226272 PMID:20368164 PMID:20421371 PMID:20486126 PMID:20659946 PMID:20660394 PMID:20851114 PMID:20981092 PMID:21063070 PMID:21131640 PMID:21185501 PMID:21215473 PMID:21350584 PMID:21451124 PMID:21576493 PMID:21778721 PMID:21779290 PMID:21952006 PMID:21956039 PMID:22095730 PMID:22199116 PMID:22309168 PMID:22378279 PMID:22429796 PMID:22456477 PMID:22539601 PMID:22581653 PMID:22629021 PMID:22677073 PMID:22727609 PMID:22947121 PMID:22949429 PMID:22956155 PMID:23075154 PMID:23098067 PMID:23130128 PMID:23158531 PMID:23174487 PMID:23251633 PMID:23304551 PMID:23392653 PMID:23396983 PMID:23465283 PMID:23571586 PMID:23631430 PMID:23710137 PMID:23861362 PMID:23861489 PMID:23890619 PMID:23995044 PMID:24033266 PMID:24052033 PMID:24055113 PMID:24190995 PMID:24223155 PMID:24284363 PMID:24291113 PMID:24357532 PMID:24363352 PMID:24372464 PMID:24388587 PMID:24552659 PMID:24606995 PMID:24667783 PMID:24681627 PMID:24721657 PMID:24762593 PMID:24912595 PMID:24920132 PMID:24947509 PMID:25037568 PMID:25163546 PMID:25187895 PMID:25236808 PMID:25294783 PMID:25344363 PMID:25348405 PMID:25351510 PMID:25447171 PMID:25559286 PMID:25608792 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25705178 PMID:25741868 PMID:25845942 PMID:25854863 PMID:25935074 PMID:25985138 PMID:26019114 PMID:26077850 PMID:26118460 PMID:26159999 PMID:26228265 PMID:26318259 PMID:26332594 PMID:26346102 PMID:26385840 PMID:26467025 PMID:26498160 PMID:26546361 PMID:26669661 PMID:26675252 PMID:26704558 PMID:26715165 PMID:27026747 PMID:27041150 PMID:27159321 PMID:27251404 PMID:27311732 PMID:27451284 PMID:27485560 PMID:27650965 PMID:27761162 PMID:27807201 PMID:27816319 PMID:27831900 PMID:27884173 PMID:27917693 PMID:27920829 PMID:28166811 PMID:28438721 PMID:28449774 PMID:28491751 PMID:28492532 PMID:28600177 PMID:28619993 PMID:28704380 PMID:28720088 PMID:28794082 PMID:28798025 PMID:28944242 PMID:28988457 PMID:29021305 PMID:29197658 PMID:29247119 PMID:29330128 PMID:29379719 PMID:29532034 PMID:29544605 PMID:29622001 PMID:29740400 PMID:29876285 PMID:29952348 PMID:30302399 PMID:30571187 PMID:30615648 PMID:30758498 PMID:31337358 PMID:31565860 PMID:31696929 PMID:31899541 PMID:32238909 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: therapeutic CTD PMID:2535056 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Lig3 DNA ligase 3 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES ClinVar NCBI chr10:70,134,734...70,158,051
Ensembl chr10:70,134,729...70,158,055
JBrowse link
G Lmna lamin A/C ISO RGD PMID:18182166 RGD:2306092 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO RGD PMID:21454599 RGD:7495828 NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr13:82,607,844...82,737,383
Ensembl chr13:82,626,685...82,737,343
JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr13:88,653,123...88,943,976 JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:17460430 PMID:25741868 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362 PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Oprd1 opioid receptor, delta 1 IDA RGD PMID:10900218 RGD:2316592 NCBI chr 5:150,288,126...150,323,063
Ensembl chr 5:150,288,126...150,323,063
JBrowse link
G Oprk1 opioid receptor, kappa 1 IEP
ISO
CTD Direct Evidence: therapeutic CTD PMID:16995444, PMID:15076225 RGD:9831425 NCBI chr 5:13,742,655...13,760,460
Ensembl chr 5:13,744,658...13,760,305
JBrowse link
G Oprl1 opioid related nociceptin receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16995444 NCBI chr 3:177,223,779...177,231,663
Ensembl chr 3:177,225,737...177,231,663
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:15489853 PMID:16549640 PMID:16567567 PMID:17010805 PMID:19084810 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20197793 PMID:20829228 PMID:20857253 PMID:21301620 PMID:21606396 PMID:21723241 PMID:22177269 PMID:23178689 PMID:23354045 PMID:23810883 PMID:23871674 PMID:23889974 PMID:24033266 PMID:24704780 PMID:24768880 PMID:25741868 PMID:25765472 PMID:25820315 PMID:25971409 PMID:27532257 PMID:28097316 PMID:28341588 PMID:28492532 PMID:28588093 PMID:29221435 PMID:30562116 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Ppp1r1a protein phosphatase 1, regulatory (inhibitor) subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr 7:145,146,480...145,154,131
Ensembl chr 7:145,146,481...145,154,131
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19376970 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:9536098 PMID:17576681 PMID:21447824 PMID:22010171 PMID:25741868 PMID:26903377 PMID:28166811 PMID:28492532 PMID:30282806 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:17525370 RGD:2311702 NCBI chr19:561,696...564,929
Ensembl chr19:561,727...564,930
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362 PMID:24033266 PMID:28492532 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:27435932 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
ClinVar PMID:2107088 PMID:2380016 PMID:8661019 PMID:8972392 PMID:9521325 PMID:9536098 PMID:10508990 PMID:10532948 PMID:10618304 PMID:10690282 PMID:10711933 PMID:10727653 PMID:10807545 PMID:10940383 PMID:10961955 PMID:10966831 PMID:10973849 PMID:11013131 PMID:11029409 PMID:11076825 PMID:11123251 PMID:11274952 PMID:11304498 PMID:11463728 PMID:11710892 PMID:11804990 PMID:11807557 PMID:11823453 PMID:11827685 PMID:11901046 PMID:11960580 PMID:11997281 PMID:12106943 PMID:12193783 PMID:12354768 PMID:12471205 PMID:12566525 PMID:12569159 PMID:12574143 PMID:12639704 PMID:12650879 PMID:12673799 PMID:12820704 PMID:12898257 PMID:14500339 PMID:14523039 PMID:14687250 PMID:14753626 PMID:14760488 PMID:14961552 PMID:14967853 PMID:14985827 PMID:14998624 PMID:15028074 PMID:15047701 PMID:15121794 PMID:15161528 PMID:15176425 PMID:15277732 PMID:15466642 PMID:15520322 PMID:15556047 PMID:15579534 PMID:15599693 PMID:15671429 PMID:15689442 PMID:15840476 PMID:15840483 PMID:15851227 PMID:15851228 PMID:15851440 PMID:15992732 PMID:15996170 PMID:15998675 PMID:16061744 PMID:16132053 PMID:16155735 PMID:16239976 PMID:16267250 PMID:16267253 PMID:16325048 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16453014 PMID:16453024 PMID:16521247 PMID:16540748 PMID:16568155 PMID:16611632 PMID:16707561 PMID:16712702 PMID:16731473 PMID:16764707 PMID:16922724 PMID:17075016 PMID:17081365 PMID:17088455 PMID:17141278 PMID:17161064 PMID:17185997 PMID:17210839 PMID:17210841 PMID:17227473 PMID:17275750 PMID:17331104 PMID:17368591 PMID:17438607 PMID:17438610 PMID:17442746 PMID:17504259 PMID:17512504 PMID:17576681 PMID:17587741 PMID:17605181 PMID:17646591 PMID:17675083 PMID:17697823 PMID:17854786 PMID:17892895 PMID:17905336 PMID:17908752 PMID:17967976 PMID:17993325 PMID:18048769 PMID:18071069 PMID:18088563 PMID:18093912 PMID:18156160 PMID:18180363 PMID:18245395 PMID:18361072 PMID:18362431 PMID:18368697 PMID:18378609 PMID:18426444 PMID:18436145 PMID:18451998 PMID:18452873 PMID:18452875 PMID:18456723 PMID:18508782 PMID:18596570 PMID:18599870 PMID:18708744 PMID:18752142 PMID:18752973 PMID:18848812 PMID:18849657 PMID:18976777 PMID:18984535 PMID:19026623 PMID:19027780 PMID:19056759 PMID:19083750 PMID:19167345 PMID:19251209 PMID:19272188 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19322600 PMID:19406494 PMID:19412328 PMID:19561025 PMID:19564561 PMID:19597050 PMID:19606473 PMID:19632629 PMID:19648062 PMID:19666841 PMID:19706159 PMID:19716085 PMID:19799913 PMID:19808398 PMID:19808477 PMID:19841298 PMID:19841300 PMID:19843921 PMID:19862833 PMID:19957170 PMID:19996378 PMID:20031634 PMID:20102864 PMID:20110800 PMID:20123697 PMID:20129283 PMID:20137763 PMID:20384651 PMID:20403459 PMID:20448214 PMID:20458009 PMID:20470418 PMID:20486126 PMID:20539757 PMID:20564468 PMID:20609320 PMID:20636320 PMID:20812931 PMID:20875080 PMID:20877689 PMID:20981092 PMID:21051419 PMID:21070882 PMID:21109022 PMID:21126620 PMID:21143119 PMID:21167004 PMID:21167176 PMID:21185501 PMID:21273195 PMID:21306642 PMID:21321465 PMID:21325150 PMID:21385947 PMID:21410720 PMID:21498565 PMID:21596231 PMID:21621375 PMID:21622575 PMID:21705349 PMID:21726068 PMID:21840964 PMID:21908450 PMID:22028457 PMID:22064211 PMID:22216297 PMID:22247482 PMID:22331908 PMID:22337857 PMID:22338672 PMID:22360817 PMID:22373669 PMID:22378279 PMID:22402334 PMID:22407026 PMID:22426227 PMID:22490985 PMID:22519808 PMID:22581653 PMID:22675453 PMID:22677073 PMID:22682427 PMID:22685113 PMID:22705208 PMID:22789973 PMID:22795782 PMID:22840528 PMID:22885917 PMID:22899775 PMID:22984773 PMID:22995991 PMID:23008441 PMID:23091201 PMID:23098067 PMID:23139254 PMID:23158531 PMID:23168001 PMID:23174487 PMID:23237912 PMID:23293604 PMID:23299917 PMID:23321620 PMID:23382499 PMID:23414114 PMID:23424222 PMID:23425522 PMID:23465283 PMID:23503384 PMID:23571586 PMID:23631430 PMID:23671135 PMID:23692053 PMID:23714088 PMID:23785128 PMID:23805106 PMID:23838598 PMID:23853484 PMID:23861362 PMID:23874304 PMID:23936059 PMID:23963187 PMID:24033266 PMID:24055113 PMID:24059039 PMID:24136861 PMID:24144883 PMID:24223155 PMID:24295898 PMID:24317018 PMID:24332150 PMID:24349418 PMID:24388587 PMID:24400668 PMID:24463578 PMID:24524602 PMID:24529773 PMID:24573164 PMID:24606995 PMID:24613995 PMID:24631775 PMID:24653702 PMID:24667783 PMID:24681144 PMID:24713084 PMID:24721456 PMID:24721642 PMID:24736382 PMID:24762593 PMID:24762805 PMID:24784157 PMID:24795344 PMID:24815523 PMID:24892747 PMID:24951663 PMID:24963427 PMID:24981977 PMID:25051102 PMID:25065297 PMID:25102755 PMID:25119684 PMID:25163546 PMID:25171853 PMID:25172307 PMID:25194972 PMID:25210526 PMID:25326637 PMID:25344691 PMID:25348405 PMID:25351510 PMID:25370050 PMID:25410959 PMID:25460174 PMID:25554238 PMID:25616976 PMID:25624448 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25741868 PMID:25748040 PMID:25757662 PMID:25815641 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26022185 PMID:26066609 PMID:26111534 PMID:26129877 PMID:26131924 PMID:26132555 PMID:26159999 PMID:26164358 PMID:26173111 PMID:26189708 PMID:26209461 PMID:26213684 PMID:26220391 PMID:26304136 PMID:26332594 PMID:26406308 PMID:26423924 PMID:26467025 PMID:26538325 PMID:26633542 PMID:26636822 PMID:26656175 PMID:26669661 PMID:26713557 PMID:26733869 PMID:26743238 PMID:26746457 PMID:26749013 PMID:26798387 PMID:26801742 PMID:26822237 PMID:26884609 PMID:26916278 PMID:27041150 PMID:27066507 PMID:27077130 PMID:27153395 PMID:27281089 PMID:27287068 PMID:27321809 PMID:27332903 PMID:27381756 PMID:27435932 PMID:27485560 PMID:27532257 PMID:27554632 PMID:27566755 PMID:27668095 PMID:27676163 PMID:27707468 PMID:27711072 PMID:27816319 PMID:27834932 PMID:27896284 PMID:27930701 PMID:28018021 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28087622 PMID:28150151 PMID:28166811 PMID:28183570 PMID:28202948 PMID:28265756 PMID:28301460 PMID:28323875 PMID:28341588 PMID:28341781 PMID:28359509 PMID:28391114 PMID:28412158 PMID:28416588 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28549997 PMID:28567303 PMID:28573431 PMID:28600387 PMID:28638671 PMID:28725320 PMID:28734073 PMID:28779003 PMID:28781330 PMID:28794082 PMID:28798025 PMID:28807990 PMID:28831623 PMID:28834665 PMID:28837624 PMID:28878402 PMID:28988457 PMID:29016939 PMID:29032884 PMID:29121719 PMID:29167113 PMID:29202755 PMID:29247119 PMID:29306897 PMID:29331327 PMID:29431662 PMID:29447731 PMID:29449639 PMID:29449963 PMID:29517769 PMID:29540472 PMID:29540853 PMID:29574140 PMID:29672598 PMID:29709101 PMID:29728395 PMID:29759522 PMID:29759671 PMID:29764897 PMID:29773157 PMID:29790872 PMID:29874177 PMID:29884292 PMID:29915097 PMID:29997009 PMID:29998127 PMID:30059973 PMID:30079003 PMID:30084490 PMID:30086531 PMID:30146492 PMID:30153324 PMID:30165862 PMID:30193851 PMID:30244407 PMID:30254039 PMID:30364184 PMID:30419068 PMID:30662450 PMID:30690642 PMID:30847666 PMID:31019283 PMID:31043699 PMID:31262209 PMID:31333075 PMID:31337358 PMID:31397097 PMID:31453232 PMID:31568572 PMID:31680123 PMID:31737537 PMID:31751991 PMID:31866066 PMID:32009526 PMID:32048431 PMID:32431610 PMID:32449611 PMID:32470535 PMID:32533946 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sgo1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25282101 NCBI chr 9:4,420,158...4,435,939
Ensembl chr 9:4,421,069...4,436,601
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:9536098 PMID:17576681 PMID:21447824 PMID:22010171 PMID:25741868 PMID:26903377 PMID:28166811 PMID:28492532 PMID:30282806 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082
JBrowse link
G Sod2 superoxide dismutase 2 IDA RGD PMID:15454275 RGD:1581234 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868 PMID:26805781 PMID:26805782 PMID:29369572 PMID:32576985 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6813757 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:170390
OMIM
ClinVar
CTD
PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 PMID:12148092 PMID:12163457 PMID:12689820 PMID:12796536 PMID:12909315 PMID:14522976 PMID:15757667 PMID:15831539 PMID:15851159 PMID:15852530 PMID:15911703 PMID:15922306 PMID:16217063 PMID:16419128 PMID:16533896 PMID:16541386 PMID:16571646 PMID:16818210 PMID:16834334 PMID:17074642 PMID:17074643 PMID:17119796 PMID:17211524 PMID:17221872 PMID:17324964 PMID:17341397 PMID:17399642 PMID:17399643 PMID:17568571 PMID:17582433 PMID:17655675 PMID:18313615 PMID:18452873 PMID:18554214 PMID:19041665 PMID:19111761 PMID:19201608 PMID:19570891 PMID:19931173 PMID:20382953 PMID:20647529 PMID:20713726 PMID:21493816 PMID:22002906 PMID:22186697 PMID:22286118 PMID:22581653 PMID:22589293 PMID:22806368 PMID:23516313 PMID:23595086 PMID:23631430 PMID:23644778 PMID:23867365 PMID:24025405 PMID:24033266 PMID:24047492 PMID:24211314 PMID:24383070 PMID:24561538 PMID:24721648 PMID:24861851 PMID:25284084 PMID:25410959 PMID:25415519 PMID:25741868 PMID:25847018 PMID:26230511 PMID:26322597 PMID:26467025 PMID:26937109 PMID:27145478 PMID:27920829 PMID:28003625 PMID:28024840 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28501311 PMID:29017447 PMID:29874177 PMID:29915097 PMID:30516834 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25741868 PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
ankyrin-B-related cardiac arrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related
ClinVar Annotator: match by term: ANKYRIN-B SYNDROME
ClinVar Annotator: match by OMIM:600919
OMIM
ClinVar
PMID:7485162 PMID:11334825 PMID:12571597 PMID:15075330 PMID:15178757 PMID:15970537 PMID:16253912 PMID:16650839 PMID:16864073 PMID:17161064 PMID:17242276 PMID:17261669 PMID:17928548 PMID:17940615 PMID:18782775 PMID:18832177 PMID:19394342 PMID:19862833 PMID:22411828 PMID:22581653 PMID:22995991 PMID:23174487 PMID:23396983 PMID:23631430 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24448499 PMID:25333069 PMID:25351510 PMID:25649125 PMID:25650408 PMID:25741868 PMID:26159999 PMID:26164358 PMID:26168218 PMID:26230511 PMID:26350513 PMID:27110552 PMID:27391121 PMID:27435932 PMID:27784853 PMID:27854218 PMID:27875062 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28600387 PMID:28736713 PMID:28750076 PMID:29198934 PMID:29247119 PMID:29431110 PMID:29790872 PMID:29874177 PMID:30615648 PMID:30821013 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15331425, PMID:23170137, PMID:19648063 RGD:7829797, RGD:8142351 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agbl4 AGBL carboxypeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:130,742,297...131,656,581
Ensembl chr 5:131,380,297...131,455,211
Ensembl chr 5:131,380,297...131,455,211
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 onset ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
ClinVar
PMID:17161064 PMID:21859974 PMID:23861362 PMID:24448499 PMID:25649125 PMID:25741868 PMID:26159999 PMID:28492532, PMID:21859974 RGD:6767284, RGD:6767284 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Arhgap10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr19:34,138,978...34,406,593
Ensembl chr19:34,139,997...34,402,436
JBrowse link
G Armh3 armadillo-like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:265,574,715...265,757,254
Ensembl chr 1:265,575,448...265,757,389
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 1:146,399,217...146,556,437
Ensembl chr 1:146,399,217...146,556,171
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Best3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:59,971,084...60,057,162
Ensembl chr 7:60,015,998...60,057,152
JBrowse link
G Calu calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:56,625,611...56,653,112
Ensembl chr 4:56,625,561...56,653,111
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs4642101 (human)
CTD PMID:29892015 PMID:30061737, PMID:29459676 RGD:18899563 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Casz1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:165,625,119...165,777,053
Ensembl chr 5:165,724,027...165,774,616
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:22544366 PMID:29892015 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638
JBrowse link
G Cd36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism
CTD PMID:29892015, PMID:16043935 RGD:8662360 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cep68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr14:104,501,759...104,523,330
Ensembl chr14:104,505,319...104,523,297
JBrowse link
G Cfl2 cofilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:83,390,782...83,840,356
Ensembl chr 4:83,391,283...83,836,351
JBrowse link
G Crp C-reactive protein disease_progression ISO associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: RGD PMID:18811807, PMID:19645035 RGD:9491838, RGD:9491839 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:81,718,784...81,756,653
Ensembl chr16:81,719,028...81,756,654
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyth1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:107,197,983...107,281,285
Ensembl chr10:107,197,989...107,281,235
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dgkb diacylglycerol kinase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:57,516,351...58,277,385
Ensembl chr 6:57,516,713...58,277,279
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:37,237,482...37,365,258 JBrowse link
G Dpf3 double PHD fingers 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:106,660,569...106,971,310
Ensembl chr 6:106,721,349...106,971,250
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16762801, PMID:22669310 RGD:8661797 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Epha3 Eph receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:421,253...783,037
Ensembl chr11:421,135...782,954
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:52,289,979...52,378,726
Ensembl chr12:52,356,832...52,377,475
JBrowse link
G Fbxo32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:98,065,664...98,098,071
Ensembl chr 7:98,063,735...98,098,268
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:12,974,921...12,996,046
Ensembl chr14:12,974,921...12,995,584
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Frmd4b FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:129,658,137...129,984,735
Ensembl chr 4:129,658,840...129,846,642
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gja1 gap junction protein, alpha 1 susceptibility IEP
ISO
protein:increased localization:lateral plasma membrane, cardiac muscle cell
DNA:mutation:cds:p.G60S(mouse)
protein:decreased expression:myocardium of atrium
associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium
RGD PMID:11527649, PMID:21239638, PMID:12062341, PMID:16953110 RGD:7207850, RGD:12910123, RGD:8662382, RGD:8662373 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, somatic
CTD
ClinVar
PMID:16790700 PMID:29892015 PMID:30061737, PMID:16790700, PMID:11527649 RGD:1580393, RGD:7207850 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gnb4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:118,978,965...119,007,877
Ensembl chr 2:118,978,973...119,007,835
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
JBrowse link
G Gypc glycophorin C (Gerbich blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:25,312,386...25,344,614
Ensembl chr18:25,312,387...25,344,614
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:22544366 PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 PMID:26467025 PMID:27173043 PMID:27659478 PMID:28104484 PMID:28182231 PMID:28254189 PMID:28492532 PMID:30061737 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:right atrium appendage, cytoplasm (human) RGD PMID:19211267 RGD:8695924 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:38,024,517...38,053,184
Ensembl chr12:38,024,519...38,053,085
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:38,935,820...38,963,444
Ensembl chr20:38,935,820...38,963,309
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15368194 PMID:16487223 PMID:18006559 PMID:22581653 PMID:24681347 PMID:25741868 PMID:28492532, PMID:15368194 RGD:1580501 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD
ClinVar
PMID:10807545 PMID:11997281 PMID:12402336 PMID:12829173 PMID:14661677 PMID:14760488 PMID:15599693 PMID:16116052 PMID:16132053 PMID:16487223 PMID:17161064 PMID:17210839 PMID:18060054 PMID:18222980 PMID:18808722 PMID:19841300 PMID:22581653 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29892015 PMID:30061737 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO mRNA:increased expression:heart atrium
ClinVar Annotator: match by term: Atrial fibrillation
ClinVar PMID:15922306 PMID:19041665 PMID:19111761 PMID:22581653 PMID:23631430 PMID:25410959 PMID:28492532, PMID:23543060 RGD:7247428 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737, PMID:11693772 RGD:1581701 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20173747 PMID:30061737 NCBI chr 2:188,837,280...188,991,794
Ensembl chr 2:188,844,073...188,988,774
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:12522251 PMID:15368194 PMID:16109388 PMID:17467630 PMID:17997361 PMID:17999538 PMID:18599533 PMID:19632626 PMID:19841300 PMID:21224508 PMID:22250012 PMID:22508963 PMID:22581653 PMID:23375927 PMID:24006450 PMID:24818999 PMID:25348405 PMID:25974115 PMID:28492532, PMID:12522251 RGD:1580507 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kdm1b lysine demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:17,987,972...18,028,808
Ensembl chr17:17,987,972...18,028,808
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
JBrowse link
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G LOC689589 hypothetical protein LOC689589 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:129,154,544...129,175,596
Ensembl chr 5:129,154,445...129,175,597
JBrowse link
G Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:126,615,998...126,717,434
Ensembl chr 4:126,617,244...126,644,895
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:1,269,869...2,346,246 JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:60,087,361...60,088,758
Ensembl chr 7:60,087,429...60,088,250
Ensembl chr 7:60,087,429...60,088,250
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:69,549,937...69,571,736
Ensembl chr18:69,549,937...69,571,736
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:109,282,662...109,282,747
Ensembl chr 7:109,282,658...109,282,752
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:19734590, PMID:20935575 RGD:8549736, RGD:8693675 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:18194448, PMID:19734590 RGD:8547896, RGD:8549736 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:25741868 PMID:29892015 PMID:30061737 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
G Myo1c myosin 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:63,803,311...63,819,614
Ensembl chr10:63,803,309...63,819,614
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
Ensembl chr 9:35,574,002...35,593,541
JBrowse link
G Myoz1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:4,077,066...4,084,306
Ensembl chr15:4,077,091...4,084,314
JBrowse link
G Mypn myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:2,458,283...2,470,674
Ensembl chr 7:2,458,264...2,470,674
JBrowse link
G Nav2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:104,575,765...104,941,554
Ensembl chr 1:104,576,589...104,941,552
JBrowse link
G Nebl nebulette ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:28416822 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:266,953,006...267,038,879
Ensembl chr 1:266,952,561...267,038,883
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:29892015 PMID:30061737 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr13:48,679,726...48,709,663
Ensembl chr13:48,679,774...48,705,575
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:56,653,840...56,656,980
Ensembl chr 4:56,653,844...56,656,980
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
Ensembl chr11:72,829,238...72,865,902
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:54,247,460...54,249,664
Ensembl chr 7:54,247,460...54,249,664
JBrowse link
G Phldb2 pleckstrin homology-like domain, family B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:60,042,879...60,051,229
Ensembl chr11:57,265,732...57,481,589
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pkp2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr13:51,134,831...51,183,321
Ensembl chr13:51,134,525...51,183,269
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 8:109,481,352...109,621,462
Ensembl chr 8:109,482,614...109,621,408
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Psmb7 proteasome 20S subunit beta 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:22,890,072...22,951,718
Ensembl chr 3:22,871,105...22,952,063
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Reep3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:22,887,053...22,998,985
Ensembl chr20:22,913,694...22,999,010
JBrowse link
G Ren renin ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rpl3l ribosomal protein L3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:139,379,256...139,466,805
Ensembl chr 5:139,385,429...139,466,081
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:29892015 PMID:30061737 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial fibrillation
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10807545 PMID:11901046 PMID:14967853 PMID:15176425 PMID:15851227 PMID:15992732 PMID:15996170 PMID:16379539 PMID:17210839 PMID:17210841 PMID:17587741 PMID:18088563 PMID:18378609 PMID:18426444 PMID:18929244 PMID:19026623 PMID:19167345 PMID:19716085 PMID:19808477 PMID:19841300 PMID:20062060 PMID:20129283 PMID:20636320 PMID:21109022 PMID:21143119 PMID:21167004 PMID:21321465 PMID:22378279 PMID:22581653 PMID:22677073 PMID:22685113 PMID:22995991 PMID:23414114 PMID:23465283 PMID:23571586 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24317018 PMID:24631775 PMID:24784157 PMID:25348405 PMID:25637381 PMID:25650408 PMID:25741868 PMID:25904541 PMID:26467025 PMID:27153395 PMID:27381756 PMID:27711072 PMID:28087566 PMID:28166811 PMID:28202948 PMID:28341781 PMID:28492532 PMID:29449639 PMID:30061737 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Sgca sarcoglycan, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr 1:267,039,654...267,245,868
Ensembl chr 1:267,046,361...267,245,636
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc27a6 solute carrier family 27 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:53,609,497...53,667,833
Ensembl chr18:53,609,214...53,667,970
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:19,924,200...20,517,918
Ensembl chr10:20,320,878...20,518,518
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:118,478,075...118,487,633
Ensembl chr 4:118,478,075...118,534,280
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664 PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) RGD PMID:21954878 RGD:8655869 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:64,643,223...64,843,963
Ensembl chr 9:64,643,281...64,843,960
JBrowse link
G Sspn sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:180,291,389...180,325,799
Ensembl chr 4:180,291,389...180,324,408
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Synpo2l synaptopodin 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:4,064,706...4,074,151
Ensembl chr15:4,064,706...4,072,635
JBrowse link
G Tbx5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tfpi tissue factor pathway inhibitor IEP mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:17344846 PMID:20890277 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:28492532 PMID:29892015 PMID:30061737 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tuba8 tubulin, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:108,060,653...108,264,706
Ensembl chr14:108,143,869...108,264,706
JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:2,330,631...2,627,654
Ensembl chr 1:2,333,778...2,627,747
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vwf von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461, PMID:21497043 RGD:7205648 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt8a Wnt family member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr18:27,331,236...27,336,829
Ensembl chr18:27,331,236...27,336,829
JBrowse link
G Xpo1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
JBrowse link
G Xpo7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:52,357,845...52,443,055
Ensembl chr15:52,357,853...52,443,055
JBrowse link
G Xxylt1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:73,198,404...73,330,682
Ensembl chr11:73,198,522...73,329,083
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19597491 PMID:19597492 PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr19:42,753,983...42,925,794
Ensembl chr19:42,758,127...42,920,344
JBrowse link
G Zfp462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:86,513,645...86,523,375
Ensembl chr10:86,514,830...86,523,372
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15342699 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17891434 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26805889 PMID:27013732 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29037160 PMID:30240412 PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial standstill 1 OMIM
ClinVar
PMID:9588401 PMID:16790700 PMID:21921585 PMID:22199024 PMID:22713807 PMID:22912587 PMID:24060583 PMID:25205790 PMID:25741868 PMID:26137477 PMID:26279651 PMID:27930557 PMID:28166811 PMID:28457700 PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067 PMID:12522116 PMID:15466643 PMID:15998690 PMID:16188595 PMID:16684018 PMID:19251209 PMID:19716085 PMID:20129283 PMID:20384651 PMID:20539757 PMID:21596231 PMID:21824921 PMID:22247482 PMID:22581653 PMID:23791817 PMID:24136861 PMID:24573164 PMID:24762805 PMID:25741868 PMID:25904541 PMID:26111534 PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10580070, PMID:25469153 RGD:12791032 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) RGD PMID:16896344 RGD:12914775 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrioventricular conduction block ClinVar PMID:11804990 PMID:15671429 PMID:18048769 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bves blood vessel epicardial substance ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2X
ClinVar
OMIM
PMID:25741868 PMID:26642364 PMID:31119192 NCBI chr20:50,439,885...50,474,678
Ensembl chr20:50,439,883...50,474,678
JBrowse link
Bradycardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora1 adenosine A1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18313046 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:9519251 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181912 NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6093200 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19284319 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1724532 PMID:10626749 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 PMID:8440307 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Edn2 endothelin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr 5:139,098,472...139,106,396
Ensembl chr 5:139,100,898...139,105,792
JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:3277781 PMID:3736332 PMID:6542785 PMID:7787496 PMID:9674488 NCBI chr 3:48,442,635...48,451,650
Ensembl chr 3:48,442,635...48,451,650
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:2207497 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281941 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Mc4r melanocortin 4 receptor IMP RGD PMID:24400148 RGD:13825242 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Nisch nischarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11486246 NCBI chr16:7,254,372...7,290,670
Ensembl chr16:7,254,974...7,290,561
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:2326505 NCBI chr 7:44,111,594...44,120,998
Ensembl chr 7:44,111,151...44,121,130
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337 PMID:6131355 PMID:6716269 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337 PMID:2636709 PMID:19039989 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Slc30a5 solute carrier family 30 member 5 ISO RGD PMID:12095919 RGD:1580628 NCBI chr 2:30,815,683...30,845,796
Ensembl chr 2:30,815,703...30,846,149
JBrowse link
G Tac1 tachykinin, precursor 1 IDA
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:2445440 PMID:8960879, PMID:2471579 RGD:2305984 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:9696263 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 PMID:6813757 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
G Uts2 urotensin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16160878 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
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 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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 8:128,027,880...128,036,471
Ensembl chr 8:128,027,958...128,036,236
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 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO 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 PMID:17224476 PMID:20817017 PMID:22385640 PMID:22581653 PMID:22840528 PMID:23414114 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24183960 PMID:25333069 PMID:25633834 PMID:25637381 PMID:25741868 PMID:25974115 PMID:27231019 PMID:27662471 PMID:27711072 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28750076 PMID:30172029 PMID:30279520 PMID:30662450 PMID:31539150 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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 Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 PMID:23414114 PMID:25527503 PMID:25741868 PMID:26467025 PMID:26498160 PMID:28166811 PMID:28492532 NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
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 PMID:23874304 PMID:24033266 PMID:24055113 PMID:24752249 PMID:25467552 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26636822 PMID:26707467 PMID:27650965 PMID:27711072 PMID:28492532 PMID:30027834 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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 8:127,065,292...127,726,248
Ensembl chr 8:127,702,534...127,726,127
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 8:127,788,919...127,835,986
Ensembl chr 8:127,789,048...127,834,637
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 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,133,398...128,153,110
Ensembl chr 8:128,133,431...128,153,110
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 Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 PMID:19666841 PMID:19745168 PMID:19815826 PMID:20724705 PMID:22584458 PMID:22995991 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:26743238 PMID:27435932 PMID:27930701 PMID:28008009 PMID:28166811 PMID:28492532 PMID:28798025 PMID:28837624 PMID:29077258 PMID:30662450 PMID:31043699 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
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 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
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 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
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:28492532 PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
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 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 PMID:10428953 PMID:10973849 PMID:11320260 PMID:11874988 PMID:12566567 PMID:15840476 PMID:16818210 PMID:19008479 PMID:19340287 PMID:19521339 PMID:19716085 PMID:22166941 PMID:22581653 PMID:23124029 PMID:23510998 PMID:23631430 PMID:24033266 PMID:24400172 PMID:24561134 PMID:24606995 PMID:25637381 PMID:25741868 PMID:26187847 PMID:28176637 PMID:28492532 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
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:28492532 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28166811 PMID:28492532 NCBI chr  X:113,583,844...113,584,459
Ensembl chr  X:113,583,844...113,584,459
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 Annotator: match by term: Brugada syndrome
ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 PMID:16487223 PMID:19841300 PMID:22581653 PMID:22949429 PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
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:22056721 PMID:22365152 PMID:22562657 PMID:22840528 PMID:23632791 PMID:24700710 PMID:25741868 PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28986455 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G LOC685081 similar to solute carrier family 22 (organic cation transporter), member 13 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,905,478...127,914,897
Ensembl chr 8:127,909,147...127,912,860
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 PMID:21832052 PMID:21835320 PMID:22361390 PMID:23861362 PMID:24033266 PMID:24111713 PMID:25351510 PMID:25741868 PMID:26914223 PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
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 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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 PMID:29332214 PMID:30868567 PMID:31376648 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 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 PMID:24033266 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26636822 PMID:27711072 PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
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 8:127,920,349...128,009,951
Ensembl chr 8:127,920,349...128,009,951
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 PMID:23137101 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24200904 PMID:24704780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:27930701 PMID:28166282 PMID:28492532 PMID:29288195 NCBI chr11:88,912,163...88,972,213 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 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12417552 PMID:15381640 PMID:15655131 PMID:16943940 PMID:17576681 PMID:18355654 PMID:20129283 PMID:21646736 PMID:22789973 PMID:23115331 PMID:23872634 PMID:24998131 PMID:25053638 PMID:25085921 PMID:25301907 PMID:25437880 PMID:25691538 PMID:25691686 PMID:25741868 PMID:25842276 PMID:26220970 PMID:26423924 PMID:26733327 PMID:27272739 PMID:28074886 PMID:28078312 PMID:28166811 PMID:28407228 PMID:28492532 PMID:29247119 PMID:29911575 PMID:30135145 PMID:31106349 PMID:31292628 PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
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 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:22155597 PMID:25741868 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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:23861362 PMID:24033266 PMID:24055113 PMID:24144883 PMID:25650408 PMID:25741868 PMID:25757662 PMID:28166811 PMID:28492532 PMID:29247119 PMID:30821013 PMID:31019283 PMID:31043699 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by OMIM:601144
ClinVar
CTD
PMID:2107088 PMID:2380016 PMID:3953067 PMID:7651517 PMID:7889574 PMID:8541846 PMID:8620612 PMID:8661019 PMID:8917568 PMID:8972392 PMID:9495298 PMID:9506831 PMID:9521325 PMID:9536098 PMID:9686753 PMID:10377081 PMID:10448858 PMID:10471492 PMID:10508990 PMID:10532948 PMID:10618304 PMID:10662748 PMID:10690282 PMID:10711933 PMID:10727653 PMID:10772658 PMID:10807545 PMID:10940383 PMID:10961955 PMID:10966831 PMID:10973849 PMID:11013131 PMID:11029409 PMID:11076825 PMID:11123251 PMID:11150514 PMID:11274952 PMID:11304498 PMID:11410597 PMID:11420310 PMID:11463728 PMID:11535573 PMID:11710892 PMID:11748104 PMID:11804990 PMID:11807557 PMID:11823453 PMID:11827685 PMID:11901046 PMID:11960580 PMID:11997281 PMID:12051963 PMID:12106943 PMID:12123767 PMID:12193783 PMID:12209021 PMID:12354768 PMID:12471205 PMID:12522116 PMID:12566525 PMID:12569159 PMID:12574143 PMID:12574983 PMID:12639704 PMID:12650879 PMID:12650885 PMID:12673799 PMID:12687841 PMID:12693506 PMID:12695286 PMID:12741714 PMID:12820704 PMID:12845244 PMID:12877697 PMID:12898257 PMID:14500339 PMID:14523039 PMID:14625171 PMID:14654377 PMID:14676229 PMID:14687250 PMID:14736542 PMID:14753626 PMID:14760488 PMID:14961552 PMID:14967853 PMID:14985827 PMID:14990510 PMID:14998624 PMID:15023552 PMID:15028074 PMID:15047701 PMID:15051636 PMID:15057319 PMID:15120823 PMID:15121794 PMID:15136511 PMID:15161528 PMID:15176425 PMID:15184283 PMID:15277732 PMID:15338453 PMID:15466642 PMID:15466643 PMID:15520322 PMID:15556047 PMID:15579534 PMID:15599693 PMID:15621041 PMID:15671429 PMID:15689442 PMID:15828879 PMID:15840476 PMID:15840483 PMID:15851227 PMID:15851228 PMID:15851320 PMID:15851440 PMID:15877619 PMID:15890323 PMID:15910881 PMID:15992732 PMID:15996170 PMID:15998675 PMID:15998690 PMID:16038262 PMID:16039271 PMID:16061744 PMID:16132053 PMID:16144991 PMID:16155735 PMID:16188595 PMID:16199547 PMID:16239976 PMID:16254012 PMID:16266370 PMID:16267250 PMID:16267253 PMID:16325048 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16426410 PMID:16453014 PMID:16453024 PMID:16521247 PMID:16540748 PMID:16568155 PMID:16611632 PMID:16616735 PMID:16643399 PMID:16684018 PMID:16707561 PMID:16712702 PMID:16731473 PMID:16764707 PMID:16864729 PMID:16922724 PMID:16945804 PMID:17075016 PMID:17081365 PMID:17088455 PMID:17141278 PMID:17161064 PMID:17185997 PMID:17198989 PMID:17210839 PMID:17210841 PMID:17227473 PMID:17275750 PMID:17331104 PMID:17368591 PMID:17404158 PMID:17438607 PMID:17438610 PMID:17442746 PMID:17445919 PMID:17504259 PMID:17512504 PMID:17576681 PMID:17587741 PMID:17605181 PMID:17646591 PMID:17675083 PMID:17697823 PMID:17698727 PMID:17728436 PMID:17805561 PMID:17854786 PMID:17892895 PMID:17897635 PMID:17905336 PMID:17908752 PMID:17967976 PMID:17993325 PMID:18048769 PMID:18071069 PMID:18088563 PMID:18093912 PMID:18156160 PMID:18180363 PMID:18245395 PMID:18252757 PMID:18304999 PMID:18341814 PMID:18361072 PMID:18362431 PMID:18375968 PMID:18378609 PMID:18426444 PMID:18436145 PMID:18451998 PMID:18452873 PMID:18452875 PMID:18456723 PMID:18465145 PMID:18507554 PMID:18508782 PMID:18551308 PMID:18596570 PMID:18599870 PMID:18616619 PMID:18697752 PMID:18708744 PMID:18752142 PMID:18752973 PMID:18848812 PMID:18849657 PMID:18929331 PMID:18976777 PMID:18984535 PMID:19026623 PMID:19027780 PMID:19056759 PMID:19075524 PMID:19083750 PMID:19140927 PMID:19167345 PMID:19167409 PMID:19251209 PMID:19272188 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19322600 PMID:19336922 PMID:19350499 PMID:19406494 PMID:19412328 PMID:19561025 PMID:19564561 PMID:19597050 PMID:19606473 PMID:19632629 PMID:19648062 PMID:19666841 PMID:19706159 PMID:19716085 PMID:19762097 PMID:19799913 PMID:19808398 PMID:19808440 PMID:19808477 PMID:19841298 PMID:19841300 PMID:19843921 PMID:19862833 PMID:19875396 PMID:19957170 PMID:19996378 PMID:20022821 PMID:20025708 PMID:20031634 PMID:20090423 PMID:20102864 PMID:20102920 PMID:20110800 PMID:20123697 PMID:20129283 PMID:20137763 PMID:20174578 PMID:20339501 PMID:20381179 PMID:20384651 PMID:20395683 PMID:20403459 PMID:20448214 PMID:20458009 PMID:20470418 PMID:20486126 PMID:20513597 PMID:20539757 PMID:20541041 PMID:20564468 PMID:20609320 PMID:20636320 PMID:20646679 PMID:20812931 PMID:20875080 PMID:20877689 PMID:20960617 PMID:20960618 PMID:20981092 PMID:21051419 PMID:21070882 PMID:21109022 PMID:21126620 PMID:21143119 PMID:21167004 PMID:21167176 PMID:21185501 PMID:21193062 PMID:21273195 PMID:21306642 PMID:21321465 PMID:21325150 PMID:21350584 PMID:21385947 PMID:21410720 PMID:21483645 PMID:21498565 PMID:21566136 PMID:21596231 PMID:21621375 PMID:21622575 PMID:21705349 PMID:21726068 PMID:21824921 PMID:21840964 PMID:21895525 PMID:21908450 PMID:22028457 PMID:22090165 PMID:22090166 PMID:22216297 PMID:22247482 PMID:22277643 PMID:22331908 PMID:22337857 PMID:22338672 PMID:22360817 PMID:22370247 PMID:22370996 PMID:22373669 PMID:22378279 PMID:22407026 PMID:22426227 PMID:22490985 PMID:22519808 PMID:22529811 PMID:22581653 PMID:22675453 PMID:22677073 PMID:22682427 PMID:22685113 PMID:22705208 PMID:22710484 PMID:22717692 PMID:22721569 PMID:22739120 PMID:22766342 PMID:22789973 PMID:22795782 PMID:22840528 PMID:22885917 PMID:22899775 PMID:22984773 PMID:22995991 PMID:22999724 PMID:23008441 PMID:23091201 PMID:23098067 PMID:23139254 PMID:23158531 PMID:23168001 PMID:23174487 PMID:23200271 PMID:23237912 PMID:23276942 PMID:23283979 PMID:23293604 PMID:23299917 PMID:23321620 PMID:23376825 PMID:23382499 PMID:23414114 PMID:23420830 PMID:23424222 PMID:23425522 PMID:23465283 PMID:23503384 PMID:23538271 PMID:23571586 PMID:23631430 PMID:23671135 PMID:23692053 PMID:23714088 PMID:23785128 PMID:23791817 PMID:23805106 PMID:23818691 PMID:23838598 PMID:23853484 PMID:23861362 PMID:23872634 PMID:23874304 PMID:23936059 PMID:23963187 PMID:24033266 PMID:24055113 PMID:24059039 PMID:24136861 PMID:24144883 PMID:24167619 PMID:24168886 PMID:24223155 PMID:24295898 PMID:24317018 PMID:24332150 PMID:24349418 PMID:24363796 PMID:24365614 PMID:24388587 PMID:24400668 PMID:24463578 PMID:24524602 PMID:24529773 PMID:24573164 PMID:24573764 PMID:24582607 PMID:24596401 PMID:24606995 PMID:24613995 PMID:24631775 PMID:24653702 PMID:24667783 PMID:24681144 PMID:24709866 PMID:24713084 PMID:24721456 PMID:24721642 PMID:24736382 PMID:24762593 PMID:24762805 PMID:24768612 PMID:24784157 PMID:24795344 PMID:24815523 PMID:24871449 PMID:24892747 PMID:24895455 PMID:24948852 PMID:24951569 PMID:24951663 PMID:24963427 PMID:24981977 PMID:25051102 PMID:25065297 PMID:25102755 PMID:25119684 PMID:25163546 PMID:25171853 PMID:25172307 PMID:25179549 PMID:25194972 PMID:25210054 PMID:25210526 PMID:25326637 PMID:25344691 PMID:25348405 PMID:25351510 PMID:25370050 PMID:25410959 PMID:25460174 PMID:25467552 PMID:25554238 PMID:25616976 PMID:25624448 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25741286 PMID:25741868 PMID:25748040 PMID:25757662 PMID:25815641 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26022185 PMID:26031372 PMID:26036855 PMID:26066609 PMID:26111534 PMID:26129877 PMID:26131924 PMID:26132555 PMID:26159999 PMID:26164358 PMID:26173111 PMID:26189708 PMID:26209461 PMID:26213684 PMID:26220391 PMID:26282245 PMID:26283144 PMID:26304136 PMID:26304620 PMID:26332594 PMID:26392562 PMID:26406308 PMID:26423924 PMID:26467025 PMID:26467377 PMID:26538325 PMID:26633542 PMID:26636822 PMID:26656175 PMID:26669661 PMID:26680202 PMID:26713557 PMID:26724572 PMID:26733869 PMID:26743238 PMID:26746457 PMID:26749013 PMID:26798387 PMID:26801742 PMID:26822237 PMID:26884609 PMID:26888838 PMID:26916278 PMID:27041150 PMID:27066507 PMID:27077130 PMID:27082542 PMID:27153395 PMID:27281089 PMID:27287068 PMID:27321809 PMID:27332903 PMID:27381756 PMID:27435932 PMID:27485560 PMID:27532257 PMID:27554632 PMID:27566755 PMID:27668095 PMID:27676163 PMID:27707468 PMID:27711072 PMID:27784737 PMID:27816319 PMID:27834932 PMID:27871843 PMID:27896284 PMID:27930701 PMID:28018021 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28087622 PMID:28104484 PMID:28146213 PMID:28150151 PMID:28166811 PMID:28183570 PMID:28202948 PMID:28265756 PMID:28301460 PMID:28323875 PMID:28341588 PMID:28341781 PMID:28344931 PMID:28359509 PMID:28391114 PMID:28412158 PMID:28416588 PMID:28449774 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28549997 PMID:28567303 PMID:28573431 PMID:28600387 PMID:28611029 PMID:28638671 PMID:28701297 PMID:28704380 PMID:28725320 PMID:28734073 PMID:28779003 PMID:28781330 PMID:28781849 PMID:28790152 PMID:28794082 PMID:28798025 PMID:28807990 PMID:28831623 PMID:28834665 PMID:28837624 PMID:28878402 PMID:28988457 PMID:29016939 PMID:29032884 PMID:29121719 PMID:29167113 PMID:29202755 PMID:29247119 PMID:29306897 PMID:29331327 PMID:29431662 PMID:29447731 PMID:29449639 PMID:29449963 PMID:29517769 PMID:29540472 PMID:29540853 PMID:29544605 PMID:29574140 PMID:29652902 PMID:29672598 PMID:29709101 PMID:29728395 PMID:29759522 PMID:29759671 PMID:29764897 PMID:29773157 PMID:29790872 PMID:29791480 PMID:29806494 PMID:29874177 PMID:29884292 PMID:29915097 PMID:29997009 PMID:29998127 PMID:30050137 PMID:30059973 PMID:30079003 PMID:30084490 PMID:30086531 PMID:30146492 PMID:30153324 PMID:30165862 PMID:30193851 PMID:30232268 PMID:30244407 PMID:30254039 PMID:30364184 PMID:30371189 PMID:30419068 PMID:30476647 PMID:30609406 PMID:30662450 PMID:30690642 PMID:30758498 PMID:30828344 PMID:30847666 PMID:31019283 PMID:31043699 PMID:31191357 PMID:31262209 PMID:31333075 PMID:31337358 PMID:31397097 PMID:31453232 PMID:31477192 PMID:31568572 PMID:31680123 PMID:31737537 PMID:31751991 PMID:31866066 PMID:32009526 PMID:32048431 PMID:32431610 PMID:32449611 PMID:32470535 PMID:32533946 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 8:127,858,425...127,871,192 JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr16:2,112,271...2,227,336
Ensembl chr16:2,112,274...2,227,309
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
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 PMID:26467025 PMID:28492532 PMID:30871747 PMID:31303467 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:25741868 PMID:28492532 PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27588451 PMID:28492532 PMID:29099038 PMID:30985088 PMID:31795264 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371117 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,735,233...127,753,313
Ensembl chr 8:127,735,258...127,753,349
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,041,875...128,076,951
Ensembl chr 8:128,044,084...128,076,946
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 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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
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 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 PMID:24068186 PMID:28492532 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25691538 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 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
OMIM
PMID:2107088 PMID:8661019 PMID:8972392 PMID:9521325 PMID:9536098 PMID:10377081 PMID:10508990 PMID:10532948 PMID:10590249 PMID:10618304 PMID:10690282 PMID:10727653 PMID:10807545 PMID:10940383 PMID:10961955 PMID:10966831 PMID:10973849 PMID:11013131 PMID:11029409 PMID:11076825 PMID:11123251 PMID:11410597 PMID:11463728 PMID:11710892 PMID:11748104 PMID:11804990 PMID:11807557 PMID:11823453 PMID:11827685 PMID:11889015 PMID:11901046 PMID:11960580 PMID:11997281 PMID:12106943 PMID:12193783 PMID:12354768 PMID:12471205 PMID:12566525 PMID:12569159 PMID:12574143 PMID:12639704 PMID:12650879 PMID:12673799 PMID:12820704 PMID:12877697 PMID:14500339 PMID:14523039 PMID:14687250 PMID:14753626 PMID:14760488 PMID:14961552 PMID:14967853 PMID:14985827 PMID:15023552 PMID:15028074 PMID:15121794 PMID:15161528 PMID:15176425 PMID:15277732 PMID:15338453 PMID:15466642 PMID:15520322 PMID:15556047 PMID:15579534 PMID:15599693 PMID:15671429 PMID:15689442 PMID:15828879 PMID:15840476 PMID:15851227 PMID:15851440 PMID:15910881 PMID:15992732 PMID:15996170 PMID:15998675 PMID:16061744 PMID:16132053 PMID:16155735 PMID:16199547 PMID:16239976 PMID:16267250 PMID:16267253 PMID:16325048 PMID:16344400 PMID:16379539 PMID:16414944 PMID:16453014 PMID:16453024 PMID:16540748 PMID:16568155 PMID:16611632 PMID:16707561 PMID:16712702 PMID:16731473 PMID:16764707 PMID:16864729 PMID:16922724 PMID:17081365 PMID:17141278 PMID:17161064 PMID:17185997 PMID:17210839 PMID:17210841 PMID:17227473 PMID:17275750 PMID:17331104 PMID:17442746 PMID:17504259 PMID:17512504 PMID:17576681 PMID:17587741 PMID:17605181 PMID:17646591 PMID:17675083 PMID:17697823 PMID:17854786 PMID:17892895 PMID:17897635 PMID:17905336 PMID:17908752 PMID:17967976 PMID:17993325 PMID:18048769 PMID:18071069 PMID:18088563 PMID:18093912 PMID:18156160 PMID:18180363 PMID:18245395 PMID:18304999 PMID:18361072 PMID:18362431 PMID:18368697 PMID:18378609 PMID:18426444 PMID:18451998 PMID:18452873 PMID:18452875 PMID:18456723 PMID:18508782 PMID:18599870 PMID:18708744 PMID:18752142 PMID:18752973 PMID:18849657 PMID:18976777 PMID:19026623 PMID:19027780 PMID:19056759 PMID:19083750 PMID:19251209 PMID:19272188 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19322600 PMID:19406494 PMID:19412328 PMID:19597050 PMID:19606473 PMID:19666841 PMID:19706159 PMID:19716085 PMID:19799913 PMID:19808398 PMID:19808477 PMID:19841298 PMID:19841300 PMID:19843921 PMID:19862833 PMID:19996378 PMID:20031634 PMID:20102864 PMID:20110800 PMID:20123697 PMID:20129283 PMID:20137763 PMID:20384651 PMID:20395683 PMID:20403459 PMID:20448214 PMID:20458009 PMID:20470418 PMID:20486126 PMID:20539757 PMID:20609320 PMID:20636320 PMID:20875080 PMID:20877689 PMID:20981092 PMID:21051419 PMID:21070882 PMID:21109022 PMID:21126620 PMID:21167004 PMID:21167176 PMID:21273195 PMID:21306642 PMID:21321465 PMID:21325150 PMID:21385947 PMID:21410720 PMID:21483645 PMID:21498565 PMID:21596231 PMID:21621375 PMID:21622575 PMID:21705349 PMID:21726068 PMID:21840964 PMID:21908450 PMID:22028457 PMID:22090166 PMID:22247482 PMID:22277643 PMID:22337857 PMID:22338672 PMID:22370247 PMID:22373669 PMID:22378279 PMID:22426227 PMID:22490985 PMID:22519808 PMID:22581653 PMID:22677073 PMID:22682427 PMID:22685113 PMID:22710484 PMID:22739120 PMID:22766342 PMID:22789973 PMID:22795782 PMID:22840528 PMID:22885917 PMID:22899775 PMID:22984773 PMID:22995991 PMID:22999724 PMID:23008441 PMID:23091201 PMID:23098067 PMID:23139254 PMID:23174487 PMID:23200271 PMID:23237912 PMID:23293604 PMID:23299917 PMID:23321620 PMID:23382499 PMID:23414114 PMID:23420830 PMID:23465283 PMID:23503384 PMID:23571586 PMID:23631430 PMID:23692053 PMID:23714088 PMID:23785128 PMID:23805106 PMID:23838598 PMID:23853484 PMID:23861362 PMID:23874304 PMID:23936059 PMID:23963187 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24144883 PMID:24295898 PMID:24317018 PMID:24332150 PMID:24349418 PMID:24388587 PMID:24463578 PMID:24524602 PMID:24529773 PMID:24573164 PMID:24606995 PMID:24613995 PMID:24631775 PMID:24653702 PMID:24667783 PMID:24721456 PMID:24721642 PMID:24736382 PMID:24762593 PMID:24762805 PMID:24784157 PMID:24795344 PMID:24815523 PMID:24871449 PMID:24892747 PMID:24895455 PMID:24948852 PMID:24951663 PMID:25051102 PMID:25065297 PMID:25102755 PMID:25172307 PMID:25210054 PMID:25210526 PMID:25326637 PMID:25344691 PMID:25348405 PMID:25351510 PMID:25410959 PMID:25467552 PMID:25554238 PMID:25624448 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25741286 PMID:25741868 PMID:25748040 PMID:25757662 PMID:25815641 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26031372 PMID:26111534 PMID:26129877 PMID:26131924 PMID:26159999 PMID:26173111 PMID:26189708 PMID:26209461 PMID:26213684 PMID:26220391 PMID:26282245 PMID:26332594 PMID:26406308 PMID:26467025 PMID:26538325 PMID:26633542 PMID:26669661 PMID:26733869 PMID:26743238 PMID:26746457 PMID:26749013 PMID:26798387 PMID:26801742 PMID:26822237 PMID:27077130 PMID:27082542 PMID:27153395 PMID:27281089 PMID:27287068 PMID:27381756 PMID:27435932 PMID:27532257 PMID:27554632 PMID:27566755 PMID:27707468 PMID:27711072 PMID:27816319 PMID:27834932 PMID:27896284 PMID:27930701 PMID:28069705 PMID:28074886 PMID:28087566 PMID:28150151 PMID:28166811 PMID:28183570 PMID:28202948 PMID:28265756 PMID:28301460 PMID:28341588 PMID:28341781 PMID:28344931 PMID:28359509 PMID:28391114 PMID:28412158 PMID:28416588 PMID:28449774 PMID:28472724 PMID:28491758 PMID:28492532 PMID:28493952 PMID:28498465 PMID:28549997 PMID:28567303 PMID:28573431 PMID:28600387 PMID:28638671 PMID:28704380 PMID:28725320 PMID:28779003 PMID:28781330 PMID:28781849 PMID:28794082 PMID:28798025 PMID:28807990 PMID:28831623 PMID:28834665 PMID:28988457 PMID:29032884 PMID:29167113 PMID:29202755 PMID:29247119 PMID:29306897 PMID:29331327 PMID:29431662 PMID:29449639 PMID:29449963 PMID:29540472 PMID:29544605 PMID:29672598 PMID:29709101 PMID:29728395 PMID:29764897 PMID:29790872 PMID:29884292 PMID:29997009 PMID:29998127 PMID:30050137 PMID:30079003 PMID:30086531 PMID:30146492 PMID:30153324 PMID:30193851 PMID:30364184 PMID:30371189 PMID:30419068 PMID:30662450 PMID:30847666 PMID:31019283 PMID:31043699 PMID:31191357 PMID:31333075 PMID:31337358 PMID:31397097 PMID:31568572 PMID:32009526 PMID:32470535 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 ISO ClinVar Annotator: match by term: Brugada syndrome 2 OMIM
ClinVar
PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 PMID:19666841 PMID:19745168 PMID:19815826 PMID:20724705 PMID:22995991 PMID:23414114 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24715918 PMID:25741868 PMID:25998140 PMID:26743238 PMID:27435932 PMID:28008009 PMID:28492532 PMID:28798025 PMID:28837624 PMID:29077258 PMID:30662450 PMID:31043699 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
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 ISO ClinVar Annotator: match by term: Brugada syndrome 3 OMIM
ClinVar
PMID:17224476 PMID:20817017 PMID:22385640 PMID:22581653 PMID:23414114 PMID:23861362 PMID:24033266 PMID:24183960 PMID:25184293 PMID:25333069 PMID:25633834 PMID:25741868 PMID:25974115 PMID:26230511 PMID:26386135 PMID:27502440 PMID:27711072 PMID:28492532 PMID:29046645 PMID:30345660 PMID:31539150 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
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 ISO ClinVar Annotator: match by term: Brugada syndrome 4
ClinVar Annotator: match by OMIM:611876
OMIM
ClinVar
PMID:17224476 PMID:19358333 PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 PMID:23874304 PMID:24033266 PMID:24055113 PMID:24752249 PMID:25467552 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26636822 PMID:26707467 PMID:27650965 PMID:27711072 PMID:28166811 PMID:28341588 PMID:28492532 PMID:29016939 PMID:30027834 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome 4 ClinVar PMID:17224476 PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24752249 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26636822 PMID:27711072 PMID:28166811 PMID:28341588 PMID:28492532 PMID:29016939 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 OMIM
ClinVar
PMID:5421039 PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15671291 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17576681 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18464934 PMID:18941776 PMID:19522081 PMID:19710327 PMID:19808477 PMID:20226894 PMID:20437590 PMID:20628201 PMID:20662403 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22247482 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:22987075 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24065921 PMID:24529773 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24662403 PMID:24747835 PMID:24981977 PMID:25253298 PMID:25668026 PMID:25741868 PMID:25827112 PMID:26042039 PMID:26467025 PMID:26498160 PMID:27207958 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27896052 PMID:28074886 PMID:28331474 PMID:28341588 PMID:28449774 PMID:28492532 PMID:28600387 PMID:28681755 PMID:28726809 PMID:28837624 PMID:29056246 PMID:29655203 PMID:29758173 PMID:29915715 PMID:30660056 PMID:31465153 PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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 ISO ClinVar Annotator: match by term: Brugada syndrome 6 OMIM
ClinVar
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16313760 PMID:16449802 PMID:17395131 PMID:18209471 PMID:19122847 PMID:19306396 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28747690 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
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 PMID:16449802 PMID:17395131 PMID:19306396 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28747690 NCBI chr 1:165,170,645...165,172,972
Ensembl chr 1:165,170,645...165,172,972
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 ISO ClinVar Annotator: match by term: Brugada syndrome 7 OMIM
ClinVar
PMID:20031595 PMID:20042427 PMID:20226894 PMID:20558140 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24144883 PMID:24529773 PMID:25650408 PMID:25741868 PMID:25757662 PMID:27435932 PMID:27711072 PMID:28166811 PMID:28492532 PMID:29247119 PMID:30662450 PMID:30821013 PMID:31019283 PMID:31043699 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
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 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,088,871...64,116,832
Ensembl chr 8:64,088,913...64,116,832
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 8:64,166,359...64,268,555
Ensembl chr 8:64,166,360...64,268,555
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 OMIM
ClinVar
PMID:9536098 PMID:12750403 PMID:17576681 PMID:17646576 PMID:19165230 PMID:20693575 PMID:21615589 PMID:22840528 PMID:23178648 PMID:23623143 PMID:23861362 PMID:24033266 PMID:24569893 PMID:24607718 PMID:25145517 PMID:25145518 PMID:25145519 PMID:25467552 PMID:25642760 PMID:25741868 PMID:26206080 PMID:26467025 PMID:26688388 PMID:27173043 PMID:27182706 PMID:27659478 PMID:27930701 PMID:28086167 PMID:28104484 PMID:28166811 PMID:28182231 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28341588 PMID:28492532 PMID:28855170 PMID:29247119 PMID:30196304 PMID:30578647 PMID:30847666 PMID:30975432 PMID:30986657 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:63,649,871...63,756,394
Ensembl chr 8:63,653,266...63,750,531
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,299,646...64,305,330
Ensembl chr 8:64,299,646...64,305,330
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 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:21349352 PMID:21640846 PMID:22284586 PMID:22336521 PMID:22457051 PMID:22840528 PMID:23400760 PMID:23414114 PMID:23963749 PMID:24762397 PMID:25214526 PMID:25741868 PMID:26016905 PMID:26467025 PMID:28492532 PMID:29053796 PMID:30776697 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
Cardiac Complexes, Premature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:11334825 PMID:15075330 PMID:15178757 PMID:15970537 PMID:16253912 PMID:16650839 PMID:17161064 PMID:17242276 PMID:17261669 PMID:17928548 PMID:17940615 PMID:18782775 PMID:19394342 PMID:19862833 PMID:22411828 PMID:22581653 PMID:22995991 PMID:23174487 PMID:23396983 PMID:23631430 PMID:23861362 PMID:24025405 PMID:25333069 PMID:25351510 PMID:25741868 PMID:26159999 PMID:26168218 PMID:27435932 PMID:28074886 PMID:28492532 PMID:30615648 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24690944 PMID:25741868 PMID:27218670 PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:20530761 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:10219239 PMID:10973849 PMID:10984545 PMID:11034315 PMID:11101505 PMID:14760488 PMID:16922724 PMID:19219384 PMID:19716085 PMID:19841298 PMID:19863579 PMID:20042375 PMID:22378279 PMID:22581653 PMID:23098067 PMID:23382499 PMID:23861362 PMID:24055113 PMID:24144883 PMID:24606995 PMID:24631775 PMID:25333069 PMID:25637381 PMID:25741868 PMID:26159999 PMID:26284702 PMID:27884173 PMID:28341588 PMID:28492532 PMID:28794082 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:10807545 PMID:14760488 PMID:15599693 PMID:15746444 PMID:17597962 PMID:18426444 PMID:19305409 PMID:19490382 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:25741868 PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:9799083 PMID:10807545 PMID:11761407 PMID:12702160 PMID:14661677 PMID:15028050 PMID:15500450 PMID:16038262 PMID:16487223 PMID:17016049 PMID:18426444 PMID:19716085 PMID:19841298 PMID:19841300 PMID:19862833 PMID:22378279 PMID:22581653 PMID:22949429 PMID:23631430 PMID:23995044 PMID:24033266 PMID:24223155 PMID:24284363 PMID:24388587 PMID:24762593 PMID:25741868 PMID:26159999 PMID:26385840 PMID:26467025 PMID:28492532 PMID:28704380 PMID:29876285 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:15489853 PMID:16549640 PMID:16567567 PMID:19084810 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20829228 PMID:21301620 PMID:21606396 PMID:22177269 PMID:23178689 PMID:23810883 PMID:23889974 PMID:24033266 PMID:24704780 PMID:25741868 PMID:25765472 PMID:25820315 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:12193783 PMID:12471205 PMID:14500339 PMID:15161528 PMID:15851227 PMID:15992732 PMID:16061744 PMID:16453014 PMID:16453024 PMID:16731473 PMID:16922724 PMID:17185997 PMID:17275750 PMID:17892895 PMID:17967976 PMID:18362431 PMID:18378609 PMID:18452875 PMID:19302788 PMID:19305408 PMID:19305409 PMID:19841300 PMID:19843921 PMID:20129283 PMID:20403459 PMID:20470418 PMID:20486126 PMID:21325150 PMID:21385947 PMID:21498565 PMID:21621375 PMID:22581653 PMID:22885917 PMID:22984773 PMID:23091201 PMID:23425522 PMID:23861362 PMID:24033266 PMID:24332150 PMID:24951663 PMID:25065297 PMID:25741868 PMID:25757662 PMID:25923670 PMID:26467025 PMID:27668095 PMID:28492532 PMID:29431662 PMID:29759522 PMID:30059973 PMID:30364184 PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:25741868 PMID:26805781 PMID:29369572 NCBI chr11:86,793,959...86,840,556
Ensembl chr11:86,797,557...86,840,573
JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:48,150,902...48,210,074
Ensembl chr10:48,150,902...48,210,074
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Cardiac Conduction Defect, Nonprogressive 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 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive ClinVar PMID:11234013 PMID:19251209 PMID:22581653 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Cardiac Conduction Defect, Nonspecific 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 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by null ClinVar PMID:18464934 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:11234013 PMID:11748104 PMID:12569159 PMID:12574143 PMID:14523039 PMID:16922724 PMID:18065446 PMID:19251209 PMID:19606473 PMID:19716085 PMID:20025708 PMID:20031634 PMID:20129283 PMID:20384651 PMID:20539757 PMID:20564468 PMID:21552533 PMID:22581653 PMID:22885917 PMID:24136861 PMID:24573164 PMID:24815523 PMID:24948852 PMID:25624448 PMID:25637381 PMID:25741868 PMID:26022185 PMID:26031372 PMID:26916278 PMID:27082542 PMID:27554632 PMID:28492532 PMID:28781330 PMID:29167113 PMID:31191357 PMID:31866066 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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 Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868 PMID:30010057 NCBI chr 2:261,058,919...261,139,463 JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317 PMID:25741868 PMID:25791106 PMID:29355681 PMID:30010057 NCBI chr 2:261,069,210...261,337,294
Ensembl chr 2:261,069,203...261,337,163
JBrowse link
catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834 PMID:25741868 PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Calm1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
CTD
ClinVar
PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26309258 PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16601229 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19709828 PMID:20353949 PMID:20513597 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:23595086 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26230511 PMID:26671417 PMID:27930701 PMID:28074886 PMID:28404607 PMID:28492532 PMID:29032884 PMID:30729048 PMID:30847666 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:17105751 PMID:18678517 PMID:19039334 PMID:20031616 PMID:20031617 PMID:20716751 PMID:20864495 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISS MouseDO NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 PMID:19524666 PMID:23861362 PMID:23977161 PMID:24033266 PMID:24623722 PMID:24794538 PMID:25448463 PMID:25741868 PMID:28492532 PMID:28531892 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mt1m metallothionein 1M ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr20:3,677,460...3,677,838
Ensembl chr20:3,677,474...3,677,847
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar
CTD
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:11389482 PMID:12093772 PMID:12106942 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15131021 PMID:15175054 PMID:15197150 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15887426 PMID:15890976 PMID:16084945 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16391617 PMID:16436635 PMID:16517285 PMID:16769042 PMID:16818210 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17558603 PMID:17576681 PMID:17875969 PMID:18092949 PMID:18326664 PMID:18752142 PMID:19216760 PMID:19226252 PMID:19398665 PMID:19541610 PMID:19597050 PMID:19709828 PMID:19781797 PMID:19913485 PMID:19926015 PMID:20080988 PMID:20106799 PMID:20157052 PMID:20513597 PMID:20676041 PMID:20851825 PMID:20961976 PMID:21292648 PMID:21315846 PMID:21454795 PMID:21478052 PMID:21616285 PMID:21645850 PMID:21652165 PMID:21659649 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22515980 PMID:22584762 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23022705 PMID:23098067 PMID:23152493 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23479668 PMID:23595086 PMID:23651034 PMID:23757202 PMID:23820649 PMID:23861362 PMID:23871484 PMID:23934111 PMID:23978697 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24394973 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24728420 PMID:24743769 PMID:24793461 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25440180 PMID:25445213 PMID:25467552 PMID:25554238 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25713214 PMID:25741868 PMID:25814417 PMID:25835811 PMID:25844899 PMID:25925909 PMID:26018045 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26383259 PMID:26498160 PMID:26569459 PMID:26633542 PMID:26656175 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26899768 PMID:27054166 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27332903 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27650965 PMID:27727376 PMID:27733687 PMID:27756708 PMID:27930701 PMID:28087566 PMID:28100344 PMID:28125075 PMID:28150229 PMID:28166811 PMID:28202948 PMID:28237968 PMID:28404607 PMID:28416588 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28567303 PMID:28600387 PMID:28620067 PMID:28686619 PMID:28697927 PMID:28750076 PMID:28771489 PMID:28798025 PMID:28961276 PMID:28988457 PMID:29032884 PMID:29037160 PMID:29247119 PMID:29368431 PMID:29396286 PMID:29434162 PMID:29453246 PMID:29511324 PMID:29544605 PMID:29555771 PMID:29874177 PMID:29915097 PMID:30029678 PMID:30086531 PMID:30197081 PMID:30403697 PMID:30615648 PMID:30835254 PMID:30847666 PMID:31112425 PMID:31337358 PMID:31535183 PMID:32233023 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:26,662,851...26,735,878
Ensembl chr14:26,662,965...26,737,657
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trdn triadin ISO DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar PMID:9536098 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21520333 PMID:22406018 PMID:22422768 PMID:22909776 PMID:23035052 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:28492532, PMID:22422768 RGD:7327227 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912 PMID:22581653 PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12034872 PMID:14571276 PMID:17881003 PMID:18543230 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21454795 PMID:21618644 PMID:22421959 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26671417 PMID:27930701 PMID:28404607 PMID:28492532 PMID:30847666 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751 PMID:18678517 PMID:19039334 PMID:20031616 PMID:20031617 PMID:20716751 PMID:20864495 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 PMID:19524666 PMID:23861362 PMID:23977161 PMID:24033266 PMID:24623722 PMID:24794538 PMID:25448463 PMID:25741868 PMID:28492532 PMID:28531892 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15197150 PMID:15466642 PMID:15721128 PMID:15749201 PMID:15890976 PMID:16188589 PMID:16239587 PMID:16272262 PMID:16436635 PMID:16769042 PMID:16843546 PMID:16873551 PMID:17558603 PMID:17576681 PMID:17875969 PMID:17984046 PMID:18092949 PMID:18326664 PMID:18752142 PMID:19216760 PMID:19226252 PMID:19398665 PMID:19597050 PMID:19709828 PMID:19926015 PMID:20106799 PMID:20157052 PMID:20851825 PMID:21315846 PMID:21454795 PMID:21616285 PMID:21659649 PMID:21768539 PMID:21964171 PMID:22222782 PMID:22374134 PMID:22396703 PMID:22515980 PMID:22677073 PMID:22787013 PMID:23022705 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23595086 PMID:23820649 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25092222 PMID:25163546 PMID:25194972 PMID:25351510 PMID:25467552 PMID:25637381 PMID:25650408 PMID:25713214 PMID:25741868 PMID:25844899 PMID:25925909 PMID:26114861 PMID:26189708 PMID:26272908 PMID:26332594 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26899768 PMID:27054166 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27727376 PMID:27756708 PMID:27930701 PMID:28100344 PMID:28125075 PMID:28150229 PMID:28166811 PMID:28237968 PMID:28255936 PMID:28404607 PMID:28492532 PMID:28567303 PMID:28620067 PMID:28988457 PMID:29247119 PMID:29396286 PMID:29434162 PMID:29453246 PMID:29511324 PMID:29874177 PMID:30086531 PMID:30403697 PMID:31112425 PMID:31337358 PMID:32233023 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:611938
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2
ClinVar
OMIM
PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16908766 PMID:17881003 PMID:18543230 PMID:18684293 PMID:19709828 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21454795 PMID:21618644 PMID:22421959 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26196381 PMID:26671417 PMID:27157848 PMID:27930701 PMID:28074886 PMID:28404607 PMID:28492532 PMID:29032884 PMID:30847666 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by OMIM:614021
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 3
ClinVar
OMIM
PMID:17666061 PMID:25741868 PMID:27861123 PMID:30790670 NCBI chr14:26,662,851...26,735,878
Ensembl chr14:26,662,965...26,737,657
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 4 OMIM
ClinVar
PMID:23040497 PMID:23388215 PMID:23663249 PMID:24563457 PMID:24816216 PMID:24958779 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:26969752 PMID:27165696 PMID:27374306 PMID:27927985 PMID:28158429 PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441
OMIM
ClinVar
PMID:22422768 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:28492532 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgo1 shugoshin 1 ISO ClinVar Annotator: match by OMIM:616201
ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia
ClinVar
OMIM
PMID:25282101 PMID:25741868 NCBI chr 9:4,420,158...4,435,939
Ensembl chr 9:4,421,069...4,436,601
JBrowse link
familial atrial fibrillation 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 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:12522116 PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:17470695 PMID:19716085 PMID:19841300 PMID:21185501 PMID:22199116 PMID:22378279 PMID:22581653 PMID:22949429 PMID:23571586 PMID:24033266 PMID:24190995 PMID:25637381 PMID:25649125 PMID:25650408 PMID:25741868 PMID:25854863 PMID:25985138 PMID:26159999 PMID:26318259 PMID:28166811 PMID:28492532 PMID:28988457 PMID:29197658 PMID:30615648 PMID:31696929 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Myl4 myosin, light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
JBrowse link
G Nppa natriuretic peptide A ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nup155 nucleoporin 155 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Familial Atrial Fibrillation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 1 ClinVar NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
Familial Atrial Fibrillation 10 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 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 OMIM
ClinVar
PMID:3953067 PMID:10711933 PMID:11076825 PMID:11123251 PMID:11804990 PMID:11901046 PMID:12522116 PMID:15466643 PMID:15579534 PMID:15671429 PMID:15996170 PMID:15998690 PMID:16414944 PMID:16684018 PMID:18048769 PMID:18088563 PMID:18180363 PMID:18378609 PMID:19026623 PMID:19251209 PMID:19716085 PMID:19808477 PMID:19996378 PMID:20129283 PMID:20384651 PMID:20403459 PMID:20539757 PMID:21051419 PMID:21126620 PMID:21596231 PMID:21824921 PMID:22247482 PMID:22581653 PMID:22685113 PMID:23321620 PMID:23791817 PMID:23838598 PMID:24033266 PMID:24136861 PMID:24144883 PMID:24573164 PMID:24606995 PMID:24762805 PMID:24784157 PMID:24963427 PMID:25051102 PMID:25650408 PMID:25741868 PMID:25904541 PMID:26111534 PMID:26164358 PMID:26213684 PMID:26743238 PMID:27153395 PMID:28166811 PMID:28341781 PMID:28391114 PMID:28492532 PMID:29202755 PMID:29449639 PMID:29915097 PMID:32449611