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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 (peptidyl-dipeptidase A) 1 ISO associated with Kidney Failure, Chronic;DNA:insertion/deletion
CTD Direct Evidence: marker/mechanism
CTD PMID:15331425, PMID:16105049 RGD:8548864 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adm adrenomedullin ISO associated with Myocardial Ischemia RGD PMID:16715121 RGD:1625318 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1654493, PMID:2535056 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
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 chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by synonym: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
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 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES ClinVar NCBI chr 1:164,437,099...164,458,355
Ensembl chr 1:164,437,109...164,458,355
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6983645 NCBI chr 2:130,580,620...130,582,588
Ensembl chr 2:130,580,620...130,582,554
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit 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 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO RGD PMID:28469787 RGD:13513983 NCBI chr 9:107,399,733...107,529,346
Ensembl chr 9:107,399,612...107,529,343
JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:28492532 NCBI chr 2:14,603,861...14,988,811
Ensembl chr 2:14,603,088...14,987,908
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, PMID:30311386 NCBI chr 2:120,463,593...120,504,919
Ensembl chr 2:120,463,572...120,504,918
Ensembl chr 2:120,463,572...120,504,918
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 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Cd36 CD36 molecule severity ISO RGD PMID:22128087 RGD:6893560 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:26752647, PMID:30311386 NCBI chr 1:87,205,811...87,211,835
Ensembl chr 1:87,204,657...87,212,694
JBrowse link
G Cnnm2 cyclin M2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr19:46,756,834...46,878,580
Ensembl chr19:46,761,596...46,880,192
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:11739301 RGD:9495908 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:21606396, PMID:22000064, PMID:22214898, PMID:24033266, PMID:25741868, PMID:25820315, PMID:27532257, PMID:28492532, PMID:29178656, PMID:30311386, PMID:30454721 NCBI chr18:20,558,074...20,604,526
Ensembl chr18:20,558,074...20,604,521
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:16061754, PMID:16917092, PMID:20716751, PMID:24033266, PMID:24503780, PMID:25525159, PMID:25741868, PMID:27532257, PMID:28492532, PMID:28527814 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:23,310,006...23,659,719
Ensembl chr18:23,415,135...23,659,715
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12011762, PMID:15838369 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22166976 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fkbp1b FK506 binding protein 1b ISO associated with Myocardial Infarction RGD PMID:18570278 RGD:2302073 NCBI chr12:4,833,176...4,841,573
Ensembl chr12:4,833,174...4,841,591
JBrowse link
G Gja1 gap junction protein, alpha 1 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:18003637, PMID:18077386, PMID:23951191 RGD:8662422 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gnai2 guanine nucleotide binding protein (G protein), alpha inhibiting 2 treatment ISO associated with Myocardial Reperfusion Injury RGD PMID:11941407 RGD:13508594 NCBI chr 9:107,614,125...107,635,391
Ensembl chr 9:107,614,125...107,635,367
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
G Gyg glycogenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 3:20,122,083...20,155,117
Ensembl chr 3:20,122,084...20,155,317
JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr 9:58,822,949...58,863,175
Ensembl chr 9:58,823,412...58,863,175
JBrowse link
G Htr4 5 hydroxytryptamine (serotonin) receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9806222 NCBI chr18:62,323,546...62,503,027
Ensembl chr18:62,324,204...62,496,577
JBrowse link
G Itga2 integrin alpha 2 no_association ISO RGD PMID:10822074 RGD:1582305 NCBI chr13:114,833,081...114,932,100
Ensembl chr13:114,833,081...114,932,100
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 chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO
IMP
associated with Myocardial Infarction
ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar PMID:20381460, PMID:14561835 RGD:7242918, RGD:12910697 NCBI chr16:92,346,001...92,359,468
Ensembl chr16:92,345,982...92,359,468
JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 2 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:30311386, PMID:20381460 RGD:7242918 NCBI chr16:92,292,389...92,298,133
Ensembl chr16:92,292,389...92,298,129
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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:9927399, PMID:10187793, PMID:10483966, PMID:10807545, PMID:10862094, PMID:10973849, PMID:11334843, PMID:11468227, PMID:11668641, 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:16922724, PMID:17060380, PMID:17088455, PMID:17161064, PMID:17210839, PMID:17224687, PMID:17275752, PMID:17531263, 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: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: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: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: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:27816319, PMID:27920829, PMID:27930701, 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:29752375, PMID:29759541, PMID:29766885, PMID:29884292, PMID:30086531, PMID:30311386 NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
JBrowse link
G Kcnip2 Kv channel-interacting protein 2 IMP RGD PMID:11747815 RGD:737786 NCBI chr19:45,792,346...45,816,422
Ensembl chr19:45,791,839...45,816,061
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 chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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 6:142,564,837...142,571,614
Ensembl chr 6:142,564,837...142,571,614
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: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: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: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:23861362, PMID:23861489, PMID:23890619, PMID:23995044, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24190995, PMID:24223155, PMID:24284363, PMID:24291113, PMID:24357532, PMID:24372464, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24667783, PMID:24681627, PMID:24762593, PMID:24912595, PMID:24920132, PMID:24947509, PMID:25037568, PMID:25187895, PMID:25236808, PMID:25294783, PMID:25344363, PMID:25348405, PMID:25351510, PMID:25447171, PMID:25559286, PMID:25608792, PMID:25637381, PMID:25705178, PMID:25741868, PMID:25845942, PMID:25854863, PMID:25935074, PMID:25985138, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26159999, PMID:26228265, 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:27816319, PMID:27831900, PMID:27884173, PMID:27917693, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28600177, PMID:28619993, PMID:28704380, PMID:28720088, PMID:28794082, PMID:28944242, PMID:28988457, PMID:29021305, PMID:29197658, PMID:29247119, PMID:29330128, PMID:29379719, PMID:29532034, PMID:29740400, PMID:29876285, PMID:29952348, PMID:30302399, PMID:30571187, PMID:30615648, PMID:30758498, PMID:32238909 NCBI chr 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:12402336, PMID:12442276, PMID:18752142, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:143,213,111...143,296,547
Ensembl chr 7:143,203,458...143,296,549
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: therapeutic CTD PMID:2535056 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
JBrowse link
G Lig3 ligase III, DNA, ATP-dependent ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES ClinVar NCBI chr11:82,781,109...82,804,274
Ensembl chr11:82,781,108...82,804,274
JBrowse link
G Lmna lamin A IAGP RGD PMID:18182166 RGD:2306092 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 IMP RGD PMID:21454599 RGD:7495828 NCBI chr11:65,688,244...65,788,359
Ensembl chr11:65,688,243...65,788,297
JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Nme7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr 1:164,307,524...164,437,300
Ensembl chr 1:164,304,121...164,437,725
JBrowse link
G Nos1ap nitric oxide synthase 1 (neuronal) adaptor protein ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr 1:170,315,467...170,589,849
Ensembl chr 1:170,302,668...170,589,861
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Nppa natriuretic peptide type A ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:17460430, PMID:25741868 NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 6 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:28492532 NCBI chr 2:14,990,444...15,055,144
Ensembl chr 2:14,995,131...15,055,069
JBrowse link
G Oprd1 opioid receptor, delta 1 ISO RGD PMID:10900218 RGD:2316592 NCBI chr 4:132,110,188...132,144,486
Ensembl chr 4:132,110,726...132,144,486
JBrowse link
G Oprk1 opioid receptor, kappa 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16995444, PMID:15076225 RGD:9831425 NCBI chr 1:5,588,450...5,606,134
Ensembl chr 1:5,588,466...5,606,131
JBrowse link
G Oprl1 opioid receptor-like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16995444 NCBI chr 2:181,715,000...181,720,985
Ensembl chr 2:181,715,016...181,720,985
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:30311386, PMID:30562116 NCBI chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Ppp1r1a protein phosphatase 1, regulatory inhibitor subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr15:103,530,279...103,538,027
Ensembl chr15:103,530,279...103,538,003
JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:154,316,122...154,637,360
Ensembl chr 4:154,316,125...154,636,873
JBrowse link
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:24,862,735...25,106,282
Ensembl chr 5:24,862,744...25,100,642
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19376970 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868, PMID:28492532 NCBI chr11:68,972,484...68,975,185
Ensembl chr11:68,972,484...68,975,185
JBrowse link
G Rrad Ras-related associated with diabetes IMP RGD PMID:17525370 RGD:2311702 NCBI chr 8:104,628,070...104,631,350
Ensembl chr 8:104,628,070...104,631,327
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by synonym: EXTRASYSTOLES
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn3b sodium channel, voltage-gated, type III, beta ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:27435932 NCBI chr 9:40,269,216...40,291,618
Ensembl chr 9:40,269,217...40,291,618
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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:9753711, PMID:10471492, 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:12736279, 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:15655131, 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:16684018, 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: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:20100972, 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: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:23237912, PMID:23293604, PMID:23299917, PMID:23321620, PMID:23382499, PMID:23414114, 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: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:24721456, PMID:24721642, PMID:24736382, PMID:24762593, PMID:24762805, PMID:24784157, PMID:24795344, PMID:24815523, PMID:24892747, PMID:24951663, PMID:24981977, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25119684, PMID:25163546, PMID:25171853, PMID:25172307, PMID:25194972, PMID:25210526, PMID:25274057, PMID:25326637, PMID:25344691, PMID:25348405, PMID:25351510, PMID:25370050, PMID:25410959, PMID:25460174, PMID:25554238, 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: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:27871843, PMID:27896284, PMID:27930701, PMID:28018021, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28087622, PMID:28150151, PMID:28183570, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28323875, PMID:28341588, PMID:28341781, 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:29016939, PMID:29032884, PMID:29121719, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29449639, PMID:29517769, PMID:29540472, PMID:29540853, PMID:29574140, PMID:29672598, PMID:29728395, PMID:29759522, PMID:29764897, PMID:29773157, 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:30244407, PMID:30254039, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450, PMID:30690642, PMID:31262209, PMID:31333075, PMID:31568572, PMID:31680123 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Sgo1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25282101 NCBI chr17:53,674,786...53,691,331
Ensembl chr17:53,674,786...53,689,333
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868, PMID:28492532 NCBI chr11:68,968,096...68,972,516
Ensembl chr11:68,968,131...68,974,365
JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO RGD PMID:15454275 RGD:1581234 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868, PMID:26805781, PMID:26805782, PMID:29369572, PMID:32576985 NCBI chr16:18,300,825...18,348,098
Ensembl chr16:18,300,825...18,348,103
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:98,383,811...98,384,953
Ensembl chr11:98,383,811...98,384,953
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6813757 NCBI chr 6:92,242,061...92,244,650
Ensembl chr 6:92,242,061...92,244,650
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
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: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: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:28341588, PMID:28492532, PMID:28501311, PMID:29017447, PMID:29874177, PMID:30311386, PMID:30516834 NCBI chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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 9:32,314,706...32,344,380
Ensembl chr 9:32,314,707...32,344,350
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, brain 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:27875062, PMID:28074886, PMID:28492532, PMID:28600387, PMID:28736713, PMID:28750076, PMID:29198934, PMID:29247119, PMID:29431110, PMID:29790872, PMID:29874177, PMID:30615648 NCBI chr 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930522H14Rik RIKEN cDNA 4930522H14 gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:109,505,332...109,531,297
Ensembl chr 4:109,505,337...109,531,297
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 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 chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Agbl4 ATP/GTP binding protein-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:110,397,649...111,664,324
Ensembl chr 4:110,397,661...111,664,324
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr13:30,336,356...30,382,867
Ensembl chr13:30,336,441...30,382,867
JBrowse link
G Akap6 A kinase (PRKA) anchor protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:52,698,588...53,155,568
Ensembl chr12:52,699,383...53,155,599
JBrowse link
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Ank2 ankyrin 2, brain onset IMP
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 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015, PMID:30061737 NCBI chr13:62,964,893...63,326,096
Ensembl chr13:62,964,893...63,326,096
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:48,025,146...48,034,853
Ensembl chr  X:48,025,146...48,034,853
JBrowse link
G Arhgap10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:77,250,366...77,517,999
Ensembl chr 8:77,250,366...77,517,953
JBrowse link
G Armh3 armadillo-like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr19:45,817,362...45,998,632
Ensembl chr19:45,817,364...45,998,488
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:84,246,274...84,411,741
Ensembl chr 7:84,246,278...84,410,176
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:41,340,646...41,397,644
Ensembl chr 8:41,340,197...41,374,773
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr13:45,549,755...45,964,991
Ensembl chr13:45,549,755...45,965,008
JBrowse link
G Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981
JBrowse link
G Best3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:116,986,314...117,025,687
Ensembl chr10:116,986,314...117,025,040
JBrowse link
G Calu calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:29,348,106...29,376,675
Ensembl chr 6:29,348,069...29,377,110
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II, delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:126,595,487...126,846,326
Ensembl chr 3:126,596,302...126,846,326
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 6:115,774,557...115,805,555
Ensembl chr 6:115,774,538...115,805,557
JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Casz1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:148,804,366...148,954,893
Ensembl chr 4:148,804,429...148,954,889
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:22544366, PMID:29892015 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 6:17,281,185...17,289,130
Ensembl chr 6:17,281,185...17,289,115
JBrowse link
G Cd36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd40 CD40 antigen treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:3,341,004...3,531,008
Ensembl chr 5:3,341,485...3,531,008
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism
CTD PMID:29892015, PMID:16043935 RGD:8662360 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cep68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:20,227,037...20,249,424
Ensembl chr11:20,227,037...20,249,429
JBrowse link
G Cfl2 cofilin 2, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr12:54,858,815...54,862,877
Ensembl chr12:54,858,809...54,862,877
JBrowse link
G Cga glycoprotein hormones, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:34,893,779...34,907,374
Ensembl chr 4:34,893,779...34,907,370
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:31,654,819...31,937,630
Ensembl chr12:31,654,869...31,937,630
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:53,287,226...53,700,364
Ensembl chr 6:53,287,270...53,700,376
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: RGD PMID:18811807, PMID:19645035 RGD:9491838, RGD:9491839 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:13,105,623...13,147,940
Ensembl chr 8:13,105,621...13,147,940
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Cyth1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:118,164,170...118,248,616
Ensembl chr11:118,132,019...118,248,592
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Dgkb diacylglycerol kinase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:37,880,169...38,634,239
Ensembl chr12:37,817,726...38,634,239
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:124,725,085...124,834,308
Ensembl chr 5:124,725,085...124,834,308
JBrowse link
G Dpf3 D4, zinc and double PHD fingers, family 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:83,213,751...83,487,736
Ensembl chr12:83,213,745...83,487,716
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 chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Epha3 Eph receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr16:63,543,532...63,864,175
Ensembl chr16:63,543,534...63,864,175
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:110,361,751...110,448,503
Ensembl chr 5:110,361,754...110,448,602
JBrowse link
G Fbxo32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:58,175,879...58,214,892
Ensembl chr15:58,175,879...58,214,932
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:98,254,184...98,277,033
Ensembl chr 5:98,254,184...98,277,030
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Frmd4b FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:97,286,867...97,617,657
Ensembl chr 6:97,286,867...97,617,541
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:63,198,914...63,271,712
Ensembl chr14:63,198,922...63,271,692
JBrowse link
G Gja1 gap junction protein, alpha 1 susceptibility ISO
IMP
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 chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
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 3:97,032,402...97,053,634
Ensembl chr 3:96,904,693...97,077,416
JBrowse link
G Gnb4 guanine nucleotide binding protein (G protein), beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:32,578,587...32,616,673
Ensembl chr 3:32,580,332...32,616,585
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:52,337,024...52,382,124
Ensembl chr10:52,335,850...52,382,124
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:103,676,849...103,697,723
Ensembl chr11:103,676,849...103,697,898
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:134,237,832...134,317,678
Ensembl chr 5:134,237,834...134,314,760
JBrowse link
G Gypc glycophorin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:32,528,320...32,560,034
Ensembl chr18:32,528,322...32,560,034
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 chr 8:57,320,983...57,324,517
Ensembl chr 8:57,320,983...57,324,633
JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 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 9:58,822,949...58,863,175
Ensembl chr 9:58,823,412...58,863,175
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 9:66,350,412...66,508,775
Ensembl chr 9:66,350,450...66,508,775
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:right atrium appendage, cytoplasm (human) RGD PMID:19211267 RGD:8695924 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:123,973,602...124,003,215
Ensembl chr 5:123,973,628...124,005,558
JBrowse link
G Hsf2 heat shock factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:57,483,766...57,513,143
Ensembl chr10:57,486,385...57,513,135
JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:137,468,751...137,570,630
Ensembl chr 4:137,468,769...137,570,630
JBrowse link
G Htr4 5 hydroxytryptamine (serotonin) receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr18:62,323,546...62,503,027
Ensembl chr18:62,324,204...62,496,577
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr12:86,880,703...86,884,814
Ensembl chr12:86,880,701...86,884,798
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcnd3 potassium voltage-gated channel, Shal-related family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr 3:105,451,890...105,674,002
Ensembl chr 3:105,452,330...105,674,002
JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr16:92,346,001...92,359,468
Ensembl chr16:92,345,982...92,359,468
JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 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 chr16:92,292,389...92,298,133
Ensembl chr16:92,292,389...92,298,129
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
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 chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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 9:32,314,706...32,344,380
Ensembl chr 9:32,314,707...32,344,350
JBrowse link
G Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:45,268,750...45,685,887
Ensembl chr18:45,268,860...45,686,024
JBrowse link
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20173747, PMID:30061737 NCBI chr 3:89,520,164...89,672,494
Ensembl chr 3:89,520,164...89,675,132
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 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Kdm1b lysine (K)-specific demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr13:47,043,373...47,085,279
Ensembl chr13:47,043,499...47,085,279
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:3,365,132...3,406,494
Ensembl chr12:3,365,132...3,406,494
JBrowse link
G Lhx3 LIM homeobox protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
JBrowse link
G Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:94,604,529...94,700,298
Ensembl chr 6:94,604,529...94,700,158
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:22,019,504...23,056,093
Ensembl chr14:22,019,712...23,056,085
JBrowse link
G Lrrc10 leucine rich repeat containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:117,045,341...117,046,768
Ensembl chr10:117,045,341...117,046,768
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:104,229,409...104,332,090
Ensembl chr11:104,231,390...104,332,090
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 2:48,949,499...49,319,688
Ensembl chr 2:48,949,508...49,325,405
JBrowse link
G Mex3c mex3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:73,572,637...73,592,578
Ensembl chr18:73,573,044...73,592,575
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr15:68,337,415...68,337,510
Ensembl chr15:68,337,415...68,337,510
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:19734590, PMID:20935575 RGD:8549736, RGD:8693675 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
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 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:54,941,921...54,968,017
Ensembl chr14:54,941,921...54,966,927
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:25741868, PMID:29892015, PMID:30061737 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:112,688,876...112,896,461
Ensembl chr 5:112,688,876...112,896,362
JBrowse link
G Myo1c myosin IC ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:75,650,519...75,674,643
Ensembl chr11:75,650,504...75,673,910
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:65,173,608...65,269,989
Ensembl chr11:65,176,561...65,269,989
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:44,334,053...44,355,740
Ensembl chr18:44,334,074...44,355,724
JBrowse link
G Myoz1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:20,649,102...20,656,540
Ensembl chr14:20,649,107...20,656,540
JBrowse link
G Mypn myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:63,115,795...63,203,952
Ensembl chr10:63,115,795...63,203,952
JBrowse link
G Naca nascent polypeptide-associated complex alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:128,035,346...128,048,637
Ensembl chr10:128,035,575...128,048,637
JBrowse link
G Nav2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:48,959,063...49,610,090
Ensembl chr 7:48,908,716...49,610,090
JBrowse link
G Nebl nebulette ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr 2:17,342,673...17,734,949
Ensembl chr 2:17,343,909...17,731,464
JBrowse link
G Neurl1a neuralized E3 ubiquitin protein ligase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr19:47,178,820...47,259,441
Ensembl chr19:47,178,820...47,259,441
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppb natriuretic peptide type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:39,410,545...39,519,421
Ensembl chr18:39,410,545...39,519,421
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:131,910,458...131,936,321
Ensembl chr 1:131,910,534...131,936,321
JBrowse link
G Opn1sw opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:29,376,671...29,380,513
Ensembl chr 6:29,376,671...29,388,468
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr16:32,016,290...32,079,342
Ensembl chr16:32,016,290...32,079,342
JBrowse link
G Phlda1 pleckstrin homology like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:111,506,286...111,508,649
Ensembl chr10:111,506,286...111,508,645
JBrowse link
G Phldb2 pleckstrin homology like domain, family B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr16:45,746,230...45,953,598
Ensembl chr16:45,746,243...45,953,598
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Pkp2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:53,337,686...53,345,999
Ensembl chr10:53,337,667...53,345,987
JBrowse link
G Ppfia4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr 1:134,296,783...134,344,756
Ensembl chr 1:134,296,783...134,332,928
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 9:101,104,989...101,251,832
Ensembl chr 9:101,105,084...101,251,795
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr 1:163,245,119...163,315,145
Ensembl chr 1:163,245,119...163,313,710
JBrowse link
G Psmb7 proteasome (prosome, macropain) subunit, beta type 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 2:38,588,046...38,643,952
Ensembl chr 2:38,588,036...38,644,087
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:73,205,102...73,423,820
Ensembl chr15:73,205,102...73,423,280
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr19:53,660,989...53,867,083
Ensembl chr19:53,677,306...53,867,080
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:71,707,429...71,810,710
Ensembl chr 6:71,707,561...71,810,710
JBrowse link
G Reep3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:67,009,189...67,096,988
Ensembl chr10:67,009,189...67,096,945
JBrowse link
G Ren1 renin 1 structural ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr 1:133,350,674...133,360,320
Ensembl chr 1:133,350,510...133,360,325
JBrowse link
G Rpl3l ribosomal protein L3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr17:24,727,826...24,736,143
Ensembl chr17:24,727,820...24,736,143
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:24,718,121...24,721,927
Ensembl chr17:24,718,116...24,721,929
JBrowse link
G Scmh1 sex comb on midleg homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:120,405,150...120,530,200
Ensembl chr 4:120,405,281...120,530,186
JBrowse link
G Scn10a sodium channel, voltage-gated, type X, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr 9:119,608,456...119,719,322
Ensembl chr 9:119,608,456...119,719,322
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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:28202948, PMID:28341781, PMID:28492532, PMID:29449639, PMID:30061737 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Sele selectin, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr 1:164,039,614...164,058,487
Ensembl chr 1:164,048,234...164,057,677
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr19:47,260,174...47,464,612
Ensembl chr19:47,260,174...47,464,401
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:63,319,005...63,339,035
Ensembl chr10:63,319,005...63,381,704
JBrowse link
G Slc27a6 solute carrier family 27 (fatty acid transporter), member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:58,556,240...58,612,869
Ensembl chr18:58,556,257...58,612,773
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:52,690,501...53,111,622
Ensembl chr10:52,690,533...53,111,622
JBrowse link
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:135,347,993...135,397,827
Ensembl chr 3:135,348,029...135,397,827
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:35,121,456...35,708,507
Ensembl chr11:35,121,224...35,708,507
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:75,367,365...75,395,935
Ensembl chr18:75,367,529...75,395,935
JBrowse link
G Snrnp27 small nuclear ribonucleoprotein 27 (U4/U6.U5) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:86,675,169...86,684,491
Ensembl chr 6:86,675,151...86,684,522
JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664, PMID:25741868 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) RGD PMID:21954878 RGD:8655869 NCBI chr16:90,220,762...90,226,333
Ensembl chr16:90,220,754...90,226,329
JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 9:41,964,709...42,124,297
Ensembl chr 9:41,964,720...42,124,297
JBrowse link
G Sox15 SRY (sex determining region Y)-box 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:69,655,037...69,656,727
Ensembl chr11:69,655,314...69,656,727
JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 6:143,828,425...144,782,287
Ensembl chr 6:143,828,425...144,781,977
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:57,774,102...57,948,398
Ensembl chr 1:57,774,162...57,948,394
JBrowse link
G Sspn sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:145,931,873...145,965,225
Ensembl chr 6:145,931,641...145,965,223
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:139,200,564...139,249,839
Ensembl chr 5:139,200,637...139,249,840
JBrowse link
G Syne2 spectrin repeat containing, nuclear envelope 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015 NCBI chr12:75,818,318...76,110,928
Ensembl chr12:75,818,134...76,110,926
JBrowse link
G Synpo2l synaptopodin 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:20,658,945...20,668,354
Ensembl chr14:20,658,946...20,668,354
JBrowse link
G Tbx5 T-box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:119,796,514...119,885,220
Ensembl chr 5:119,832,668...119,885,219
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:17,659,225...18,040,097
Ensembl chr14:17,660,261...18,038,090
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tnf tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:69,686,240...69,696,098
Ensembl chr11:69,686,250...69,695,849
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:20890277, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26383259, PMID:26498160, PMID:26516846, PMID:28492532, PMID:29892015, PMID:30061737 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tuba8 tubulin, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:121,210,734...121,226,098
Ensembl chr 6:121,210,696...121,226,854
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:149,328,416...149,428,161
Ensembl chr 4:149,328,416...149,426,749
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 9:66,514,639...66,593,148
Ensembl chr 9:66,514,637...66,593,142
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:23,303,185...23,490,560
Ensembl chr11:23,306,895...23,490,560
JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:8,204,753...8,518,825
Ensembl chr10:8,204,756...8,518,825
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vwf Von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461, PMID:21497043 RGD:7205648 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:38,526,806...38,562,922
Ensembl chr 5:38,526,813...38,563,221
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 2:73,429,610...73,529,487
Ensembl chr 2:73,429,610...73,529,734
JBrowse link
G Wnt3 wingless-type MMTV integration site family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:103,774,175...103,818,021
Ensembl chr11:103,774,150...103,817,957
JBrowse link
G Wnt8a wingless-type MMTV integration site family, member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr18:34,542,327...34,548,061
Ensembl chr18:34,542,313...34,548,273
JBrowse link
G Xpo1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:23,255,909...23,297,597
Ensembl chr11:23,256,041...23,298,249
JBrowse link
G Xpo7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:70,662,126...70,770,864
Ensembl chr14:70,654,246...70,766,628
JBrowse link
G Xxylt1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr16:30,955,347...31,081,432
Ensembl chr16:30,955,144...31,081,432
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 chr 8:108,279,311...108,961,636
Ensembl chr 8:107,942,644...108,961,630
JBrowse link
G Zfp462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:54,944,491...55,083,563
Ensembl chr 4:54,945,048...55,083,563
JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:98,551,097...98,558,665
Ensembl chr11:98,551,097...98,558,665
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
IEA
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
OMIM:108900
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
MouseDO
PMID:1260978, PMID:9651244, PMID:10021345, PMID:10587520, PMID:10903346, PMID:10943630, PMID:10948187, PMID:11714651, PMID:12414819, PMID:12798584, PMID:13050604, 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:20659440, PMID:20725931, PMID:20807224, PMID:21091212, PMID:21110066, PMID:21165553, PMID:21450989, PMID:21561848, PMID:21677783, PMID:22498567, PMID:22920929, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:24880466, PMID:25205790, PMID:25319568, PMID:25741868, PMID:25742962, PMID:26014430, PMID:26421664, PMID:26679770, PMID:27013732, PMID:28492532, PMID:29037160, PMID:30240412, PMID:30611920 NCBI chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
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:21091212, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:25741868, PMID:25742962, PMID:28492532, PMID:29037160, PMID:30611920 NCBI chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
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:28457700, PMID:28492532 NCBI chr 3:97,032,402...97,053,634
Ensembl chr 3:96,904,693...97,077,416
JBrowse link
G Nppa natriuretic peptide type A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 guanine nucleotide binding protein (G protein), alpha inhibiting 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 9:107,614,125...107,635,391
Ensembl chr 9:107,614,125...107,635,367
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:30311386 NCBI chr 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
JBrowse link
G Lmna lamin A ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10580070, PMID:25469153 RGD:12791032 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr14:54,941,921...54,968,017
Ensembl chr14:54,941,921...54,966,927
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 chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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, PMID:30311386 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 chr10:45,335,735...45,372,484
Ensembl chr10:45,335,772...45,372,479
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 chr 1:134,199,215...134,235,457
Ensembl chr 1:134,199,223...134,235,431
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO CTD Direct Evidence: therapeutic CTD PMID:9519251 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Bradycardia ClinVar PMID:16043807, PMID:26467025, PMID:30311386 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr14:30,039,941...30,491,156
Ensembl chr14:30,039,939...30,491,455
JBrowse link
G Chrm2 cholinergic receptor, muscarinic 2, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181912 NCBI chr 6:36,387,991...36,528,638
Ensembl chr 6:36,388,084...36,528,414
JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6093200 NCBI chr 3:19,693,401...19,695,396
Ensembl chr 3:19,693,401...19,695,396
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19284319 NCBI chr15:82,370,527...82,380,260
Ensembl chr15:82,370,527...82,380,260
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1724532, PMID:10626749 NCBI chr 9:49,340,360...49,408,177
Ensembl chr 9:49,340,627...49,408,177
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933, PMID:8440307 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Edn2 endothelin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr 4:120,161,206...120,167,360
Ensembl chr 4:120,161,206...120,167,360
JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr 2:174,760,619...174,784,042
Ensembl chr 2:174,760,619...174,784,042
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:3277781, PMID:3736332, PMID:6542785, PMID:7787496, PMID:9674488 NCBI chr 2:62,474,530...62,483,653
Ensembl chr 2:62,474,530...62,483,650
JBrowse link
G Gnai2 guanine nucleotide binding protein (G protein), alpha inhibiting 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 9:107,614,125...107,635,391
Ensembl chr 9:107,614,125...107,635,367
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr14:67,745,181...67,749,440
Ensembl chr14:67,745,181...67,749,439
JBrowse link
G Htr1a 5-hydroxytryptamine (serotonin) receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:2207497 NCBI chr13:105,443,693...105,448,133
Ensembl chr13:105,443,639...105,448,122
JBrowse link
G Ins1 insulin I EXP CTD Direct Evidence: therapeutic CTD PMID:3525850 NCBI chr19:52,264,297...52,265,015
Ensembl chr19:52,264,297...52,265,476
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281941 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
JBrowse link
G Lhb luteinizing hormone beta ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr 7:45,417,608...45,421,855
Ensembl chr 7:45,420,820...45,421,897
Ensembl chr 7:45,420,820...45,421,897
JBrowse link
G Mc4r melanocortin 4 receptor ISO RGD PMID:24400148 RGD:13825242 NCBI chr18:66,857,705...66,860,487
Ensembl chr18:66,857,704...66,860,506
JBrowse link
G Nisch nischarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11486246 NCBI chr14:31,170,928...31,206,826
Ensembl chr14:31,170,930...31,216,946
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:2326505 NCBI chr10:102,481,756...102,490,418
Ensembl chr10:102,481,756...102,490,486
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337, PMID:6131355, PMID:6716269 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337, PMID:2636709, PMID:19039989 NCBI chr12:3,954,945...3,960,643
Ensembl chr12:3,954,951...3,960,642
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Slc30a5 solute carrier family 30 (zinc transporter), member 5 IMP RGD PMID:12095919 RGD:1580628 NCBI chr13:100,802,645...100,833,480
Ensembl chr13:100,802,648...100,833,427
JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2445440, PMID:8960879, PMID:2471579 RGD:2305984 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
JBrowse link
G Tacr1 tachykinin receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:9696263 NCBI chr 6:82,402,003...82,560,104
Ensembl chr 6:82,402,334...82,560,104
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6350720, PMID:6813757 NCBI chr 6:92,242,061...92,244,650
Ensembl chr 6:92,242,061...92,244,650
JBrowse link
G Uts2 urotensin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16160878 NCBI chr 4:150,997,097...151,001,810
Ensembl chr 4:150,997,097...151,001,810
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, sub-family C (CFTR/MRP), member 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 6:142,587,862...142,702,766
Ensembl chr 6:142,587,862...142,702,315
JBrowse link
G Acaa1b acetyl-Coenzyme A acyltransferase 1B ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,148,043...119,157,093
Ensembl chr 9:119,148,023...119,157,093
JBrowse link
G Acvr2b activin receptor IIB ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,401,583...119,442,148
Ensembl chr 9:119,402,118...119,434,995
JBrowse link
G Ank2 ankyrin 2, brain 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 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Ankrd1 ankyrin repeat domain 1 (cardiac muscle) ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr19:36,111,965...36,119,844
Ensembl chr19:36,111,961...36,120,099
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit 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:12166659, PMID:17224476, PMID:20031608, PMID:20817017, PMID:22385640, PMID:22581653, PMID:22840528, PMID:23414114, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24183960, PMID:24439875, PMID:25333069, PMID:25447171, PMID:25633834, PMID:25637381, PMID:25661095, PMID:25741868, PMID:25974115, PMID:26159999, PMID:26230511, PMID:26498160, PMID:27231019, PMID:27662471, PMID:27711072, PMID:28341588, PMID:28492532, PMID:28750076, PMID:30172029, PMID:30279520, PMID:30311386, PMID:30662450 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
G Cacna2d1 calcium channel, voltage-dependent, alpha2/delta subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017, PMID:21383000, PMID:22840528, PMID:23414114, PMID:25527503, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532 NCBI chr 5:15,934,264...16,374,511
Ensembl chr 5:15,934,691...16,374,511
JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit 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:27711072, PMID:28492532 NCBI chr 2:14,603,861...14,988,811
Ensembl chr 2:14,603,088...14,987,908
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Ctdspl CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:118,926,536...119,044,119
Ensembl chr 9:118,926,453...119,043,998
JBrowse link
G Dlec1 deleted in lung and esophageal cancer 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,102,444...119,148,246
Ensembl chr 9:119,102,478...119,148,246
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 chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Exog endo/exonuclease (5'-3'), endonuclease G-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,444,925...119,465,518
Ensembl chr 9:119,444,943...119,465,517
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: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:28492532, PMID:28798025, PMID:28837624, PMID:29077258, PMID:30311386, PMID:30662450 NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 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 9:58,822,949...58,863,175
Ensembl chr 9:58,823,412...58,863,175
JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr10:30,832,359...30,842,783
Ensembl chr10:30,832,359...30,842,801
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 7:45,335,269...45,338,973
Ensembl chr 7:45,335,290...45,338,974
JBrowse link
G Itga9 integrin alpha 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:118,606,709...118,901,003
Ensembl chr 9:118,606,690...118,901,003
JBrowse link
G Kcnd3 potassium voltage-gated channel, Shal-related family, member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:105,451,890...105,674,002
Ensembl chr 3:105,452,330...105,674,002
JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 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 chr16:92,346,001...92,359,468
Ensembl chr16:92,345,982...92,359,468
JBrowse link
G Kcne1l potassium voltage-gated channel, Isk-related family, member 1-like, pseudogene ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr  X:142,304,753...142,306,198
Ensembl chr  X:142,304,752...142,306,294
JBrowse link
G Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:19122847, PMID:19306396, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:100,176,507...100,184,869
Ensembl chr 7:100,176,502...100,184,869
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), 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 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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 6:142,564,837...142,571,614
Ensembl chr 6:142,564,837...142,571,614
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 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr10:38,965,515...39,110,188
Ensembl chr10:38,965,515...39,110,188
JBrowse link
G Mir26a-1 microRNA 26a-1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,031,796...119,031,885
Ensembl chr 9:119,031,796...119,031,885
JBrowse link
G Mybpc3 myosin binding protein C, cardiac 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 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:27789736, PMID:28492532, PMID:29332214 NCBI chr14:54,941,921...54,968,017
Ensembl chr14:54,941,921...54,966,927
JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 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:24752249, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28492532 NCBI chr 2:14,990,444...15,055,144
Ensembl chr 2:14,995,131...15,055,069
JBrowse link
G Oxsr1 oxidative-stress responsive 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,238,432...119,322,684
Ensembl chr 9:119,238,432...119,322,427
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 chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
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 9:119,071,527...119,093,502
Ensembl chr 9:119,071,527...119,093,502
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn10a sodium channel, voltage-gated, type X, alpha ISO ClinVar Annotator: match by term: Brugada syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1309182, PMID:11527630, PMID:11901046, PMID:12417552, PMID:15381640, PMID:15655131, PMID:16943940, 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:26733327, PMID:27272739, PMID:28078312, PMID:28407228, PMID:28492532, PMID:29247119, PMID:30135145, PMID:32581362 NCBI chr 9:119,608,456...119,719,322
Ensembl chr 9:119,608,456...119,719,322
JBrowse link
G Scn11a sodium channel, voltage-gated, type XI, alpha ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,753,763...119,825,456
Ensembl chr 9:119,753,759...119,825,456
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:15671291, PMID:19522081, PMID:20226894, PMID:20662403, PMID:22155597, PMID:23861362, PMID:24529773, PMID:24662403, PMID:25668026, PMID:25741868, PMID:26042039, PMID:26467025, PMID:28492532 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn3b sodium channel, voltage-gated, type III, beta 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:20031595, PMID:21051419, PMID:22284586, PMID:23257389, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:25650408, PMID:25741868, PMID:25757662, PMID:28492532, PMID:29247119 NCBI chr 9:40,269,216...40,291,618
Ensembl chr 9:40,269,217...40,291,618
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD Direct Evidence: marker/mechanism
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:9686753, PMID:9753711, 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: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:12736279, 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:15655131, 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: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: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:20100972, 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: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: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:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24709866, 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:24981977, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25119684, PMID:25163546, PMID:25171853, PMID:25172307, PMID:25179549, PMID:25194972, PMID:25210054, PMID:25210526, PMID:25274057, PMID:25326637, PMID:25344691, PMID:25348405, PMID:25351510, PMID:25370050, PMID:25410959, PMID:25460174, 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:26022185, PMID:26031372, PMID:26036855, PMID:26066609, PMID:26111534, PMID:26129877, PMID:26131924, 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: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:28150151, PMID:28183570, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28323875, PMID:28341588, PMID:28341781, PMID:28344931, 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:29016939, PMID:29032884, PMID:29121719, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29449639, PMID:29517769, PMID:29540472, PMID:29540853, PMID:29574140, PMID:29652902, PMID:29672598, PMID:29728395, PMID:29759522, PMID:29759671, PMID:29764897, PMID:29773157, 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:30232268, PMID:30244407, PMID:30254039, PMID:30311386, PMID:30364184, PMID:30371189, PMID:30419068, PMID:30662450, PMID:30690642, PMID:30828344, PMID:31191357, PMID:31262209, PMID:31333075, PMID:31477192, PMID:31568572, PMID:31680123 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Slc22a13 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 9:119,192,966...119,209,105
Ensembl chr 9:119,192,974...119,209,098
JBrowse link
G Slc22a14 solute carrier family 22 (organic cation transporter), member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,169,453...119,190,430
Ensembl chr 9:119,169,455...119,365,553
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr14:26,413,168...26,534,624
Ensembl chr14:26,413,168...26,534,931
JBrowse link
G Snta1 syntrophin, acidic 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr 2:154,376,313...154,408,107
Ensembl chr 2:154,376,313...154,408,099
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 NCBI chr11:98,383,811...98,384,953
Ensembl chr11:98,383,811...98,384,953
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr12:86,056,743...86,079,041
Ensembl chr12:86,056,745...86,079,041
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 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26383259, PMID:26498160, PMID:26516846, PMID:28492532, PMID:29099038 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:31371117 NCBI chr18:20,664,209...20,674,326
Ensembl chr18:20,665,280...20,674,321
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,052,729...119,071,525
Ensembl chr 9:119,052,778...119,071,525
JBrowse link
G Xylb xylulokinase homolog (H. influenzae) ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 9:119,357,381...119,393,797
Ensembl chr 9:119,357,381...119,393,797
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 (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, 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 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
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 6:142,564,837...142,571,614
Ensembl chr 6:142,564,837...142,571,614
JBrowse link
G Scn10a sodium channel, voltage-gated, type X, alpha ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25691538, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 9:119,608,456...119,719,322
Ensembl chr 9:119,608,456...119,719,322
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO
IEA
ClinVar Annotator: match by term: Brugada syndrome 1
ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
OMIM:601144
ClinVar
OMIM
MouseDO
PMID:2107088, PMID:8661019, PMID:9521325, 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: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: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:17504259, PMID:17512504, 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: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: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: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:25650408, PMID:25741286, PMID:25741868, PMID:25748040, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, 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:26743238, PMID:26746457, PMID:26749013, PMID:26798387, PMID:26822237, PMID:27077130, 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:28183570, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28341588, PMID:28341781, PMID:28344931, 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:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29449639, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29764897, PMID:29884292, PMID:29997009, PMID:29998127, PMID:30050137, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30153324, PMID:30311386, PMID:30364184, PMID:30371189, PMID:30419068, PMID:30662450, PMID:31333075, PMID:31568572 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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:30311386, PMID:30662450 NCBI chr 9:114,899,339...114,933,987
Ensembl chr 9:114,899,341...114,933,987
JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit 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:25741868, PMID:25974115, PMID:26230511, PMID:26386135, PMID:27502440, PMID:27711072, PMID:28492532, PMID:29046645, PMID:30345660 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit 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:27711072, PMID:28341588, PMID:28492532, PMID:29016939, PMID:30311386 NCBI chr 2:14,603,861...14,988,811
Ensembl chr 2:14,603,088...14,987,908
JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 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:28341588, PMID:28492532, PMID:29016939, PMID:30311386 NCBI chr 2:14,990,444...15,055,144
Ensembl chr 2:14,995,131...15,055,069
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Brugada syndrome 5 OMIM
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15671291, PMID:15710580, PMID:15857929, PMID:16205844, PMID:16783378, PMID:17020904, PMID:17604911, PMID:17629415, PMID:17928445, PMID:18464934, PMID:18941776, PMID:19522081, PMID:19710327, PMID:19808477, PMID:20226894, PMID:20301718, 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:29758173, PMID:29915715, PMID:31465153, PMID:206282012 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
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, Isk-related subfamily, gene 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:30311386 NCBI chr 7:100,176,507...100,184,869
Ensembl chr 7:100,176,502...100,184,869
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 (putative) 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:30311386 NCBI chr 7:100,159,277...100,160,931
Ensembl chr 7:100,159,277...100,161,365
JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium channel, voltage-gated, type III, beta ISO
IEA
ClinVar Annotator: match by term: Brugada syndrome 7
OMIM:613120
OMIM
ClinVar
MouseDO
PMID:20031595, PMID:20042427, PMID:20226894, 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:28492532, PMID:29247119, PMID:30662450 NCBI chr 9:40,269,216...40,291,618
Ensembl chr 9:40,269,217...40,291,618
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 9:59,291,572...59,316,200
Ensembl chr 9:59,291,558...59,324,052
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 9:59,388,554...59,488,186
Ensembl chr 9:59,388,258...59,486,618
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 (human) ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 9:59,321,966...59,353,508
Ensembl chr 9:59,321,990...59,353,508
JBrowse link
G Hcn4 hyperpolarization-activated, cyclic nucleotide-gated K+ 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 OMIM
ClinVar
PMID:12750403, 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:28182231, PMID:28254188, PMID:28254189, PMID:28255936, PMID:28341588, PMID:28492532, PMID:28855170, PMID:29247119, PMID:30196304, PMID:30578647 NCBI chr 9:58,822,949...58,863,175
Ensembl chr 9:58,823,412...58,863,175
JBrowse link
G Hexa hexosaminidase A ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 9:59,539,540...59,565,109
Ensembl chr 9:59,539,540...59,565,109
JBrowse link
G Neo1 neogenin ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 9:58,874,679...59,036,614
Ensembl chr 9:58,874,687...59,036,441
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 9:59,518,671...59,539,674
Ensembl chr 9:59,518,685...59,539,847
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, Shal-related family, 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 3:105,451,890...105,674,002
Ensembl chr 3:105,452,330...105,674,002
JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:38,965,515...39,110,188
Ensembl chr10:38,965,515...39,110,188
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, brain 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 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24690944, PMID:25741868, PMID:27218670, PMID:28492532 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
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 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 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, PMID:30311386 NCBI chr16:92,292,389...92,298,133
Ensembl chr16:92,292,389...92,298,129
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:10807545, PMID:11468227, PMID:12775564, PMID:14661677, PMID:14760488, PMID:14975928, PMID:15522280, PMID:15599693, PMID:15746444, PMID:16487223, PMID:17161064, PMID:17210839, PMID:17275752, PMID:17597962, PMID:18426444, PMID:19019189, PMID:19305409, PMID:19490382, PMID:19673885, PMID:19841300, PMID:20167303, PMID:22581653, PMID:23303164, PMID:23861362, PMID:24033266, PMID:24596401, PMID:25741868, PMID:26467025, PMID:26746457, PMID:27153395, PMID:28472724, PMID:28492532, PMID:29752375, PMID:29759541 NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
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 chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
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 chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:25741868, PMID:26805781, PMID:29369572 NCBI chr16:18,300,825...18,348,098
Ensembl chr16:18,300,825...18,348,103
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 (PRKA) anchor protein 10 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr11:61,865,203...61,930,308
Ensembl chr11:61,871,307...61,930,252
JBrowse link
G Nkx2-5 NK2 homeobox 5 IMP RGD PMID:11457872 RGD:12914774 NCBI chr17:26,838,664...26,844,988
Ensembl chr17:26,838,664...26,845,009
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 channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive ClinVar PMID:11234013, PMID:19251209, PMID:22581653 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr 2:14,603,861...14,988,811
Ensembl chr 2:14,603,088...14,987,908
JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr 2:14,990,444...15,055,144
Ensembl chr 2:14,995,131...15,055,069
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by null ClinVar PMID:18464934 NCBI chr 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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 Gm18589 predicted gene, 18589 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chr 3:154,837,837...154,853,694 JBrowse link
G Lmna lamin A ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
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 3:154,786,291...155,055,407
Ensembl chr 3:154,786,291...155,055,407
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 chr13:12,269,426...12,340,732
Ensembl chr13:12,269,426...12,340,760
JBrowse link
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr 6:118,587,240...119,197,384
Ensembl chr 6:118,587,240...119,196,890
Ensembl chr 6:118,587,240...119,196,890
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 chr12:100,199,435...100,209,824
Ensembl chr12:100,199,435...100,209,814
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:12034872, PMID:12386154, PMID:14571276, PMID:16601229, 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 NCBI chr 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
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 chr18:20,558,074...20,604,526
Ensembl chr18:20,558,074...20,604,521
JBrowse link
G Fkbp1b FK506 binding protein 1b IEA MouseDO NCBI chr12:4,833,176...4,841,573
Ensembl chr12:4,833,174...4,841,591
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Mybpc3 myosin binding protein C, cardiac ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced 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:1572740, PMID:8589694, 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:17875969, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, 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: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: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: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: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: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:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28600387, PMID:28620067, PMID:28697927, PMID:28750076, PMID:28771489, PMID:28798025, PMID:28961276, PMID:29032884, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30197081, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31112425 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:83,278,122...83,355,195
Ensembl chr 5:83,278,145...83,355,195
JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:67,022,590...67,049,672
Ensembl chr 9:67,022,590...67,049,406
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:19763152, PMID:20307669, PMID:21520333, PMID:22406018, PMID:22422768, PMID:23035052, PMID:24033266, PMID:25650408, PMID:25741868, PMID:25922419, PMID:26200674, PMID:26768964, PMID:28492532, PMID:22422768 RGD:7327227 NCBI chr10:33,083,483...33,476,709
Ensembl chr10:33,080,554...33,476,709
JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:102,153,583...102,204,744
Ensembl chr 3:102,153,583...102,204,693
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, brain ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
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 chr12:100,199,435...100,209,824
Ensembl chr12:100,199,435...100,209,814
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Dmpk dystrophia myotonica-protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 7:19,083,646...19,093,821
Ensembl chr 7:19,083,849...19,093,821
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 chr18:20,558,074...20,604,526
Ensembl chr18:20,558,074...20,604,521
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr13:38,151,294...38,198,577
Ensembl chr13:38,151,294...38,198,577
JBrowse link
G Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 5:24,319,589...24,351,684
Ensembl chr 5:24,319,589...24,351,604
JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr10:38,965,515...39,110,188
Ensembl chr10:38,965,515...39,110,188
JBrowse link
G Lmna lamin A 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 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Mybpc3 myosin binding protein C, cardiac 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 2:91,118,114...91,136,516
Ensembl chr 2:91,118,144...91,136,516
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO
IEA
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
OMIM:604772
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
MouseDO
PMID:1572740, PMID:8589694, 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:17875969, PMID:17984046, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, 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:22221940, 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:26018045, 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:28237968, PMID:28256248, PMID:28404607, PMID:28492532, PMID:28567303, PMID:28620067, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:30086531, PMID:30311386, PMID:30403697 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:67,022,590...67,049,672
Ensembl chr 9:67,022,590...67,049,406
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:33,083,483...33,476,709
Ensembl chr10:33,080,554...33,476,709
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 7:45,303,155...45,334,071
Ensembl chr 7:45,302,632...45,333,780
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
IEA
ClinVar Annotator: match by OMIM:611938
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2
ClinVar
MouseDO
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 NCBI chr 3:102,086,415...102,146,514
Ensembl chr 3:102,086,415...102,146,514
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:25741868 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Vangl1 VANGL planar cell polarity 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr 3:102,153,583...102,204,744
Ensembl chr 3:102,153,583...102,204,693
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 chr 5:83,278,122...83,355,195
Ensembl chr 5:83,278,145...83,355,195
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 chr12:100,199,435...100,209,824
Ensembl chr12:100,199,435...100,209,814
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:28492532 NCBI chr10:33,083,483...33,476,709
Ensembl chr10:33,080,554...33,476,709
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
OMIM
PMID:25282101 NCBI chr17:53,674,786...53,691,331
Ensembl chr17:53,674,786...53,689,333
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, sub-family C (CFTR/MRP), 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 6:142,587,862...142,702,766
Ensembl chr 6:142,587,862...142,702,315
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 3:97,032,402...97,053,634
Ensembl chr 3:96,904,693...97,077,416
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, 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 6:126,532,551...126,535,555
Ensembl chr 6:126,532,551...126,535,412
JBrowse link
G Kcne2 potassium voltage-gated channel, Isk-related subfamily, gene 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 chr16:92,292,389...92,298,133
Ensembl chr16:92,292,389...92,298,129
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 chr11:111,066,164...111,076,825
Ensembl chr11:111,066,164...111,076,821
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:25741868, PMID:25985138, PMID:26159999, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648 NCBI chr 7:143,106,877...143,427,050
Ensembl chr 7:143,106,362...143,427,042
JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:143,213,111...143,296,547
Ensembl chr 7:143,203,458...143,296,549
JBrowse link
G Lama4 laminin, alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868, PMID:28492532 NCBI chr10:38,965,515...39,110,188
Ensembl chr10:38,965,515...39,110,188
JBrowse link
G Myl4 myosin, light polypeptide 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 NCBI chr11:104,546,017...104,587,215
Ensembl chr11:104,550,663...104,595,753
JBrowse link
G Nppa natriuretic peptide type 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 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
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 chr15:8,109,263...8,159,859
Ensembl chr15:8,109,273...8,161,247
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta 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 7:31,116,524...31,127,023
Ensembl chr 7:31,116,524...31,127,003
JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta 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 9:45,117,876...45,130,070
Ensembl chr 9:45,117,782...45,130,070
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha 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 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 transcription factor 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 1 ClinVar NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol