Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: ICD9CM:426.6
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
heart conduction disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a2 solute carrier family 6 member 2 ISS MouseDO NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357
JBrowse link
atrial fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15331425 PMID:23170137 PMID:19648063 RGD:7829797, RGD:8142351 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agbl4 AGBL carboxypeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:125,254,963...126,534,367 JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21652096 RGD:6767560 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphisms, haplotypes:promoter:multiple RGD PMID:18239384 RGD:8548862 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO associated with Mitral Valve Insufficiency RGD PMID:20080265 RGD:5147453 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Akap6 A-kinase anchoring protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
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 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Ank2 ankyrin 2 onset ISO ClinVar Annotator: match by term: Atrial fibrillation RGD
ClinVar
PMID:17161064 PMID:21859974 PMID:23861362 PMID:24448499 PMID:25649125 More... RGD:6767284, RGD:6767284 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Aopep aminopeptidase O ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Apln apelin ISO protein:decreased expression:plasma RGD PMID:16278229 RGD:1626174 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Arhgap10 Rho GTPase activating protein 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313
JBrowse link
G Armh3 armadillo-like helical domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 1:244,666,250...244,848,688
Ensembl chr 1:244,667,033...244,848,689
JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Best3 bestrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:52,615,776...52,656,766
JBrowse link
G Calu calumenin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:57,949,086...57,976,589
Ensembl chr 4:57,948,997...57,976,593
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:rs4642101 (human)
CTD
RGD
PMID:29892015 PMID:30061737 PMID:29459676 RGD:18899563 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
JBrowse link
G Casq2 calsequestrin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Casz1 castor zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:22544366 PMID:29892015 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cav2 caveolin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
JBrowse link
G Cd36 CD36 molecule disease_progression ISO mRNA, protein:decreased expression:blood, leukocyte RGD PMID:21195211 RGD:6893544 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:17392495 RGD:8547746 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29892015 PMID:16043935 RGD:8662360 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cep68 centrosomal protein 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr14:94,447,973...94,470,533
Ensembl chr14:94,449,055...94,470,517
JBrowse link
G Cfl2 cofilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330
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 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
JBrowse link
G Cyth1 cytohesin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:103,402,727...103,485,826
Ensembl chr10:103,366,145...103,485,760
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20137276 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dgkb diacylglycerol kinase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:54,640,948...55,397,210
Ensembl chr 6:54,641,614...55,397,043
JBrowse link
G Dnah10 dynein, axonemal, heavy chain 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:31,823,451...31,946,857 JBrowse link
G Dpf3 double PHD fingers 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:102,841,403...103,125,558
Ensembl chr 6:102,846,029...103,125,493
JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16762801 PMID:22669310 RGD:8661797 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epha3 Eph receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:1,138,485...1,474,102
Ensembl chr11:1,140,985...1,473,900
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fbrsl1 fibrosin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:46,231,466...46,320,607
Ensembl chr12:46,231,495...46,320,357
JBrowse link
G Fbxo32 F-box protein 32 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:89,731,626...89,764,761
Ensembl chr 7:89,730,232...89,765,436
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:11,325,334...11,346,570
Ensembl chr14:11,325,334...11,345,997
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Frmd4b FERM domain containing 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:129,895,401...130,222,070
Ensembl chr 4:129,895,708...130,084,197
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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
RGD
PMID:16790700 PMID:29892015 PMID:30061737 PMID:16790700 PMID:11527649 RGD:1580393, RGD:7207850 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Gnb4 G protein subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:31,727,617...31,776,928
Ensembl chr20:31,727,620...31,776,903
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
JBrowse link
G Gypc glycophorin C (Gerbich blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:24,160,738...24,193,408
Ensembl chr18:24,160,739...24,193,204
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 chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
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 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:serum: RGD PMID:15008956 RGD:8548608 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hip1r huntingtin interacting protein 1 related ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:32,590,164...32,618,841
Ensembl chr12:32,590,165...32,618,734
JBrowse link
G Hsf2 heat shock transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:36,819,864...36,847,490
Ensembl chr20:36,819,864...36,850,174
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: therapeutic CTD PMID:7886817 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:17923414 RGD:8662962 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Irf2bpl interferon regulatory factor 2 binding protein-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19698954 NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:12228786 RGD:1580498 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Atrial fibrillation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15368194 PMID:16487223 PMID:18006559 PMID:22581653 PMID:24681347 More... RGD:1580501 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO mRNA:increased expression:heart atrium
ClinVar Annotator: match by term: Atrial fibrillation
ClinVar
RGD
PMID:15922306 PMID:19041665 PMID:19111761 PMID:22581653 PMID:23631430 More... RGD:7247428 NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:29892015 PMID:30061737 PMID:11693772 RGD:1581701 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar
RGD
PMID:12522251 PMID:15368194 PMID:16109388 PMID:17467630 PMID:17997361 More... RGD:1580507 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Kdm1b lysine demethylase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800
JBrowse link
G Kif3c kinesin family member 3C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
JBrowse link
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G LOC689589 hypothetical protein LOC689589 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:124,276,074...124,295,881
Ensembl chr 5:124,276,074...124,295,803
JBrowse link
G Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:127,130,899...127,230,956
Ensembl chr 4:127,130,898...127,231,513
JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749
JBrowse link
G Lrrc10 leucine-rich repeat-containing 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
JBrowse link
G Mex3c mex-3 RNA binding family member C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675
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 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:18194448 RGD:8547896 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:20935575 RGD:8693675 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Myh6 myosin heavy chain 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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 chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
JBrowse link
G Myo1c myosin 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:60,498,374...60,520,752
Ensembl chr10:60,498,280...60,520,752
JBrowse link
G Myocd myocardin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Myot myotilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Myoz1 myozenin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr15:3,644,333...3,651,584
Ensembl chr15:3,644,368...3,652,884
JBrowse link
G Mypn myopalladin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443
JBrowse link
G Naca nascent polypeptide associated complex subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992
JBrowse link
G Nav2 neuron navigator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337
JBrowse link
G Nebl nebulette ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:28416822 NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:246,066,642...246,152,890
Ensembl chr 1:246,067,100...246,152,903
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 PMID:29892015 PMID:30061737 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11761419 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15864246 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr13:43,345,091...43,374,316
Ensembl chr13:43,345,115...43,370,229
JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816
JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 7:46,967,433...46,969,637
Ensembl chr 7:46,967,409...46,969,861
JBrowse link
G Phldb2 pleckstrin homology-like domain, family B, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr11:54,859,173...55,078,212
Ensembl chr11:54,859,135...55,078,467
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pkp2 plakophilin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:84,661,783...84,727,730 JBrowse link
G Pln phospholamban ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 PMID:29892015 PMID:30061737 NCBI chr13:45,753,827...45,802,305
Ensembl chr13:45,753,827...45,802,261
JBrowse link
G Ppp2r3a protein phosphatase 2, regulatory subunit B'', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
JBrowse link
G Prrx1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
JBrowse link
G Psmb7 proteasome 20S subunit beta 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 3:22,357,777...22,417,748
Ensembl chr 3:22,354,698...22,417,937
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23460043 RGD:7242420 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060
JBrowse link
G Reep1 receptor accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
JBrowse link
G Reep3 receptor accessory protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,493,954...21,578,697
JBrowse link
G Ren renin ISO associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) RGD PMID:21911268 RGD:6892701 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rpl3l ribosomal protein L3-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
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 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Sele selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890461 NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
JBrowse link
G Sgca sarcoglycan, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28416822 NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc27a6 solute carrier family 27 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr18:52,040,241...52,099,622
Ensembl chr18:52,041,074...52,099,414
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
JBrowse link
G Slit3 slit guidance ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
JBrowse link
G Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 4:119,123,676...119,133,234
Ensembl chr 4:119,121,877...119,133,234
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Atrial fibrillation ClinVar PMID:18591664 PMID:25741868 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
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 chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sorl1 sortilin related receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062060 NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Spats2l spermatogenesis associated, serine-rich 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967
JBrowse link
G Sspn sarcospan ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:178,890,030...178,946,267
Ensembl chr 4:178,897,147...178,931,554
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 PMID:29892015 NCBI chr 6:94,537,088...94,848,085 JBrowse link
G Synpo2l synaptopodin 2-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:3,631,974...3,641,429
Ensembl chr15:3,631,834...3,641,429
JBrowse link
G Tbx5 T-box transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
JBrowse link
G Tfpi tissue factor pathway inhibitor IEP mRNA,protein:decreased expression:endocardium: RGD PMID:14610015 RGD:1299121 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:monocyte: RGD PMID:19167648 RGD:8552974 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tnf tumor necrosis factor ISO associated with Heart Valve Diseases;protein:increased expression:right atrium: RGD PMID:19169931 RGD:7401239 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
JBrowse link
G Ttn titin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation
CTD
ClinVar
PMID:17344846 PMID:20890277 PMID:23396983 PMID:23861362 PMID:24033266 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Tuba8 tubulin, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
JBrowse link
G Ube4b ubiquitination factor E4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509
JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
JBrowse link
G Usp34 ubiquitin specific peptidase 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376
JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr 1:2,666,983...2,962,276
Ensembl chr 1:2,669,592...2,962,044
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:heart: RGD PMID:20631454 RGD:8551825 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vwf von Willebrand factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17890461 PMID:21497043 RGD:7205648 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
JBrowse link
G Wdr1 WD repeat domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30061737 NCBI chr10:88,680,248...88,724,170
Ensembl chr10:88,680,248...88,724,099
JBrowse link
G Wnt8a Wnt family member 8A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544366 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283
JBrowse link
G Xpo1 exportin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr14:97,233,263...97,275,536
Ensembl chr14:97,233,270...97,275,498
JBrowse link
G Xpo7 exportin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr15:45,742,053...45,828,050
Ensembl chr15:45,742,053...45,828,050
JBrowse link
G Xxylt1 xyloside xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 PMID:30061737 NCBI chr11:69,658,481...69,790,938
Ensembl chr11:69,658,460...69,790,730
JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19597491 PMID:19597492 PMID:22544366 PMID:29892015 PMID:30061737 NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
JBrowse link
G Zfp462 zinc finger protein 462 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
JBrowse link
G Zpbp2 zona pellucida binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29892015 NCBI chr10:83,558,772...83,567,511
Ensembl chr10:83,559,016...83,567,508
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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 More... NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial standstill 2 OMIM
ClinVar
PMID:6225642 PMID:23275345 PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10580070 PMID:25469153 RGD:12791032 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: AV Block Third Degree Adverse Event ClinVar NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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 chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32681584 PMID:33959666 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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 8:119,079,401...119,088,624
Ensembl chr 8:119,079,775...119,088,624
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 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
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 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More... NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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 8:118,642,729...118,767,238
Ensembl chr 8:118,642,672...118,767,117
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 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672
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 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
JBrowse link
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28166811 PMID:28492532 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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 More... NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28986455 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
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 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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 More... NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
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 More... NCBI chr11:84,661,783...84,727,730 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 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12417552 More... NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
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 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by OMIM:601144
ClinVar
CTD
PMID:2107088 PMID:2380016 PMID:3953067 PMID:7651517 PMID:7889574 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Slc22a13l1 solute carrier family 22 member 13-like 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,958,209...118,972,614
Ensembl chr 8:118,961,000...118,966,046
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,894,537...118,916,446 JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:28492532 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) ClinVar PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
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 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 3:61,652,432...61,924,912 JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371117 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:118,776,718...118,794,983
Ensembl chr 8:118,776,742...118,794,983
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Brugada syndrome ClinVar PMID:20129283 PMID:22789973 PMID:28492532 NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848
JBrowse link
Brugada syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603
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 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Brugada syndrome 1
ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome
ClinVar
OMIM
PMID:2107088 PMID:8661019 PMID:8972392 PMID:9521325 PMID:9536098 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723
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 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Brugada syndrome 4 ClinVar PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22090166 More... NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
Brugada syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Brugada syndrome 5 OMIM
ClinVar
PMID:5421039 PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 More... NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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 More... NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Brugada syndrome 6 ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
JBrowse link
Brugada syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Brugada syndrome 7 OMIM
ClinVar
PMID:20031595 PMID:20042427 PMID:20226894 PMID:20558140 PMID:21051419 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Brugada syndrome 8 OMIM
ClinVar
PMID:9536098 PMID:12750403 PMID:17576681 PMID:17646576 PMID:19165230 More... NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
JBrowse link
G Neo1 neogenin 1 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
JBrowse link
G Tmem202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Brugada syndrome 8 ClinVar PMID:28492532 NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
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 More... NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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 chr10:46,545,464...46,608,768
Ensembl chr10:46,551,532...46,608,769
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO RGD PMID:11457872 RGD:12914774 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by null ClinVar PMID:18464934 NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific ClinVar PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 PMID:11123251 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 2:243,781,445...243,807,037 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 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268
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 chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Fkbp1b FKBP prolyl isomerase 1B ISS MouseDO NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:28492532 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:25741868 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar
CTD
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:11389482 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:24,732,241...24,805,272
Ensembl chr14:24,732,241...24,805,272
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 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... RGD:7327227 NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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 Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar PMID:16253912 PMID:22581653 PMID:28166811 PMID:28492532 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12034872 PMID:14571276 PMID:17881003 PMID:18543230 PMID:18684293 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 ClinVar PMID:28492532 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 ClinVar NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by OMIM:604772
OMIM
ClinVar
PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
JBrowse link
G Trdn triadin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Vangl1 VANGL planar cell polarity protein 1 ISO ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2 ClinVar NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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 chr14:24,732,241...24,805,272
Ensembl chr14:24,732,241...24,805,272
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 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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 More... NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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 chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
JBrowse link
G Myl4 myosin, light chain 4 ISO ClinVar Annotator: match by term: Familial atrial fibrillation ClinVar PMID:27066836 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363
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 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
Familial Atrial Fibrillation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: ATFB1 ClinVar PMID:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
Familial Atrial Fibrillation 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 OMIM
ClinVar
PMID:3953067 PMID:10711933 PMID:11076825 PMID:11123251 PMID:11804990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 More... NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
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 More... NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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:28166811 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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 More... NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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:9536098 PMID:17576681 PMID:27066836 PMID:28492532 NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363
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 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
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 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,932,094...158,937,597
Ensembl chr 5:158,932,794...158,937,324
JBrowse link
G Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
JBrowse link
G Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,995,318...159,018,946
Ensembl chr 5:158,995,313...159,018,940
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
JBrowse link
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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:6225642 PMID:15017020 PMID:17984371 PMID:19458086 PMID:19646991 More... NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G RGD1305350 similar to RIKEN cDNA 2510039O18 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,025,919...159,029,076
Ensembl chr 5:159,025,873...159,029,405
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 ClinVar PMID:28492532 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
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 More... NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697
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 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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 chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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
ClinVar Annotator: match by term: LONG QT SYNDROME 16
OMIM
ClinVar
PMID:25460178 PMID:25741868 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
JBrowse link
Paroxysmal Atrial Fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO protein:decreased expression:serum: RGD PMID:16869456 RGD:11036095 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Paroxysmal atrial fibrillation ClinVar NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689
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 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
JBrowse link
Postoperative Atrial Fibrillation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO DNA:SNP:intron:rs4642101 (human) RGD PMID:27203392 RGD:18899562 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
JBrowse link
G Crp C-reactive protein no_association ISO RGD PMID:17383336 RGD:9495909 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Il6 interleukin 6 disease_progression ISO RGD PMID:18946567 RGD:9495910 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma (human) RGD PMID:17846288 RGD:8547720 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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 chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357
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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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:9536098 PMID:10471492 PMID:10508990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
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:9536098 PMID:10471492 PMID:10508990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ClinVar Annotator: match by OMIM:113900
OMIM
ClinVar
PMID:2107088 PMID:8661019 PMID:9536098 PMID:10471492 PMID:10508990 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB
ClinVar Annotator: match by term: Progressive familial heart block type 1B
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
ClinVar Annotator: match by OMIM:604559
OMIM
ClinVar
PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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 chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
short QT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Short QT Syndrome 4
ClinVar Annotator: match by term: short QT syndrome
ClinVar PMID:20031608 PMID:20817017 PMID:22840528 PMID:23861362 PMID:25447171 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Short QT Syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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:8078584 PMID:15761194 PMID:17640933 PMID:22308236 PMID:22371365 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
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 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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 chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
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:10220144 PMID:10483966 PMID:10862094 PMID:10973849 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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