heart conduction disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

show annotations for term's descendants Sort by:
Rat (467 ) Mouse (468 ) Human (23704 ) Chinchilla (443 ) Bonobo (462 ) Dog (465 ) Squirrel (450 ) Pig (461 ) Green Monkey (462) Naked Mole-rat (442 ) All
Genes (467)

heart conduction disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel auxiliary subunit beta 2

ISO

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: Conduction system disorder

PMID:25741868 PMID:28491533 PMID:28492532

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

sodium voltage-gated channel beta subunit 1

ISO

ClinVar Annotator: match by term: Conduction system disorder

PMID:18464934 PMID:25741868

NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Conduction system disorder

PMID:1452303 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

solute carrier family 6 member 2

ISS

NCBI chr19:30,183,289...30,228,292
Ensembl chr19:30,183,383...30,223,348

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

ISO

DNA:deletion:intron:IVS16+1464-1751del (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:15331425 PMID:23170137 PMID:19648063

RGD:7829797, RGD:8142351

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942

G

AGBL carboxypeptidase 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:130,483,551...131,762,906

G

advanced glycosylation end product-specific receptor

ISO

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685

G

angiotensinogen

ISO

DNA:polymorphisms, haplotypes:promoter:multiple

RGD

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944

G

angiotensin II receptor, type 1a

ISO

associated with Mitral Valve Insufficiency

RGD

NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660

G

alanine-glyoxylate aminotransferase 2

ISO

DNA:missense mutation:cds:V498L (rs16899974) (human)

RGD

NCBI chr 2:61,063,416...61,104,828
Ensembl chr 2:61,063,419...61,105,090

G

A-kinase anchoring protein 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:75,919,350...76,359,667
Ensembl chr 6:75,919,513...76,355,036

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:21270786 PMID:23861362 PMID:25741868 PMID:27981572 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

ankyrin 2

onset

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:17161064 PMID:21859974 PMID:23861362 PMID:24448499 PMID:25649125 More...

RGD:6767284, RGD:6767284

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

aminopeptidase O

ISO

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015 PMID:30061737

NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,817,001...2,133,104

G

apelin

ISO

protein:decreased expression:plasma

RGD

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:132,081,759...132,091,246

G

Rho GTPase activating protein 10

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr19:30,448,572...30,710,315
Ensembl chr19:47,352,276...47,614,531

G

armadillo-like helical domain containing 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:254,615,274...254,797,673
Ensembl chr 1:254,615,274...254,781,315

G

aryl hydrocarbon receptor nuclear translocator 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:147,645,354...147,801,986
Ensembl chr 1:147,599,058...147,801,997

G

N-acylsphingosine amidohydrolase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr16:57,669,927...57,701,349
Ensembl chr16:57,669,750...57,718,305

G

ataxin 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr17:18,943,397...19,354,751
Ensembl chr17:19,208,200...19,356,790

G

BAG cochaperone 3

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:192,475,828...192,557,280

G

bestrophin 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:54,499,696...54,542,733

G

similar to human chromosome 1 open reading frame 185

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:124,276,074...124,295,881
Ensembl chr 5:129,503,817...129,524,656

G

calumenin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:58,914,421...58,941,956

G

calcium/calmodulin-dependent protein kinase II delta

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:217,698,551...217,960,276

G

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

NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:150,507,657...150,541,293

G

calsequestrin 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

castor zinc finger 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:164,527,083...164,677,037
Ensembl chr 5:164,527,112...164,677,014

G

caveolin 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:22544366 PMID:29892015

NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740

G

caveolin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:46,582,096...46,591,425

G

CD36 molecule

disease_progression

ISO

mRNA, protein:decreased expression:blood, leukocyte

RGD

NCBI chr 4:18,209,088...18,302,142

G

CD40 molecule

treatment

ISO

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847

G

cyclin-dependent kinase 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:31,601,192...31,781,701

G

cyclin-dependent kinase inhibitor 1A

ISO

mRNA,protein:increased expression:atriim
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29892015 PMID:16043935

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969

G

centrosomal protein 68

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:94,447,973...94,470,533
Ensembl chr14:98,649,993...98,671,868

G

cofilin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:78,090,843...78,094,888
Ensembl chr 6:78,090,843...78,094,888

G

glycoprotein hormones, alpha polypeptide

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464

G

component of oligomeric golgi complex 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:53,969,979...54,278,973

G

corin, serine peptidase

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:25741868 PMID:37913506

NCBI chr14:35,680,601...35,910,703
Ensembl chr14:36,034,993...36,264,649

G

cAMP responsive element binding protein 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:83,723,587...84,124,786
Ensembl chr 4:83,723,194...84,120,793

G

C-reactive protein

disease_progression

ISO

associated with Idiopathic dilation cardiomyopathy;protein:increased expression:plasma:

RGD

PMID:18811807 PMID:19645035

RGD:9491838, RGD:9491839

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514

G

citrate synthase

ISO

protein:decreased expression:left cardiac atrium

RGD

NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938

G

cullin 4A

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr16:83,086,688...83,124,503
Ensembl chr16:83,086,921...83,124,457

G

cytochrome P450, family 2, subfamily C, polypeptide 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798

G

cytohesin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,402,727...103,485,826
Ensembl chr10:103,864,804...103,984,383

G

desmin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347

G

diacylglycerol kinase, beta

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:60,368,101...61,124,420
Ensembl chr 6:60,368,519...61,124,420

G

dynein, axonemal, heavy chain 10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:37,484,444...37,607,810
Ensembl chr12:37,472,813...37,640,860

G

double PHD fingers 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:108,577,792...108,856,724
Ensembl chr 6:108,577,183...108,856,798

G

endothelin 1

severity

ISO

protein:increased expression:plasma (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16762801 PMID:22669310

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687

G

Eph receptor A3

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:14,585,041...14,920,721
Ensembl chr11:14,586,727...14,920,425

G

erb-b2 receptor tyrosine kinase 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772

G

estrogen receptor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709

G

fibrosin-like 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:51,891,211...51,979,715
Ensembl chr12:51,960,790...51,979,361

G

F-box protein 32

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:91,620,925...91,654,491

G

fibroblast growth factor 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,627,906...11,650,243

G

Fms related receptor tyrosine kinase 1

ISO

mRNA,protein:increased expression:heart:

RGD

NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750

G

FERM domain containing 4B

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:129,895,401...130,222,070
Ensembl chr 4:131,452,365...131,640,287

G

GATA binding protein 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609

G

GATA binding protein 5

ISO

DNA:mutation:cds:c.598T>G (p.W200G)(human)

RGD

NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327

G

gap junction protein, alpha 1

susceptibility

IEP
ISO

protein:increased localization:lateral plasma membrane, cardiac muscle cell
DNA:mutation:cds:p.G60S(mouse)
protein:decreased expression:myocardium of atrium
associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium

RGD

PMID:11527649 PMID:21239638 PMID:12062341 PMID:16953110

RGD:7207850, RGD:12910123, RGD:8662382, RGD:8662373

NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689

G

gap junction protein, alpha 5

ISO

ClinVar Annotator: match by term: Atrial fibrillation | ClinVar Annotator: match by term: Atrial fibrillation, somatic
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:9588401 PMID:16790700 PMID:24060583 PMID:24144883 PMID:25741868 More...

RGD:1580393, RGD:7207850

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512

G

G protein subunit beta 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:117,293,284...117,328,945

G

golgi associated PDZ and coiled-coil motif containing

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:31,727,617...31,776,904
Ensembl chr20:32,270,314...32,319,611

G

golgi SNAP receptor complex member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,085,323...89,105,665
Ensembl chr10:89,086,331...89,105,637

G

glycoprotein VI

ISO

associated with Acute Coronary Syndrome;protein:decreased expression, increased expression:platelet, plasma (human)

RGD

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:78,508,468...78,535,374

G

gelsolin

disease_progression

ISO

RGD

NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850

G

general transcription factor II I

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:28,037,344...28,112,677
Ensembl chr12:28,037,853...28,112,677

G

glycophorin C

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:24,434,921...24,467,592
Ensembl chr18:24,434,922...24,440,053

G

H19 imprinted maternally expressed transcript

disease_progression

ISO

RNA:increased expression:blood serum (human)

RGD

NCBI chr 1:207,160,175...207,162,851

G

heart and neural crest derivatives expressed 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr16:37,928,145...37,931,488
Ensembl chr16:37,928,145...37,931,488

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation

PMID:22544366 PMID:23861362 PMID:24607718 PMID:25145518 PMID:25145519 More...

NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495

G

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347

G

hepatocyte growth factor

ISO

protein:increased expression:serum:

RGD

NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851

G

hypoxia inducible factor 1 subunit alpha

ISO

protein:increased expression:right atrium appendage, cytoplasm (human)

RGD

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323

G

huntingtin interacting protein 1 related

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:32,590,164...32,618,841
Ensembl chr12:38,251,086...38,279,654

G

heat shock transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:36,819,864...36,847,490
Ensembl chr20:37,366,279...37,401,022

G

heparan sulfate proteoglycan 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971

G

5-hydroxytryptamine receptor 4

ISO

CTD Direct Evidence: therapeutic

NCBI chr18:55,765,981...55,949,921
Ensembl chr18:58,036,277...58,219,622

G

insulin-like growth factor 1 receptor

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664

G

interleukin 2

ISO

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672

G

interferon regulatory factor 2 binding protein-like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:112,258,188...112,263,280

G

ISL LIM homeobox 1

ISO

DNA:mutation:cds:c.481G>T (human)

RGD

NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:49,813,618...49,823,442

G

integrin subunit alpha M

treatment

ISO

associated with aortic valve stenosis;protein:increased expression:monocyte (human)

RGD

PMID:28073885 PMID:26763077

RGD:329901660, RGD:329901663

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943

G

potassium voltage-gated channel subfamily A member 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408

G

potassium voltage-gated channel subfamily D member 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ISO

RGD

NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:15368194 PMID:16487223 PMID:17310097 PMID:18006559 PMID:22581653 More...

NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168

G

potassium voltage-gated channel subfamily H member 2

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation

PMID:10807545 PMID:11997281 PMID:12402336 PMID:12829173 PMID:14661677 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

mRNA:increased expression:heart atrium
ClinVar Annotator: match by term: Atrial fibrillation

PMID:15922306 PMID:17581963 PMID:19041665 PMID:19111761 PMID:22581653 More...

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

G

potassium inwardly-rectifying channel, subfamily J, member 5

ISO

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29892015 PMID:30061737 PMID:11693772

NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101

G

potassium calcium-activated channel subfamily N member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:37,817,966...38,258,347
Ensembl chr18:40,155,939...40,445,045

G

potassium calcium-activated channel subfamily N member 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:20173747 PMID:30061737

NCBI chr 2:177,227,276...177,378,849
Ensembl chr 2:177,234,327...177,379,693

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:12522251 PMID:15368194 PMID:16109388 PMID:17467630 PMID:17997361 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

lysine demethylase 1B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,809,232...17,850,141
Ensembl chr17:17,809,232...17,850,068

G

kinesin family member 3C

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:32,086,124...32,126,066

G

LIM homeobox 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:29,424,620...29,432,637

G

leucine-rich repeats and immunoglobulin-like domains 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:128,687,723...128,788,219
Ensembl chr 4:128,687,723...128,788,219

G

leucine rich melanocyte differentiation associated

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:1,275,139...2,334,153
Ensembl chr15:1,274,199...2,334,089

G

leucine-rich repeat-containing 10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:54,572,935...54,574,332
Ensembl chr 7:54,572,905...54,582,263

G

microtubule-associated protein tau

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108

G

methyl-CpG binding domain protein 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:54,075,084...54,139,389

G

mex-3 RNA binding family member C

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:67,167,600...67,188,595
Ensembl chr18:69,442,152...69,463,846

G

microRNA 29a

disease_progression

ISO

RNA:decreased expression:blood serum (human)

RGD

NCBI chr 4:60,617,955...60,618,042

G

microRNA 29b-1

disease_progression

ISO

RNA:increased expression:blood serum (human)

RGD

NCBI chr 4:60,618,334...60,618,414

G

microRNA 30b

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:102,021,543...102,021,629

G

matrix metallopeptidase 1

ISO

protein:increased expression:papillary muscle of left ventricle

RGD

PMID:19734590 PMID:20935575

RGD:8549736, RGD:8693675

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964

G

matrix metallopeptidase 2

ISO

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856

G

matrix metallopeptidase 3

ISO

RGD

NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826

G

matrix metallopeptidase 9

ISO

protein:increased expression:papillary muscle of left ventricle

RGD

PMID:18194448 PMID:19734590

RGD:8547896, RGD:8549736

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442

G

myosin heavy chain 6

ISO

CTD Direct Evidence: marker/mechanism

PMID:30061737 PMID:34515533

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

myosin heavy chain 7

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation

PMID:25741868 PMID:28492532 PMID:29892015 PMID:30061737

NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194

G

myosin XVIIIb

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:49,421,062...49,614,127
Ensembl chr12:49,407,451...49,614,126

G

myosin 1C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,996,642...61,019,022
Ensembl chr10:60,996,638...61,019,022

G

myocardin

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:50,332,356...50,426,819
Ensembl chr10:50,332,356...50,426,819

G

myotilin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:36,956,119...36,975,728
Ensembl chr18:36,956,191...36,976,265

G

myozenin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:3,693,576...3,700,831
Ensembl chr15:3,693,613...3,700,826

G

myopalladin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,435,554...25,521,149
Ensembl chr20:25,435,554...25,521,149

G

nascent polypeptide associated complex subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:1,053,474...1,066,606
Ensembl chr 7:1,054,338...1,066,605

G

neuron navigator 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:107,799,968...108,458,546
Ensembl chr 1:107,805,096...108,458,546

G

nebulette

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:85,022,953...85,374,848
Ensembl chr17:85,022,963...85,374,172

G

neuralized E3 ubiquitin protein ligase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:256,008,160...256,094,224

G

NK2 homeobox 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452

G

nitric oxide synthase 3

ISO

CTD Direct Evidence: therapeutic

NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664

G

natriuretic peptide B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310

G

nuclear receptor subfamily 3, group C, member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843

G

nuclear casein kinase and cyclin-dependent kinase substrate 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:45,897,275...45,926,491
Ensembl chr13:45,897,248...45,923,101

G

opsin 1, short wave sensitive

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,942,685...58,945,825
Ensembl chr 4:58,942,681...58,945,825

G

purinergic receptor P2X 7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,550,531...39,594,984
Ensembl chr12:39,540,567...39,595,193

G

p21 (RAC1) activated kinase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,212,896...82,273,803
Ensembl chr11:82,212,951...82,273,803

G

pleckstrin homology-like domain, family A, member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:48,853,690...48,855,894
Ensembl chr 7:48,853,260...48,857,542

G

pleckstrin homology-like domain, family B, member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,859,173...55,078,212
Ensembl chr11:68,355,959...68,540,734

G

paired-like homeodomain 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591

G

plakophilin 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916

G

phospholamban

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:33,166,512...33,182,241
Ensembl chr20:33,172,494...33,182,241

G

pro-platelet basic protein

ISO

protein:increased expression:plasma
protein:increased expression:plasma:

RGD

PMID:2946878 PMID:37294500

RGD:329901822, RGD:401794955

NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299

G

PTPRF interacting protein alpha 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr13:48,305,844...48,354,329
Ensembl chr13:48,305,848...48,354,279

G

protein phosphatase 2, regulatory subunit B'', alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:110,582,479...110,720,516
Ensembl chr 8:110,583,743...110,677,482

G

paired related homeobox 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058

G

proteasome 20S subunit beta 7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:42,767,500...42,827,470
Ensembl chr 3:42,767,501...42,827,601

G

parathyroid hormone

ISO

protein:increased expression:serum (human)

RGD

NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034

G

protein tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:107,015,733...107,172,091

G

RNA binding motif protein 20

ISO
ISS

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364

G

receptor accessory protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,303,974...105,420,611
Ensembl chr 4:105,303,969...105,420,602

G

receptor accessory protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,492,721...21,577,521

G

renin

ISO

associated with Rheumatic Heart Disease; protein:increased activity:plasma (human)

RGD

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543

G

roundabout guidance receptor 1

ISO

associated with heart valve disease;protein:increased expression:right atrial myocardium

RGD

NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694

G

ribosomal protein L3-like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,753,914...13,764,458
Ensembl chr10:14,258,418...14,268,988

G

ribosomal protein S2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:14,251,841...14,253,697
Ensembl chr10:14,251,380...14,253,695

G

Scm polycomb group protein homolog 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:139,314,447...139,403,081

G

sodium voltage-gated channel alpha subunit 10

ISO

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298

G

sodium voltage-gated channel alpha subunit 5

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation

PMID:9536098 PMID:10807545 PMID:11901046 PMID:14967853 PMID:15176425 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

selectin E

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903

G

sarcoglycan, alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,397,158...80,416,165
Ensembl chr10:80,405,566...80,419,616

G

SH3 and PX domains 2A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:256,094,991...256,301,120
Ensembl chr 1:256,094,991...256,300,967

G

sirtuin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000

G

solute carrier family 27 member 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,040,241...52,099,622
Ensembl chr18:54,238,729...54,312,632

G

solute carrier family 35, member F1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,573,428...32,961,465

G

solute carrier family 9 member B1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:226,442,892...226,491,941

G

slit guidance ligand 2

ISO

associated with heart valve disease;protein:increased expression:right atrial myocardium

RGD

NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146

G

slit guidance ligand 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:19,571,798...20,156,634
Ensembl chr10:20,076,021...20,660,704

G

SMAD family member 7

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:71,263,508...71,291,849
Ensembl chr18:71,263,508...71,291,849

G

small nuclear ribonucleoprotein U4/U6.U5 subunit 27

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:120,681,054...120,691,343
Ensembl chr 4:120,679,255...120,690,656

G

syntrophin, alpha 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation

PMID:18591664 PMID:22378279 PMID:25741868 PMID:27028743 PMID:28492532 More...

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927

G

superoxide dismutase 1

ISO

associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human)

RGD

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399

G

sortilin related receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:51,238,722...51,401,446

G

SRY-box transcription factor 15

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,871,793...54,873,497
Ensembl chr10:54,871,788...54,873,497

G

SRY-box transcription factor 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:178,512,272...179,467,686
Ensembl chr 4:178,512,272...178,938,495

G

spermatogenesis associated, serine-rich 2-like

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:66,814,228...66,988,578

G

sarcospan

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:180,620,762...180,666,893
Ensembl chr 4:180,627,848...180,662,284

G

Sad1 and UNC84 domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,510,230...20,555,123
Ensembl chr12:20,490,861...20,555,240

G

spectrin repeat containing nuclear envelope protein 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015

NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723

G

synaptopodin 2-like

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:3,631,974...3,641,429
Ensembl chr15:3,681,104...3,690,673

G

T-box transcription factor 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359

G

tissue factor pathway inhibitor

IEP

mRNA,protein:decreased expression:endocardium:

RGD

NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:89,939,868...89,980,742

G

transforming growth factor, beta 1

ISO

associated with heart valve disease;protein:increased expression:right atrial myocardium

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899

G

thyroid hormone receptor beta

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:10,115,954...10,465,231
Ensembl chr15:10,115,954...10,313,680

G

toll-like receptor 2

ISO

protein:increased expression:monocyte:

RGD

NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194

G

tumor necrosis factor

ISO

associated with Heart Valve Diseases;protein:increased expression:right atrium:

RGD

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303

G

TNF superfamily member 12

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,902,616...54,911,913

G

titin

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation

PMID:9536098 PMID:17344846 PMID:17576681 PMID:20890277 PMID:23396983 More...

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

tubulin, alpha 8

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:156,111,964...156,141,436

G

ubiquitination factor E4B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:165,049,897...165,153,572
Ensembl chr 5:165,049,897...165,153,572

G

ubiquitin specific peptidase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,973,278...76,049,151
Ensembl chr 8:75,974,615...76,049,153

G

ubiquitin specific peptidase 34

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:97,285,799...97,476,376
Ensembl chr14:101,487,153...101,678,632

G

uronyl-2-sulfotransferase

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:4,487,316...4,782,579
Ensembl chr 1:4,489,925...4,782,356

G

vascular endothelial growth factor A

ISO

mRNA,protein:increased expression:heart:

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194

G

von Willebrand factor

treatment

ISO

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17890461 PMID:21497043

NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757

G

WD repeat domain 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:72,258,032...72,291,768
Ensembl chr14:76,470,176...76,504,080

G

WAS/WASL interacting protein family, member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277

G

Wnt family member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,180,224...89,224,195
Ensembl chr10:89,216,801...89,224,195

G

Wnt family member 8A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,411,833...26,417,426

G

exportin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:101,434,450...101,476,705
Ensembl chr14:101,434,517...101,476,714

G

exportin 7

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:45,742,053...45,828,050
Ensembl chr15:52,151,743...52,237,729

G

xyloside xylosyltransferase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:69,658,481...69,790,938
Ensembl chr11:83,163,189...83,295,988

G

zinc finger homeobox 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:19597491 PMID:19597492 PMID:22544366 PMID:29892015 PMID:30061737

NCBI chr19:36,257,196...36,886,104
Ensembl chr19:53,551,488...53,795,664

G

zinc finger protein 462

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020

G

zona pellucida binding protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,558,772...83,567,511
Ensembl chr10:84,055,244...84,063,774

atrial heart septal defect 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit e1

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,984,084...17,007,156
Ensembl chr10:16,984,084...17,028,858

G

BCL2 interacting protein 1

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,891,317...16,903,561
Ensembl chr10:16,891,317...16,903,561

G

CREB3 regulatory factor

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,903,607...16,967,450
Ensembl chr10:16,903,547...16,966,430

G

dual specificity phosphatase 1

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:17,184,853...17,187,646
Ensembl chr10:17,184,823...17,187,644

G

endoplasmic reticulum-golgi intermediate compartment 1

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:17,035,615...17,131,411
Ensembl chr10:17,035,615...17,131,376

G

neuralized E3 ubiquitin protein ligase 1B

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,754,002...16,785,049
Ensembl chr10:17,258,328...17,289,362

G

NK2 homeobox 5

ISO
ISS

ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
OMIM:108900

OMIM
ClinVar
MouseDO

PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More...

NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452

G

ribosomal protein L26 like 1

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,520,383...16,524,604

G

SH3 and PX domains 2B

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,918,611...17,027,499
Ensembl chr10:17,422,947...17,512,854

G

stanniocalcin 2

ISO

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532

NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,755,267...16,767,447

atrial standstill 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 5

ISO

ClinVar Annotator: match by term: Atrial standstill 1 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9588401 PMID:16790700 PMID:20650941 PMID:20818502 PMID:21921585 More...

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512

G

natriuretic peptide A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Atrial standstill 1, digenic

PMID:3953067 PMID:12522116 PMID:15466643 PMID:15671429 PMID:15998690 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

atrial standstill 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natriuretic peptide A

ISO

ClinVar Annotator: match by term: Atrial standstill 2 | ClinVar Annotator: match by term: NPPA-related condition

PMID:6225642 PMID:19646991 PMID:22818067 PMID:23275345 PMID:23838598 More...

NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493

atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha i2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622

G

lamin A/C

ISO

DNA:missense mutation:cds:p.G613A (human)
ClinVar Annotator: match by term: AV block
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:10580070 PMID:17377071 PMID:23183350 PMID:24033266 PMID:25741868 More...

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: AV Block Third Degree Adverse Event

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

NK2 homeobox 5

ISO

DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human)

RGD

NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: AV block

PMID:11804990 PMID:15671429 PMID:18048769 PMID:19056759 PMID:22581653 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

transient receptor potential cation channel, subfamily M, member 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:32681584 PMID:33959666

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

Brugada syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

G

acetyl-CoA acyltransferase 1A

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,956,126...127,966,348
Ensembl chr 8:127,956,129...127,966,241

G

activin A receptor type 2B

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:128,016,589...128,056,193
Ensembl chr 8:128,016,526...128,048,171

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:25741868 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

ankyrin 2

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:17161064 PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

ankyrin repeat domain 1

ISO

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 1:243,228,460...243,237,014
Ensembl chr 1:243,228,448...243,263,751

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22385640 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817017 PMID:21383000 More...

NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147

G

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)

PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More...

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564

G

collagen type V alpha 1 chain

ISO

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020

G

CTD small phosphatase like

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,520,478...127,644,999
Ensembl chr 8:127,520,499...127,644,999

G

DLEC1 cilia and flagella associated protein

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,704,181...127,750,929
Ensembl chr 8:127,704,232...127,750,931

G

dystrophin

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385

NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835

G

desmoplakin

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More...

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

exo/endonuclease G

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:128,062,688...128,082,529
Ensembl chr 8:128,059,126...128,083,460

G

glycerol-3-phosphate dehydrogenase 1 like

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908

G

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)

PMID:25637381 PMID:25741868 PMID:28341588 PMID:28492532

NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495

G

hes-related family bHLH transcription factor with YRPW motif 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:28,641,057...28,651,187

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

integrin subunit alpha 9

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,185,244...127,493,296
Ensembl chr 8:127,169,226...127,493,296

G

potassium voltage-gated channel subfamily D member 3

ISO

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690

G

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)

PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More...

NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162

G

potassium voltage-gated channel subfamily E regulatory subunit 5

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:18313602 PMID:24144883 PMID:25741868 PMID:28492532 PMID:30847666 More...

NCBI chr X:105,930,398...105,931,013
Ensembl chr X:110,726,282...110,728,047

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

G

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)

PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More...

NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

laminin subunit alpha 4

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532 PMID:28986455

NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972

G

microRNA 26a-1

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,633,048...127,633,137
Ensembl chr 8:127,633,048...127,633,137

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

myosin binding protein H-like

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28778945 PMID:35533732

NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:198,693,101...198,705,738

G

MYD88, innate immune signal transduction adaptor

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More...

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

oxidative stress responsive kinase 1

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:127,850,484...127,939,750

G

plakophilin 2

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More...

NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916

G

phospholipase C, delta 1

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:127,672,980...127,695,939

G

ryanodine receptor 2

ISO

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

sodium voltage-gated channel alpha subunit 10

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome

PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12097481 More...

NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298

G

sodium voltage-gated channel alpha subunit 11

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:128,374,441...128,444,718
Ensembl chr 8:128,374,449...128,444,718

G

sodium voltage-gated channel beta subunit 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome

PMID:22155597 PMID:25741868

NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197

G

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)

PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More...

NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018

G

sodium voltage-gated channel alpha subunit 5

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome

PMID:235469 PMID:235504 PMID:256650 PMID:291807 PMID:461398 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

solute carrier family 22 member 13

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,800,097...127,811,750
Ensembl chr 8:127,800,097...127,811,724

G

solute carrier family 22, member 14

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,894,537...118,916,416
Ensembl chr 8:127,772,275...127,785,993

G

sarcolemma associated protein

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More...

NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,673,964...1,791,902

G

syntrophin, alpha 1

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:26220970 PMID:28492532

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176

NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350

G

titin-cap

ISO

ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More...

NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483

G

transforming growth factor, beta 3

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

titin

ISO

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More...

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

transthyretin

ISO

ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More...

NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969

G

villin-like

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,654,491...127,672,742
Ensembl chr 8:127,654,595...127,672,753

G

xylulokinase

ISO

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:127,971,194...128,012,511
Ensembl chr 8:127,966,100...128,006,571

Brugada syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ISO

ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 More...

NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147

G

desmoplakin

ISO

ClinVar Annotator: match by term: Brugada syndrome 1

PMID:25351510 PMID:25741868 PMID:28492532 PMID:31568572 PMID:31983221

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

fibrillin 1

ISO

ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:19012347 PMID:19159394 PMID:25741868 PMID:27611364 PMID:28973303

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283

G

potassium voltage-gated channel subfamily A member 5

ISO

ClinVar Annotator: match by term: Brugada syndrome 1

PMID:15735608 PMID:16411137 PMID:21306642 PMID:23264583 PMID:23861362 More...

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:19716085 PMID:22581653 PMID:23861362 PMID:25417810 PMID:25637381 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 16

ISO

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr10:95,990,009...96,021,356
Ensembl chr10:96,460,331...96,566,075

G

potassium inwardly-rectifying channel, subfamily J, member 8

ISO

ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:25741868 PMID:28492532

NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531

G

sodium voltage-gated channel alpha subunit 10

ISO

ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

PMID:24998131 PMID:25053638 PMID:25650408 PMID:25691538 PMID:25691686 More...

NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298

G

sodium voltage-gated channel alpha subunit 5

ISS
ISO

OMIM:601144
ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

MouseDO
ClinVar
OMIM

PMID:1309946 PMID:1452303 PMID:2107088 PMID:2247482 PMID:3871168 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

sodium channel epithelial 1 subunit alpha

ISO

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405

Brugada syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycerol-3-phosphate dehydrogenase 1 like

ISO

ClinVar Annotator: match by term: Brugada syndrome 2 | ClinVar Annotator: match by term: GPD1L-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908

Brugada syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Brugada syndrome 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

Brugada syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel auxiliary subunit beta 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More...

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564

Brugada syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkB homolog 6

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,690,979...94,696,429
Ensembl chr 1:94,691,822...94,696,427

G

amyloid beta precursor like protein 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,824,330...94,834,705
Ensembl chr 1:94,824,072...94,834,610

G

Rho GTPase activating protein 33

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,903,566...94,917,074
Ensembl chr 1:94,902,922...94,917,684

G

ATPase H+/K+ transporting subunit alpha

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,089,122...95,102,277
Ensembl chr 1:95,089,122...95,102,277

G

calpain, small subunit 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:94,572,083...94,583,368

G

CD22 molecule

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,243,785...95,270,430
Ensembl chr 1:95,244,868...95,259,730

G

CAP-GLY domain containing linker protein 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:94,674,661...94,690,642

G

cytochrome c oxidase subunit 6B1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431

G

cytochrome c oxidase subunit 7A1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,549,663...94,572,330
Ensembl chr 1:94,569,216...94,570,889

G

dermokine

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:95,141,620...95,157,439

G

ETS variant transcription factor 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:95,017,687...95,021,457

G

family with sequence similarity 187, member B

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:95,332,631...95,371,536

G

free fatty acid receptor 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:95,238,785...95,239,691

G

free fatty acid receptor 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,199,277...95,202,599
Ensembl chr 1:95,199,271...95,202,623

G

free fatty acid receptor 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:95,232,336...95,234,354

G

FXYD domain-containing ion transport regulator 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,414,556...95,418,645
Ensembl chr 1:95,414,557...95,418,591

G

FXYD domain-containing ion transport regulator 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,432,918...95,440,129
Ensembl chr 1:95,432,919...95,439,702

G

FXYD domain-containing ion transport regulator 5

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,395,327...95,404,722
Ensembl chr 1:95,395,146...95,405,364

G

FXYD domain-containing ion transport regulator 7

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:95,405,225...95,414,345

G

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:95,106,518...95,121,055

G

hepcidin antimicrobial peptide

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:95,298,307...95,300,297

G

HAUS augmin-like complex, subunit 5

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:95,039,800...95,050,778

G

hematopoietic cell signal transducer

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,804,429...94,806,661
Ensembl chr 1:94,804,430...94,806,641

G

hepsin

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,464,468...95,480,169
Ensembl chr 1:95,464,470...95,480,199

G

heat shock protein family B (small) member 6

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:94,933,543...94,936,512

G

IGF-like family receptor 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:94,945,967...94,948,473

G

kirre like nephrin family adhesion molecule 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:94,836,243...94,846,119

G

lysine methyltransferase 2B

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,949,144...94,969,239
Ensembl chr 1:94,949,144...94,968,441

G

keratinocyte differentiation associated protein

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:95,165,862...95,169,012

G

leucine-rich repeat LGI family, member 4

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:95,414,058...95,433,289

G

lin-37 DREAM MuvB core complex component

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:94,936,512...94,940,444

G

leucine rich repeat and fibronectin type III domain containing 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,744,315...94,751,001
Ensembl chr 1:94,744,321...94,751,178

G

lipolysis stimulated lipoprotein receptor

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,313,830...95,329,471
Ensembl chr 1:95,313,033...95,329,354

G

myelin-associated glycoprotein

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:95,275,728...95,291,133
Ensembl chr 1:95,275,635...95,291,060

G

NFKB inhibitor delta

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:94,808,453...94,817,861

G

ovo-like zinc finger 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:94,612,417...94,616,053

G

RNA polymerase II subunit I

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,610,976...94,612,413
Ensembl chr 1:94,610,942...94,613,000

G

proline dehydrogenase 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:94,881,061...94,894,609

G

proline and serine rich 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,920,802...94,934,126
Ensembl chr 1:94,920,817...94,933,296

G

presenilin enhancer gamma secretase subunit

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,942,348...94,943,545
Ensembl chr 1:94,942,225...94,943,752

G

RNA binding motif protein 42

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:95,026,050...95,035,980

G

suprabasin

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:95,120,927...95,134,220

G

sodium voltage-gated channel beta subunit 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 PMID:9894880 More...

NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197

G

succinate dehydrogenase complex assembly factor 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,703,662...94,704,611
Ensembl chr 1:94,702,409...94,706,092

G

spectrin repeat containing nuclear envelope family member 4

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:94,696,609...94,701,230

G

tubulin folding cofactor B

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:94,605,101...94,610,949

G

THAP domain containing 8

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

G

transmembrane protein 147

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:95,104,452...95,106,283

G

transmembrane immune signaling adaptor Tyrobp

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299

G

U2 small nuclear RNA auxiliary factor 1-like 4

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,943,684...94,945,906
Ensembl chr 1:94,942,544...94,946,391

G

uroplakin 1A

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:94,987,108...94,997,787

G

upstream transcription factor 2, c-fos interacting

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:95,302,105...95,313,119

G

WD repeat domain 62

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:94,618,992...94,658,097
Ensembl chr 1:94,618,992...94,658,223

G

zinc finger and BTB domain containing 32

ISO

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:94,969,374...94,971,679

Brugada syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily E regulatory subunit 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar Annotator: match by term: KCNE3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More...

NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162

G

lipoyl(octanoyl) transferase 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 6

PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More...

NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:163,916,695...163,919,022

Brugada syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 3

ISO
ISS

ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 | ClinVar Annotator: match by term: SCN3B-related condition
OMIM:613120
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20031595 PMID:20042427 More...

NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018

Brugada syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP-dependent glucokinase

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:68,595,194...68,623,179
Ensembl chr 8:68,595,248...68,623,178

G

AT-rich interaction domain 3B

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,089,141...67,136,764
Ensembl chr 8:67,083,802...67,152,245

G

ariadne RBR E3 ubiquitin protein ligase 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:68,673,199...68,775,648
Ensembl chr 8:68,673,200...68,775,572

G

Bardet-Biedl syndrome 4

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358

G

coiled-coil domain containing 33

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,331,519...67,430,194
Ensembl chr 8:67,331,519...67,413,485

G

Cd276 molecule

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:67,829,048...67,864,505

G

CDC-like kinase 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,048,121...67,063,192
Ensembl chr 8:67,048,123...67,062,881

G

complexin 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,899,438...66,906,200
Ensembl chr 8:66,899,438...66,906,200

G

C-terminal Src kinase

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:66,925,651...66,930,274

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196

G

cytochrome P450, family 1, subfamily a, polypeptide 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012

G

cytochrome P450, family 1, subfamily a, polypeptide 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:66,971,261...66,978,149

G

enhancer of mRNA decapping 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,002,032...67,047,563
Ensembl chr 8:67,002,014...67,047,559

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome 8

CTD
ClinVar
OMIM

PMID:9536098 PMID:12750403 PMID:15123648 PMID:16199547 PMID:17576681 More...

NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495

G

hexosaminidase subunit alpha

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:68,832,524...68,857,462
Ensembl chr 8:68,809,615...68,859,560

G

inhibitory synaptic factor 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,799,989...67,810,685
Ensembl chr 8:67,799,304...67,814,536

G

immunoglobulin superfamily containing leucine-rich repeat

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,467,013...67,469,989
Ensembl chr 8:67,444,536...67,487,493

G

immunoglobulin superfamily containing leucine-rich repeat 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,504,042...67,512,125
Ensembl chr 8:67,504,037...67,513,708

G

lectin, mannose-binding, 1 like

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,906,684...66,925,512
Ensembl chr 8:66,906,624...66,919,584

G

lysyl oxidase-like 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224

G

mannose phosphate isomerase

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,843,802...66,852,108
Ensembl chr 8:66,844,116...66,852,016

G

neogenin 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152

G

neuroplastin

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,892,678...67,959,231
Ensembl chr 8:67,892,702...67,959,236

G

PML nuclear body scaffold

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083

G

REC114 meiotic recombination protein

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,959,181...68,117,296
Ensembl chr 8:67,958,421...68,119,234

G

secretory carrier membrane protein 2

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,861,504...66,888,151
Ensembl chr 8:66,861,537...66,888,150

G

semaphorin 7A (John Milton Hagen blood group)

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,244,318...67,267,060
Ensembl chr 8:67,243,824...67,267,058

G

stomatin like 1

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,557,846...67,565,734
Ensembl chr 8:67,557,847...67,565,730

G

signaling receptor and transporter of retinol STRA6

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720

G

TBC1 domain family, member 21

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,657,409...67,669,558
Ensembl chr 8:67,657,410...67,669,558

G

transmembrane protein 202

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:68,806,632...68,812,417

G

ubiquitin-like 7

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:67,217,151...67,236,224
Ensembl chr 8:67,216,527...67,236,224

G

unc-51 like kinase 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:66,888,820...66,895,380
Ensembl chr 8:66,888,788...66,895,379

Brugada syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily D member 3

ISO

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:15563876 PMID:21349352 PMID:21703448 PMID:22284586 PMID:22457051 More...

NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690

G

laminin subunit alpha 4

ISO

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:25741868 PMID:28492532

NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972

Cardiac Conduction Defect

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:28492532

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

G

ankyrin 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:12571597 PMID:15178757 PMID:18832177 PMID:22581653 PMID:23396983 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

calsequestrin 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27114410 PMID:28492532

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

dystrophin

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:28492532

NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835

G

desmoglein 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:21606396 PMID:25741868 PMID:28492532 PMID:29517769 PMID:30847666

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590

G

filamin C

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27908349 PMID:28492532

NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240

G

junction plakoglobin

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27532257 PMID:28492532 PMID:30847666

NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,800,814...85,827,429

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:17088455 PMID:19322600 PMID:19841300 PMID:21410720 PMID:22581653 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

myosin heavy chain 7

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:28492532

NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194

G

NK2 homeobox 5

ISO

RGD

NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,848,582...16,851,452

G

plakophilin 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:17010805 PMID:20400443 PMID:23183494 PMID:23396983 PMID:23861362 More...

NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916

G

RNA binding motif protein 20

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364

G

ryanodine receptor 2

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:23861362 PMID:24033266 PMID:25741868 PMID:28404607 PMID:28492532 More...

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:10508990 PMID:10961955 PMID:10973849 PMID:17210839 PMID:17210841 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:28492532

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

titin

ISO

ClinVar Annotator: match by term: cardiac conduction defect

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

transthyretin

ISO

ClinVar Annotator: match by term: cardiac conduction defect

PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More...

NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969

Cardiac Conduction Defect, Nonspecific

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific

PMID:25741868 PMID:28491533 PMID:28492532

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific

PMID:1452303 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

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

lamin A/C

ISO

DNA:missense mutations:cds:multiple (human)

RGD

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072

G

leucine rich repeat containing 53

ISO

ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition

PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974

NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:246,441,076...246,462,854

G

TNNI3 interacting kinase

ISO

ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition

PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More...

NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:246,396,891...246,664,954

catecholaminergic polymorphic ventricular tachycardia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

ankyrin 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:25260352 PMID:25633834 PMID:25741868 PMID:28492532 PMID:30847666

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

G

calmodulin 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 More...

NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381

G

calsequestrin 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More...

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

desmoglein 2

ISO

ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More...

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590

G

FKBP prolyl isomerase 1B

ISS

NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:33,558,517...33,568,129

G

kelch-like family member 8

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr14:5,807,795...5,853,325
Ensembl chr14:6,112,490...6,157,966

G

metallothionein 2, pseudogene 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr20:3,163,749...3,164,121

G

5-methyltetrahydrofolate-homocysteine methyltransferase

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:24510615 PMID:25741868 PMID:28492532 PMID:29255176 PMID:37652022

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

ryanodine receptor 2

ISO

ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

PMID:285698 PMID:1817325 PMID:2623051 PMID:9536098 PMID:11078270 More...

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

trans-2,3-enoyl-CoA reductase-like

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr14:24,732,241...24,805,272
Ensembl chr14:25,086,930...25,159,957

G

triadin

ISO

DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19403623 PMID:19763152 More...

NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717

G

titin

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

VANGL planar cell polarity protein 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186

catecholaminergic polymorphic ventricular tachycardia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552

G

ankyrin 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

ATPase Na+/K+ transporting subunit alpha 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:191,709,311...191,737,425

G

calmodulin 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 More...

NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381

G

calsequestrin 2

ISO

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More...

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

DM1 protein kinase

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 1:87,858,294...87,868,624
Ensembl chr 1:87,858,316...87,868,910

G

desmoglein 2

ISO

ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1

PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More...

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:12,121,181...12,179,590

G

desmoplakin

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:28492532 PMID:33552729

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

laminin subunit alpha 4

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972

G

lamin A/C

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 More...

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072

G

mab-21 like 3

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:191,937,451...191,960,204

G

metallothionein 2, pseudogene 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr20:3,163,749...3,164,121

G

5-methyltetrahydrofolate-homocysteine methyltransferase

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

nescient helix loop helix 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:192,132,686...192,138,186

G

ryanodine receptor 2

ISO
ISS

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
OMIM:604772
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

OMIM
ClinVar
MouseDO

PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 More...

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1

PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

solute carrier family 22, member 15

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 2:189,298,836...189,359,902
Ensembl chr 2:191,987,409...192,047,362

G

TNNI3 interacting kinase

ISO

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2

NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:246,396,891...246,664,954

G

tropomyosin 1

ISO

ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:76,511,871...76,543,468

G

triadin

ISO

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1

PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 More...

NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

VANGL planar cell polarity protein 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186

catecholaminergic polymorphic ventricular tachycardia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calsequestrin 2

ISO
ISS

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 2
OMIM:611938

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 More...

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

ryanodine receptor 2

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

VANGL planar cell polarity protein 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2

PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532

NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:192,280,422...192,326,186

catecholaminergic polymorphic ventricular tachycardia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trans-2,3-enoyl-CoA reductase-like

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition

PMID:17666061 PMID:25741868 PMID:27861123 PMID:30790670 PMID:31737537 More...

NCBI chr14:24,732,241...24,805,272
Ensembl chr14:25,086,930...25,159,957

catecholaminergic polymorphic ventricular tachycardia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 1

ISO

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4

PMID:9536098 PMID:11569915 PMID:17576681 PMID:23040497 PMID:23388215 More...

NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381

catecholaminergic polymorphic ventricular tachycardia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

triadin

ISO

ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: TRDN-related condition | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:22422768 More...

NCBI chr 1:25,774,765...26,230,069
Ensembl chr 1:25,774,765...26,229,717

familial atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

G

GATA binding protein 5

ISO

DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human)

RGD

NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:187,796,142...187,804,327

G

gap junction protein, alpha 5

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:12522116 PMID:25741868 PMID:28492532

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512

G

potassium voltage-gated channel subfamily A member 5

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:9536098 PMID:17470695 PMID:17576681 PMID:19716085 PMID:19841300 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

laminin subunit alpha 4

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972

G

myosin, light chain 4

ISO

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:27066836 PMID:28492532 PMID:29080865

NCBI chr10:89,949,733...89,985,308
Ensembl chr10:89,949,404...89,985,308

G

NK2 homeobox 6

susceptibility

ISO

DNA:missense mutation:CDS:p.Q175H (human)

RGD

NCBI chr15:50,852,965...50,857,060
Ensembl chr15:50,852,646...50,857,059

Familial Atrial Fibrillation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain 2

ISO

ClinVar Annotator: match by term: ATFB1

PMID:25741868 PMID:28492532

NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591

Familial Atrial Fibrillation 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 10

PMID:1309946 PMID:1452303 PMID:3953067 PMID:8661019 PMID:9716085 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

Familial Atrial Fibrillation 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 5

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 11

PMID:9588401 PMID:16790700 PMID:20818502 PMID:23348765 PMID:24060583 More...

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512

Familial Atrial Fibrillation 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 12

PMID:9536098 PMID:15034580 PMID:17245405 PMID:17576681 PMID:23861362 More...

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

Familial Atrial Fibrillation 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 13

PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More...

NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:95,481,298...95,491,197

Familial Atrial Fibrillation 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:53,508,005...53,523,571

G

archain 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:53,954,404...53,979,005

G

ATP synthase membrane subunit G

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,122,457...54,130,407
Ensembl chr 8:54,122,457...54,132,831

G

BCL9 like

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:53,708,770...53,737,395

G

C2CD2-like

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,544,887...53,557,127
Ensembl chr 8:53,544,892...53,555,153

G

Cbl proto-oncogene

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067

G

CD3 delta subunit of T-cell receptor complex

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,184,573...54,190,112
Ensembl chr 8:54,175,155...54,196,722

G

CD3 epsilon subunit of T-cell receptor complex

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:54,200,617...54,211,876

G

CD3 gamma subunit of T-cell receptor complex

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:54,177,977...54,183,918

G

centrosomal AT-AC splicing factor

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,632,777...53,639,661
Ensembl chr 8:53,632,044...53,639,650

G

C-X-C motif chemokine receptor 5

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,738,878...53,756,813
Ensembl chr 8:53,740,197...53,754,816

G

DEAD-box helicase 6

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:53,827,835...53,860,977

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,560,869...53,567,625
Ensembl chr 8:53,555,239...53,567,898

G

dynein regulatory complex subunit 12 homolog

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:53,472,849...53,486,567

G

forkhead box R1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:53,657,256...53,669,629

G

H2A.X variant histone

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:53,568,281...53,573,079

G

histone H4 transcription factor

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,525,576...53,541,101
Ensembl chr 8:53,527,236...53,540,555

G

hydroxymethylbilane synthase

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:53,570,364...53,577,802

G

hypoxia up-regulated 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:53,602,604...53,614,997

G

intraflagellar transport 46

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:53,984,242...54,000,836

G

junction adhesion molecule like

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:54,281,644...54,313,500

G

lysine methyltransferase 2A

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:54,013,547...54,089,317

G

myelin protein zero-like 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:54,243,556...54,256,074

G

myelin protein zero-like 3

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:54,257,226...54,279,665

G

NHERF family PDZ scaffold protein 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:53,481,012...53,485,661

G

NLR family member X1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,486,866...53,503,498
Ensembl chr 8:53,486,867...53,503,523

G

pleckstrin homology-like domain, family B, member 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,900,338...53,948,325
Ensembl chr 8:53,900,338...53,949,518

G

ribosomal protein s25

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,630,333...53,632,810
Ensembl chr 8:53,629,861...53,632,808
Ensembl chr 8:53,629,861...53,632,808

G

sodium voltage-gated channel beta subunit 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 | ClinVar Annotator: match by term: SCN2B-related condition

PMID:9536098 PMID:16199547 PMID:17556197 PMID:17576681 PMID:17623065 More...

NCBI chr 8:54,322,383...54,334,519
Ensembl chr 8:54,322,383...54,334,519

G

sodium voltage-gated channel beta subunit 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047

G

solute carrier family 37 member 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:53,619,952...53,626,110
Ensembl chr 8:53,620,141...53,626,110

G

transmembrane protein 25

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:54,003,907...54,009,325

G

trafficking protein particle complex subunit 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:53,625,474...53,630,241

G

trehalase

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:53,886,946...53,900,335

G

tetratricopeptide repeat domain 36

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,112,737...45,116,345
Ensembl chr 8:54,009,522...54,013,129

G

ubiquitination factor E4A

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:54,132,801...54,174,835

G

uroplakin 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:53,675,994...53,677,986

G

VPS11 core subunit of CORVET and HOPS complexes

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 14

NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:53,580,939...53,595,377

Familial Atrial Fibrillation 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 155

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 | ClinVar Annotator: match by term: NUP155-related condition

PMID:15596564 PMID:19070573 PMID:25741868 PMID:28492532

NCBI chr 2:58,927,171...58,980,162
Ensembl chr 2:58,928,537...58,981,242

Familial Atrial Fibrillation 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 17

NCBI chr 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047

Familial Atrial Fibrillation 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin, light chain 4

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 | ClinVar Annotator: match by term: MYL4-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25807286 More...

NCBI chr10:89,949,733...89,985,308
Ensembl chr10:89,949,404...89,985,308

Familial Atrial Fibrillation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 3

CTD
ClinVar
OMIM

PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 PMID:2383558 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

Familial Atrial Fibrillation 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 | ClinVar Annotator: match by term: KCNE2-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10219239 PMID:10973849 PMID:10984545 PMID:11034315 PMID:11101505 More...

NCBI chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168

Familial Atrial Fibrillation 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 2510039O18 gene like

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:163,655,106...163,661,660

G

angiotensin II receptor-associated protein

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,790,565...163,802,174
Ensembl chr 5:163,791,887...163,802,174

G

angiopoietin like 7

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,215,223...164,220,408
Ensembl chr 5:164,215,223...164,220,584

G

similar to human chromosome 1 open reading frame 167

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:158,495,514...158,505,671

G

castor zinc finger 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,527,083...164,677,037
Ensembl chr 5:164,527,112...164,677,014

G

ciliated left-right organizer protein containing ZP-N domains

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:164,358,306...164,388,485

G

chloride voltage-gated channel 6

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:163,717,439...163,748,198

G

dispatched RND transporter family member 3

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:163,955,160...164,003,950

G

dorsal inhibitory axon guidance protein

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,813,308...163,846,609
Ensembl chr 5:163,816,502...163,855,174

G

exosome component 10

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,278,414...164,302,067
Ensembl chr 5:164,278,440...164,302,067

G

F-box protein 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,876,079...163,881,508
Ensembl chr 5:163,875,757...163,881,508

G

F-box protein 44

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,866,517...163,875,928
Ensembl chr 5:163,866,517...163,875,614

G

F-box protein 6

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,859,909...163,865,693
Ensembl chr 5:163,859,916...163,865,574

G

mitotic arrest deficient 2 like 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,846,678...163,859,851
Ensembl chr 5:163,846,687...163,859,851

G

MBL associated serine protease 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,319,017...164,332,686
Ensembl chr 5:164,308,991...164,332,705

G

methylenetetrahydrofolate reductase

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105

G

mechanistic target of rapamycin kinase

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435

G

natriuretic peptide A

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:6225642 PMID:9536098 PMID:15017020 PMID:17460430 PMID:17576681 More...

NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:163,712,184...163,713,493

G

natriuretic peptide B

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310

G

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:163,623,847...163,650,737
Ensembl chr 5:163,623,848...163,651,110

G

spermidine synthase

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,309,002...164,312,203
Ensembl chr 5:164,308,991...164,332,705

G

TAR DNA binding protein

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:164,334,924...164,345,204

G

UbiA prenyltransferase domain containing 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 5:164,139,714...164,167,777
Ensembl chr 5:164,151,802...164,163,400

Familial Atrial Fibrillation 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily A member 1

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 7

PMID:21858020 PMID:28492532

NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044

G

potassium voltage-gated channel subfamily A member 5

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: KCNA5-related condition | ClinVar Annotator: match by term: altered potassium channel function
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15735608 PMID:16025157 PMID:16411137 PMID:16772329 PMID:17266934 More...

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408

Familial Atrial Fibrillation 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger homeobox 3

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial fibrillation, familial, 8

CTD
OMIM
ClinVar

NCBI chr19:36,257,196...36,886,104
Ensembl chr19:53,551,488...53,795,664

Familial Atrial Fibrillation 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Atrial fibrillation, familial, 9

PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More...

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

first-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 7

ISO

ClinVar Annotator: match by term: First degree atrioventricular block

PMID:21127202 PMID:24033266 PMID:24714796 PMID:25163546 PMID:25741868 More...

NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194

long QT syndrome 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 3

ISO

ClinVar Annotator: match by term: CALM3-related condition | ClinVar Annotator: match by term: Long QT syndrome 16

PMID:9536098 PMID:17576681 PMID:23388215 PMID:24563457 PMID:24816216 More...

NCBI chr 1:86,718,761...86,725,869
Ensembl chr 1:86,717,321...86,725,960

Paroxysmal Atrial Fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

ISO

protein:decreased expression:serum:

RGD

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ISO

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532 PMID:35470684 More...

NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:14731347 PMID:19841300 PMID:23098067 PMID:25348405 PMID:25741868 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

MIB E3 ubiquitin protein ligase 1

ISO

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

NCBI chr18:1,802,519...1,926,988
Ensembl chr18:2,075,309...2,193,475

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:12566107 PMID:12818575 PMID:14563344 PMID:15114369 PMID:15115610 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

transcription factor 21

susceptibility

ISO

DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human)

RGD

NCBI chr 1:24,520,499...24,523,358
Ensembl chr 1:24,520,481...24,523,348

Postoperative Atrial Fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cullin-associated and neddylation-dissociated 2 (putative)

ISO

DNA:SNP:intron:rs4642101 (human)

RGD

NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:150,507,657...150,541,293

G

C-reactive protein

no_association

ISO

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514

G

glutathione peroxidase 3

ISO

associated with coronary artery disease;protein:increased expression:plasma

RGD

NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405

G

gelsolin

susceptibility

ISO

DNA:SNP:: (rs2230287) (human)

RGD

NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850

G

interleukin 6

disease_progression

ISO

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610

G

serpin family E member 1

ISO

protein:increased expression:plasma (human)

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357

progressive familial heart block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calsequestrin 2

ISO

ClinVar Annotator: match by term: Progressive familial heart block

PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

desmoplakin

ISO

ClinVar Annotator: match by term: Progressive familial heart block

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Hereditary bundle branch system defect

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Cardiac conduction defect progressive | ClinVar Annotator: match by term: HEREDITARY BUNDLE BRANCH SYSTEM DEFECT | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block

PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:25741868 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

Progressive Familial Heart Block Type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Heart block progressive familial type 1

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

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

PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Heart block progressive familial type 1

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

progressive familial heart block type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Hereditary bundle branch system defect

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

sodium voltage-gated channel alpha subunit 5

ISS
ISO

OMIM:113900
ClinVar Annotator: match by term: HEREDITARY BUNDLE BRANCH SYSTEM DEFECT | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

MouseDO
OMIM
ClinVar

PMID:1309946 PMID:1452303 PMID:2107088 PMID:8661019 PMID:9536098 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

progressive familial heart block type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycogen synthase 1

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

potassium voltage-gated channel subfamily A member 7

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:95,886,073...95,891,565
Ensembl chr 1:105,022,549...105,028,041

G

luteinizing hormone subunit beta

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:105,037,457...105,038,445

G

lin-7 homolog B, crumbs cell polarity complex component

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:104,983,368...104,986,795
Ensembl chr 1:104,982,771...104,986,078

G

neurotrophin 4

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:105,030,035...105,032,866
Ensembl chr 1:105,029,764...105,034,038

G

PTPRF interacting protein alpha 3

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:104,953,598...104,982,373
Ensembl chr 1:104,953,598...104,982,278

G

RuvB-like AAA ATPase 2

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:105,038,487...105,051,851
Ensembl chr 1:105,038,174...105,051,720

G

small nuclear ribonucleoprotein U1 subunit 70

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr 1:104,992,518...105,012,851
Ensembl chr 1:104,992,442...105,012,851

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related disorder
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

short QT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

PMID:20031608 PMID:20817017 PMID:22840528 PMID:23861362 PMID:25447171 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ISO

ClinVar Annotator: match by term: Short QT syndrome

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147

G

calcium voltage-gated channel auxiliary subunit beta 2

ISO

ClinVar Annotator: match by term: Short QT Syndrome 5

PMID:25741868 PMID:28492532

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564

G

potassium voltage-gated channel subfamily H member 2

ISS
ISO

OMIM:609620 | OMIM:609621 | OMIM:609622
ClinVar Annotator: match by term: Short QT syndrome

MouseDO
ClinVar

PMID:11173780 PMID:12925462 PMID:14676148 PMID:15828882 PMID:18692916 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Short QT syndrome

PMID:8078584 PMID:15761194 PMID:17640933 PMID:22308236 PMID:22371365 More...

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Short QT syndrome

PMID:9536098 PMID:11278406 PMID:15051636 PMID:15159330 PMID:17576681 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

vinculin

ISO

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,315,069...3,405,163

Short QT Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: KCNH2-related condition | ClinVar Annotator: match by term: Short QT syndrome type 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2294929 PMID:7889573 PMID:8700910 PMID:9024139 PMID:9536098 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

Short QT Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short QT syndrome type 2

CTD
ClinVar
OMIM

PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 PMID:2383558 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

Short QT Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Short QT syndrome type 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More...

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

Short QT Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 member 3

ISO

ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7

PMID:25741868 PMID:28492532 PMID:29167417 PMID:30420954 PMID:31315195 More...

NCBI chr 9:77,036,243...77,053,940
Ensembl chr 9:84,485,085...84,497,738

sick sinus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

ISO

DNA:SNP:promoter:-6G>A (human)

RGD

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944

G

ankyrin 2

susceptibility

ISO

RGD

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

calcium voltage-gated channel subunit alpha1 D

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692

G

coronin 1A

ISO

ClinVar Annotator: match by term: Sinus node disease

NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102

G

hyperpolarization-activated cyclic nucleotide-gated potassium channel 1

ISS

OMIM:163800 | OMIM:608567 | OMIM:614090

NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806

G

potassium inwardly-rectifying channel, subfamily J, member 5

ISO

CTD Direct Evidence: therapeutic

NCBI chr 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101

G

lamin A/C

ISO

ClinVar Annotator: match by term: Sick sinus syndrome

PMID:25741868 PMID:27182706 PMID:29947763 PMID:31847799 PMID:34831398

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072

G

myosin heavy chain 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

proopiomelanocortin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173

G

sodium voltage-gated channel alpha subunit 5

ISS
ISO

OMIM:163800 | OMIM:608567 | OMIM:614090
ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease

MouseDO
ClinVar

PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

syntrophin, alpha 1

ISO

ClinVar Annotator: match by term: Sick sinus syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927

Sick Sinus Syndrome 1, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive

ClinVar
OMIM
CTD

PMID:291807 PMID:461398 PMID:1309946 PMID:1452303 PMID:2107088 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

Sick Sinus Syndrome 2, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant

CTD
OMIM
ClinVar

PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More...

NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495

Sick Sinus Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to

PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More...

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

Sick Sinus Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit beta 2

ISO

ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4

PMID:25741868 PMID:28219978 PMID:31698099 PMID:34183358

NCBI chr12:19,159,002...19,164,021
Ensembl chr12:24,795,827...24,800,796

sinoatrial node disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 2

ISS

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

coronin 1A

ISO

ClinVar Annotator: match by term: Sinoatrial node disease

NCBI chr 1:190,726,129...190,731,133
Ensembl chr 1:190,726,130...190,731,102

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Sinoatrial node disease

PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

Sudden Unexpected Nocturnal Death Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28492532

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

ankyrin 2

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:17161064 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 More...

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More...

NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:19,905,764...20,330,147

G

calcium voltage-gated channel auxiliary subunit beta 2

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:20817017 PMID:22090166 PMID:22840528 PMID:23414114 PMID:23861362 More...

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:82,473,129...82,818,564

G

dystrophin

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:37713468 PMID:39588385

NCBI chr X:51,070,098...53,437,845
Ensembl chr X:51,070,273...53,437,835

G

desmoplakin

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:20031617 PMID:20152563 PMID:23861362 PMID:24033266 PMID:25741868 More...

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

glycerol-3-phosphate dehydrogenase 1 like

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:11839626 PMID:15140536 PMID:16199547 PMID:17967976 PMID:17967977 More...

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28341588 PMID:28492532

NCBI chr 8:68,118,062...68,155,482
Ensembl chr 8:68,118,062...68,155,495

G

histidine rich calcium binding protein

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More...

NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:104,949,741...104,954,193

G

potassium voltage-gated channel subfamily E regulatory subunit 3

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:25741881 More...

NCBI chr 1:163,936,035...163,942,998
Ensembl chr 1:163,935,991...163,950,162

G

potassium voltage-gated channel subfamily E regulatory subunit 5

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28492532 PMID:30847666

NCBI chr X:105,930,398...105,931,013
Ensembl chr X:110,726,282...110,728,047

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:11997281 PMID:14661677 PMID:14760488 PMID:15840476 PMID:16043162 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 8

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:19120683 PMID:20558321 PMID:21215473 PMID:21836131 PMID:22056721 More...

NCBI chr 4:177,240,692...177,246,548
Ensembl chr 4:177,239,908...177,246,531

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25351510 PMID:25741868 PMID:27871843 PMID:28492532 PMID:29255176

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21750094 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

myosin heavy chain 6

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28492532 More...

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

plakophilin 2

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:20400443 PMID:20857253 PMID:21378009 PMID:21606390 PMID:21636032 More...

NCBI chr11:98,165,974...98,231,916
Ensembl chr11:98,165,974...98,231,916

G

sodium voltage-gated channel alpha subunit 10

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:12097481 PMID:16199547 PMID:17576681 PMID:23115331 More...

NCBI chr 8:128,228,424...128,340,749
Ensembl chr 8:128,228,424...128,340,298

G

sodium voltage-gated channel beta subunit 3

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:20031595 PMID:21051419 PMID:22284586 PMID:23257389 PMID:23414114 More...

NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:1452303 PMID:2380016 PMID:3953067 PMID:8541846 PMID:8620612 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

sarcolemma associated protein

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,673,964...1,791,902

G

syntrophin, alpha 1

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:26220970 PMID:28492532

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907801 PMID:29970176

NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:20,286,117...20,363,350

G

titin-cap

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:23861362 PMID:24033266 PMID:24037902 PMID:25741868 PMID:26332198 More...

NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:619595 PMID:9536098 PMID:17576681 PMID:20562447 PMID:21887725 More...

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

titin

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:17344846 PMID:21270786 PMID:23396983 PMID:23861362 PMID:24033266 More...

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

transthyretin

ISO

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:10439123 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29875424 More...

NCBI chr18:12,216,684...12,225,972
Ensembl chr18:12,216,732...12,225,969

third-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily A member 5

ISO

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408

G

spectrin repeat containing nuclear envelope protein 1

ISO

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 1:43,917,640...44,388,802
Ensembl chr 1:43,895,994...44,388,721

G

tet methylcytosine dioxygenase 2

ISO

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186

G

titin

ISO

ClinVar Annotator: match by term: Third degree atrioventricular block

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More...

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

twinkle mtDNA helicase

ISO

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162

Wolff-Parkinson-White syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 4:177,262,848...177,386,837
Ensembl chr 4:177,262,848...177,386,348

G

actin, alpha, cardiac muscle 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 3:121,266,291...121,271,827
Ensembl chr 3:121,266,291...121,271,827

G

actinin alpha 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552

G

A-kinase anchoring protein 9

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:22584458 PMID:28492532 PMID:32233023

NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338

G

ankyrin 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28191889 PMID:28492532 PMID:32233023

NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259

G

bone morphogenetic protein receptor type 1A

ISS

OMIM:194200

NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,742,875...9,786,861

G

calcium voltage-gated channel subunit alpha1 C

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25633834 PMID:25741868 PMID:28492532 PMID:28600387 PMID:28616568 More...

NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762

G

calcium voltage-gated channel subunit alpha1 E

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr13:69,125,048...69,613,795
Ensembl chr13:69,132,305...69,612,983

G

calsequestrin 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18684293 PMID:21618644 PMID:28492532 PMID:32693635

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:192,214,537...192,270,820

G

dynein, axonemal, assembly factor 3

ISO

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:78,333,985...78,342,034
Ensembl chr 1:78,333,971...78,342,685

G

dipeptidyl peptidase like 6

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:8,324,843...9,242,209

G

desmoplakin

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121

G

filamin A

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343

G

filamin C

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,999,547...59,027,240

G

folliculin interacting protein 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:39,068,432...39,151,552
Ensembl chr10:39,068,445...39,151,552

G

gap junction protein, alpha 5

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:187,234,674...187,318,512

G

glycerol-3-phosphate dehydrogenase 1 like

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:123,466,667...123,498,908

G

junction plakoglobin

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:27532257 PMID:28492532 PMID:31983221 PMID:32233023

NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,800,814...85,827,429

G

potassium voltage-gated channel subfamily H member 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:10753933 PMID:20301308 PMID:21777565 PMID:25741868 PMID:28280240 More...

NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421

G

potassium inwardly-rectifying channel, subfamily J, member 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901

G

potassium voltage-gated channel subfamily Q member 1

ISO

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:9799083 PMID:12388934 PMID:15840476 PMID:17470695 PMID:19490272 More...

NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072

G

laminin subunit alpha 4

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23861362 PMID:28492532 PMID:30847666

NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972

G

laminin subunit gamma 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr13:67,924,872...68,051,986
Ensembl chr13:67,924,872...68,051,986

G

lamin A/C

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28663758 PMID:31383942

NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072

G

mitogen activated protein kinase kinase kinase 7

ISS

OMIM:194200

NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012

G

myosin binding protein C3

ISO

ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:16858239 PMID:17192269 PMID:18533079 PMID:19150014 PMID:20031602 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:97,551,061...97,569,216

G

myosin heavy chain 11

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678

G

myosin heavy chain 6

ISO

DNA:missense mutation:exon:p.E1885K (c.5653G>A) (human)
ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More...

NCBI chr15:32,388,102...32,413,663
Ensembl chr15:32,387,487...32,411,333

G

myosin heavy chain 7

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12749056 More...

NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194

G

nudE neurodevelopment protein 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447

G

nebulette

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr17:85,022,953...85,374,848
Ensembl chr17:85,022,963...85,374,172

G

nodal growth differentiation factor

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:19064609 PMID:25741868 PMID:28492532

NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,911,258...29,919,659

G

paired-like homeodomain 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591

G

PR/SET domain 16

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023 PMID:37614113

NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804

G

protein kinase AMP-activated non-catalytic subunit gamma 2

ISO
ISS

ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset
OMIM:194200
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More...

RGD:1580719, RGD:1580718

NCBI chr 4:10,744,695...10,985,939
Ensembl chr 4:10,744,588...10,985,939

G

RNA binding motif protein 20

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:262,688,978...262,891,364

G

rhomboid 5 homolog 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:15,911,282...15,924,214
Ensembl chr10:15,911,308...15,924,214

G

ryanodine receptor 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:24033266 PMID:24558114 PMID:25041964 PMID:25467552 PMID:25637381 More...

NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705

G

sodium voltage-gated channel alpha subunit 5

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18752142 PMID:18752973 PMID:22581653 PMID:25326637 PMID:25741868 More...

NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470

G

solute carrier family 26 member 4

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:11317356 PMID:12642503 PMID:14679580 PMID:15099345 PMID:15355436 More...

NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:53,835,110...53,873,216

G

syntrophin, alpha 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23631430 PMID:28492532

NCBI chr 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927

G

T-box transcription factor 20

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:31,475,963...31,534,009

G

T-box transcription factor 5

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023 PMID:33576403

NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359

G

titin-cap

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28771489 PMID:32233023

NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,876,939...83,879,483

G

transforming growth factor, beta receptor 2

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18781618 PMID:27879313 PMID:28492532

NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469

G

troponin I3, cardiac type

ISO

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:9241277 PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 More...

NCBI chr 1:78,342,571...78,346,255
Ensembl chr 1:78,342,592...78,346,253

G

troponin T1, slow skeletal type

ISO

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 1:78,349,035...78,359,394
Ensembl chr 1:78,349,035...78,359,394

G

troponin T2, cardiac type

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125

G

transient receptor potential cation channel, subfamily M, member 4

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:104,918,462...104,948,653

G

tetratricopeptide repeat domain 39A

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 5:124,165,102...124,204,740
Ensembl chr 5:129,380,753...129,433,372

G

titin

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31983221 More...

NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171

G

vinculin

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,315,069...3,405,163

G

WW domain containing E3 ubiquitin protein ligase 1

ISO

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 5:33,092,379...33,185,887
Ensembl chr 5:37,895,398...37,982,959

Term paths to the root

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

paths to the root