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Pathways

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:heart conduction disease
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Accession:DOID:10273 term browser browse the term
Definition:A cardiovascular system disease that involves the heart's electrical conduction system. (DO)
Synonyms:exact_synonym: conduction system disorder;   heart rhythm disease
 xref: EFO:0005137;   ICD9CM:426.6
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
heart conduction disease 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: Conduction system disorder ClinVar NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Conduction system disorder ClinVar PMID:25741868 PMID:28491533 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Conduction system disorder ClinVar PMID:18464934 PMID:25741868 NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Conduction system disorder ClinVar PMID:1452303 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slc6a2 solute carrier family 6 member 2 ISS MouseDO NCBI chr19:30,183,289...30,228,292
Ensembl chr19:30,183,383...30,223,348
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Conduction system disorder ClinVar PMID:28492532 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15331425 PMID:23170137 PMID:19648063 RGD:7829797, RGD:8142351 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
JBrowse link
G Agbl4 AGBL carboxypeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:130,483,551...131,762,906 JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660
JBrowse link
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO DNA:missense mutation:cds:V498L (rs16899974) (human) RGD PMID:26984639 RGD:329961314 NCBI chr 2:61,063,416...61,104,828
Ensembl chr 2:61,063,419...61,105,090
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:75,919,350...76,359,667
Ensembl chr 6:75,919,513...76,355,036
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:21270786 PMID:23861362 PMID:25741868 PMID:27981572 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 onset ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
ClinVar
PMID:17161064 PMID:21859974 PMID:23861362 PMID:24448499 PMID:25649125 More... RGD:6767284, RGD:6767284 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,817,001...2,133,104
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:132,081,759...132,091,246
JBrowse link
G Arhgap10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr19:30,448,572...30,710,315
Ensembl chr19:47,352,276...47,614,531
JBrowse link
G Armh3 armadillo-like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:254,615,274...254,797,673
Ensembl chr 1:254,615,274...254,781,315
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 1:147,645,354...147,801,986
Ensembl chr 1:147,599,058...147,801,997
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:57,669,927...57,701,349
Ensembl chr16:57,669,750...57,718,305
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr17:18,943,397...19,354,751
Ensembl chr17:19,208,200...19,356,790
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:192,475,828...192,557,280
JBrowse link
G Best3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:54,499,696...54,542,733
JBrowse link
G C5h1orf185 similar to human chromosome 1 open reading frame 185 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:124,276,074...124,295,881
Ensembl chr 5:129,503,817...129,524,656
JBrowse link
G Calu calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:58,914,421...58,941,956
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:217,698,551...217,960,276
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs4642101 (human)
CTD
RGD
PMID:29892015 PMID:30061737 PMID:29459676 RGD:18899563 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:150,507,657...150,541,293
JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Casz1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:164,527,083...164,677,037
Ensembl chr 5:164,527,112...164,677,014
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:22544366 PMID:29892015 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:46,582,096...46,591,425
JBrowse link
G Cd36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 4:18,209,088...18,302,142 JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:31,601,192...31,781,701
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29892015 PMID:16043935 RGD:8662360 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969
JBrowse link
G Cep68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr14:94,447,973...94,470,533
Ensembl chr14:98,649,993...98,671,868
JBrowse link
G Cfl2 cofilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:78,090,843...78,094,888
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:53,969,979...54,278,973
JBrowse link
G Corin corin, serine peptidase ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:25741868 PMID:37913506 NCBI chr14:35,680,601...35,910,703
Ensembl chr14:36,034,993...36,264,649
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:83,723,587...84,124,786
Ensembl chr 4:83,723,194...84,120,793
JBrowse link
G Crp C-reactive protein disease_progression ISO associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: RGD PMID:18811807 PMID:19645035 RGD:9491838, RGD:9491839 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
JBrowse link
G Cs citrate synthase ISO protein:decreased expression:left cardiac atrium RGD PMID:35013064 RGD:243048475 NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:83,086,688...83,124,503
Ensembl chr16:83,086,921...83,124,457
JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798
JBrowse link
G Cyth1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:103,402,727...103,485,826
Ensembl chr10:103,864,804...103,984,383
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347
JBrowse link
G Dgkb diacylglycerol kinase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:60,368,101...61,124,420
Ensembl chr 6:60,368,519...61,124,420
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:37,484,444...37,607,810
Ensembl chr12:37,472,813...37,640,860
JBrowse link
G Dpf3 double PHD fingers 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:108,577,792...108,856,724
Ensembl chr 6:108,577,183...108,856,798
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16762801 PMID:22669310 RGD:8661797 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687
JBrowse link
G Epha3 Eph receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:14,585,041...14,920,721
Ensembl chr11:14,586,727...14,920,425
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:51,891,211...51,979,715
Ensembl chr12:51,960,790...51,979,361
JBrowse link
G Fbxo32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:91,620,925...91,654,491
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,627,906...11,650,243
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750
JBrowse link
G Frmd4b FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:129,895,401...130,222,070
Ensembl chr 4:131,452,365...131,640,287
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609
JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutation:cds:c.598T>G (p.W200G)(human) RGD PMID:23175127 RGD:155260351 NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327
JBrowse link
G Gja1 gap junction protein, alpha 1 susceptibility IEP
ISO
protein:increased localization:lateral plasma membrane, cardiac muscle cell
DNA:mutation:cds:p.G60S(mouse)
protein:decreased expression:myocardium of atrium
associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium
RGD PMID:11527649 PMID:21239638 PMID:12062341 PMID:16953110 RGD:7207850, RGD:12910123, RGD:8662382, RGD:8662373 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial fibrillation | ClinVar Annotator: match by term: Atrial fibrillation, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9588401 PMID:16790700 PMID:24060583 PMID:24144883 PMID:25741868 More... RGD:1580393, RGD:7207850 NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
JBrowse link
G Gnb4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:117,293,284...117,328,945
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:31,727,617...31,776,904
Ensembl chr20:32,270,314...32,319,611
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:89,085,323...89,105,665
Ensembl chr10:89,086,331...89,105,637
JBrowse link
G Gp6 glycoprotein VI ISO associated with Acute Coronary Syndrome;protein:decreased expression, increased expression:platelet, plasma (human) RGD PMID:19190951 RGD:401794135 NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:78,508,468...78,535,374
JBrowse link
G Gsn gelsolin disease_progression ISO RGD PMID:19669398 RGD:329333016 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:28,037,853...28,112,677
JBrowse link
G Gypc glycophorin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:24,434,921...24,467,592
Ensembl chr18:24,434,922...24,440,053
JBrowse link
G H19 H19 imprinted maternally expressed transcript disease_progression ISO RNA:increased expression:blood serum (human) RGD PMID:34887365 RGD:242905206 NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr16:37,928,145...37,931,488
Ensembl chr16:37,928,145...37,931,488
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:24607718 PMID:25145518 PMID:25145519 More... NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:right atrium appendage, cytoplasm (human) RGD PMID:19211267 RGD:8695924 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:32,590,164...32,618,841
Ensembl chr12:38,251,086...38,279,654
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:36,819,864...36,847,490
Ensembl chr20:37,366,279...37,401,022
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:58,036,277...58,219,622
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:112,258,188...112,263,280
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.481G>T (human) RGD PMID:32771629 RGD:243049245 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:49,813,618...49,823,442
JBrowse link
G Itgam integrin subunit alpha M treatment ISO associated with aortic valve stenosis;protein:increased expression:monocyte (human) RGD PMID:28073885 PMID:26763077 RGD:329901660, RGD:329901663 NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247
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:17310097 PMID:18006559 PMID:22581653 More... RGD:1580501 NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168
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
CTD
ClinVar
PMID:10807545 PMID:11997281 PMID:12402336 PMID:12829173 PMID:14661677 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO mRNA:increased expression:heart atrium
ClinVar Annotator: match by term: Atrial fibrillation
ClinVar
RGD
PMID:15922306 PMID:17581963 PMID:19041665 PMID:19111761 PMID:22581653 More... RGD:7247428 NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29892015 PMID:30061737 PMID:11693772 RGD:1581701 NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:40,155,939...40,445,045
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20173747 PMID:30061737 NCBI chr 2:177,227,276...177,378,849
Ensembl chr 2:177,234,327...177,379,693
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar
RGD
PMID:12522251 PMID:15368194 PMID:16109388 PMID:17467630 PMID:17997361 More... RGD:1580507 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Kdm1b lysine demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:17,809,232...17,850,141
Ensembl chr17:17,809,232...17,850,068
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:32,086,124...32,126,066
JBrowse link
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:29,424,620...29,432,637
JBrowse link
G Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:128,687,723...128,788,219
Ensembl chr 4:128,687,723...128,788,219
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:1,275,139...2,334,153
Ensembl chr15:1,274,199...2,334,089
JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:54,572,935...54,574,332
Ensembl chr 7:54,572,905...54,582,263
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:54,075,084...54,139,389
JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:67,167,600...67,188,595
Ensembl chr18:69,442,152...69,463,846
JBrowse link
G Mir29a microRNA 29a disease_progression ISO RNA:decreased expression:blood serum (human) RGD PMID:34887365 RGD:242905206 NCBI chr 4:60,617,955...60,618,042 JBrowse link
G Mir29b1 microRNA 29b-1 disease_progression ISO RNA:increased expression:blood serum (human) RGD PMID:34887365 RGD:242905206 NCBI chr 4:60,618,334...60,618,414 JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:102,021,543...102,021,629 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:19734590 PMID:20935575 RGD:8549736, RGD:8693675 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:18194448 PMID:19734590 RGD:8547896, RGD:8549736 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 PMID:34515533 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:29892015 PMID:30061737 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126
JBrowse link
G Myo1c myosin 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:60,996,642...61,019,022
Ensembl chr10:60,996,638...61,019,022
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:50,332,356...50,426,819
Ensembl chr10:50,332,356...50,426,819
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265
JBrowse link
G Myoz1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:3,693,576...3,700,831
Ensembl chr15:3,693,613...3,700,826
JBrowse link
G Mypn myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:25,435,554...25,521,149
Ensembl chr20:25,435,554...25,521,149
JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:1,053,474...1,066,606
Ensembl chr 7:1,054,338...1,066,605
JBrowse link
G Nav2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:107,799,968...108,458,546
Ensembl chr 1:107,805,096...108,458,546
JBrowse link
G Nebl nebulette ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr17:85,022,953...85,374,848
Ensembl chr17:85,022,963...85,374,172
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:256,008,160...256,094,224
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:29892015 PMID:30061737 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr13:45,897,275...45,926,491
Ensembl chr13:45,897,248...45,923,101
JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:58,942,685...58,945,825
Ensembl chr 4:58,942,681...58,945,825
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:39855041 NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:82,212,896...82,273,803
Ensembl chr11:82,212,951...82,273,803
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:48,853,690...48,855,894
Ensembl chr 7:48,853,260...48,857,542
JBrowse link
G Phldb2 pleckstrin homology-like domain, family B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:54,859,173...55,078,212
Ensembl chr11:68,355,959...68,540,734
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
JBrowse link
G Pkp2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:33,166,512...33,182,241
Ensembl chr20:33,172,494...33,182,241
JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma
protein:increased expression:plasma:
RGD PMID:2946878 PMID:37294500 RGD:329901822, RGD:401794955 NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299
JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr13:48,305,844...48,354,329
Ensembl chr13:48,305,848...48,354,279
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 8:110,582,479...110,720,516
Ensembl chr 8:110,583,743...110,677,482
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058
JBrowse link
G Psmb7 proteasome 20S subunit beta 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:42,767,500...42,827,470
Ensembl chr 3:42,767,501...42,827,601
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:107,015,733...107,172,091
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO
ISS
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:29892015 PMID:30061737 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602
JBrowse link
G Reep3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,492,721...21,577,521
JBrowse link
G Ren renin ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO associated with heart valve disease;protein:increased expression:right atrial myocardium RGD PMID:33236535 RGD:242905189 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694
JBrowse link
G Rpl3l ribosomal protein L3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:14,258,418...14,268,988
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:14,251,841...14,253,697
Ensembl chr10:14,251,380...14,253,695
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:139,314,447...139,403,081
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:29892015 PMID:30061737 NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:9536098 PMID:10807545 PMID:11901046 PMID:14967853 PMID:15176425 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903
JBrowse link
G Sgca sarcoglycan, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:80,397,158...80,416,165
Ensembl chr10:80,405,566...80,419,616
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr 1:256,094,991...256,301,120
Ensembl chr 1:256,094,991...256,300,967
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000
JBrowse link
G Slc27a6 solute carrier family 27 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:52,040,241...52,099,622
Ensembl chr18:54,238,729...54,312,632
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,573,428...32,961,465
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:226,442,892...226,491,941
JBrowse link
G Slit2 slit guidance ligand 2 ISO associated with heart valve disease;protein:increased expression:right atrial myocardium RGD PMID:33236535 RGD:242905189 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:20,076,021...20,660,704
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:71,263,508...71,291,849
Ensembl chr18:71,263,508...71,291,849
JBrowse link
G Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:120,681,054...120,691,343
Ensembl chr 4:120,679,255...120,690,656
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664 PMID:22378279 PMID:25741868 PMID:27028743 PMID:28492532 More... NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) RGD PMID:21954878 RGD:8655869 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:51,238,722...51,401,446
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:54,871,793...54,873,497
Ensembl chr10:54,871,788...54,873,497
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:178,512,272...179,467,686
Ensembl chr 4:178,512,272...178,938,495
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:66,814,228...66,988,578
JBrowse link
G Sspn sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:180,620,762...180,666,893
Ensembl chr 4:180,627,848...180,662,284
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:20,510,230...20,555,123
Ensembl chr12:20,490,861...20,555,240
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723
JBrowse link
G Synpo2l synaptopodin 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:3,631,974...3,641,429
Ensembl chr15:3,681,104...3,690,673
JBrowse link
G Tbx5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359
JBrowse link
G Tfpi tissue factor pathway inhibitor IEP mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO associated with heart valve disease;protein:increased expression:right atrial myocardium RGD PMID:33236535 RGD:242905189 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
JBrowse link
G Tnf tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,902,616...54,911,913
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:9536098 PMID:17344846 PMID:17576681 PMID:20890277 PMID:23396983 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Tuba8 tubulin, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:156,111,964...156,141,436
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:165,049,897...165,153,572
Ensembl chr 5:165,049,897...165,153,572
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 8:75,973,278...76,049,151
Ensembl chr 8:75,974,615...76,049,153
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:97,285,799...97,476,376
Ensembl chr14:101,487,153...101,678,632
JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:4,487,316...4,782,579
Ensembl chr 1:4,489,925...4,782,356
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
G Vwf von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17890461 PMID:21497043 RGD:7205648 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:76,470,176...76,504,080
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277
JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:89,180,224...89,224,195
Ensembl chr10:89,216,801...89,224,195
JBrowse link
G Wnt8a Wnt family member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,411,833...26,417,426
JBrowse link
G Xpo1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:101,434,450...101,476,705
Ensembl chr14:101,434,517...101,476,714
JBrowse link
G Xpo7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:45,742,053...45,828,050
Ensembl chr15:52,151,743...52,237,729
JBrowse link
G Xxylt1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:69,658,481...69,790,938
Ensembl chr11:83,163,189...83,295,988
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19597491 PMID:19597492 PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:53,551,488...53,795,664
JBrowse link
G Zfp462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020
JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:83,558,772...83,567,511
Ensembl chr10:84,055,244...84,063,774
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,984,084...17,007,156
Ensembl chr10:16,984,084...17,028,858
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,891,317...16,903,561
Ensembl chr10:16,891,317...16,903,561
JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,903,607...16,967,450
Ensembl chr10:16,903,547...16,966,430
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:17,184,853...17,187,646
Ensembl chr10:17,184,823...17,187,644
JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:17,035,615...17,131,411
Ensembl chr10:17,035,615...17,131,376
JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:17,258,328...17,289,362
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
OMIM:108900
OMIM
ClinVar
MouseDO
PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452
JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,520,383...16,524,604 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:17,422,947...17,512,854
JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,755,267...16,767,447
JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial standstill 1 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9588401 PMID:16790700 PMID:20650941 PMID:20818502 PMID:21921585 More... NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493
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:15671429 PMID:15998690 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial standstill 2 | ClinVar Annotator: match by term: NPPA-related condition OMIM
ClinVar
PMID:6225642 PMID:19646991 PMID:22818067 PMID:23275345 PMID:23838598 More... NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
ClinVar Annotator: match by term: AV block
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10580070 PMID:17377071 PMID:23183350 PMID:24033266 PMID:25741868 More... RGD:12791032 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) RGD PMID:16896344 RGD:12914775 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: AV block ClinVar PMID:11804990 PMID:15671429 PMID:18048769 PMID:19056759 PMID:22581653 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32681584 PMID:33959666 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
Brugada syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Acaa1a acetyl-CoA acyltransferase 1A ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,956,126...127,966,348
Ensembl chr 8:127,956,129...127,966,241
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,016,589...128,056,193
Ensembl chr 8:128,016,526...128,048,171
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:17161064 PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:243,228,448...243,263,751
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22385640 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817017 PMID:21383000 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,520,478...127,644,999
Ensembl chr 8:127,520,499...127,644,999
JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,704,181...127,750,929
Ensembl chr 8:127,704,232...127,750,931
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,062,688...128,082,529
Ensembl chr 8:128,059,126...128,083,460
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25637381 PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:28,641,057...28,651,187
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,185,244...127,493,296
Ensembl chr 8:127,169,226...127,493,296
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:18313602 PMID:24144883 PMID:25741868 PMID:28492532 PMID:30847666 More... NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:110,726,282...110,728,047
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28986455 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
G Mir26a1 microRNA 26a-1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,633,048...127,633,137
Ensembl chr 8:127,633,048...127,633,137
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28778945 PMID:35533732 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:198,693,101...198,705,738
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:127,850,484...127,939,750
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:127,672,980...127,695,939
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:128,374,449...128,444,718
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome
CTD
ClinVar
PMID:22155597 PMID:25741868 NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:235469 PMID:235504 PMID:256650 PMID:291807 PMID:461398 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slc22a13 solute carrier family 22 member 13 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,800,097...127,811,750
Ensembl chr 8:127,800,097...127,811,724
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,894,537...118,916,416
Ensembl chr 8:127,772,275...127,785,993
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,673,964...1,791,902
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:26220970 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,654,491...127,672,742
Ensembl chr 8:127,654,595...127,672,753
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:127,971,194...128,012,511
Ensembl chr 8:127,966,100...128,006,571
JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:31568572 PMID:31983221 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19012347 PMID:19159394 PMID:25741868 PMID:27611364 PMID:28973303 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 More... NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19716085 PMID:22581653 PMID:23861362 PMID:25417810 PMID:25637381 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:96,460,331...96,566,075
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:24998131 PMID:25053638 PMID:25650408 PMID:25691538 PMID:25691686 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO
OMIM:601144
ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
MouseDO
ClinVar
OMIM
PMID:1309946 PMID:1452303 PMID:2107088 PMID:2247482 PMID:3871168 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405
JBrowse link
Brugada syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh6 alkB homolog 6 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,690,979...94,696,429
Ensembl chr 1:94,691,822...94,696,427
JBrowse link
G Aplp1 amyloid beta precursor like protein 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,824,330...94,834,705
Ensembl chr 1:94,824,072...94,834,610
JBrowse link
G Arhgap33 Rho GTPase activating protein 33 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,903,566...94,917,074
Ensembl chr 1:94,902,922...94,917,684
JBrowse link
G Atp4a ATPase H+/K+ transporting subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,089,122...95,102,277
Ensembl chr 1:95,089,122...95,102,277
JBrowse link
G Capns1 calpain, small subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:94,572,083...94,583,368
JBrowse link
G Cd22 CD22 molecule ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:95,244,868...95,259,730
JBrowse link
G Clip3 CAP-GLY domain containing linker protein 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:94,674,661...94,690,642
JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431
JBrowse link
G Cox7a1 cytochrome c oxidase subunit 7A1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,549,663...94,572,330
Ensembl chr 1:94,569,216...94,570,889
JBrowse link
G Dmkn dermokine ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:95,141,620...95,157,439
JBrowse link
G Etv2 ETS variant transcription factor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:95,017,687...95,021,457
JBrowse link
G Fam187b family with sequence similarity 187, member B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:95,332,631...95,371,536
JBrowse link
G Ffar1 free fatty acid receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:95,238,785...95,239,691
JBrowse link
G Ffar2 free fatty acid receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,199,277...95,202,599
Ensembl chr 1:95,199,271...95,202,623
JBrowse link
G Ffar3 free fatty acid receptor 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:95,232,336...95,234,354
JBrowse link
G Fxyd1 FXYD domain-containing ion transport regulator 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,414,556...95,418,645
Ensembl chr 1:95,414,557...95,418,591
JBrowse link
G Fxyd3 FXYD domain-containing ion transport regulator 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,432,918...95,440,129
Ensembl chr 1:95,432,919...95,439,702
JBrowse link
G Fxyd5 FXYD domain-containing ion transport regulator 5 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,395,327...95,404,722
Ensembl chr 1:95,395,146...95,405,364
JBrowse link
G Fxyd7 FXYD domain-containing ion transport regulator 7 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:95,405,225...95,414,345
JBrowse link
G Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:95,106,518...95,121,055
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297
JBrowse link
G Haus5 HAUS augmin-like complex, subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:95,039,800...95,050,778
JBrowse link
G Hcst hematopoietic cell signal transducer ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,804,429...94,806,661
Ensembl chr 1:94,804,430...94,806,641
JBrowse link
G Hpn hepsin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,464,468...95,480,169
Ensembl chr 1:95,464,470...95,480,199
JBrowse link
G Hspb6 heat shock protein family B (small) member 6 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:94,933,543...94,936,512
JBrowse link
G Igflr1 IGF-like family receptor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:94,945,967...94,948,473
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:94,836,243...94,846,119
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:94,949,144...94,968,441
JBrowse link
G Krtdap keratinocyte differentiation associated protein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:95,165,862...95,169,012
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:95,414,058...95,433,289
JBrowse link
G Lin37 lin-37 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:94,936,512...94,940,444
JBrowse link
G Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,744,315...94,751,001
Ensembl chr 1:94,744,321...94,751,178
JBrowse link
G Lsr lipolysis stimulated lipoprotein receptor ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,313,830...95,329,471
Ensembl chr 1:95,313,033...95,329,354
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060
JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:94,808,453...94,817,861
JBrowse link
G Ovol3 ovo-like zinc finger 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:94,612,417...94,616,053
JBrowse link
G Polr2i RNA polymerase II subunit I ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,610,976...94,612,413
Ensembl chr 1:94,610,942...94,613,000
JBrowse link
G Prodh2 proline dehydrogenase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:94,881,061...94,894,609
JBrowse link
G Proser3 proline and serine rich 3 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,920,802...94,934,126
Ensembl chr 1:94,920,817...94,933,296
JBrowse link
G Psenen presenilin enhancer gamma secretase subunit ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:94,942,225...94,943,752
JBrowse link
G Rbm42 RNA binding motif protein 42 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:95,026,050...95,035,980
JBrowse link
G Sbsn suprabasin ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:95,120,927...95,134,220
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 PMID:9894880 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197
JBrowse link
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,703,662...94,704,611
Ensembl chr 1:94,702,409...94,706,092
JBrowse link
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:94,696,609...94,701,230
JBrowse link
G Tbcb tubulin folding cofactor B ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:94,605,101...94,610,949
JBrowse link
G Thap8 THAP domain containing 8 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:95,104,452...95,106,283
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299
JBrowse link
G U2af1l4 U2 small nuclear RNA auxiliary factor 1-like 4 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,943,684...94,945,906
Ensembl chr 1:94,942,544...94,946,391
JBrowse link
G Upk1a uroplakin 1A ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:94,987,108...94,997,787
JBrowse link
G Usf2 upstream transcription factor 2, c-fos interacting ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:95,302,105...95,313,119
JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223
JBrowse link
G Zbtb32 zinc finger and BTB domain containing 32 ISO ClinVar Annotator: match by term: Brugada syndrome 5 ClinVar PMID:28492532 NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:94,969,374...94,971,679
JBrowse link
Brugada syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar Annotator: match by term: KCNE3-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:163,916,695...163,919,022
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
ISS
ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 | ClinVar Annotator: match by term: SCN3B-related condition
OMIM:613120
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20031595 PMID:20042427 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
Brugada syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,595,194...68,623,179
Ensembl chr 8:68,595,248...68,623,178
JBrowse link
G Arid3b AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,089,141...67,136,764
Ensembl chr 8:67,083,802...67,152,245
JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358
JBrowse link
G Ccdc33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,331,519...67,430,194
Ensembl chr 8:67,331,519...67,413,485
JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:67,829,048...67,864,505
JBrowse link
G Clk3 CDC-like kinase 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,048,121...67,063,192
Ensembl chr 8:67,048,123...67,062,881
JBrowse link
G Cplx3 complexin 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,899,438...66,906,200
Ensembl chr 8:66,899,438...66,906,200
JBrowse link
G Csk C-terminal Src kinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:66,925,651...66,930,274
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149
JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,002,032...67,047,563
Ensembl chr 8:67,002,014...67,047,559
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome 8
CTD
ClinVar
OMIM
PMID:9536098 PMID:12750403 PMID:15123648 PMID:16199547 PMID:17576681 More... NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560
JBrowse link
G Insyn1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,799,989...67,810,685
Ensembl chr 8:67,799,304...67,814,536
JBrowse link
G Islr immunoglobulin superfamily containing leucine-rich repeat ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,467,013...67,469,989
Ensembl chr 8:67,444,536...67,487,493
JBrowse link
G Islr2 immunoglobulin superfamily containing leucine-rich repeat 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,504,042...67,512,125
Ensembl chr 8:67,504,037...67,513,708
JBrowse link
G Lman1l lectin, mannose-binding, 1 like ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,906,684...66,925,512
Ensembl chr 8:66,906,624...66,919,584
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224
JBrowse link
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:66,844,116...66,852,016
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152
JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,892,678...67,959,231
Ensembl chr 8:67,892,702...67,959,236
JBrowse link
G Pml PML nuclear body scaffold ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083
JBrowse link
G Rec114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,959,181...68,117,296
Ensembl chr 8:67,958,421...68,119,234
JBrowse link
G Scamp2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,861,504...66,888,151
Ensembl chr 8:66,861,537...66,888,150
JBrowse link
G Sema7a semaphorin 7A (John Milton Hagen blood group) ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,244,318...67,267,060
Ensembl chr 8:67,243,824...67,267,058
JBrowse link
G Stoml1 stomatin like 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,557,846...67,565,734
Ensembl chr 8:67,557,847...67,565,730
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720
JBrowse link
G Tbc1d21 TBC1 domain family, member 21 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,657,409...67,669,558
Ensembl chr 8:67,657,410...67,669,558
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:68,806,632...68,812,417
JBrowse link
G Ubl7 ubiquitin-like 7 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:67,217,151...67,236,224
Ensembl chr 8:67,216,527...67,236,224
JBrowse link
G Ulk3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:66,888,788...66,895,379
JBrowse link
Brugada syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:15563876 PMID:21349352 PMID:21703448 PMID:22284586 PMID:22457051 More... NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name 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: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:12571597 PMID:15178757 PMID:18832177 PMID:22581653 PMID:23396983 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27114410 PMID:28492532 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27908349 PMID:28492532 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666 NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,800,814...85,827,429
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 PMID:28492532 NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28404607 PMID:28492532 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: cardiac conduction defect ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:25741868 PMID:28491533 PMID:28492532 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:1452303 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:246,441,076...246,462,854
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition OMIM
ClinVar
PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:246,396,891...246,664,954
JBrowse link
catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25260352 PMID:25633834 PMID:25741868 PMID:28492532 PMID:30847666 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 More... NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISS MouseDO NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:33,558,517...33,568,129
JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar NCBI chr14:5,807,795...5,853,325
Ensembl chr14:6,112,490...6,157,966
JBrowse link
G Mt2-ps1 metallothionein 2, pseudogene 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr20:3,163,749...3,164,121 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24510615 PMID:25741868 PMID:28492532 PMID:29255176 PMID:37652022 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:285698 PMID:1817325 PMID:2623051 PMID:9536098 PMID:11078270 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar NCBI chr14:24,732,241...24,805,272
Ensembl chr14:25,086,930...25,159,957
JBrowse link
G Trdn triadin ISO DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19403623 PMID:19763152 More... RGD:7327227 NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 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 1 ClinVar PMID:28492532 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:191,709,311...191,737,425
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More... NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:87,858,316...87,868,910
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 PMID:33552729 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Mab21l3 mab-21 like 3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:191,937,451...191,960,204
JBrowse link
G Mt2-ps1 metallothionein 2, pseudogene 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr20:3,163,749...3,164,121 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:192,132,686...192,138,186
JBrowse link
G Ryr2 ryanodine receptor 2 ISO
ISS
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM:604772
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
OMIM
ClinVar
MouseDO
PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slc22a15 solute carrier family 22, member 15 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:191,987,409...192,047,362
JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 ClinVar PMID:25741868 NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:246,396,891...246,664,954
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:76,511,871...76,543,468
JBrowse link
G Trdn triadin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More... NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:28492532 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186
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
ISS
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
OMIM:611938
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 ClinVar PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition OMIM
ClinVar
PMID:17666061 PMID:25741868 PMID:27861123 PMID:30790670 PMID:31737537 More... NCBI chr14:24,732,241...24,805,272
Ensembl chr14:25,086,930...25,159,957
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 OMIM
ClinVar
PMID:9536098 PMID:11569915 PMID:17576681 PMID:23040497 PMID:23388215 More... NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: TRDN-related condition | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness OMIM
ClinVar
PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:22422768 More... NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717
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 chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) RGD PMID:23295592 RGD:155260349 NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:12522116 PMID:25741868 PMID:28492532 NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:9536098 PMID:17470695 PMID:17576681 PMID:19716085 PMID:19841300 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
G Myl4 myosin, light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 PMID:28492532 PMID:29080865 NCBI chr10:89,949,733...89,985,308
Ensembl chr10:89,949,404...89,985,308
JBrowse link
G Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.Q175H (human) RGD PMID:25319568 RGD:155882443 NCBI chr15:50,852,965...50,857,060
Ensembl chr15:50,852,646...50,857,059
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: ATFB1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 ClinVar
OMIM
PMID:1309946 PMID:1452303 PMID:3953067 PMID:8661019 PMID:9716085 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 11 OMIM
ClinVar
PMID:9588401 PMID:16790700 PMID:20818502 PMID:23348765 PMID:24060583 More... NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 OMIM
ClinVar
PMID:9536098 PMID:15034580 PMID:17245405 PMID:17576681 PMID:23861362 More... NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 OMIM
ClinVar
PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197
JBrowse link
Familial Atrial Fibrillation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:53,508,005...53,523,571
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:53,954,404...53,979,005
JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,122,457...54,130,407
Ensembl chr 8:54,122,457...54,132,831
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:53,708,770...53,737,395
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,544,887...53,557,127
Ensembl chr 8:53,544,892...53,555,153
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067
JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,184,573...54,190,112
Ensembl chr 8:54,175,155...54,196,722
JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:54,200,617...54,211,876
JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:54,177,977...54,183,918
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,632,777...53,639,661
Ensembl chr 8:53,632,044...53,639,650
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,738,878...53,756,813
Ensembl chr 8:53,740,197...53,754,816
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:53,827,835...53,860,977
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,560,869...53,567,625
Ensembl chr 8:53,555,239...53,567,898
JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:53,472,849...53,486,567
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:53,657,256...53,669,629
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:53,568,281...53,573,079
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,525,576...53,541,101
Ensembl chr 8:53,527,236...53,540,555
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:53,570,364...53,577,802
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:53,602,604...53,614,997
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:53,984,242...54,000,836
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:54,281,644...54,313,500
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:54,243,556...54,256,074
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:54,257,226...54,279,665
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:53,481,012...53,485,661
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,486,866...53,503,498
Ensembl chr 8:53,486,867...53,503,523
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,900,338...53,948,325
Ensembl chr 8:53,900,338...53,949,518
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,630,333...53,632,810
Ensembl chr 8:53,629,861...53,632,808
Ensembl chr 8:53,629,861...53,632,808
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 | ClinVar Annotator: match by term: SCN2B-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17556197 PMID:17576681 PMID:17623065 More... NCBI chr 8:54,322,383...54,334,519
Ensembl chr 8:54,322,383...54,334,519
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:53,620,141...53,626,110
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:54,003,907...54,009,325
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:53,625,474...53,630,241
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:53,886,946...53,900,335
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345
Ensembl chr 8:54,009,522...54,013,129
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:54,132,801...54,174,835
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:53,675,994...53,677,986
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 ClinVar PMID:28492532 NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:53,580,939...53,595,377
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 | ClinVar Annotator: match by term: NUP155-related condition OMIM
ClinVar
PMID:15596564 PMID:19070573 PMID:25741868 PMID:28492532 NCBI chr 2:58,927,171...58,980,162
Ensembl chr 2:58,928,537...58,981,242
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 chr 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 | ClinVar Annotator: match by term: MYL4-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25807286 More... NCBI chr10:89,949,733...89,985,308
Ensembl chr10:89,949,404...89,985,308
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 3
CTD
ClinVar
OMIM
PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 PMID:2383558 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 | ClinVar Annotator: match by term: KCNE2-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10219239 PMID:10973849 PMID:10984545 PMID:11034315 PMID:11101505 More... NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168
JBrowse link
Familial Atrial Fibrillation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510039O18Rikl RIKEN cDNA 2510039O18 gene like ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:163,655,106...163,661,660
JBrowse link
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,790,565...163,802,174
Ensembl chr 5:163,791,887...163,802,174
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,215,223...164,220,408
Ensembl chr 5:164,215,223...164,220,584
JBrowse link
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,527,083...164,677,037
Ensembl chr 5:164,527,112...164,677,014
JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:164,358,306...164,388,485
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:163,717,439...163,748,198
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 5:158,672,015...158,720,806
Ensembl chr 5:163,955,160...164,003,950
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,813,308...163,846,609
Ensembl chr 5:163,816,502...163,855,174
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,278,414...164,302,067
Ensembl chr 5:164,278,440...164,302,067
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,876,079...163,881,508
Ensembl chr 5:163,875,757...163,881,508
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,866,517...163,875,928
Ensembl chr 5:163,866,517...163,875,614
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,859,909...163,865,693
Ensembl chr 5:163,859,916...163,865,574
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 5:163,846,678...163,859,851
Ensembl chr 5:163,846,687...163,859,851
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:164,308,991...164,332,705
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6225642 PMID:9536098 PMID:15017020 PMID:17460430 PMID:17576681 More... NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310
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 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,309,002...164,312,203
Ensembl chr 5:164,308,991...164,332,705
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:164,334,924...164,345,204
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,139,714...164,167,777
Ensembl chr 5:164,151,802...164,163,400
JBrowse link
Familial Atrial Fibrillation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 ClinVar PMID:21858020 PMID:28492532 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: KCNA5-related condition | ClinVar Annotator: match by term: altered potassium channel function
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15735608 PMID:16025157 PMID:16411137 PMID:16772329 PMID:17266934 More... NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
Familial Atrial Fibrillation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfhx3 zinc finger homeobox 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 8
CTD
OMIM
ClinVar
PMID:37449401 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:53,551,488...53,795,664
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 OMIM
ClinVar
PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
first-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: First degree atrioventricular block ClinVar PMID:21127202 PMID:24033266 PMID:24714796 PMID:25163546 PMID:25741868 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
JBrowse link
long QT syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: CALM3-related condition | ClinVar Annotator: match by term: Long QT syndrome 16 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23388215 PMID:24563457 PMID:24816216 More... NCBI chr 1:86,718,761...86,725,869
Ensembl chr 1:86,717,321...86,725,960
JBrowse link
Paroxysmal Atrial Fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO protein:decreased expression:serum: RGD PMID:16869456 RGD:11036095 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar PMID:14731347 PMID:19841300 PMID:23098067 PMID:25348405 PMID:25741868 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar NCBI chr18:1,802,519...1,926,988
Ensembl chr18:2,075,309...2,193,475
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar PMID:12566107 PMID:12818575 PMID:14563344 PMID:15114369 PMID:15115610 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human) RGD PMID:35601004 RGD:329337356 NCBI chr 1:24,520,499...24,523,358
Ensembl chr 1:24,520,481...24,523,348
JBrowse link
Postoperative Atrial Fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO DNA:SNP:intron:rs4642101 (human) RGD PMID:27203392 RGD:18899562 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:150,507,657...150,541,293
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:17383336 RGD:9495909 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO associated with coronary artery disease;protein:increased expression:plasma RGD PMID:32197906 RGD:401827167 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405
JBrowse link
G Gsn gelsolin susceptibility ISO DNA:SNP:: (rs2230287) (human) RGD PMID:27923400 RGD:329337380 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850
JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:18946567 RGD:9495910 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17846288 RGD:8547720 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
JBrowse link
progressive familial heart block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect progressive | ClinVar Annotator: match by term: HEREDITARY BUNDLE BRANCH SYSTEM DEFECT | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:25741868 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
Progressive Familial Heart Block Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
progressive familial heart block type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO
OMIM:113900
ClinVar Annotator: match by term: HEREDITARY BUNDLE BRANCH SYSTEM DEFECT | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
MouseDO
OMIM
ClinVar
PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
progressive familial heart block type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Kcna7 potassium voltage-gated channel subfamily A member 7 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,886,073...95,891,565
Ensembl chr 1:105,022,549...105,028,041
JBrowse link
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:105,037,457...105,038,445
JBrowse link
G Lin7b lin-7 homolog B, crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:104,983,368...104,986,795
Ensembl chr 1:104,982,771...104,986,078
JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:105,029,764...105,034,038
JBrowse link
G Ppfia3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:104,953,598...104,982,373
Ensembl chr 1:104,953,598...104,982,278
JBrowse link
G Ruvbl2 RuvB-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:105,038,487...105,051,851
Ensembl chr 1:105,038,174...105,051,720
JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:104,992,518...105,012,851
Ensembl chr 1:104,992,442...105,012,851
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related disorder
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
short QT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:20031608 PMID:20817017 PMID:22840528 PMID:23861362 PMID:25447171 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISS
ISO
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar Annotator: match by term: Short QT syndrome
MouseDO
ClinVar
PMID:11173780 PMID:12925462 PMID:14676148 PMID:15828882 PMID:18692916 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:8078584 PMID:15761194 PMID:17640933 PMID:22308236 PMID:22371365 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:9536098 PMID:11278406 PMID:15051636 PMID:15159330 PMID:17576681 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Short QT syndrome ClinVar PMID:25741868 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,315,069...3,405,163
JBrowse link
Short QT Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: KCNH2-related condition | ClinVar Annotator: match by term: Short QT syndrome type 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2294929 PMID:7889573 PMID:8700910 PMID:9024139 PMID:9536098 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
Short QT Syndrome 2 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short QT syndrome type 2
CTD
ClinVar
OMIM
PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 PMID:2383558 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
Short QT Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Short QT syndrome type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
Short QT Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a3 solute carrier family 4 member 3 ISO ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29167417 PMID:30420954 PMID:31315195 More... NCBI chr 9:77,036,243...77,053,940
Ensembl chr 9:84,485,085...84,497,738
JBrowse link
sick sinus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO DNA:SNP:promoter:-6G>A (human) RGD PMID:22242192 RGD:8548870 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Sinus node disease ClinVar NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:27182706 PMID:29947763 PMID:31847799 PMID:34831398 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21378987 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS
ISO
OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease
MouseDO
ClinVar
PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
Sick Sinus Syndrome 1, Autosomal Recessive 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: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar
OMIM
CTD
PMID:291807 PMID:461398 PMID:1309946 PMID:1452303 PMID:2107088 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
Sick Sinus Syndrome 2, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant
CTD
OMIM
ClinVar
PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More... NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
Sick Sinus Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to OMIM
ClinVar
PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
Sick Sinus Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb2 G protein subunit beta 2 ISO ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28219978 PMID:31698099 PMID:34183358 NCBI chr12:19,159,002...19,164,021
Ensembl chr12:24,795,827...24,800,796
JBrowse link
sinoatrial node disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISS MouseDO NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Sinoatrial node disease ClinVar NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sinoatrial node disease ClinVar PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
Sudden Unexpected Nocturnal Death Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17161064 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28341588 PMID:28492532 NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More... NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30847666 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:110,726,282...110,728,047
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More... NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More... NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:9536098 PMID:12097481 PMID:16199547 PMID:17576681 PMID:23115331 More... NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More... NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:1452303 PMID:2380016 PMID:3953067 PMID:8541846 PMID:8620612 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:28492532 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,673,964...1,791,902
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:26220970 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176 NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More... NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome ClinVar PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More... NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969
JBrowse link
third-degree atrioventricular block 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 ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:28492532 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Third degree atrioventricular block ClinVar NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162
JBrowse link
Wolff-Parkinson-White 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: Wolff-Parkinson-White pattern ClinVar NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 3:121,266,291...121,271,827
Ensembl chr 3:121,266,291...121,271,827
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:28492532 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:22584458 PMID:28492532 PMID:32233023 NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28191889 PMID:28492532 PMID:32233023 NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:194200 MouseDO NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,742,875...9,786,861
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25633834 PMID:25741868 PMID:28492532 PMID:28600387 PMID:28616568 More... NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:28492532 NCBI chr13:69,125,048...69,613,795
Ensembl chr13:69,132,305...69,612,983
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:18684293 PMID:21618644 PMID:28492532 PMID:32693635 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:8,324,843...9,242,209
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:32233023 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240
JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr10:39,068,432...39,151,552
Ensembl chr10:39,068,445...39,151,552
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:31983221 PMID:32233023 NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,800,814...85,827,429
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:10753933 PMID:20301308 PMID:21777565 PMID:25741868 PMID:28280240 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:9799083 PMID:12388934 PMID:15840476 PMID:17470695 PMID:19490272 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:23861362 PMID:28492532 PMID:30847666 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972
JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr13:67,924,872...68,051,986
Ensembl chr13:67,924,872...68,051,986
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:28663758 PMID:31383942 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISS OMIM:194200 MouseDO NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:16858239 PMID:17192269 PMID:18533079 PMID:19150014 PMID:20031602 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678
JBrowse link
G Myh6 myosin heavy chain 6 ISO DNA:missense mutation:exon:p.E1885K (c.5653G>A) (human)
ClinVar Annotator: match by term: Wolff-Parkinson-White pattern
ClinVar
RGD
PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More... RGD:12792281 NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12749056 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr17:85,022,953...85,374,848
Ensembl chr17:85,022,963...85,374,172
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:19064609 PMID:25741868 PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,911,258...29,919,659
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:32233023 PMID:37614113 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO
ISS
ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset
OMIM:194200
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More... RGD:1580719, RGD:1580718 NCBI chr 4:10,744,695...10,985,939
Ensembl chr 4:10,744,588...10,985,939
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364
JBrowse link
G Rhbdf1 rhomboid 5 homolog 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr10:15,911,282...15,924,214
Ensembl chr10:15,911,308...15,924,214
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:24033266 PMID:24558114 PMID:25041964 PMID:25467552 PMID:25637381 More... NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:18752142 PMID:18752973 PMID:22581653 PMID:25326637 PMID:25741868 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:11317356 PMID:12642503 PMID:14679580 PMID:15099345 PMID:15355436 More... NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:53,835,110...53,873,216
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:23631430 PMID:28492532 NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:31,475,963...31,534,009
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:32233023 PMID:33576403 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:28771489 PMID:32233023 NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:18781618 PMID:27879313 PMID:28492532 NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:9241277 PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 More... NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253
JBrowse link
G Tnnt1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,349,035...78,359,394
Ensembl chr 1:78,349,035...78,359,394
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:32233023 NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653
JBrowse link
G Ttc39a tetratricopeptide repeat domain 39A ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 5:124,165,102...124,204,740
Ensembl chr 5:129,380,753...129,433,372
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31983221 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar PMID:25741868 PMID:28492532 PMID:32233023 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,315,069...3,405,163
JBrowse link
G Wwp1 WW domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Wolff-Parkinson-White pattern ClinVar NCBI chr 5:33,092,379...33,185,887
Ensembl chr 5:37,895,398...37,982,959
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      thoracic disease 4057
        heart disease 3483
          heart conduction disease 467
            Brugada syndrome + 154
            Wolff-Parkinson-White syndrome 53
            atrial fibrillation + 269
            atrial standstill 1 3
            atrial standstill 2 1
            atrioventricular block + 32
            catecholaminergic polymorphic ventricular tachycardia + 31
            left bundle branch hemiblock 0
            postural orthostatic tachycardia syndrome 0
            progressive familial heart block + 13
            right bundle branch block + 0
            short QT syndrome + 9
            sinoatrial node disease + 13
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            heart conduction disease 467
              Brugada syndrome + 154
              Wolff-Parkinson-White syndrome 53
              atrial fibrillation + 269
              atrial standstill 1 3
              atrial standstill 2 1
              atrioventricular block + 32
              catecholaminergic polymorphic ventricular tachycardia + 31
              left bundle branch hemiblock 0
              postural orthostatic tachycardia syndrome 0
              progressive familial heart block + 13
              right bundle branch block + 0
              short QT syndrome + 9
              sinoatrial node disease + 13
paths to the root