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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term: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: heart rhythm disease
 primary_id: RDO:9002666
 xref: ICD9CM:426.6
For additional species annotation, visit the Alliance of Genome Resources.


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heart conduction disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISS MouseDO NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15331425, PMID:23170137, PMID:19648063 RGD:7829797, RGD:8142351 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agbl4 ATP/GTP binding protein-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:130,742,297...131,656,581
NCBI chr 5:130,286,393...130,305,884
Ensembl chr 5:131,380,297...131,455,211
Ensembl chr 5:131,380,297...131,455,211
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:73,553,111...73,991,992
Ensembl chr 6:73,553,210...73,990,534
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 onset ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
ClinVar
PMID:17161064, PMID:21859974, PMID:23861362, PMID:24448499, PMID:25649125, PMID:25741868, PMID:26159999, PMID:28492532, PMID:21859974 RGD:6767284, RGD:6767284 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015, PMID:30061737 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
JBrowse link
G Arhgap10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr19:34,138,978...34,406,593
Ensembl chr19:34,139,997...34,402,436
JBrowse link
G Armh3 armadillo-like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:265,574,715...265,757,254
Ensembl chr 1:265,575,448...265,757,389
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 1:146,399,217...146,556,437
Ensembl chr 1:146,399,217...146,556,171
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr17:19,160,986...19,533,814
Ensembl chr17:19,249,952...19,533,814
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Best3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:59,971,084...60,057,162
Ensembl chr 7:60,015,998...60,057,152
JBrowse link
G Calu calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:56,625,611...56,653,112
Ensembl chr 4:56,625,561...56,653,111
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs4642101 (human)
CTD PMID:29892015, PMID:30061737, PMID:29459676 RGD:18899563 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Casz1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:165,625,119...165,777,053
Ensembl chr 5:165,724,027...165,774,616
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:22544366, PMID:29892015 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638
JBrowse link
G Cd36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism
CTD PMID:29892015, PMID:16043935 RGD:8662360 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cep68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr14:104,501,759...104,523,330
Ensembl chr14:104,505,319...104,523,297
JBrowse link
G Cfl2 cofilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:83,390,782...83,840,356
Ensembl chr 4:83,391,283...83,836,351
JBrowse link
G Crp C-reactive protein disease_progression ISO associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma: RGD PMID:18811807, PMID:19645035 RGD:9491838, RGD:9491839 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr16:81,718,784...81,756,653
Ensembl chr16:81,719,028...81,756,654
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356304 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Cyth1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:107,197,983...107,281,285
Ensembl chr10:107,197,989...107,281,235
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dgkb diacylglycerol kinase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:57,516,351...58,277,385
Ensembl chr 6:57,516,713...58,277,279
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:37,237,482...37,365,258 JBrowse link
G Dpf3 double PHD fingers 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:106,660,569...106,971,310
Ensembl chr 6:106,721,349...106,971,250
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16762801, PMID:22669310 RGD:8661797 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Epha3 Eph receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:421,253...783,037
Ensembl chr11:421,135...782,954
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:52,289,979...52,378,726
Ensembl chr12:52,356,832...52,377,475
JBrowse link
G Fbxo32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:98,065,664...98,098,071
Ensembl chr 7:98,063,735...98,098,268
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:12,974,921...12,996,046
Ensembl chr14:12,974,921...12,995,584
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Frmd4b FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:129,658,137...129,984,735
Ensembl chr 4:129,658,840...129,846,642
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gja1 gap junction protein, alpha 1 susceptibility IEP
ISO
protein:increased localization:lateral plasma membrane, cardiac muscle cell
DNA:mutation:cds:p.G60S(mouse)
protein:decreased expression:myocardium of atrium
associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium
RGD PMID:11527649, PMID:21239638, PMID:12062341, PMID:16953110 RGD:7207850, RGD:12910123, RGD:8662382, RGD:8662373 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, somatic
CTD
ClinVar
PMID:16790700, PMID:29892015, PMID:30061737, PMID:16790700, PMID:11527649 RGD:1580393, RGD:7207850 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gnb4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 2:118,978,965...119,007,877
Ensembl chr 2:118,978,973...119,007,835
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:33,471,355...33,521,281
Ensembl chr20:33,471,351...33,521,311
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156
JBrowse link
G Gypc glycophorin C (Gerbich blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:25,312,386...25,344,614
Ensembl chr18:25,312,387...25,344,614
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:22544366, PMID:23861362, PMID:25145518, PMID:25145519, PMID:25642760, PMID:25741868, PMID:26467025, PMID:27173043, PMID:27659478, PMID:28104484, PMID:28182231, PMID:28254189, PMID:28492532, PMID:30061737 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:72,029,550...72,198,363
Ensembl chr 8:72,029,489...72,198,358
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:right atrium appendage, cytoplasm (human) RGD PMID:19211267 RGD:8695924 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:38,024,517...38,053,184
Ensembl chr12:38,024,519...38,053,085
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:38,935,820...38,963,444
Ensembl chr20:38,935,820...38,963,309
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr18:57,637,013...57,820,317
Ensembl chr18:57,654,290...57,819,698
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:110,901,940...110,904,288
Ensembl chr 6:110,901,940...110,904,288
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15368194, PMID:16487223, PMID:18006559, PMID:22581653, PMID:24681347, PMID:25741868, PMID:28492532, PMID:15368194 RGD:1580501 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD
ClinVar
PMID:10807545, PMID:11997281, PMID:12402336, PMID:12829173, PMID:14661677, PMID:14760488, PMID:15599693, PMID:16116052, PMID:16132053, PMID:16487223, PMID:17161064, PMID:17210839, PMID:18060054, PMID:18222980, PMID:18808722, PMID:19841300, PMID:22581653, PMID:23861362, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29892015, PMID:30061737 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO mRNA:increased expression:heart atrium
ClinVar Annotator: match by term: Atrial fibrillation
ClinVar PMID:15922306, PMID:19041665, PMID:19111761, PMID:22581653, PMID:23631430, PMID:25410959, PMID:28492532, PMID:23543060 RGD:7247428 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737, PMID:11693772 RGD:1581701 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20173747, PMID:30061737 NCBI chr 2:188,837,280...188,991,794
Ensembl chr 2:188,844,073...188,988,774
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:12522251, PMID:15368194, PMID:16109388, PMID:17467630, PMID:17997361, PMID:17999538, PMID:18599533, PMID:19632626, PMID:19841300, PMID:21224508, PMID:22250012, PMID:22508963, PMID:22581653, PMID:23375927, PMID:24006450, PMID:24818999, PMID:25348405, PMID:25974115, PMID:28492532, PMID:12522251 RGD:1580507 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kdm1b lysine demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:17,987,972...18,028,808
Ensembl chr17:17,987,972...18,028,808
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 6:27,768,943...27,815,611
Ensembl chr 6:27,768,943...27,815,611
JBrowse link
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G LOC689589 hypothetical protein LOC689589 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:129,154,544...129,175,596
Ensembl chr 5:129,154,445...129,175,597
JBrowse link
G Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:126,615,998...126,717,434
Ensembl chr 4:126,617,244...126,644,895
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:1,269,869...2,346,246 JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:60,087,361...60,088,758
Ensembl chr 7:60,087,429...60,088,250
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:69,549,937...69,571,736
Ensembl chr18:69,549,937...69,571,736
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:109,282,662...109,282,747
Ensembl chr 7:109,282,658...109,282,752
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:19734590, PMID:20935575 RGD:8549736, RGD:8693675 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:papillary muscle of left ventricle RGD PMID:18194448, PMID:19734590 RGD:8547896, RGD:8549736 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:25741868, PMID:29892015, PMID:30061737 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
G Myo1c myosin 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:63,803,311...63,819,614
Ensembl chr10:63,803,309...63,819,614
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:35,573,978...35,593,541
Ensembl chr18:35,574,002...35,593,541
JBrowse link
G Myoz1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:4,077,066...4,084,306
Ensembl chr15:4,077,091...4,084,314
JBrowse link
G Mypn myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:2,458,283...2,470,674
Ensembl chr 7:2,458,264...2,470,674
JBrowse link
G Nav2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:104,575,765...104,941,554
Ensembl chr 1:104,576,589...104,941,552
JBrowse link
G Nebl nebulette ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:28416822 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:266,953,006...267,038,879
Ensembl chr 1:266,952,561...267,038,883
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr13:48,679,726...48,709,663
Ensembl chr13:48,679,774...48,705,575
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:56,653,840...56,656,980
Ensembl chr 4:56,653,844...56,656,980
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:54,247,460...54,249,664
Ensembl chr 7:54,247,460...54,249,664
JBrowse link
G Phldb2 pleckstrin homology-like domain, family B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:60,042,879...60,051,229
Ensembl chr11:57,265,732...57,481,589
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pkp2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822, PMID:29892015, PMID:30061737 NCBI chr13:51,134,831...51,183,321
Ensembl chr13:51,134,525...51,183,269
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 8:109,481,352...109,621,462
Ensembl chr 8:109,482,614...109,621,408
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Psmb7 proteasome 20S subunit beta 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:22,890,072...22,951,718
Ensembl chr 3:22,871,105...22,952,063
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Reep3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:22,887,053...22,998,985
Ensembl chr20:22,913,694...22,999,010
JBrowse link
G Ren renin ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Rpl3l ribosomal protein L3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 5:139,379,256...139,466,805
Ensembl chr 5:139,385,429...139,466,081
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060, PMID:29892015, PMID:30061737 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial fibrillation
ClinVar Annotator: match by term: Atrial fibrillation, association with
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10807545, PMID:11901046, PMID:14967853, PMID:15176425, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16379539, PMID:17210839, PMID:17210841, PMID:17587741, PMID:18088563, PMID:18378609, PMID:18426444, PMID:18929244, PMID:19026623, PMID:19167345, PMID:19716085, PMID:19808477, PMID:19841300, PMID:20062060, PMID:20129283, PMID:20636320, PMID:21109022, PMID:21143119, PMID:21167004, PMID:21321465, PMID:22378279, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22995991, PMID:23414114, PMID:23465283, PMID:23571586, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24317018, PMID:24631775, PMID:24784157, PMID:25348405, PMID:25637381, PMID:25650408, PMID:25741868, PMID:25904541, PMID:26467025, PMID:27153395, PMID:27381756, PMID:27711072, PMID:28087566, PMID:28202948, PMID:28341781, PMID:28492532, PMID:29449639, PMID:30061737 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
JBrowse link
G Sgca sarcoglycan, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr 1:267,039,654...267,245,868
Ensembl chr 1:267,046,361...267,245,636
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Slc27a6 solute carrier family 27 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:53,609,497...53,667,833
Ensembl chr18:53,609,214...53,667,970
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 2:240,527,120...240,581,616
Ensembl chr 2:240,527,130...240,576,179
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr10:19,924,200...20,517,918
Ensembl chr10:20,320,878...20,518,518
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:118,478,075...118,487,633
Ensembl chr 4:118,478,075...118,534,280
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664, PMID:25741868 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) RGD PMID:21954878 RGD:8655869 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:46,228,077...46,287,171 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:56,260,514...56,263,503
Ensembl chr10:56,260,514...56,263,503
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 9:64,643,223...64,843,963
Ensembl chr 9:64,643,281...64,843,960
JBrowse link
G Sspn sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:180,291,389...180,325,799
Ensembl chr 4:180,291,389...180,324,408
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:17,488,482...17,533,334
Ensembl chr12:17,488,487...17,522,534
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366, PMID:29892015 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Synpo2l synaptopodin 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:4,064,706...4,074,151
Ensembl chr15:4,064,706...4,072,635
JBrowse link
G Tbx5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tfpi tissue factor pathway inhibitor IEP mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:20890277, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26383259, PMID:26498160, PMID:26516846, PMID:28492532, PMID:29892015, PMID:30061737 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tuba8 tubulin, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 4:153,774,511...153,791,223
Ensembl chr 4:153,774,486...153,791,328
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 8:72,207,970...72,284,871
Ensembl chr 8:72,207,972...72,284,873
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:108,060,653...108,264,706
Ensembl chr14:108,143,869...108,264,706
JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr 1:2,330,631...2,627,654
Ensembl chr 1:2,333,778...2,627,747
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vwf von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461, PMID:21497043 RGD:7205648 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 3:60,150,001...60,207,125
Ensembl chr 3:60,150,021...60,166,013
JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt8a Wnt family member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr18:27,331,236...27,336,829
Ensembl chr18:27,331,236...27,336,829
JBrowse link
G Xpo1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:108,007,421...108,049,088
Ensembl chr14:108,007,724...108,049,660
JBrowse link
G Xpo7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr15:52,357,845...52,443,055
Ensembl chr15:52,357,853...52,443,055
JBrowse link
G Xxylt1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015, PMID:30061737 NCBI chr11:73,198,404...73,330,682
Ensembl chr11:73,198,522...73,329,083
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19597491, PMID:19597492, PMID:22544366, PMID:29892015, PMID:30061737 NCBI chr19:42,753,983...42,925,794
Ensembl chr19:42,758,127...42,920,344
JBrowse link
G Zfp462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:86,513,645...86,523,375
Ensembl chr10:86,514,830...86,523,372
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978, PMID:9651244, PMID:10021345, PMID:10587520, PMID:10903346, PMID:10943630, PMID:10948187, PMID:11714651, PMID:12414819, PMID:12798584, PMID:13050604, PMID:14607454, PMID:15342699, PMID:15689439, PMID:15810002, PMID:15917268, PMID:16418214, PMID:16896344, PMID:17891434, PMID:18414213, PMID:18976153, PMID:19073351, PMID:19181906, PMID:19464101, PMID:19533775, PMID:19678963, PMID:19933292, PMID:19948535, PMID:20022124, PMID:20456451, PMID:20659440, PMID:20725931, PMID:20807224, PMID:20981092, PMID:21091212, PMID:21110066, PMID:21165553, PMID:21450989, PMID:21561848, PMID:21677783, PMID:22498567, PMID:22920929, PMID:22995991, PMID:23285148, PMID:23661673, PMID:24033266, PMID:24376681, PMID:24880466, PMID:25205790, PMID:25319568, PMID:25741868, PMID:25742962, PMID:26014430, PMID:26421664, PMID:26679770, PMID:27013732, PMID:28492532, PMID:29037160, PMID:30240412, PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Atrial standstill 1 OMIM
ClinVar
PMID:9588401, PMID:16790700, PMID:21921585, PMID:22199024, PMID:22713807, PMID:22912587, PMID:24060583, PMID:25205790, PMID:25741868, PMID:26137477, PMID:26279651, PMID:27930557, PMID:28457700, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067, PMID:12522116, PMID:15466643, PMID:15998690, PMID:16188595, PMID:16684018, PMID:19251209, PMID:19716085, PMID:20129283, PMID:20384651, PMID:20539757, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:23791817, PMID:24136861, PMID:24573164, PMID:24762805, PMID:25741868, PMID:25904541, PMID:26111534, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
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 OMIM:615745 ClinVar
OMIM
PMID:6225642, PMID:23275345 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17277016 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:30311386 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Atrioventricular block ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10580070, PMID:25469153 RGD:12791032 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) RGD PMID:16896344 RGD:12914775 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrioventricular conduction block ClinVar PMID:11804990, PMID:15671429, PMID:18048769, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Brugada syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:24033266, PMID:24503780, PMID:25741868, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Acaa1a acetyl-CoA acyltransferase 1A ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,027,880...128,036,471
Ensembl chr 8:128,027,958...128,036,236
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:23631430, PMID:23861362, PMID:25741868, PMID:26230511, PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar PMID:17224476, PMID:20817017, PMID:22385640, PMID:22581653, PMID:22840528, PMID:23414114, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24183960, PMID:25333069, PMID:25633834, PMID:25637381, PMID:25741868, PMID:25974115, PMID:27231019, PMID:27662471, PMID:27711072, PMID:28341588, PMID:28492532, PMID:28750076, PMID:30172029, PMID:30279520, PMID:30311386, PMID:30662450 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017, PMID:21383000, PMID:22840528, PMID:23414114, PMID:25527503, PMID:25741868, PMID:26467025, PMID:26498160, PMID:28492532 NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:23874304, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25467552, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,065,292...127,726,248
Ensembl chr 8:127,702,534...127,726,127
JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,788,919...127,835,986
Ensembl chr 8:127,789,048...127,834,637
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031617, PMID:20152563, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,133,398...128,153,110
Ensembl chr 8:128,133,431...128,153,110
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:11839626, PMID:15140536, PMID:17967976, PMID:17967977, PMID:19606473, PMID:19666841, PMID:19745168, PMID:19815826, PMID:20724705, PMID:22995991, PMID:23414114, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:26743238, PMID:27435932, PMID:27930701, PMID:28008009, PMID:28492532, PMID:28798025, PMID:28837624, PMID:29077258, PMID:30311386, PMID:30662450 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:25637381, PMID:25741868, PMID:28341588, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872634 NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,271,029...127,576,709
Ensembl chr 8:127,271,289...127,572,988
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:19122847, PMID:19306396, PMID:23861362, PMID:28492532 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr  X:113,583,844...113,584,459
Ensembl chr  X:113,583,844...113,584,459
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:11997281, PMID:14661677, PMID:14760488, PMID:15840476, PMID:16043162, PMID:16487223, PMID:19841300, PMID:22581653, PMID:22949429, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:19120683, PMID:20558321, PMID:22056721, PMID:22365152, PMID:22562657, PMID:22840528, PMID:23632791, PMID:24700710, PMID:25741868, PMID:28492532 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:18533079, PMID:20215591, PMID:21499742, PMID:21832025, PMID:21832052, PMID:21835320, PMID:22361390, PMID:23861362, PMID:24033266, PMID:24111713, PMID:25351510, PMID:25741868, PMID:26914223, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:27789736, PMID:28492532, PMID:29332214 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,920,349...128,009,951
Ensembl chr 8:127,920,349...128,009,951
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome
ClinVar PMID:20400443, PMID:20857253, PMID:21378009, PMID:21606390, PMID:21636032, PMID:23137101, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24200904, PMID:24704780, PMID:25650408, PMID:25676813, PMID:25741868, PMID:27930701, PMID:28166282, PMID:28492532, PMID:29288195 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1309182, PMID:11527630, PMID:11901046, PMID:12417552, PMID:15381640, PMID:15655131, PMID:16943940, PMID:18355654, PMID:20129283, PMID:21646736, PMID:22789973, PMID:23115331, PMID:23872634, PMID:24998131, PMID:25053638, PMID:25085921, PMID:25301907, PMID:25437880, PMID:25691538, PMID:25691686, PMID:25741868, PMID:25842276, PMID:26220970, PMID:26733327, PMID:27272739, PMID:28078312, PMID:28407228, PMID:28492532, PMID:29247119, PMID:30135145, PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD
ClinVar
PMID:22155597, PMID:25741868 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20031595, PMID:21051419, PMID:22284586, PMID:23257389, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:25650408, PMID:25741868, PMID:25757662, PMID:28492532, PMID:29247119 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601144
ClinVar
CTD
PMID:2107088, PMID:2380016, PMID:3953067, PMID:7651517, PMID:7889574, PMID:8541846, PMID:8620612, PMID:8661019, PMID:8917568, PMID:8972392, PMID:9495298, PMID:9506831, PMID:9521325, PMID:9686753, PMID:9753711, PMID:10377081, PMID:10448858, PMID:10471492, PMID:10508990, PMID:10532948, PMID:10618304, PMID:10662748, PMID:10690282, PMID:10711933, PMID:10727653, PMID:10772658, PMID:10807545, PMID:10940383, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11013131, PMID:11029409, PMID:11076825, PMID:11123251, PMID:11150514, PMID:11304498, PMID:11410597, PMID:11420310, PMID:11463728, PMID:11535573, PMID:11710892, PMID:11748104, PMID:11804990, PMID:11807557, PMID:11823453, PMID:11827685, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12051963, PMID:12106943, PMID:12123767, PMID:12193783, PMID:12209021, PMID:12354768, PMID:12471205, PMID:12522116, PMID:12566525, PMID:12569159, PMID:12574143, PMID:12574983, PMID:12639704, PMID:12650879, PMID:12650885, PMID:12673799, PMID:12687841, PMID:12693506, PMID:12695286, PMID:12736279, PMID:12741714, PMID:12820704, PMID:12845244, PMID:12877697, PMID:12898257, PMID:14500339, PMID:14523039, PMID:14625171, PMID:14654377, PMID:14676229, PMID:14687250, PMID:14736542, PMID:14753626, PMID:14760488, PMID:14961552, PMID:14967853, PMID:14985827, PMID:14990510, PMID:14998624, PMID:15023552, PMID:15028074, PMID:15047701, PMID:15051636, PMID:15057319, PMID:15120823, PMID:15121794, PMID:15136511, PMID:15161528, PMID:15176425, PMID:15184283, PMID:15277732, PMID:15338453, PMID:15466642, PMID:15466643, PMID:15520322, PMID:15556047, PMID:15579534, PMID:15599693, PMID:15621041, PMID:15655131, PMID:15671429, PMID:15689442, PMID:15828879, PMID:15840476, PMID:15840483, PMID:15851227, PMID:15851228, PMID:15851320, PMID:15851440, PMID:15877619, PMID:15890323, PMID:15910881, PMID:15992732, PMID:15996170, PMID:15998675, PMID:15998690, PMID:16038262, PMID:16039271, PMID:16061744, PMID:16132053, PMID:16144991, PMID:16155735, PMID:16188595, PMID:16239976, PMID:16254012, PMID:16266370, PMID:16267250, PMID:16267253, PMID:16325048, PMID:16344400, PMID:16379539, PMID:16414944, PMID:16426410, PMID:16453014, PMID:16453024, PMID:16521247, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16616735, PMID:16643399, PMID:16684018, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16764707, PMID:16864729, PMID:16922724, PMID:16945804, PMID:17075016, PMID:17081365, PMID:17088455, PMID:17141278, PMID:17161064, PMID:17185997, PMID:17198989, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17368591, PMID:17404158, PMID:17438607, PMID:17438610, PMID:17442746, PMID:17445919, PMID:17504259, PMID:17512504, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17675083, PMID:17697823, PMID:17698727, PMID:17728436, PMID:17805561, PMID:17854786, PMID:17892895, PMID:17897635, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18180363, PMID:18245395, PMID:18252757, PMID:18304999, PMID:18341814, PMID:18361072, PMID:18362431, PMID:18375968, PMID:18378609, PMID:18426444, PMID:18436145, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18465145, PMID:18507554, PMID:18508782, PMID:18551308, PMID:18596570, PMID:18599870, PMID:18616619, PMID:18697752, PMID:18708744, PMID:18752142, PMID:18752973, PMID:18848812, PMID:18849657, PMID:18929331, PMID:18976777, PMID:18984535, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19075524, PMID:19083750, PMID:19140927, PMID:19167345, PMID:19167409, PMID:19251209, PMID:19272188, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19336922, PMID:19350499, PMID:19406494, PMID:19412328, PMID:19561025, PMID:19564561, PMID:19597050, PMID:19606473, PMID:19632629, PMID:19648062, PMID:19666841, PMID:19706159, PMID:19716085, PMID:19762097, PMID:19799913, PMID:19808398, PMID:19808440, PMID:19808477, PMID:19841298, PMID:19841300, PMID:19843921, PMID:19862833, PMID:19875396, PMID:19957170, PMID:19996378, PMID:20022821, PMID:20025708, PMID:20031634, PMID:20090423, PMID:20100972, PMID:20102864, PMID:20102920, PMID:20110800, PMID:20123697, PMID:20129283, PMID:20137763, PMID:20174578, PMID:20339501, PMID:20381179, PMID:20384651, PMID:20395683, PMID:20403459, PMID:20448214, PMID:20458009, PMID:20470418, PMID:20486126, PMID:20513597, PMID:20539757, PMID:20541041, PMID:20564468, PMID:20609320, PMID:20636320, PMID:20646679, PMID:20812931, PMID:20875080, PMID:20877689, PMID:20960617, PMID:20960618, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21143119, PMID:21167004, PMID:21167176, PMID:21185501, PMID:21193062, PMID:21273195, PMID:21306642, PMID:21321465, PMID:21325150, PMID:21350584, PMID:21385947, PMID:21410720, PMID:21483645, PMID:21498565, PMID:21566136, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:21824921, PMID:21840964, PMID:21895525, PMID:21908450, PMID:22028457, PMID:22090165, PMID:22090166, PMID:22216297, PMID:22247482, PMID:22277643, PMID:22331908, PMID:22337857, PMID:22338672, PMID:22360817, PMID:22370247, PMID:22370996, PMID:22373669, PMID:22378279, PMID:22407026, PMID:22426227, PMID:22490985, PMID:22519808, PMID:22529811, PMID:22581653, PMID:22675453, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22705208, PMID:22710484, PMID:22717692, PMID:22721569, PMID:22739120, PMID:22766342, PMID:22789973, PMID:22795782, PMID:22840528, PMID:22885917, PMID:22899775, PMID:22984773, PMID:22995991, PMID:22999724, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23139254, PMID:23158531, PMID:23168001, PMID:23174487, PMID:23200271, PMID:23237912, PMID:23276942, PMID:23283979, PMID:23293604, PMID:23299917, PMID:23321620, PMID:23376825, PMID:23382499, PMID:23414114, PMID:23420830, PMID:23425522, PMID:23465283, PMID:23503384, PMID:23538271, PMID:23571586, PMID:23631430, PMID:23671135, PMID:23692053, PMID:23714088, PMID:23785128, PMID:23791817, PMID:23805106, PMID:23818691, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23872634, PMID:23874304, PMID:23936059, PMID:23963187, PMID:24033266, PMID:24055113, PMID:24059039, PMID:24136861, PMID:24144883, PMID:24167619, PMID:24168886, PMID:24295898, PMID:24317018, PMID:24332150, PMID:24349418, PMID:24363796, PMID:24365614, PMID:24388587, PMID:24400668, PMID:24463578, PMID:24524602, PMID:24529773, PMID:24573164, PMID:24573764, PMID:24582607, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24709866, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762593, PMID:24762805, PMID:24768612, PMID:24784157, PMID:24795344, PMID:24815523, PMID:24871449, PMID:24892747, PMID:24895455, PMID:24948852, PMID:24951569, PMID:24951663, PMID:24981977, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25119684, PMID:25163546, PMID:25171853, PMID:25172307, PMID:25179549, PMID:25194972, PMID:25210054, PMID:25210526, PMID:25274057, PMID:25326637, PMID:25344691, PMID:25348405, PMID:25351510, PMID:25370050, PMID:25410959, PMID:25460174, PMID:25467552, PMID:25554238, PMID:25624448, PMID:25637381, PMID:25649125, PMID:25650408, PMID:25741286, PMID:25741868, PMID:25748040, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26022185, PMID:26031372, PMID:26036855, PMID:26066609, PMID:26111534, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26164358, PMID:26173111, PMID:26189708, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26283144, PMID:26304136, PMID:26304620, PMID:26332594, PMID:26392562, PMID:26406308, PMID:26423924, PMID:26467025, PMID:26467377, PMID:26538325, PMID:26633542, PMID:26636822, PMID:26656175, PMID:26669661, PMID:26680202, PMID:26713557, PMID:26724572, PMID:26733869, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26798387, PMID:26822237, PMID:26884609, PMID:26888838, PMID:26916278, PMID:27041150, PMID:27066507, PMID:27077130, PMID:27082542, PMID:27153395, PMID:27281089, PMID:27287068, PMID:27321809, PMID:27332903, PMID:27381756, PMID:27435932, PMID:27485560, PMID:27532257, PMID:27554632, PMID:27566755, PMID:27668095, PMID:27676163, PMID:27707468, PMID:27711072, PMID:27784737, PMID:27816319, PMID:27834932, PMID:27871843, PMID:27896284, PMID:27930701, PMID:28018021, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28087622, PMID:28104484, PMID:28150151, PMID:28183570, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28323875, PMID:28341588, PMID:28341781, PMID:28344931, PMID:28391114, PMID:28412158, PMID:28416588, PMID:28449774, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28549997, PMID:28567303, PMID:28573431, PMID:28600387, PMID:28611029, PMID:28638671, PMID:28701297, PMID:28704380, PMID:28725320, PMID:28734073, PMID:28779003, PMID:28781330, PMID:28781849, PMID:28790152, PMID:28794082, PMID:28798025, PMID:28807990, PMID:28831623, PMID:28834665, PMID:28837624, PMID:28878402, PMID:29016939, PMID:29032884, PMID:29121719, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29449639, PMID:29517769, PMID:29540472, PMID:29540853, PMID:29574140, PMID:29652902, PMID:29672598, PMID:29728395, PMID:29759522, PMID:29759671, PMID:29764897, PMID:29773157, PMID:29791480, PMID:29806494, PMID:29874177, PMID:29884292, PMID:29915097, PMID:29997009, PMID:29998127, PMID:30050137, PMID:30059973, PMID:30079003, PMID:30084490, PMID:30086531, PMID:30146492, PMID:30153324, PMID:30165862, PMID:30232268, PMID:30244407, PMID:30254039, PMID:30311386, PMID:30364184, PMID:30371189, PMID:30419068, PMID:30662450, PMID:30690642, PMID:30758498, PMID:30828344, PMID:31191357, PMID:31262209, PMID:31333075, PMID:31477192, PMID:31568572, PMID:31680123 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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 8:127,885,268...127,900,829
Ensembl chr 8:127,885,268...127,900,463
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,858,425...127,871,192 JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr16:2,112,271...2,227,336
Ensembl chr16:2,112,274...2,227,309
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362, PMID:24033266, PMID:24037902, PMID:25741868, PMID:26332198, PMID:26467025, PMID:28492532, PMID:30871747 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:23382873, PMID:25741868, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:23396983, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26383259, PMID:26498160, PMID:26516846, PMID:28492532, PMID:29099038 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:31371117 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:127,735,233...127,753,313
Ensembl chr 8:127,735,258...127,753,349
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283, PMID:22789973, PMID:28492532 NCBI chr 8:128,041,875...128,076,951
Ensembl chr 8:128,044,084...128,076,946
JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:23861362, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:19012347, PMID:19159394, PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:15735608, PMID:16411137, PMID:21306642, PMID:23264583, PMID:23861362, PMID:24068186, PMID:28492532 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25741868 NCBI chr 4:176,783,287...176,789,143
Ensembl chr 4:176,782,498...176,789,304
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome 1 ClinVar PMID:25691538, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome 1
ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
ClinVar
OMIM
PMID:2107088, PMID:8661019, PMID:8972392, PMID:9521325, PMID:10377081, PMID:10508990, PMID:10532948, PMID:10590249, PMID:10618304, PMID:10690282, PMID:10727653, PMID:10807545, PMID:10940383, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11013131, PMID:11029409, PMID:11076825, PMID:11123251, PMID:11410597, PMID:11463728, PMID:11710892, PMID:11748104, PMID:11804990, PMID:11807557, PMID:11823453, PMID:11827685, PMID:11889015, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12106943, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12574143, PMID:12639704, PMID:12650879, PMID:12673799, PMID:12820704, PMID:12877697, PMID:14500339, PMID:14523039, PMID:14687250, PMID:14753626, PMID:14760488, PMID:14961552, PMID:14967853, PMID:14985827, PMID:15023552, PMID:15028074, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15277732, PMID:15338453, PMID:15466642, PMID:15520322, PMID:15556047, PMID:15579534, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15828879, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15910881, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267250, PMID:16267253, PMID:16325048, PMID:16344400, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16764707, PMID:16864729, PMID:16922724, PMID:17081365, PMID:17141278, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17442746, PMID:17504259, PMID:17512504, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17675083, PMID:17697823, PMID:17854786, PMID:17892895, PMID:17897635, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18180363, PMID:18245395, PMID:18304999, PMID:18361072, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18599870, PMID:18708744, PMID:18752142, PMID:18752973, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19251209, PMID:19272188, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19606473, PMID:19666841, PMID:19706159, PMID:19716085, PMID:19799913, PMID:19808398, PMID:19808477, PMID:19841298, PMID:19841300, PMID:19843921, PMID:19862833, PMID:19996378, PMID:20031634, PMID:20102864, PMID:20110800, PMID:20123697, PMID:20129283, PMID:20137763, PMID:20384651, PMID:20395683, PMID:20403459, PMID:20448214, PMID:20458009, PMID:20470418, PMID:20486126, PMID:20539757, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20877689, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21167176, PMID:21273195, PMID:21306642, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21483645, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:21840964, PMID:21908450, PMID:22028457, PMID:22090166, PMID:22247482, PMID:22277643, PMID:22337857, PMID:22338672, PMID:22370247, PMID:22373669, PMID:22378279, PMID:22426227, PMID:22490985, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22710484, PMID:22739120, PMID:22766342, PMID:22789973, PMID:22795782, PMID:22840528, PMID:22885917, PMID:22899775, PMID:22984773, PMID:22995991, PMID:22999724, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23139254, PMID:23174487, PMID:23200271, PMID:23237912, PMID:23293604, PMID:23299917, PMID:23321620, PMID:23382499, PMID:23414114, PMID:23420830, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23692053, PMID:23714088, PMID:23785128, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:23963187, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24295898, PMID:24317018, PMID:24332150, PMID:24349418, PMID:24388587, PMID:24463578, PMID:24524602, PMID:24529773, PMID:24573164, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762593, PMID:24762805, PMID:24784157, PMID:24795344, PMID:24815523, PMID:24871449, PMID:24892747, PMID:24895455, PMID:24948852, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25210054, PMID:25210526, PMID:25326637, PMID:25344691, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25467552, PMID:25554238, PMID:25624448, PMID:25637381, PMID:25650408, PMID:25741286, PMID:25741868, PMID:25748040, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26031372, PMID:26111534, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26189708, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26538325, PMID:26633542, PMID:26669661, PMID:26733869, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26798387, PMID:26822237, PMID:27077130, PMID:27082542, PMID:27153395, PMID:27281089, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27532257, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27816319, PMID:27834932, PMID:27896284, PMID:27930701, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28150151, PMID:28183570, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28341588, PMID:28341781, PMID:28344931, PMID:28391114, PMID:28412158, PMID:28416588, PMID:28449774, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28549997, PMID:28567303, PMID:28573431, PMID:28600387, PMID:28638671, PMID:28704380, PMID:28725320, PMID:28779003, PMID:28781330, PMID:28781849, PMID:28794082, PMID:28798025, PMID:28807990, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29449639, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29764897, PMID:29884292, PMID:29997009, PMID:29998127, PMID:30050137, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30153324, PMID:30311386, PMID:30364184, PMID:30371189, PMID:30419068, PMID:30662450, PMID:31191357, PMID:31333075, PMID:31568572 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Brugada syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO ClinVar Annotator: match by term: Brugada syndrome 2 OMIM
ClinVar
PMID:11839626, PMID:15140536, PMID:17967976, PMID:17967977, PMID:19606473, PMID:19666841, PMID:19745168, PMID:19815826, PMID:20724705, PMID:22995991, PMID:23414114, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:26743238, PMID:27435932, PMID:28008009, PMID:28492532, PMID:28798025, PMID:28837624, PMID:29077258, PMID:30311386, PMID:30662450 NCBI chr 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
Brugada syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Brugada syndrome 3 OMIM
ClinVar
PMID:17224476, PMID:20817017, PMID:22385640, PMID:22581653, PMID:23414114, PMID:23861362, PMID:24033266, PMID:24183960, PMID:25184293, PMID:25333069, PMID:25633834, PMID:25741868, PMID:25974115, PMID:26230511, PMID:26386135, PMID:27502440, PMID:27711072, PMID:28492532, PMID:29046645, PMID:30345660 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
Brugada syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome 4
ClinVar Annotator: match by OMIM:611876
OMIM
ClinVar
PMID:17224476, PMID:19358333, PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:23874304, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25467552, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28341588, PMID:28492532, PMID:29016939, PMID:30311386 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome 4 ClinVar PMID:17224476, PMID:20817017, PMID:22090166, PMID:22840528, PMID:23414114, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24752249, PMID:25637381, PMID:25741868, PMID:26230511, PMID:26636822, PMID:27711072, PMID:28341588, PMID:28492532, PMID:29016939, PMID:30311386 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 OMIM
ClinVar
PMID:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:9894880, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15671291, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17604911, PMID:17629415, PMID:17928445, PMID:18464934, PMID:18941776, PMID:19522081, PMID:19710327, PMID:19808477, PMID:20226894, PMID:20437590, PMID:20628201, PMID:20662403, PMID:21994374, PMID:22155597, PMID:22155598, PMID:22247482, PMID:22284586, PMID:22292491, PMID:22425777, PMID:22840528, PMID:22987075, PMID:23414114, PMID:23465283, PMID:23527921, PMID:23584539, PMID:23861362, PMID:24033266, PMID:24065921, PMID:24529773, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24662403, PMID:24747835, PMID:24981977, PMID:25253298, PMID:25668026, PMID:25741868, PMID:25827112, PMID:26042039, PMID:26467025, PMID:26498160, PMID:27207958, PMID:27216889, PMID:27277800, PMID:27435932, PMID:27896052, PMID:28074886, PMID:28331474, PMID:28341588, PMID:28449774, PMID:28492532, PMID:28600387, PMID:28681755, PMID:28726809, PMID:28837624, PMID:29056246, PMID:29758173, PMID:29915715, PMID:31465153, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
Brugada syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome 6 OMIM
ClinVar
PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16313760, PMID:16449802, PMID:17395131, PMID:18209471, PMID:19122847, PMID:19306396, PMID:22987075, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363, PMID:12414843, PMID:14504341, PMID:15037716, PMID:15212652, PMID:16449802, PMID:17395131, PMID:19306396, PMID:22987075, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:165,170,645...165,172,972
Ensembl chr 1:165,170,645...165,172,972
JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome 7 OMIM
ClinVar
PMID:20031595, PMID:20042427, PMID:20226894, PMID:21051419, PMID:22284586, PMID:23257389, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:24529773, PMID:25650408, PMID:25741868, PMID:25757662, PMID:27435932, PMID:27711072, PMID:28492532, PMID:29247119, PMID:30662450 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
JBrowse link
Brugada syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adpgk ADP-dependent glucokinase ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,088,871...64,116,832
Ensembl chr 8:64,088,913...64,116,832
JBrowse link
G Arih1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,166,359...64,268,555
Ensembl chr 8:64,166,360...64,268,555
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 OMIM
ClinVar
PMID:12750403, PMID:17646576, PMID:19165230, PMID:20693575, PMID:21615589, PMID:22840528, PMID:23178648, PMID:23623143, PMID:23861362, PMID:24033266, PMID:24569893, PMID:24607718, PMID:25145517, PMID:25145518, PMID:25145519, PMID:25467552, PMID:25642760, PMID:25741868, PMID:26206080, PMID:26467025, PMID:26688388, PMID:27173043, PMID:27182706, PMID:27659478, PMID:27930701, PMID:28086167, PMID:28104484, PMID:28182231, PMID:28254188, PMID:28254189, PMID:28255936, PMID:28341588, PMID:28492532, PMID:28855170, PMID:29247119, PMID:30196304, PMID:30578647 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:63,649,871...63,756,394
Ensembl chr 8:63,653,266...63,750,531
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:64,299,646...64,305,330
Ensembl chr 8:64,299,646...64,305,330
JBrowse link
Brugada syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:21349352, PMID:21640846, PMID:22284586, PMID:22336521, PMID:22457051, PMID:22840528, PMID:23400760, PMID:23414114, PMID:23963749, PMID:24762397, PMID:25214526, PMID:25741868, PMID:26016905, PMID:26467025, PMID:28492532, PMID:29053796, PMID:30776697 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868, PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
Cardiac Conduction Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap10 A-kinase anchoring protein 10 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:48,150,902...48,210,074
Ensembl chr10:48,150,902...48,210,074
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Cardiac Conduction Defect, Nonspecific term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by null ClinVar PMID:18464934 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:11234013, PMID:11748104, PMID:12569159, PMID:12574143, PMID:14523039, PMID:16922724, PMID:18065446, PMID:19251209, PMID:19606473, PMID:19716085, PMID:20025708, PMID:20031634, PMID:20129283, PMID:20384651, PMID:20539757, PMID:20564468, PMID:21552533, PMID:22581653, PMID:22885917, PMID:24136861, PMID:24573164, PMID:24815523, PMID:24948852, PMID:25624448, PMID:25637381, PMID:25741868, PMID:26022185, PMID:26031372, PMID:26916278, PMID:27082542, PMID:27554632, PMID:28492532, PMID:28781330, PMID:29167113, PMID:31191357 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy ClinVar PMID:25741868, PMID:30010057 NCBI chr 2:261,058,919...261,139,463 JBrowse link
G Tnni3k TNNI3 interacting kinase ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy OMIM
ClinVar
PMID:24925317, PMID:25741868, PMID:25791106, PMID:29355681, PMID:30010057 NCBI chr 2:261,069,210...261,337,294
Ensembl chr 2:261,069,203...261,337,163
JBrowse link
catecholaminergic polymorphic ventricular tachycardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362, PMID:25326637, PMID:25741868, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Calm1 calmodulin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
CTD
ClinVar
PMID:23040497, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26309258, PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12034872, PMID:12386154, PMID:14571276, PMID:16601229, PMID:17881003, PMID:18469084, PMID:18543230, PMID:18583715, PMID:18684293, PMID:19709828, PMID:20353949, PMID:20513597, PMID:20530761, PMID:21063088, PMID:21076409, PMID:21265816, PMID:21454795, PMID:21618644, PMID:22421959, PMID:22553997, PMID:23595086, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26230511, PMID:26671417, PMID:27930701, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884, PMID:30729048 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISS MouseDO NCBI chr 6:29,975,863...29,987,252
Ensembl chr 6:29,977,797...29,987,451
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar
CTD
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:11389482, PMID:12093772, PMID:12106942, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15131021, PMID:15175054, PMID:15197150, PMID:15364606, PMID:15364613, PMID:15466642, PMID:15544015, PMID:15721128, PMID:15749201, PMID:15887426, PMID:15890976, PMID:16084945, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16391617, PMID:16436635, PMID:16517285, PMID:16769042, PMID:16818210, PMID:16843546, PMID:16873551, PMID:17062961, PMID:17558603, PMID:17875969, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19541610, PMID:19597050, PMID:19709828, PMID:19781797, PMID:19913485, PMID:19926015, PMID:20080988, PMID:20106799, PMID:20157052, PMID:20513597, PMID:20676041, PMID:20851825, PMID:20961976, PMID:21292648, PMID:21315846, PMID:21454795, PMID:21478052, PMID:21616285, PMID:21645850, PMID:21652165, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22068070, PMID:22221940, PMID:22222782, PMID:22373669, PMID:22374134, PMID:22515980, PMID:22584762, PMID:22677073, PMID:22787013, PMID:22828895, PMID:23022705, PMID:23098067, PMID:23152493, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23479668, PMID:23595086, PMID:23651034, PMID:23757202, PMID:23820649, PMID:23861362, PMID:23871484, PMID:23978697, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24394973, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24728420, PMID:24743769, PMID:24793461, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25087098, PMID:25092222, PMID:25163546, PMID:25193700, PMID:25194972, PMID:25351510, PMID:25440180, PMID:25445213, PMID:25467552, PMID:25554238, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25814417, PMID:25835811, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26112015, PMID:26114861, PMID:26132555, PMID:26153920, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26383259, PMID:26498160, PMID:26569459, PMID:26633542, PMID:26656175, PMID:26688388, PMID:26704558, PMID:26743238, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27353043, PMID:27435932, PMID:27452199, PMID:27482086, PMID:27532257, PMID:27538377, PMID:27650965, PMID:27727376, PMID:27733687, PMID:27756708, PMID:27930701, PMID:28087566, PMID:28100344, PMID:28125075, PMID:28202948, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28416588, PMID:28422759, PMID:28449774, PMID:28492532, PMID:28567303, PMID:28600387, PMID:28620067, PMID:28697927, PMID:28750076, PMID:28771489, PMID:28798025, PMID:28961276, PMID:29032884, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:29555771, PMID:30086531, PMID:30197081, PMID:30311386, PMID:30403697, PMID:30615648, PMID:30835254, PMID:31112425 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:26,662,851...26,735,878
Ensembl chr14:26,662,965...26,737,657
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trdn triadin ISO DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar PMID:19763152, PMID:20307669, PMID:21520333, PMID:22406018, PMID:22422768, PMID:23035052, PMID:24033266, PMID:25650408, PMID:25741868, PMID:25922419, PMID:26200674, PMID:26768964, PMID:28492532, PMID:22422768 RGD:7327227 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:16253912, PMID:22581653, PMID:28492532 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:23040497, PMID:23388215, PMID:24563457, PMID:24816216, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:27165696, PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19398665, PMID:21618644, PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:12376891, PMID:12467752, PMID:14597414, PMID:15372542, PMID:17107595, PMID:19524666, PMID:23861362, PMID:23977161, PMID:24033266, PMID:24623722, PMID:24794538, PMID:25448463, PMID:25741868, PMID:28492532, PMID:28531892 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:1572740, PMID:8589694, PMID:11157710, PMID:11159936, PMID:11208676, PMID:12093772, PMID:12837242, PMID:12919952, PMID:14571276, PMID:15197150, PMID:15466642, PMID:15721128, PMID:15749201, PMID:15890976, PMID:16188589, PMID:16239587, PMID:16272262, PMID:16436635, PMID:16769042, PMID:16843546, PMID:16873551, PMID:17558603, PMID:17875969, PMID:17984046, PMID:18092949, PMID:18326664, PMID:18483626, PMID:18752142, PMID:19216760, PMID:19226252, PMID:19345240, PMID:19362677, PMID:19398665, PMID:19597050, PMID:19709828, PMID:19926015, PMID:20106799, PMID:20157052, PMID:20851825, PMID:21315846, PMID:21454795, PMID:21616285, PMID:21659649, PMID:21768539, PMID:21964171, PMID:22221940, PMID:22222782, PMID:22374134, PMID:22396703, PMID:22515980, PMID:22677073, PMID:22787013, PMID:23022705, PMID:23204524, PMID:23286974, PMID:23396983, PMID:23595086, PMID:23820649, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24447446, PMID:24503780, PMID:24558114, PMID:24631775, PMID:24978818, PMID:24981977, PMID:25041964, PMID:25092222, PMID:25163546, PMID:25194972, PMID:25351510, PMID:25467552, PMID:25637381, PMID:25650408, PMID:25713214, PMID:25741868, PMID:25844899, PMID:25925909, PMID:26018045, PMID:26114861, PMID:26189708, PMID:26272908, PMID:26332594, PMID:26498160, PMID:26633542, PMID:26656175, PMID:26899768, PMID:27054166, PMID:27153395, PMID:27194543, PMID:27229459, PMID:27231019, PMID:27353043, PMID:27435932, PMID:27452199, PMID:27482086, PMID:27532257, PMID:27538377, PMID:27727376, PMID:27756708, PMID:27930701, PMID:28100344, PMID:28125075, PMID:28237968, PMID:28256248, PMID:28404607, PMID:28492532, PMID:28567303, PMID:28620067, PMID:29247119, PMID:29396286, PMID:29453246, PMID:29511324, PMID:30086531, PMID:30311386, PMID:30403697 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar PMID:15840476, PMID:19841300, PMID:20129283, PMID:22581653, PMID:23805106, PMID:24033266, PMID:25351510, PMID:25741868, PMID:25904541, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:611938
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2
ClinVar
OMIM
PMID:11704930, PMID:12034872, PMID:12386154, PMID:14571276, PMID:16908766, PMID:17881003, PMID:18543230, PMID:18684293, PMID:19709828, PMID:20530761, PMID:21063088, PMID:21076409, PMID:21454795, PMID:21618644, PMID:22421959, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24503780, PMID:25163546, PMID:25651173, PMID:25691538, PMID:25741868, PMID:26196381, PMID:26671417, PMID:27157848, PMID:27930701, PMID:28074886, PMID:28404607, PMID:28492532, PMID:29032884 NCBI chr 2:204,512,361...204,568,643
Ensembl chr 2:204,512,302...204,568,656
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:25741868 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar PMID:24033266, PMID:25741868, PMID:26196381, PMID:28492532 NCBI chr 2:204,575,592...204,625,835
Ensembl chr 2:204,575,466...204,625,743
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by OMIM:614021
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 3
ClinVar
OMIM
PMID:17666061, PMID:25741868, PMID:27861123, PMID:30790670 NCBI chr14:26,662,851...26,735,878
Ensembl chr14:26,662,965...26,737,657
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 4 OMIM
ClinVar
PMID:23040497, PMID:23388215, PMID:23663249, PMID:24563457, PMID:24816216, PMID:24958779, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:26969752, PMID:27165696, PMID:27374306, PMID:27927985, PMID:28158429, PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
catecholaminergic polymorphic ventricular tachycardia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trdn triadin ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441
OMIM
ClinVar
PMID:22422768, PMID:24033266, PMID:25326635, PMID:25741868, PMID:25922419, PMID:26200674, PMID:28492532 NCBI chr 1:25,403,390...25,787,664
Ensembl chr 1:25,403,390...25,839,345
JBrowse link
familial atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:12522116, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO
ISS
ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770
ClinVar
MouseDO
PMID:17470695, PMID:19716085, PMID:19841300, PMID:21185501, PMID:22199116, PMID:22378279, PMID:22581653, PMID:22949429, PMID:23571586, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25854863, PMID:25985138, PMID:26159999, PMID:26318259, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648, PMID:31696929 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868, PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Myl4 myosin, light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
JBrowse link
G Nppa natriuretic peptide A ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nup155 nucleoporin 155 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISS OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770 MouseDO NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Familial Atrial Fibrillation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 1 ClinVar NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 OMIM
ClinVar
PMID:3953067, PMID:11901046, PMID:12522116, PMID:15466643, PMID:15579534, PMID:15996170, PMID:15998690, PMID:16414944, PMID:16684018, PMID:18088563, PMID:18180363, PMID:18378609, PMID:19026623, PMID:19251209, PMID:19716085, PMID:19808477, PMID:19996378, PMID:20129283, PMID:20384651, PMID:20403459, PMID:20539757, PMID:21051419, PMID:21126620, PMID:21596231, PMID:21824921, PMID:22247482, PMID:22581653, PMID:22685113, PMID:23321620, PMID:23791817, PMID:23838598, PMID:24033266, PMID:24136861, PMID:24144883, PMID:24573164, PMID:24606995, PMID:24762805, PMID:24784157, PMID:25051102, PMID:25650408, PMID:25741868, PMID:26111534, PMID:26213684, PMID:26743238, PMID:27153395, PMID:28341781, PMID:28391114, PMID:28492532, PMID:29202755, PMID:29449639 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
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
ClinVar Annotator: match by OMIM:614049
OMIM
ClinVar
PMID:9588401, PMID:16790700, PMID:20818502, PMID:23348765, PMID:24060583, PMID:25741868, PMID:28457700, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
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:17245405, PMID:25741868 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
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:5421039, PMID:9461582, PMID:9539778, PMID:9697698, PMID:9894880, PMID:11254444, PMID:11263970, PMID:11866477, PMID:12011299, PMID:12486163, PMID:14504340, PMID:14690046, PMID:15710580, PMID:15857929, PMID:16205844, PMID:17020904, PMID:17629415, PMID:17928445, PMID:18941776, PMID:19808477, PMID:20437590, PMID:20628201, PMID:21994374, PMID:22155597, PMID:22155598, PMID:22284586, PMID:22292491, PMID:22425777, PMID:22840528, PMID:23414114, PMID:23465283, PMID:23527921, PMID:23584539, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24065921, PMID:24567321, PMID:24605816, PMID:24623842, PMID:24747835, PMID:25253298, PMID:25741868, PMID:25827112, PMID:26467025, PMID:26498160, PMID:27216889, PMID:27277800, PMID:27435932, PMID:27896052, PMID:28331474, PMID:28341588, PMID:28492532, PMID:28837624, PMID:29758173, PMID:206282012 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
Familial Atrial Fibrillation 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 OMIM
ClinVar
PMID:19808477, PMID:23559163, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
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 OMIM:615770
OMIM
ClinVar
PMID:15596564, PMID:19070573, PMID:25741868 NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
JBrowse link
Familial Atrial Fibrillation 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 ClinVar PMID:20031595, PMID:20558140, PMID:21051419, PMID:22284586, PMID:23257389, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24144883, PMID:25650408, PMID:25741868, PMID:25757662, PMID:28492532, PMID:29247119 NCBI chr 8:44,136,413...44,159,011
Ensembl chr 8:44,136,496...44,159,010
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 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
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
OMIM
PMID:27066836, PMID:28492532 NCBI chr10:92,628,356...92,638,100
Ensembl chr10:92,628,356...92,638,100
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 ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 OMIM
ClinVar
PMID:2294929, PMID:8487283, PMID:9312006, PMID:9386136, PMID:9641694, PMID:9799083, PMID:9927399, PMID:10482963, PMID:10560595, PMID:10704188, PMID:10728423, PMID:10737999, PMID:10807545, PMID:10973849, PMID:11087258, PMID:11162126, PMID:11530100, PMID:11668641, PMID:11761407, PMID:11997281, PMID:12051962, PMID:12175777, PMID:12205113, PMID:12402336, PMID:12522251, PMID:12566525, PMID:12702160, PMID:12736279, PMID:14510661, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15176425, PMID:15192825, PMID:15234419, PMID:15242738, PMID:15368194, PMID:15466642, PMID:15500450, PMID:15547041, PMID:15746441, PMID:15781747, PMID:15840476, PMID:15913580, PMID:15935335, PMID:16038262, PMID:16132053, PMID:16155735, PMID:16414944, PMID:16487223, PMID:16556865, PMID:16556866, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17467630, PMID:17470695, PMID:17597962, PMID:17905336, PMID:17999538, PMID:18174212, PMID:18222468, PMID:18426444, PMID:18452873, PMID:18599533, PMID:18611041, PMID:18752142, PMID:19165230, PMID:19490272, PMID:19632626, PMID:19646991, PMID:19716085, PMID:19808498, PMID:19815527, PMID:19841300, PMID:19862833, PMID:20044973, PMID:20850564, PMID:20851114, PMID:21063070, PMID:21185501, PMID:21215473, PMID:21224508, PMID:21576493, PMID:21778721, PMID:21779290, PMID:22250012, PMID:22309168, PMID:22378279, PMID:22508963, PMID:22509038, PMID:22539601, PMID:22581653, PMID:22629021, PMID:22677073, PMID:22818067, PMID:22947121, PMID:22949429, PMID:23098067, PMID:23174487, PMID:23251633, PMID:23304551, PMID:23350853, PMID:23392653, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23851063, PMID:23861362, PMID:23890619, PMID:23935525, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24096004, PMID:24184248, PMID:24190995, PMID:24284363, PMID:24357532, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24631775, PMID:24667783, PMID:24681627, PMID:24687331, PMID:24762593, PMID:24861447, PMID:24912595, PMID:24920132, PMID:24947509, PMID:25236808, PMID:25348405, PMID:25447171, PMID:25559286, PMID:25608792, PMID:25637381, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25854863, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26159999, PMID:26318259, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26546361, PMID:26669661, PMID:26937405, PMID:27041150, PMID:27159321, PMID:27251404, PMID:27451284, PMID:27650965, PMID:27816319, PMID:27831900, PMID:27884173, PMID:28302345, PMID:28360401, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28600177, PMID:28704380, PMID:28720088, PMID:28944242, PMID:29197658, PMID:29247119, PMID:29379719, PMID:29740400, PMID:30571187, PMID:31696929, PMID:32238909 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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 OMIM
ClinVar
PMID:10219239, PMID:10973849, PMID:10984545, PMID:11034315, PMID:11101505, PMID:12923204, PMID:14661677, PMID:14760488, PMID:15368194, PMID:16000071, PMID:16487223, PMID:16922724, PMID:17210839, PMID:19219384, PMID:19716085, PMID:19841298, PMID:19863579, PMID:20042375, PMID:20981092, PMID:22378279, PMID:22581653, PMID:23098067, PMID:23382499, PMID:23465283, PMID:23631430, PMID:23861362, PMID:24055113, PMID:24144883, PMID:24606995, PMID:24631775, PMID:24681347, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26284702, PMID:27884173, PMID:28341588, PMID:28492532, PMID:28794082, PMID:30311386 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
Familial Atrial Fibrillation 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,888,069...164,898,387
Ensembl chr 5:164,886,813...164,898,420
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,311,794...165,318,361
Ensembl chr 5:165,312,130...165,316,652
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
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 5:165,051,522...165,099,826
Ensembl chr 5:165,052,871...165,083,487
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,913,085...164,943,012
Ensembl chr 5:164,913,906...164,927,869
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,374,964...165,398,195
Ensembl chr 5:165,374,951...165,398,217
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,972,483...164,977,912
Ensembl chr 5:164,972,480...164,977,916
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,962,921...164,972,273
Ensembl chr 5:164,963,433...164,971,903
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,956,285...164,962,075
Ensembl chr 5:164,956,280...164,959,851
JBrowse link
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,875,558...164,885,606
Ensembl chr 5:164,874,832...164,883,933
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 5:164,943,183...164,956,255
Ensembl chr 5:164,950,917...164,956,255
JBrowse link
G Masp2 mannan-binding lectin serine peptidase 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,415,105...165,429,857
Ensembl chr 5:165,415,136...165,430,054
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6
ClinVar Annotator: match by OMIM:612201
OMIM
ClinVar
PMID:19458086, PMID:19646991, PMID:20064500, PMID:22818067, PMID:23275345, PMID:25410959, PMID:25467552, PMID:25741868, PMID:26200358, PMID:28492532 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G RGD1305350 similar to RIKEN cDNA 2510039O18 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:164,751,413...164,757,680
Ensembl chr 5:164,751,440...164,757,680
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,405,168...165,408,325
Ensembl chr 5:165,405,168...165,408,320
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
JBrowse link
Familial Atrial Fibrillation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 7
ClinVar Annotator: match by OMIM:612240
OMIM
ClinVar
PMID:15735608, PMID:16025157, PMID:16411137, PMID:16772329, PMID:17266934, PMID:17872968, PMID:18209767, PMID:19343045, PMID:19443837, PMID:20018952, PMID:20646426, PMID:21306642, PMID:21685056, PMID:22402074, PMID:23264583, PMID:23861362, PMID:24033266, PMID:24068186, PMID:24936649, PMID:24950668, PMID:25076992, PMID:25410959, PMID:25741868, PMID:26129877, PMID:26383259, PMID:28492532, PMID:30311386 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
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:15922306, PMID:19041665, PMID:19111761, PMID:22581653, PMID:23631430, PMID:25410959, PMID:25741868, PMID:28341588, PMID:28492532, PMID:29874177 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
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:25741868, PMID:28492532 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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: LONG QT SYNDROME 16 OMIM
ClinVar
PMID:25460178 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar NCBI chr18:1,970,914...2,094,920
Ensembl chr18:1,970,914...2,094,920
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar PMID:12818575, PMID:14563344, PMID:15114369, PMID:15519027, PMID:20215591, PMID:22194935, PMID:22958901, PMID:23299917, PMID:23418287, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24503780, PMID:25741868, PMID:27153395, PMID:27532257, PMID:28492532, PMID:29367541, PMID:29540472 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:17383336 RGD:9495909 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:18946567 RGD:9495910 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17846288 RGD:8547720 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
postural orthostatic tachycardia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISS OMIM:604715 MouseDO NCBI chr19:15,391,682...15,431,274
Ensembl chr19:15,391,581...15,431,274
JBrowse link
progressive familial heart block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Hrc histidine rich calcium binding protein 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:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar PMID:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20110800, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: LENEGRE-LEV DISEASE
ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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 I ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G 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:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by OMIM:113900
OMIM
ClinVar
PMID:2107088, PMID:8661019, PMID:10471492, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16267253, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17587741, PMID:17605181, PMID:17675083, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18048769, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18245395, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18849657, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19666841, PMID:19716085, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19996378, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20609320, PMID:20636320, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21410720, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:22338672, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23174487, PMID:23299917, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24784157, PMID:24895455, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25102755, PMID:25172307, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25637381, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26743238, PMID:26746457, PMID:26749013, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27896284, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28567303, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29306897, PMID:29431662, PMID:29540472, PMID:29672598, PMID:29728395, PMID:29997009, PMID:30079003, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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 Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B ClinVar PMID:619595, PMID:20562447, PMID:21887725, PMID:28492532, PMID:30021168 NCBI chr 1:101,324,788...101,328,391
Ensembl chr 1:101,324,652...101,328,435
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B
ClinVar Annotator: match by term: Progressive familial heart block type IB
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
ClinVar Annotator: match by OMIM:604559
OMIM
ClinVar
PMID:619595, PMID:897853, PMID:7882468, PMID:19726882, PMID:20562447, PMID:21173080, PMID:21887725, PMID:22750058, PMID:23382873, PMID:24019741, PMID:25231975, PMID:25416190, PMID:25441424, PMID:25467552, PMID:25741868, PMID:26272755, PMID:26350513, PMID:26636822, PMID:26704558, PMID:26820365, PMID:27181684, PMID:27207958, PMID:28315637, PMID:28492532, PMID:28494446, PMID:30021168, PMID:30142439, PMID:30311386, PMID:30391667 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
second-degree atrioventricular block term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree ClinVar PMID:10587520 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
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, PMID:25633834, PMID:25741868, PMID:28492532 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: short QT syndrome ClinVar PMID:25741868, PMID:26467025 NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868, PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
PMID:11173780, PMID:12925462, PMID:14676148, PMID:15828882, PMID:18692916, PMID:19088443, PMID:19174314, PMID:19340359, PMID:19439805, PMID:19501051, PMID:21130771, PMID:22194679, PMID:22581653 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
PMID:15761194, PMID:22308236, PMID:22581653, PMID:28492532 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO
ISS
ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar
MouseDO
PMID:11278406, PMID:15051636, PMID:15159330, PMID:17470695, PMID:19716085, PMID:19841300, PMID:20436212, PMID:21185501, PMID:22199116, PMID:22378279, PMID:22581653, PMID:22949429, PMID:23571586, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25854863, PMID:25985138, PMID:26159999, PMID:26318259, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648, PMID:31696929 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868, PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: short QT syndrome ClinVar NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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: Short QT syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609620
OMIM
ClinVar
CTD
PMID:9544837, PMID:10483966, PMID:10862094, PMID:10973849, PMID:11173780, PMID:11468227, PMID:11668638, PMID:11854117, PMID:12925462, PMID:14661677, PMID:14676148, PMID:15051636, PMID:15828882, PMID:15840476, PMID:16414944, PMID:16432067, PMID:17905336, PMID:18724381, PMID:18776039, PMID:18808722, PMID:19088443, PMID:19439805, PMID:19490267, PMID:19501051, PMID:19716085, PMID:19841300, PMID:19862833, PMID:20659946, PMID:22194679, PMID:22573844, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23098067, PMID:23303164, PMID:23861362, PMID:24033266, PMID:24606995, PMID:25417810, PMID:25649125, PMID:25741868, PMID:26063740, PMID:26164358, PMID:26187847, PMID:26496715, PMID:26743238, PMID:26958806, PMID:28431243, PMID:28492532, PMID:28988457, PMID:29574456, PMID:29752375, PMID:30246897, PMID:30758498, PMID:30996762 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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 ClinVar Annotator: match by term: Short QT syndrome 2
ClinVar Annotator: match by OMIM:609621
OMIM
ClinVar
PMID:2294929, PMID:9641694, PMID:9799083, PMID:9927399, PMID:10482963, PMID:10704188, PMID:10737999, PMID:10807545, PMID:10973849, PMID:11087258, PMID:11278406, PMID:11530100, PMID:11668641, PMID:11761407, PMID:11997281, PMID:12175777, PMID:12402336, PMID:12566525, PMID:12736279, PMID:14510661, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15159330, PMID:15192825, PMID:15234419, PMID:15242738, PMID:15500450, PMID:15547041, PMID:15840476, PMID:15913580, PMID:15935335, PMID:16038262, PMID:16109388, PMID:16132053, PMID:16155735, PMID:16487223, PMID:16556865, PMID:16556866, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17470695, PMID:17597962, PMID:17999538, PMID:18222468, PMID:18426444, PMID:18599533, PMID:18611041, PMID:18752142, PMID:19490272, PMID:19716085, PMID:19815527, PMID:19841300, PMID:19862833, PMID:20436212, PMID:20851114, PMID:21063070, PMID:21185501, PMID:21215473, PMID:21778721, PMID:21779290, PMID:22250012, PMID:22309168, PMID:22378279, PMID:22539601, PMID:22581653, PMID:22629021, PMID:22677073, PMID:22947121, PMID:22949429, PMID:23098067, PMID:23174487, PMID:23304551, PMID:23375927, PMID:23392653, PMID:23465283, PMID:23571586, PMID:23861362, PMID:23890619, PMID:23935525, PMID:24006450, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24190995, PMID:24284363, PMID:24357532, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24667783, PMID:24762593, PMID:24818999, PMID:24912595, PMID:24920132, PMID:25236808, PMID:25348405, PMID:25351510, PMID:25608792, PMID:25637381, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25854863, PMID:25974115, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26159999, PMID:26168993, PMID:26318259, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26546361, PMID:26669661, PMID:26704558, PMID:26937405, PMID:27041150, PMID:27159321, PMID:27251404, PMID:27451284, PMID:27650965, PMID:27816319, PMID:27831900, PMID:27884173, PMID:28302345, PMID:28360401, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28588847, PMID:28600177, PMID:28704380, PMID:28720088, PMID:28944242, PMID:29197658, PMID:29247119, PMID:29379719, PMID:29740400, PMID:30571187, PMID:31696929, PMID:32238909 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
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 3 OMIM
ClinVar
PMID:15761194, PMID:15922306, PMID:16217063, PMID:16818210, PMID:17211524, PMID:19041665, PMID:19111761, PMID:22308236, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24861851, PMID:25410959, PMID:25741868, PMID:25847018, PMID:26467025, PMID:28003625, PMID:28341588, PMID:28492532, PMID:29874177 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO RGD PMID:15178757 RGD:1599114 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26831068 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISS OMIM:163800 | OMIM:608567 | OMIM:614090 MouseDO NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:26831068 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to
CTD
ClinVar
OMIM
PMID:20656787, PMID:21378987, PMID:24033266, PMID:25163546, PMID:25351510, PMID:25717017, PMID:25741868, PMID:28492532, PMID:28600387, PMID:28771489, PMID:28797094, PMID:28991257, PMID:29590334 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19039989 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO
ISS
ClinVar Annotator: match by term: Sick sinus syndrome
ClinVar Annotator: match by term: Sinus node disease
OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar
MouseDO
PMID:10377081, PMID:10727653, PMID:10961955, PMID:10973849, PMID:11901046, PMID:12877697, PMID:14523039, PMID:15840476, PMID:16379539, PMID:16453024, PMID:18451998, PMID:18452873, PMID:18508782, PMID:19716085, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20384651, PMID:20448214, PMID:20539757, PMID:21321465, PMID:22090166, PMID:22370247, PMID:22581653, PMID:23631430, PMID:24033266, PMID:24762805, PMID:24784157, PMID:24871449, PMID:25348405, PMID:25741868, PMID:25904541, PMID:26467025, PMID:27381756, PMID:28492532, PMID:28781849 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sick sinus syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
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, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1
OMIM
ClinVar
PMID:2107088, PMID:8661019, PMID:10508990, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11463728, PMID:11710892, PMID:11748104, PMID:11804990, PMID:11823453, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12193783, PMID:12354768, PMID:12471205, PMID:12566525, PMID:12569159, PMID:12639704, PMID:12820704, PMID:14500339, PMID:14523039, PMID:14760488, PMID:14967853, PMID:14985827, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15338453, PMID:15466642, PMID:15556047, PMID:15599693, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15840483, PMID:15851227<