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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


show annotations for term's descendants           Sort by:
 
Cardiac Arrhythmias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO associated with Kidney Failure, Chronic;DNA:insertion/deletion
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15331425, PMID:16105049 RGD:8548864 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ADM adrenomedullin ISO associated with Myocardial Ischemia RGD PMID:16715121 RGD:1625318 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1654493, PMID:2535056 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human RGD PMID:16105049 RGD:8548864 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
RGD
ClinVar
PMID:11334825, PMID:12571597, 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 RGD:734572 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050
JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6983645 NCBI chr20:3,169,094...3,172,900 JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiac arrhythmia
CTD
ClinVar
PMID:15454078, PMID:24690944, PMID:25741868, PMID:27218670, PMID:28492532 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO RGD PMID:28469787 RGD:13513983 NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:28492532 NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G CD36 CD36 molecule severity ISO RGD PMID:22128087 RGD:6893560 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:26752647, PMID:30311386 NCBI chr2B:119,770,636...119,779,332
Ensembl chr2B:238,689,935...238,696,526
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G CRP C-reactive protein ISO protein:increased expression:blood: RGD PMID:11739301 RGD:9495908 NCBI chr 1:135,062,102...135,064,402 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 chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:21520333, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12011762, PMID:15838369 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22166976 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FKBP1B FKBP prolyl isomerase 1B ISO associated with Myocardial Infarction RGD PMID:18570278 RGD:2302073 NCBI chr2A:24,047,287...24,065,765
Ensembl chr2A:24,145,893...24,159,082
JBrowse link
G GJA1 gap junction protein alpha 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:18003637, PMID:18077386, PMID:23951191 RGD:8662422 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GNAI2 G protein subunit alpha i2 treatment ISO associated with Myocardial Reperfusion Injury RGD PMID:11941407 RGD:13508594 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
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 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
JBrowse link
G GYG1 glycogenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357282 NCBI chr 3:146,015,629...146,055,412
Ensembl chr 3:153,595,624...153,632,740
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G HTR4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9806222 NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357
JBrowse link
G ITGA2 integrin subunit alpha 2 no_association ISO RGD PMID:10822074 RGD:1582305 NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720
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 chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:30311386 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
associated with Myocardial Infarction
RGD
ClinVar
PMID:14561835, PMID:20381460 RGD:12910697, RGD:7242918 NCBI chr21:20,818,395...20,884,053 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
associated with Myocardial Infarction
ClinVar
RGD
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:20381460, 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 RGD:7242918 NCBI chr21:20,548,631...20,739,999
Ensembl chr21:34,107,443...34,107,814
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
CTD
ClinVar
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 7:142,528,979...142,562,074 JBrowse link
G KCNIP2 potassium voltage-gated channel interacting protein 2 ISO RGD PMID:11747815 RGD:737786 NCBI chr10:98,428,619...98,446,581
Ensembl chr10:101,899,898...101,918,691
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 chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO 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 chr11:2,469,750...2,874,467 JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2535056 NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149
JBrowse link
G LIG3 DNA ligase 3 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr17:21,776,483...21,805,706
Ensembl chr17:22,074,046...22,095,220
JBrowse link
G LMNA lamin A/C ISO RGD PMID:18182166 RGD:2306092 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G LOC100984344 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 chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:21454599 RGD:7495828 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:17460430, PMID:25741868 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:28492532 NCBI chr10:18,864,484...18,978,297
Ensembl chr10:19,199,642...19,304,089
JBrowse link
G OPRD1 opioid receptor delta 1 ISO RGD PMID:10900218 RGD:2316592 NCBI chr 1:28,068,053...28,143,053
Ensembl chr 1:29,112,152...29,163,464
JBrowse link
G OPRK1 opioid receptor kappa 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:15076225, PMID:16995444 RGD:9831425 NCBI chr 8:49,650,844...49,677,494
Ensembl chr 8:47,029,313...47,056,577
JBrowse link
G OPRL1 opioid related nociceptin receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16995444 Ensembl chr20:62,004,176...62,017,866 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 chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071777 NCBI chr12:34,158,956...34,167,350
Ensembl chr12:34,882,975...34,898,218
JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19376970 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868, PMID:28492532 NCBI chr17:43,369,556...43,371,025
Ensembl chr17:48,101,744...48,103,394
JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO RGD PMID:17525370 RGD:2311702 NCBI chr16:47,236,886...47,240,799 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:23861362, PMID:24033266, PMID:28492532 NCBI chr19:31,974,499...31,984,488 JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:27435932 NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Arrhythmia
ClinVar Annotator: match by term: Cardiac arrhythmias
ClinVar PMID:2107088, PMID:2380016, PMID:8661019, PMID:8972392, PMID:9521325, PMID: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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G SGO1 shugoshin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25282101 NCBI chr 3:20,079,671...20,096,390 JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Cardiac arrhythmia
ClinVar Annotator: match by term: Arrhythmia
ClinVar PMID:25741868, PMID:28492532 NCBI chr17:43,364,198...43,369,582
Ensembl chr17:48,096,764...48,102,215
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:28492532 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:15454275 RGD:1581234 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Cardiac arrhythmia ClinVar PMID:25741868, PMID:26805781, PMID:26805782, PMID:29369572, PMID:32576985 NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Cardiac arrhythmias ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6813757 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Arrhythmia ClinVar PMID:30311386 NCBI chr2B:65,783,512...66,064,618 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 OMIM NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
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 chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
JBrowse link
ankyrin-B-related cardiac arrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO OMIM NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:15331425, PMID:19648063, PMID:23170137 RGD:7829797, RGD:8142351 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G AGBL4 ATP/GTP binding protein like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:47,807,888...49,264,213
Ensembl chr 1:49,317,846...50,770,741
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AKAP6 A-kinase anchoring protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G ANK2 ankyrin 2 onset ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
ClinVar
PMID:17161064, PMID:21859974, PMID:23861362, PMID:24448499, PMID:25649125, PMID:25741868, PMID:26159999, PMID:28492532 RGD:6767284 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G AOPEP aminopeptidase O (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015, PMID:30061737 NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
JBrowse link
G APLN apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:118,775,509...118,785,224 JBrowse link
G ARHGAP10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:140,054,130...140,412,646
Ensembl chr 4:151,726,549...152,066,977
JBrowse link
G ARMH3 armadillo like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:98,448,251...98,670,235
Ensembl chr10:101,920,359...102,130,150
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:59,376,993...59,573,925 JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:17,272,632...17,300,902 JBrowse link
G ATXN1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:16,155,049...16,952,827
Ensembl chr 6:16,526,563...16,548,566
JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964
JBrowse link
G BEST3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:67,169,603...67,225,839 JBrowse link
G C1H1orf185 chromosome 1 C1orf185 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:50,349,126...50,394,971
Ensembl chr 1:51,844,666...51,890,499
JBrowse link
G CALU calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:120,691,092...120,723,303
Ensembl chr 7:133,223,269...133,247,167
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387
JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) no_association ISO DNA:SNP:intron:rs4642101 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:29459676, PMID:29892015, PMID:30061737 RGD:18899563 NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G CASZ1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:22544366, PMID:29892015 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CAV2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415
JBrowse link
G CD36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:atriim
CTD
RGD
PMID:16043935, PMID:29892015 RGD:8662360 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CEP68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr2A:65,119,388...65,147,624
Ensembl chr2A:66,244,826...66,274,963
JBrowse link
G CFL2 cofilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473
JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300
JBrowse link
G COG5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:99,180,197...99,543,437
Ensembl chr 7:111,934,557...112,266,513
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973
JBrowse link
G CRP C-reactive protein disease_progression ISO associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: RGD PMID:18811807, PMID:19645035 RGD:9491838, RGD:9491839 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr13:94,350,484...94,409,183
Ensembl chr13:113,428,271...113,472,701
JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
JBrowse link
G CYTH1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:72,749,310...72,857,992
Ensembl chr17:78,295,437...78,358,735
JBrowse link
G DES desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
JBrowse link
G DGKB diacylglycerol kinase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:14,803,023...15,638,280
Ensembl chr 7:14,165,933...14,969,825
JBrowse link
G DNAH10 dynein axonemal heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:121,347,148...121,521,686
Ensembl chr12:125,572,597...125,744,919
JBrowse link
G DPF3 double PHD fingers 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:53,189,348...53,475,634 JBrowse link
G EDN1 endothelin 1 severity ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16762801, PMID:22669310 RGD:8661797 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EPHA3 EPH receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:89,261,166...89,629,010
Ensembl chr 3:91,369,239...91,739,056
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G FBRSL1 fibrosin like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:129,837,013...129,936,801 JBrowse link
G FBXO32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:120,192,822...120,236,116
Ensembl chr 8:122,954,343...122,992,157
JBrowse link
G FGF5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:43,236,955...43,932,346
Ensembl chr 4:49,085,866...49,710,273
Ensembl chr 4:49,085,866...49,710,273
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FRMD4B FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:69,105,231...69,478,192
Ensembl chr 3:70,471,897...70,686,895
JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GJA1 gap junction protein alpha 1 susceptibility ISO protein:decreased expression:myocardium of atrium
DNA:mutation:cds:p.G60S(mouse)
associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium
protein:increased localization:lateral plasma membrane, cardiac muscle cell
RGD PMID:11527649, PMID:12062341, PMID:16953110, PMID:21239638 RGD:12910123, RGD:7207850, RGD:8662373, RGD:8662382 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, somatic
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:11527649, PMID:16790700, PMID:29892015, PMID:30061737 RGD:1580393, RGD:7207850 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
G GNB4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:176,428,475...176,483,905
Ensembl chr 3:184,601,229...184,630,913
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:10,561,574...10,580,489
Ensembl chr17:10,715,452...10,759,004
JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 Ensembl chr 7:81,831,442...81,901,926 JBrowse link
G GYPC glycophorin C (Gerbich blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr2B:33,578,851...33,619,869 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 4:165,755,000...165,758,735 JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:22544366, PMID:23861362, PMID:25145518, PMID:25145519, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27659478, PMID:28104484, PMID:28182231, PMID:28254189, PMID:28492532, PMID:30061737 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
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 chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244
JBrowse link
G HGF hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:right atrium appendage, cytoplasm (human) RGD PMID:19211267 RGD:8695924 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HIP1R huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:120,438,841...120,467,489
Ensembl chr12:124,685,091...124,700,726
JBrowse link
G HSF2 heat shock transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:120,187,898...120,221,391
Ensembl chr 6:124,312,353...124,348,628
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
JBrowse link
G HTR4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IRF2BPL interferon regulatory factor 2 binding protein like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:57,577,085...57,581,220 JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr21:20,818,395...20,884,053 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15368194, PMID:16487223, PMID:18006559, PMID:22581653, PMID:24681347, PMID:25741868, PMID:28492532 RGD:1580501 NCBI chr21:20,548,631...20,739,999
Ensembl chr21:34,107,443...34,107,814
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD
ClinVar
PMID:10807545, PMID:11997281, PMID:12402336, PMID:12829173, PMID:14661677, PMID:14760488, PMID:15599693, PMID:16116052, PMID:16132053, PMID:16487223, PMID:17161064, PMID:17210839, PMID:18060054, PMID:18222980, PMID:18808722, PMID:19841300, PMID:22581653, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29892015, PMID:30061737 NCBI chr 7:142,528,979...142,562,074 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
RGD
ClinVar
PMID:15922306, PMID:19041665, PMID:19111761, PMID:22581653, PMID:23543060, PMID:23631430, PMID:25410959, PMID:28492532 RGD:7247428 NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11693772, PMID:29892015, PMID:30061737 RGD:1581701 NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:109,722,916...109,862,747 JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20173747, PMID:30061737 NCBI chr 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
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 RGD:1580507 NCBI chr11:2,469,750...2,874,467 JBrowse link
G KDM1B lysine demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:18,002,763...18,071,598 JBrowse link
G KIF3C kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr2A:25,927,039...25,982,715
Ensembl chr2A:26,020,025...26,074,961
JBrowse link
G LHX3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
JBrowse link
G LOC100978213 TNF superfamily member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr17:7,581,163...7,589,809
Ensembl chr17:7,567,766...7,575,575
JBrowse link
G LOC100978529 myosin-7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:25741868, PMID:29892015, PMID:30061737 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
G LRIG1 leucine rich repeats and immunoglobulin like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:66,271,849...66,394,056
Ensembl chr 3:67,644,289...67,765,194
JBrowse link
G LRMDA leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:71,957,984...73,085,285
Ensembl chr10:74,630,828...75,747,045
JBrowse link
G LRRC10 leucine rich repeat containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr12:67,135,114...67,137,929
Ensembl chr12:69,907,049...69,907,882
JBrowse link
G MAPT microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
JBrowse link
G MEX3C mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:44,546,129...44,569,580 JBrowse link
G MIR1-1HG MIR1-1 host gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:58,936,162...58,957,480 JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:19734590, PMID:20935575 RGD:8549736, RGD:8693675 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MYH6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G MYO18B myosin XVIIIB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr22:6,802,390...7,118,996
Ensembl chr22:24,529,348...24,816,779
JBrowse link
G MYO1C myosin IC ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr17:1,446,506...1,475,634
Ensembl chr17:1,345,143...1,375,540
JBrowse link
G MYOCD myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659
JBrowse link
G MYOT myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960
JBrowse link
G MYOZ1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:70,179,020...70,194,885
Ensembl chr10:72,635,720...72,645,602
JBrowse link
G MYPN myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967
JBrowse link
G NACA nascent polypeptide associated complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510
JBrowse link
G NAV2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:19,370,095...20,143,255
Ensembl chr11:19,288,598...20,055,758
JBrowse link
G NEBL nebulette ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236
JBrowse link
G NEURL1 neuralized E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:100,093,614...100,192,485 JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:181,322,760...181,359,321
Ensembl chr 1:185,606,796...185,642,984
JBrowse link
G OPN1SW opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507
JBrowse link
G PHLDA1 pleckstrin homology like domain family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr12:73,530,456...73,543,951
Ensembl chr12:76,387,313...76,388,502
JBrowse link
G PHLDB2 pleckstrin homology like domain family B member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:108,878,798...109,120,501
Ensembl chr 3:115,745,634...116,044,586
JBrowse link
G PITX2 paired like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PKP2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G PLN phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G PPFIA4 PTPRF interacting protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr 1:178,628,003...178,680,528
Ensembl chr 1:182,922,758...182,975,300
JBrowse link
G PPP2R3A protein phosphatase 2 regulatory subunit B''alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:133,017,166...133,202,163
Ensembl chr 3:140,485,925...140,666,592
JBrowse link
G PRRX1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810
JBrowse link
G PSMB7 proteasome 20S subunit beta 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 9:95,475,378...95,540,314
Ensembl chr 9:123,995,678...124,057,483
JBrowse link
G PTH parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
JBrowse link
G RBM20 RNA binding motif protein 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909
JBrowse link
G REEP1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr2A:86,268,147...86,391,520 JBrowse link
G REEP3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:60,028,052...60,133,363
Ensembl chr10:62,351,045...62,454,931
JBrowse link
G REN renin ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
G RPL3L ribosomal protein L3 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719
JBrowse link
G RPS2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr16:739,562...742,323 JBrowse link
G SCMH1 Scm polycomb group protein homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:40,323,101...40,540,236
Ensembl chr 1:41,639,127...41,776,261
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD
ClinVar
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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
JBrowse link
G SGCA sarcoglycan alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188
JBrowse link
G SH3PXD2A SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr10:100,193,961...100,455,200
Ensembl chr10:103,663,163...103,861,437
JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069
JBrowse link
G SLC27A6 solute carrier family 27 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:124,378,721...124,447,729
Ensembl chr 5:130,140,967...130,212,940
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773
JBrowse link
G SLIT3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:164,029,432...164,664,156
Ensembl chr 5:170,793,731...171,425,242
JBrowse link
G SMAD7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:42,306,324...42,337,214 JBrowse link
G SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr2A:69,936,640...69,947,971 JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664, PMID:25741868 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
JBrowse link
G SOD1 superoxide dismutase 1 ISO associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) RGD PMID:21954878 RGD:8655869 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SORL1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432
JBrowse link
G SOX15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr17:7,619,804...7,621,791
Ensembl chr17:7,606,086...7,608,632
JBrowse link
G SOX5 SRY-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr12:62,361,631...62,780,805
Ensembl chr12:64,971,818...65,388,694
JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr2B:87,558,298...87,735,646
Ensembl chr2B:205,800,294...205,889,626
JBrowse link
G SSPN sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:60,085,213...60,184,820
Ensembl chr12:62,678,540...62,735,720
JBrowse link
G SUN1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:971,632...1,031,152
Ensembl chr 7:1,190,462...1,247,390
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015 NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136
JBrowse link
G SYNPO2L synaptopodin 2 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:70,192,289...70,204,008
Ensembl chr10:72,648,952...72,660,184
JBrowse link
G TBX5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739
JBrowse link
G TFPI tissue factor pathway inhibitor ISO mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384
JBrowse link
G THRB thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:24,024,025...24,401,024 JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TNF tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr2B:65,783,512...66,064,618 JBrowse link
G TUBA8 tubulin alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
JBrowse link
G UBE4B ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:8,801,707...8,949,465
Ensembl chr 1:10,033,084...10,178,759
JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr15:42,450,782...42,541,162
Ensembl chr15:60,746,406...60,830,535
JBrowse link
G USP34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr2A:61,272,350...61,555,244
Ensembl chr2A:62,411,173...62,644,812
JBrowse link
G UST uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:146,562,541...146,895,450
Ensembl chr 6:151,270,505...151,597,779
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VWF von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:17890461, PMID:21497043 RGD:7205648 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153
JBrowse link
G WDR1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:4,487,054...4,516,732
Ensembl chr 4:9,805,164...9,848,032
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695
JBrowse link
G WNT8A Wnt family member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr 5:133,419,324...133,471,094
Ensembl chr 5:139,598,229...139,605,926
JBrowse link
G XPO1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
JBrowse link
G XPO7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:21,163,846...21,251,377
Ensembl chr 8:18,151,659...18,191,617
JBrowse link
G XXYLT1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:192,374,972...192,574,398
Ensembl chr 3:202,675,557...202,873,399
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 chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360
JBrowse link
G ZNF462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 9:78,015,173...78,168,766
Ensembl chr 9:106,267,333...106,357,848
JBrowse link
G ZPBP2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:17,410,278...17,420,458
Ensembl chr17:17,630,126...17,639,771
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 OMIM NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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 chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
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 OMIM NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067, PMID:12522116, PMID:15466643, PMID:15998690, PMID:16188595, PMID:16684018, PMID:19251209, PMID:19716085, PMID:20129283, PMID:20384651, PMID:20539757, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:23791817, PMID:24136861, PMID:24573164, PMID:24762805, PMID:25741868, PMID:25904541, PMID:26111534, PMID:28492532 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAI2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:30311386 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:142,528,979...142,562,074 JBrowse link
G LMNA lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10580070, PMID:25469153 RGD:12791032 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
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 chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrioventricular conduction block ClinVar PMID:11804990, PMID:15671429, PMID:18048769, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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 OMIM NCBI chr 6:102,915,148...102,951,141
Ensembl chr 6:106,787,615...106,822,050
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 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:9519251 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Bradycardia ClinVar PMID:16043807, PMID:26467025, PMID:30311386 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11181912 NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:6093200 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1724532, PMID:10626749 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933, PMID:8440307 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G EDN2 endothelin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr 1:40,777,582...40,783,410
Ensembl chr 1:42,092,811...42,098,721
JBrowse link
G EDN3 endothelin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:1309933 NCBI chr20:55,652,770...55,678,486
Ensembl chr20:57,012,926...57,038,570
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:3277781, PMID:3736332, PMID:6542785, PMID:7787496, PMID:9674488 NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155
JBrowse link
G GNAI2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:2207497 NCBI chr 5:50,045,266...50,049,636
Ensembl chr 5:51,692,416...51,693,684
JBrowse link
G KNG1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281941 NCBI chr 3:183,751,598...183,778,655
Ensembl chr 3:192,219,462...192,245,149
JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: therapeutic CTD PMID:6350720 NCBI chr19:46,017,880...46,021,395 JBrowse link
G MC4R melanocortin 4 receptor ISO RGD PMID:24400148 RGD:13825242 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G NISCH nischarin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11486246 NCBI chr 3:52,397,576...52,435,127
Ensembl chr 3:53,626,317...53,662,567
JBrowse link
G NTS neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:2326505 NCBI chr12:83,402,313...83,410,356
Ensembl chr12:86,640,720...86,648,745
JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337, PMID:6131355, PMID:6716269 NCBI chr20:2,092,171...2,108,141
Ensembl chr20:1,856,850...1,872,452
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1676337, PMID:2636709, PMID:19039989 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6350720 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
JBrowse link
G SLC30A5 solute carrier family 30 member 5 ISO RGD PMID:12095919 RGD:1580628 NCBI chr 5:44,873,631...44,909,875
Ensembl chr 5:46,440,860...46,477,050
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2445440, PMID:2471579, PMID:8960879 RGD:2305984 NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389
JBrowse link
G TACR1 tachykinin receptor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:9696263 NCBI chr2A:75,111,339...75,267,320
Ensembl chr2A:76,614,478...76,771,018
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6350720, PMID:6813757 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736
JBrowse link
G UTS2 urotensin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16160878 NCBI chr 1:6,609,104...6,616,966
Ensembl chr 1:7,854,687...7,864,688
JBrowse link
Brugada syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
G ACAA1 acetyl-CoA acyltransferase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,020,439...38,035,341 JBrowse link
G ACVR2B activin A receptor type 2B ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:23631430, PMID:23861362, PMID:25741868, PMID:26230511, PMID:28492532 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:17224476, PMID:20817017, PMID:22385640, PMID:22581653, PMID:22840528, PMID:23414114, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24183960, PMID:25333069, PMID:25633834, PMID:25637381, PMID:25741868, PMID:25974115, PMID:27231019, PMID:27662471, PMID:27711072, PMID:28341588, PMID:28492532, PMID:28750076, PMID:30172029, PMID:30279520, PMID:30311386, PMID:30662450 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar PMID:20817017, PMID:21383000, PMID:22840528, PMID:23414114, PMID:25527503, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532 NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
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 chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G CTDSPL CTD small phosphatase like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:37,761,101...37,883,330
Ensembl chr 3:38,127,971...38,166,485
JBrowse link
G DLEC1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:37,937,566...38,020,662
Ensembl chr 3:38,221,275...38,303,194
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 chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G EXOG exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,392,968...38,422,990
Ensembl chr 3:38,674,970...38,703,750
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
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 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:25637381, PMID:25741868, PMID:28341588, PMID:28492532 NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056
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 chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463
JBrowse link
G ITGA9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:37,349,120...37,722,572
Ensembl chr 3:37,651,395...38,006,363
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr21:20,818,395...20,884,053 JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:19122847, PMID:19306396, PMID:23861362, PMID:28492532 NCBI chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359
JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:28492532 NCBI chr  X:98,731,109...98,732,575
Ensembl chr  X:109,202,320...109,202,748
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:11997281, PMID:14661677, PMID:14760488, PMID:15840476, PMID:16043162, PMID:16487223, PMID:19841300, PMID:22581653, PMID:22949429, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:142,528,979...142,562,074 JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:19120683, PMID:20558321, PMID:22056721, PMID:22365152, PMID:22562657, PMID:22840528, PMID:23632791, PMID:24700710, PMID:25741868, PMID:28492532 NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr11:2,469,750...2,874,467 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:18533079, PMID:20215591, PMID:21499742, PMID:21832025, PMID:21832052, PMID:21835320, PMID:22361390, PMID:23861362, PMID:24033266, PMID:24111713, PMID:25351510, PMID:25741868, PMID:26914223, PMID:28492532 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G MYH6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:27789736, PMID:28492532, PMID:29332214 NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28492532 NCBI chr10:18,864,484...18,978,297
Ensembl chr10:19,199,642...19,304,089
JBrowse link
G OXSR1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,063,299...38,153,609
Ensembl chr 3:38,345,504...38,436,275
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 chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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 3:37,906,359...37,928,564
Ensembl chr 3:38,189,496...38,206,886
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD
ClinVar
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 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
JBrowse link
G SCN11A sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,741,485...38,948,400
Ensembl chr 3:39,024,921...39,128,015
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome
CTD
ClinVar
PMID:22155597, PMID:25741868 NCBI chr19:31,974,499...31,984,488 JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20031595, PMID:21051419, PMID:22284586, PMID:23257389, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:25650408, PMID:25741868, PMID:25757662, PMID:28492532, PMID:29247119 NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval)
CTD
ClinVar
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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G SLC22A13 solute carrier family 22 member 13 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,163,737...38,176,845 JBrowse link
G SLC22A14 solute carrier family 22 member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,179,107...38,216,934
Ensembl chr 3:38,486,595...38,498,833
JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:57,688,669...57,864,355
Ensembl chr 3:59,108,247...59,280,713
JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476
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 chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:23382873, PMID:25741868, PMID:28492532, PMID:30021168 NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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 chr2B:65,783,512...66,064,618 JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:31371117 NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
JBrowse link
G VILL villin like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:37,883,869...37,906,054
Ensembl chr 3:38,172,789...38,189,188
JBrowse link
G XYLB xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 3:38,244,960...38,349,616
Ensembl chr 3:38,526,988...38,592,086
JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:15735608, PMID:16411137, PMID:21306642, PMID:23264583, PMID:23861362, PMID:24068186, PMID:28492532 NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 7:142,528,979...142,562,074 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 chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25691538, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO OMIM NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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 OMIM NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172
JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO OMIM NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO OMIM NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome 4 ClinVar PMID:17224476, PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28341588, PMID:28492532, PMID:29016939, PMID:30311386 NCBI chr10:18,864,484...18,978,297
Ensembl chr10:19,199,642...19,304,089
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1B sodium voltage-gated channel beta subunit 1 ISO OMIM NCBI chr19:31,974,499...31,984,488 JBrowse link
Brugada syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO OMIM NCBI chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359
JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16449802, PMID:17395131, PMID:19306396, PMID:22987075, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:69,564,555...69,566,759
Ensembl chr11:72,869,834...72,872,050
JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3B sodium voltage-gated channel beta subunit 3 ISO OMIM NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
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 chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444
JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,423,132...51,534,278 JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO OMIM NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285
JBrowse link
G LOC100968827 golgin subfamily A member 6A ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,553,289...51,584,844 JBrowse link
G LOC100986229 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,235,123...51,326,832 JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178
JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598
JBrowse link
Brugada syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCND3 potassium voltage-gated channel subfamily D member 3 ISO OMIM NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814
JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
JBrowse link
Cardiac Complexes, Premature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:11334825, PMID:15075330, PMID:15178757, PMID:15970537, PMID:16253912, PMID:16650839, PMID:17161064, PMID:17242276, PMID:17261669, PMID:17928548, PMID:17940615, PMID:18782775, PMID:19394342, PMID:19862833, PMID:22411828, PMID:22581653, PMID:22995991, PMID:23174487, PMID:23396983, PMID:23631430, PMID:23861362, PMID:24025405, PMID:25333069, PMID:25351510, PMID:25741868, PMID:26159999, PMID:26168218, PMID:27435932, PMID:28074886, PMID:28492532, PMID:30615648 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24690944, PMID:25741868, PMID:27218670, PMID:28492532 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:10219239, PMID:10973849, PMID:10984545, PMID:11034315, PMID:11101505, PMID:14760488, PMID:16922724, PMID:19219384, PMID:19716085, PMID:19841298, PMID:19863579, PMID:20042375, PMID:22378279, PMID:22581653, PMID:23098067, PMID:23382499, PMID:23861362, PMID:24055113, PMID:24144883, PMID:24606995, PMID:24631775, PMID:25333069, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26284702, PMID:27884173, PMID:28341588, PMID:28492532, PMID:28794082, PMID:30311386 NCBI chr21:20,548,631...20,739,999
Ensembl chr21:34,107,443...34,107,814
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:10807545, PMID:14760488, PMID:15599693, PMID:15746444, PMID:17597962, PMID:18426444, PMID:19305409, PMID:19490382, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:142,528,979...142,562,074 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 chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
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 chr11:2,469,750...2,874,467 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 chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:12193783, PMID:12471205, PMID:14500339, PMID:15161528, PMID:15851227, PMID:15992732, PMID:16061744, PMID:16453014, PMID:16453024, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18362431, PMID:18378609, PMID:18452875, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19841300, PMID:19843921, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22885917, PMID:22984773, PMID:23091201, PMID:23425522, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24951663, PMID:25065297, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26467025, PMID:27668095, PMID:28492532, PMID:29431662, PMID:29759522, PMID:30059973, PMID:30364184, PMID:30662450 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: EXTRASYSTOLES ClinVar PMID:25741868, PMID:26805781, PMID:29369572 NCBI chr22:2,779,217...2,826,445
Ensembl chr22:18,449,387...18,497,886
JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP10 A-kinase anchoring protein 10 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr17:31,150,628...31,226,569
Ensembl chr17:36,297,164...36,372,087
JBrowse link
G NKX2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514
JBrowse link
Cardiac Conduction Defect, Nonprogressive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive ClinVar PMID:11234013, PMID:19251209, PMID:22581653 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr10:18,864,484...18,978,297
Ensembl chr10:19,199,642...19,304,089
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:18464934 NCBI chr19:31,974,499...31,984,488 JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:11234013, PMID:11748104, PMID:12569159, PMID:12574143, PMID:14523039, PMID:16922724, PMID:18065446, PMID:19251209, PMID:19606473, PMID:19716085, PMID:20025708, PMID:20031634, PMID:20129283, PMID:20384651, PMID:20539757, PMID:20564468, PMID:21552533, PMID:22581653, PMID:22885917, PMID:24136861, PMID:24573164, PMID:24815523, PMID:24948852, PMID:25624448, PMID:25637381, PMID:25741868, PMID:26022185, PMID:26031372, PMID:26916278, PMID:27082542, PMID:27554632, PMID:28492532, PMID:28781330, PMID:29167113, PMID:31191357 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G LRRC53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chr 1:73,698,516...73,741,908 JBrowse link
G TNNI3K TNNI3 interacting kinase ISO OMIM NCBI chr 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240
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 chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826
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 chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
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
ClinVar
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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
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 chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
JBrowse link
G MT1HL1 metallothionein 1H like 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G RYR2 ryanodine receptor 2 ISO CTD Direct Evidence: marker/mechanism
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
ClinVar
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 chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:59,639,203...59,771,739
Ensembl chr 4:66,013,408...66,144,853
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
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
RGD
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 RGD:7327227 NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
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 chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
JBrowse link
G CASQ2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD
ClinVar
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr19:42,779,173...42,791,981
Ensembl chr19:51,316,099...51,329,355
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 chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786
JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 7:142,528,979...142,562,074 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849
JBrowse link
G RYR2 ryanodine receptor 2 ISO OMIM NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
JBrowse link
G TRDN triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464
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 OMIM NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:25741868 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552
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 OMIM NCBI chr 4:59,639,203...59,771,739
Ensembl chr 4:66,013,408...66,144,853
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 OMIM NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
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 OMIM NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
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 OMIM NCBI chr 3:20,079,671...20,096,390 JBrowse link
familial atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:12522116, PMID:28492532 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar NCBI chr12:5,165,057...5,168,307 JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar NCBI chr21:20,548,631...20,739,999
Ensembl chr21:34,107,443...34,107,814
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:28492532 NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar 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 chr11:2,469,750...2,874,467 JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273
JBrowse link
G MYL4 myosin light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 NCBI chr17:10,224,756...10,259,227
Ensembl chr17:10,439,346...10,454,272
JBrowse link
Familial Atrial Fibrillation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 1 ClinVar NCBI chr 4:103,112,624...103,137,356 JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO OMIM NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
JBrowse link
Familial Atrial Fibrillation 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA5 gap junction protein alpha 5 ISO OMIM NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
Familial Atrial Fibrillation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO OMIM NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
Familial Atrial Fibrillation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1B sodium voltage-gated channel beta subunit 1 ISO OMIM NCBI chr19:31,974,499...31,984,488 JBrowse link
Familial Atrial Fibrillation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN2B sodium voltage-gated channel beta subunit 2 ISO OMIM NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
JBrowse link
Familial Atrial Fibrillation 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP155 nucleoporin 155 ISO OMIM NCBI chr 5:73,000,597...73,080,417
Ensembl chr 5:78,285,001...78,360,601
JBrowse link
Familial Atrial Fibrillation 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 ClinVar PMID:20031595, PMID:20558140, 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 chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
JBrowse link
Familial Atrial Fibrillation 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL4 myosin light chain 4 ISO OMIM NCBI chr17:10,224,756...10,259,227
Ensembl chr17:10,439,346...10,454,272
JBrowse link
Familial Atrial Fibrillation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO OMIM NCBI chr11:2,469,750...2,874,467 JBrowse link
Familial Atrial Fibrillation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO OMIM NCBI chr21:20,548,631...20,739,999
Ensembl chr21:34,107,443...34,107,814
JBrowse link
Familial Atrial Fibrillation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326
JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048
JBrowse link
G C1H1orf167 chromosome 1 C1orf167 homolog ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155
JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505
JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410
JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012
JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241
JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171
JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
JBrowse link
G KIAA2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,669,585...10,676,372 JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526
JBrowse link
G MASP2 mannan binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NPPA natriuretic peptide A ISO OMIM NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308
JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,817,765...9,823,244 JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732
JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381
JBrowse link
Familial Atrial Fibrillation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO OMIM NCBI chr12:5,165,057...5,168,307 JBrowse link
Familial Atrial Fibrillation 9 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 OMIM NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
JBrowse link
Familial Ventricular Tachycardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Polymorphic ventricular tachycardia
ClinVar PMID:12034872, PMID:12386154, PMID:17881003, PMID:18543230, PMID:18684293, PMID:19709828, PMID:20530761, PMID:21063088, PMID:21265816, PMID:21454795, PMID:22421959, PMID:22553997, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26671417, PMID:28404607, PMID:28492532 NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311
JBrowse link
G GNAI2 G protein subunit alpha i2 ISO OMIM NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Ventricular tachycardia, polymorphic
ClinVar PMID:1572740, PMID:8589694, PMID:11159936, PMID:11208676, PMID:12093772, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15721128, PMID:15887426, PMID:15890976, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16436635, PMID:16517285, PMID:16769042, PMID:17558603, PMID:17875969, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19541610, PMID:19597050, PMID:19709828, PMID:19913485, PMID:19926015, PMID:20157052, PMID:20961976, PMID:21315846, PMID:21478052, PMID:21616285, PMID:21659649, 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:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:23871484, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24981977, PMID:25041964, PMID:25163546, PMID:25351510, PMID:25440180, PMID:25467552, PMID:25554238, PMID:25637381, PMID:25650408, PMID:25741868, PMID:25814417, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26114861, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26498160, PMID:26633542, PMID:26743238, PMID:26899768, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27435932, PMID:27452199, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28125075, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28620067, PMID:28697927, PMID:28771489, PMID:28961276, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30197081, PMID:30311386, PMID:30403697, PMID:31112425 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G TRDN triadin ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:23035052, PMID:24033266, PMID:25650408, PMID:25741868, PMID:28492532 NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552
JBrowse link
first-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: First degree atrioventricular block ClinVar PMID:21127202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
JBrowse link
Heart Block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Conduction disorder of the heart ClinVar PMID:7485162, PMID:12571597, PMID:15178757, PMID:17242276, PMID:18832177, PMID:22581653, PMID:23396983, PMID:23861362, PMID:24033266, PMID:25351510, PMID:25741868, PMID:26159999, PMID:26350513, PMID:28074886, PMID:28492532, PMID:29198934, PMID:29247119, PMID:29431110, PMID:29790872 NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
JBrowse link
G EGR1