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 (399) Mouse (400) Human (17496) Chinchilla (375) Bonobo (394) Dog (397) Squirrel (383) Pig (393) Green Monkey (390) Naked Mole-rat (375) All
Genes (394)

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

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Conduction system disorder

PMID:18464934 PMID:25741909

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Conduction system disorder

PMID:2030070 PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

solute carrier family 6 member 2

NCBI chr16:35,885,756...35,935,638
Ensembl chr16:54,990,773...55,040,504

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

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

PMID:15331425 PMID:19648063 PMID:23170137

RGD:7829797 RGD:8142351

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

advanced glycosylation end-product specific receptor

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensinogen

DNA:polymorphisms, haplotypes:promoter:multiple

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

associated with Mitral Valve Insufficiency

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

alanine--glyoxylate aminotransferase 2

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

NCBI chr 5:75,322,351...75,373,261
Ensembl chr 5:80,601,554...80,652,575

G

A-kinase anchoring protein 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:12,978,221...13,602,732
Ensembl chr14:31,395,026...31,792,166

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Atrial fibrillation

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

ankyrin 2

onset

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

aminopeptidase O (putative)

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015 PMID:30061737

NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201

G

apelin

protein:decreased expression:plasma

NCBI chr X:118,775,509...118,785,224

G

Rho GTPase activating protein 10

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:140,054,130...140,412,646
Ensembl chr 4:151,726,549...152,066,977

G

armadillo like helical domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,448,251...98,670,235
Ensembl chr10:101,920,359...102,130,150

G

aryl hydrocarbon receptor nuclear translocator 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:59,376,993...59,573,925

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:17,272,632...17,300,902

G

ataxin 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:16,155,049...16,952,827
Ensembl chr 6:16,526,563...16,548,566

G

BAG cochaperone 3

ClinVar Annotator: match by term: Atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964

G

bestrophin 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:67,169,603...67,225,839

G

chromosome 1 C1orf185 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,349,126...50,394,971
Ensembl chr 1:51,844,666...51,890,499

G

calumenin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:120,691,092...120,723,303
Ensembl chr 7:133,223,269...133,247,167

G

calcium/calmodulin dependent protein kinase II delta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387

G

cullin associated and neddylation dissociated 2 (putative)

no_association

DNA:SNP:intron:rs4642101 (human)
CTD Direct Evidence: marker/mechanism

PMID:29459676 PMID:29892015 PMID:30061737

NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246

G

calsequestrin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

castor zinc finger 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091

G

caveolin 1

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:22544366 PMID:29892015

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415

G

CD36 molecule (CD36 blood group)

disease_progression

mRNA, protein:decreased expression:blood, leukocyte

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD40 molecule

treatment

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:84,603,419...84,835,082

G

cyclin dependent kinase inhibitor 1A

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

PMID:16043935 PMID:29892015

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

centrosomal protein 68

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr2A:65,119,388...65,147,624
Ensembl chr2A:66,244,826...66,274,963

G

cofilin 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,468,532...15,473,094
Ensembl chr14:33,655,744...33,659,473

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300

G

component of oligomeric golgi complex 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:99,180,197...99,543,437
Ensembl chr 7:111,934,557...112,266,513

G

corin, serine peptidase

ClinVar Annotator: match by term: Atrial fibrillation

PMID:25741868 PMID:37913506

NCBI chr 4:74,311,036...74,555,742
Ensembl chr 4:85,043,182...85,286,573

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973

G

C-reactive protein

disease_progression

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

PMID:18811807 PMID:19645035

RGD:9491838 RGD:9491839

NCBI chr 1:135,062,102...135,064,402

G

citrate synthase

protein:decreased expression:left cardiac atrium

NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854

G

cullin 4A

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:94,350,484...94,409,183
Ensembl chr13:113,428,271...113,472,701

G

cytochrome P450 family 2 subfamily C member 19

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

G

cytohesin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,749,310...72,857,992
Ensembl chr17:78,295,437...78,358,735

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604

G

diacylglycerol kinase beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:14,803,023...15,638,280
Ensembl chr 7:14,165,933...14,969,825

G

dynein axonemal heavy chain 10

CTD Direct Evidence: marker/mechanism

NCBI chr12:121,347,148...121,521,686
Ensembl chr12:125,572,597...125,744,919

G

double PHD fingers 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:53,189,348...53,475,634
Ensembl chr14:72,061,021...72,340,330

G

endothelin 1

severity

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

PMID:16762801 PMID:22669310

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

EPH receptor A3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:89,261,166...89,629,010
Ensembl chr 3:91,369,239...91,739,056

G

erb-b2 receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

fibrosin like 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:129,837,013...129,936,801

G

F-box protein 32

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:120,192,822...120,236,116
Ensembl chr 8:122,954,343...122,992,157

G

fibroblast growth factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,236,955...43,932,346
Ensembl chr 4:49,085,866...49,710,273
Ensembl chr 4:49,085,866...49,710,273

G

fms related receptor tyrosine kinase 1

mRNA,protein:increased expression:heart:

NCBI chr13:9,584,850...9,779,542

G

FERM domain containing 4B

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:69,105,231...69,478,192
Ensembl chr 3:70,471,897...70,686,895

G

GATA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:7,442,921...7,526,731

G

GATA binding protein 5

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

Ensembl chr20:60,148,359...60,158,886

G

gap junction protein alpha 1

susceptibility

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

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

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

NCBI chr 6:119,213,513...119,227,617

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Atrial fibrillation, somatic

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

G protein subunit beta 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:176,428,475...176,483,905
Ensembl chr 3:184,601,229...184,630,913

G

golgi associated PDZ and coiled-coil motif containing

CTD Direct Evidence: marker/mechanism

NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010

G

golgi SNAP receptor complex member 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:10,561,574...10,580,489
Ensembl chr17:10,715,452...10,759,004

G

glycoprotein VI platelet

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

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

gelsolin

disease_progression

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

general transcription factor IIi

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

Ensembl chr 7:81,831,442...81,901,926

G

glycophorin C (Gerbich blood group)

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr2B:33,578,851...33,619,869

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 4:165,755,000...165,758,735

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Atrial fibrillation

PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 PMID:25741868 More...

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr15:42,555,131...42,785,228
Ensembl chr15:60,848,493...61,017,244

G

hepatocyte growth factor

protein:increased expression:serum:

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

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

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

huntingtin interacting protein 1 related

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:120,438,841...120,467,489
Ensembl chr12:124,685,091...124,700,726

G

heat shock transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:120,187,898...120,221,391
Ensembl chr 6:124,312,353...124,348,628

G

heparan sulfate proteoglycan 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400

G

5-hydroxytryptamine receptor 4

CTD Direct Evidence: therapeutic

NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interferon regulatory factor 2 binding protein like

CTD Direct Evidence: marker/mechanism

NCBI chr14:57,577,085...57,581,220

G

ISL LIM homeobox 1

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

NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674

G

integrin subunit alpha M

treatment

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

PMID:26763077 PMID:28073885

RGD:329901660 RGD:329901663

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

potassium voltage-gated channel subfamily A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,165,057...5,168,307

G

potassium voltage-gated channel subfamily D member 3

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814

G

potassium voltage-gated channel subfamily E regulatory subunit 1

NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Atrial fibrillation

PMID:15368194 PMID:16487223 PMID:18006559 PMID:22581653 PMID:24681347 More...

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium inwardly rectifying channel subfamily J member 5

CTD Direct Evidence: marker/mechanism

PMID:11693772 PMID:29892015 PMID:30061737

NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213

G

potassium calcium-activated channel subfamily N member 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079

G

potassium calcium-activated channel subfamily N member 3

CTD Direct Evidence: marker/mechanism

PMID:20173747 PMID:30061737

NCBI chr 1:130,052,903...130,218,977
Ensembl chr 1:133,666,876...133,828,366

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr11:2,469,750...2,874,467

G

lysine demethylase 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,002,763...18,071,598
Ensembl chr 6:18,355,907...18,425,552

G

kinesin family member 3C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr2A:25,927,039...25,982,715
Ensembl chr2A:26,020,025...26,074,961

G

LIM homeobox 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366

G

AGBL carboxypeptidase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:47,807,888...49,264,213
Ensembl chr 1:49,511,379...49,560,314
Ensembl chr 1:49,511,379...49,560,314

G

myosin-7

ClinVar Annotator: match by term: Atrial fibrillation

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

nascent polypeptide associated complex subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:32,180,823...32,195,645
Ensembl chr12:32,434,366...32,447,510

G

leucine rich repeats and immunoglobulin like domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:66,271,849...66,394,056
Ensembl chr 3:67,644,289...67,765,194

G

leucine rich melanocyte differentiation associated

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:71,957,984...73,085,285
Ensembl chr10:74,630,828...75,747,045

G

leucine rich repeat containing 10

CTD Direct Evidence: marker/mechanism

NCBI chr12:67,135,114...67,137,929
Ensembl chr12:69,907,049...69,907,882

G

microtubule associated protein tau

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129

G

methyl-CpG binding domain protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042

G

mex-3 RNA binding family member C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:44,546,129...44,569,580

G

matrix metallopeptidase 1

protein:increased expression:papillary muscle of left ventricle

PMID:19734590 PMID:20935575

RGD:8549736 RGD:8693675

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 3

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

protein:increased expression:papillary muscle of left ventricle

PMID:18194448 PMID:19734590

RGD:8547896 RGD:8549736

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism

PMID:30061737 PMID:34515533

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

myosin XVIIIB

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr22:6,802,390...7,118,996
Ensembl chr22:24,529,348...24,816,779

G

myosin IC

CTD Direct Evidence: marker/mechanism

NCBI chr17:1,446,506...1,475,634
Ensembl chr17:1,345,143...1,375,540

G

myocardin

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr17:38,880,120...38,983,246
Ensembl chr17:43,584,259...43,681,659

G

myotilin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960

G

myozenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:70,179,020...70,194,885
Ensembl chr10:72,635,720...72,645,602

G

myopalladin

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967

G

neuron navigator 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:19,370,095...20,143,255
Ensembl chr11:19,288,598...20,055,758

G

nebulette

ClinVar Annotator: match by term: Atrial fibrillation

NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236

G

neuralized E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:100,093,614...100,192,485

G

NK2 homeobox 5

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

nuclear receptor subfamily 3 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269

G

nuclear casein kinase and cyclin dependent kinase substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,322,760...181,359,321
Ensembl chr 1:185,606,796...185,642,984

G

nucleoporin 155

ClinVar Annotator: match by term: Atrial fibrillation

NCBI chr 5:73,000,597...73,080,417
Ensembl chr 5:78,285,001...78,360,601

G

opsin 1, short wave sensitive

CTD Direct Evidence: marker/mechanism

NCBI chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507

G

pleckstrin homology like domain family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:73,530,456...73,543,951
Ensembl chr12:76,387,313...76,388,502

G

pleckstrin homology like domain family B member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:108,878,798...109,120,501
Ensembl chr 3:115,745,634...116,044,586

G

paired like homeodomain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,112,624...103,137,356

G

plakophilin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998

G

phospholamban

CTD Direct Evidence: marker/mechanism

NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668

G

pro-platelet basic protein

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

PMID:2946878 PMID:37294500

RGD:329901822 RGD:401794955

NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702

G

PTPRF interacting protein alpha 4

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 1:178,628,003...178,680,528
Ensembl chr 1:182,922,758...182,975,300

G

protein phosphatase 2 regulatory subunit B''alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:133,017,166...133,202,163
Ensembl chr 3:140,485,925...140,666,592

G

paired related homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810

G

proteasome 20S subunit beta 7

CTD Direct Evidence: marker/mechanism

NCBI chr 9:95,475,378...95,540,314
Ensembl chr 9:123,995,678...124,057,483

G

parathyroid hormone

protein:increased expression:serum (human)

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

RNA binding motif protein 20

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909

G

receptor accessory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:86,268,147...86,391,520
Ensembl chr2A:87,814,047...87,936,984

G

receptor accessory protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,028,052...60,133,363
Ensembl chr10:62,351,045...62,454,931

G

renin

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

NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393

G

roundabout guidance receptor 1

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

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

G

ribosomal protein L3 like

CTD Direct Evidence: marker/mechanism

NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719

G

ribosomal protein S2

CTD Direct Evidence: marker/mechanism

NCBI chr16:739,562...742,323
Ensembl chr16:2,051,128...2,054,086

G

Scm polycomb group protein homolog 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:40,323,101...40,540,236
Ensembl chr 1:41,639,127...41,776,261

G

sodium voltage-gated channel alpha subunit 10

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Atrial fibrillation

PMID:10807545 PMID:11901046 PMID:14967853 PMID:15176425 PMID:15851227 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

selectin E

CTD Direct Evidence: marker/mechanism

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

sarcoglycan alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188

G

SH3 and PX domains 2A

CTD Direct Evidence: marker/mechanism

NCBI chr10:100,193,961...100,455,200
Ensembl chr10:103,663,163...103,861,437

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

solute carrier family 27 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:124,378,721...124,447,729
Ensembl chr 5:130,140,967...130,212,940

G

solute carrier family 35 member F1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:115,718,178...116,127,742
Ensembl chr 6:120,108,341...120,268,465

G

solute carrier family 9 member B1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773

G

slit guidance ligand 2

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

NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656

G

slit guidance ligand 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:164,029,432...164,664,156
Ensembl chr 5:170,793,731...171,425,242

G

SMAD family member 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:42,306,324...42,337,214

G

small nuclear ribonucleoprotein U4/U6.U5 subunit 27

CTD Direct Evidence: marker/mechanism

NCBI chr2A:69,936,640...69,947,971
Ensembl chr2A:71,054,108...71,065,343

G

syntrophin alpha 1

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476

G

superoxide dismutase 1

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

NCBI chr21:18,029,831...18,037,526

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432

G

SRY-box transcription factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,619,804...7,621,791
Ensembl chr17:7,606,086...7,608,632

G

SRY-box transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:62,361,631...62,780,805
Ensembl chr12:64,971,818...65,388,694

G

spermatogenesis associated serine rich 2 like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr2B:87,558,298...87,735,646
Ensembl chr2B:205,800,294...205,889,626

G

sarcospan

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:60,085,213...60,184,820
Ensembl chr12:62,678,540...62,735,720

G

Sad1 and UNC84 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:971,632...1,031,152
Ensembl chr 7:1,190,462...1,247,390

G

spectrin repeat containing nuclear envelope protein 2

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015

NCBI chr14:44,438,851...44,807,710
Ensembl chr14:62,751,560...63,064,136

G

synaptopodin 2 like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:70,192,289...70,204,008
Ensembl chr10:72,648,952...72,660,184

G

T-box transcription factor 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739

G

tissue factor pathway inhibitor

mRNA,protein:decreased expression:endocardium:

NCBI chr2B:74,744,154...74,834,338
Ensembl chr2B:192,541,881...192,581,384

G

transforming growth factor beta 1

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

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

thyroid hormone receptor beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:24,024,025...24,401,024
Ensembl chr 3:24,346,824...24,564,960

G

toll like receptor 2

protein:increased expression:monocyte:

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

tumor necrosis factor

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

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF superfamily member 12

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,581,163...7,589,809
Ensembl chr17:7,567,766...7,575,575

G

titin

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr2B:65,783,512...66,064,618

G

tubulin alpha 8

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730

G

ubiquitination factor E4B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:8,801,707...8,949,465
Ensembl chr 1:10,033,084...10,178,759

G

ubiquitin specific peptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr15:42,450,782...42,541,162
Ensembl chr15:60,746,406...60,830,535

G

ubiquitin specific peptidase 34

CTD Direct Evidence: marker/mechanism

NCBI chr2A:61,272,350...61,555,244
Ensembl chr2A:62,411,173...62,644,812

G

uronyl 2-sulfotransferase

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:146,562,541...146,895,450
Ensembl chr 6:151,270,505...151,597,779

G

vascular endothelial growth factor A

mRNA,protein:increased expression:heart:

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

von Willebrand factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:17890461 PMID:21497043

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WD repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:4,487,054...4,516,732
Ensembl chr 4:9,805,164...9,848,032

G

WAS/WASL interacting protein family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:61,837,128...61,960,468
Ensembl chr2B:179,290,685...179,316,695

G

Wnt family member 8A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,419,324...133,471,094
Ensembl chr 5:139,598,229...139,605,926

G

exportin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

G

exportin 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:21,163,846...21,251,377
Ensembl chr 8:18,151,659...18,191,617

G

xyloside xylosyltransferase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:192,374,972...192,574,398
Ensembl chr 3:202,675,557...202,873,399

G

zinc finger homeobox 3

CTD Direct Evidence: marker/mechanism

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

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

G

zinc finger protein 462

CTD Direct Evidence: marker/mechanism

NCBI chr 9:78,015,173...78,168,766
Ensembl chr 9:106,267,333...106,357,848

G

zona pellucida binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,410,278...17,420,458
Ensembl chr17:17,630,126...17,639,771

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

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

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

NCBI chr 5:168,336,845...168,388,230
Ensembl chr 5:175,246,088...175,297,289

G

BCL2 interacting protein 1

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

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

NCBI chr 5:168,497,889...168,517,790
Ensembl chr 5:175,406,525...175,426,087

G

CREB3 regulatory factor

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

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

NCBI chr 5:168,409,668...168,492,678
Ensembl chr 5:175,318,674...175,403,334

G

dual specificity phosphatase 1

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

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

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

endoplasmic reticulum-golgi intermediate compartment 1

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

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

NCBI chr 5:168,187,760...168,305,675
Ensembl chr 5:175,098,246...175,215,920

G

neuralized E3 ubiquitin protein ligase 1B

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

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

NCBI chr 5:167,994,646...168,045,364

G

NK2 homeobox 5

ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome

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

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

G

ribosomal protein L26 like 1

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

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

NCBI chr 5:168,311,701...168,322,770
Ensembl chr 5:175,222,385...175,232,506

G

stanniocalcin 2

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

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

NCBI chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832

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

ClinVar Annotator: match by term: Atrial standstill 1 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE

PMID:9588401 PMID:16790700 PMID:21921585 PMID:22199024 PMID:22713807 More...

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

atrial standstill 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

natriuretic peptide A

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

PMID:6225642 PMID:23275345 PMID:25741868 PMID:28492532

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha i2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988

G

lamin A/C

DNA:missense mutation:cds:p.G613A (human)
CTD Direct Evidence: marker/mechanism

PMID:10580070 PMID:25469153

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

myosin heavy chain 6

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

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

NK2 homeobox 5

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

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: AV block

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

transient receptor potential cation channel subfamily M member 4

CTD Direct Evidence: marker/mechanism

PMID:32681584 PMID:33959666

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

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

ClinVar Annotator: match by term: Brugada syndrome

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

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

acetyl-CoA acyltransferase 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,020,439...38,035,341

G

activin A receptor type 2B

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063

G

ankyrin 2

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

PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 More...

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr10:87,652,254...87,661,173
Ensembl chr10:91,180,034...91,188,165

G

calcium voltage-gated channel subunit alpha1 C

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 chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

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:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More...

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

calcium voltage-gated channel auxiliary subunit beta 2

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 chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651

G

CTD small phosphatase like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:37,761,101...37,883,330
Ensembl chr 3:38,127,971...38,166,485

G

DLEC1 cilia and flagella associated protein

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:37,937,566...38,020,662
Ensembl chr 3:38,221,275...38,303,194

G

dystrophin

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

PMID:25741868 PMID:28492532

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

desmoplakin

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

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

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

exo/endonuclease G

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,392,968...38,422,990
Ensembl chr 3:38,674,970...38,703,750

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Brugada 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 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Brugada syndrome

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

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056

G

histidine rich calcium binding protein

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

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

integrin subunit alpha 9

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:37,349,120...37,722,572
Ensembl chr 3:37,651,395...38,006,363

G

potassium voltage-gated channel subfamily D member 3

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814

G

potassium voltage-gated channel subfamily E regulatory subunit 1

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

PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More...

NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441

G

potassium voltage-gated channel subfamily E regulatory subunit 3

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:28492532 More...

NCBI chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359

G

potassium voltage-gated channel subfamily E regulatory subunit 5

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:98,731,109...98,732,575
Ensembl chr X:109,202,320...109,202,748

G

potassium voltage-gated channel subfamily H member 2

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

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

NCBI chr 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium inwardly rectifying channel subfamily J member 8

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 chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128

G

potassium voltage-gated channel subfamily Q member 1

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

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

NCBI chr11:2,469,750...2,874,467

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532 PMID:28986455

NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273

G

solute carrier family 22 member 13

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,179,107...38,216,934
Ensembl chr 3:38,486,595...38,498,833

G

myosin binding protein C3

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:21832025 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

myosin binding protein H like

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28778945

NCBI chr 1:111,670,110...111,684,979
Ensembl chr 1:110,833,438...110,847,780

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

myosin heavy chain 6

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

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

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

oxidative stress responsive kinase 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,063,299...38,153,609
Ensembl chr 3:38,345,504...38,436,275

G

plakophilin 2

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

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

NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998

G

phospholipase C delta 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:37,906,359...37,928,564
Ensembl chr 3:38,189,496...38,206,886

G

ryanodine receptor 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

sodium voltage-gated channel alpha subunit 10

ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar 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 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247

G

sodium voltage-gated channel alpha subunit 11

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,741,485...38,948,400
Ensembl chr 3:39,024,921...39,128,015

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

G

sodium voltage-gated channel beta subunit 3

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 chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063

G

sodium voltage-gated channel alpha subunit 5

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
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: 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

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

sarcolemma associated protein

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

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

NCBI chr 3:57,688,669...57,864,355
Ensembl chr 3:59,108,247...59,280,713

G

syntrophin alpha 1

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

PMID:26220970 PMID:28492532

NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476

G

SOS Ras/Rac guanine nucleotide exchange factor 1

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

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

NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961

G

titin-cap

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

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

NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727

G

transforming growth factor beta 3

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532

NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412

G

transient receptor potential cation channel subfamily M member 4

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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

titin

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

PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More...

NCBI chr2B:65,783,512...66,064,618

G

transthyretin

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

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

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

villin like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:37,883,869...37,906,054
Ensembl chr 3:38,172,789...38,189,188

G

xylulokinase

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 3:38,244,960...38,349,616
Ensembl chr 3:38,526,988...38,592,086

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

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

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

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

PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

fibrillin 1

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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Brugada syndrome 1

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

NCBI chr12:5,165,057...5,168,307

G

potassium voltage-gated channel subfamily H member 2

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 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 8

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

NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128

G

sodium voltage-gated channel alpha subunit 10

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

PMID:24998131 PMID:25053638 PMID:25085921 PMID:25650408 PMID:25691538 More...

NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247

G

sodium voltage-gated channel alpha subunit 5

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:235469 PMID:256650 PMID:291807 PMID:461398 PMID:545017 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

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

ClinVar Annotator: match by term: Brugada syndrome 2

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

NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172

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

ClinVar Annotator: match by term: Brugada syndrome 3

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

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

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

ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition

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

NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

Brugada syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkB homolog 6

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,927,382...32,932,519
Ensembl chr19:41,675,899...41,681,015

G

amyloid beta precursor like protein 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,786,362...32,797,728
Ensembl chr19:41,534,569...41,545,906

G

Rho GTPase activating protein 33

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,704,877...32,710,778
Ensembl chr19:41,439,010...41,452,173

G

ATPase H+/K+ transporting subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,496,614...32,510,649
Ensembl chr19:41,234,052...41,248,628

G

calpain small subunit 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:33,059,291...33,069,311
Ensembl chr19:41,806,746...41,816,858

G

CD22 molecule

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,265,278...32,294,122
Ensembl chr19:41,012,222...41,030,713

G

CAP-Gly domain containing linker protein 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,932,915...32,951,047
Ensembl chr19:41,681,432...41,699,680

G

dermokine

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,443,920...32,460,473

G

ETS variant transcription factor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,571,829...32,575,083
Ensembl chr19:41,307,864...41,311,004

G

family with sequence similarity 187 member B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,171,403...32,175,555
Ensembl chr19:40,908,973...40,912,882

G

free fatty acid receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,298,259...32,300,601
Ensembl chr19:41,034,905...41,035,807

G

free fatty acid receptor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,394,401...32,398,730
Ensembl chr19:41,132,599...41,133,591

G

free fatty acid receptor 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,305,112...32,307,223

G

FXYD domain containing ion transport regulator 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,080,180...32,089,141
Ensembl chr19:40,824,448...40,827,039

G

FXYD domain containing ion transport regulator 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,036,936...32,070,374

G

FXYD domain containing ion transport regulator 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,100,475...32,115,826
Ensembl chr19:40,839,798...40,854,027

G

FXYD domain containing ion transport regulator 7

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,089,090...32,100,331
Ensembl chr19:40,827,468...40,838,549

G

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,479,559...32,491,959
Ensembl chr19:41,216,758...41,228,750

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

G

HAUS augmin like complex subunit 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,542,957...32,554,284
Ensembl chr19:41,241,367...41,290,718

G

hematopoietic cell signal transducer

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,817,826...32,821,149
Ensembl chr19:41,568,739...41,570,544

G

hepsin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:31,985,761...32,012,841
Ensembl chr19:40,725,319...40,750,628

G

heat shock protein family B (small) member 6

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,684,355...32,686,833
Ensembl chr19:41,419,608...41,420,972

G

IGF like family receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,669,012...32,672,393

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467

G

lysine methyltransferase 2B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695

G

keratinocyte differentiation associated protein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,434,016...32,437,611
Ensembl chr19:41,170,227...41,173,441

G

leucine rich repeat LGI family member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,070,563...32,082,273
Ensembl chr19:40,808,847...40,827,024

G

lin-37 DREAM MuvB core complex component

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,678,141...32,684,305
Ensembl chr19:41,412,809...41,418,563

G

cytochrome c oxidase subunit 6B1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,578,126...32,588,684
Ensembl chr19:41,314,020...41,324,489

G

cytochrome c oxidase subunit 7A1, mitochondrial

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:33,069,878...33,071,835
Ensembl chr19:41,817,074...41,819,025

G

leucine rich repeat and fibronectin type III domain containing 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,852,993...32,863,240
Ensembl chr19:41,601,372...41,615,210

G

lipolysis stimulated lipoprotein receptor

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,195,036...32,214,300
Ensembl chr19:40,932,180...40,951,448

G

myelin associated glycoprotein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,238,457...32,260,497
Ensembl chr19:40,975,763...40,997,401

G

NFKB inhibitor delta

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,805,772...32,817,778
Ensembl chr19:41,553,727...41,568,555

G

ovo like zinc finger 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:33,030,285...33,032,988
Ensembl chr19:41,777,055...41,780,124

G

RNA polymerase II subunit I

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:33,032,989...33,034,628
Ensembl chr19:41,780,125...41,781,764

G

proline dehydrogenase 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,713,686...32,726,964
Ensembl chr19:41,462,735...41,476,308

G

proline and serine rich 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,687,750...32,701,198
Ensembl chr19:41,422,177...41,431,928

G

presenilin enhancer, gamma-secretase subunit

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,675,331...32,677,285
Ensembl chr19:41,409,662...41,411,089

G

RNA binding motif protein 42

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,559,215...32,567,899
Ensembl chr19:41,294,818...41,303,817

G

suprabasin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,470,103...32,475,368

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Brugada syndrome 5

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

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

G

succinate dehydrogenase complex assembly factor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,911,720...32,912,893
Ensembl chr19:41,660,221...41,660,568

G

spectrin repeat containing nuclear envelope family member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,921,175...32,927,266
Ensembl chr19:41,671,236...41,675,697

G

tubulin folding cofactor B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:33,034,583...33,045,253
Ensembl chr19:41,781,404...41,792,375

G

THAP domain containing 8

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,953,138...32,973,651
Ensembl chr19:41,701,760...41,721,269

G

transmembrane protein 147

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,492,030...32,493,944
Ensembl chr19:41,229,033...41,230,960

G

transmembrane immune signaling adaptor TYROBP

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,821,279...32,825,488
Ensembl chr19:41,570,683...41,575,226

G

U2 small nuclear RNA auxiliary factor 1 like 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,672,304...32,675,256
Ensembl chr19:41,406,661...41,409,548

G

uroplakin 1A

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,596,034...32,608,228

G

upstream transcription factor 2, c-fos interacting

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,215,305...32,226,172

G

WD repeat domain 62

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038

G

zinc finger and BTB domain containing 32

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr19:32,633,923...32,647,675
Ensembl chr19:41,369,043...41,381,634

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

ClinVar Annotator: match by term: Brugada syndrome 6

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

NCBI chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359

G

lipoyl(octanoyl) transferase 2

ClinVar Annotator: match by term: Brugada syndrome 6

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

NCBI chr11:69,564,555...69,566,759
Ensembl chr11:72,869,834...72,872,050

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7

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

NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063

Brugada syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADP dependent glucokinase

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,669,462...51,702,439
Ensembl chr15:70,429,956...70,462,444

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,423,132...51,534,278
Ensembl chr15:70,187,722...70,297,226

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964

G

golgin A6 family member B

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,553,289...51,584,844

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Brugada syndrome 8

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

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,235,123...51,326,832
Ensembl chr15:70,057,943...70,090,688
Ensembl chr15:70,057,943...70,090,688

G

neogenin 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,968,238...52,221,116
Ensembl chr15:70,789,035...70,977,178

G

transmembrane protein 202

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr15:51,347,032...51,357,008
Ensembl chr15:70,111,035...70,120,598

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

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:21349352 PMID:21640846 PMID:21703448 PMID:22284586 PMID:22336521 More...

NCBI chr 1:114,433,203...114,651,894
Ensembl chr 1:125,696,907...125,909,814

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:25741868 PMID:28492532

NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273

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

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

ankyrin 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 More...

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

calsequestrin 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27114410 PMID:28492532

NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

dystrophin

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:28492532

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

desmoglein 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

desmoplakin

ClinVar Annotator: match by term: cardiac conduction defect

PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

junction plakoglobin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 7:142,528,979...142,562,074

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: cardiac conduction defect

PMID:9323054 PMID:10482963 PMID:10704188 PMID:10737999 PMID:10973849 More...

NCBI chr11:2,469,750...2,874,467

G

myosin-7

ClinVar Annotator: match by term: cardiac conduction defect

PMID:16199547 PMID:25741868 PMID:28492532 PMID:29343803 PMID:36923113

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

myosin binding protein C3

ClinVar Annotator: match by term: cardiac conduction defect

PMID:9536098 PMID:15519027 PMID:16858239 PMID:17576681 PMID:18273486 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

NK2 homeobox 5

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

G

plakophilin 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998

G

ryanodine receptor 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 PMID:23861362 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

transthyretin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

Cardiac Conduction Defect, Nonspecific

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 5

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

PMID:2030070 PMID:11748104 PMID:12574143 PMID:14523039 PMID:16922724 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

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

DNA:missense mutations:cds:multiple (human)

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

fucose-1-phosphate guanylyltransferase

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 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240

G

leucine rich repeat containing 53

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 1:73,698,516...73,741,908
Ensembl chr 1:75,674,245...75,687,706

catecholaminergic polymorphic ventricular tachycardia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

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

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calmodulin 1

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

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

NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135

G

calsequestrin 2

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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

desmoglein 2

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

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

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

FKBP prolyl isomerase 1B

NCBI chr2A:24,047,287...24,065,765
Ensembl chr2A:24,145,893...24,159,082

G

lamin A/C

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

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

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

metallothionein 1H like 1

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435

G

5-methyltetrahydrofolate-homocysteine methyltransferase

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

myosin binding protein C3

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

PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:28600387 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

ryanodine receptor 2

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:9536098 PMID:11078270 PMID:11157710 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

trans-2,3-enoyl-CoA reductase like

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,639,203...59,771,739
Ensembl chr 4:66,013,408...66,144,853

G

triadin

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 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537

G

transient receptor potential cation channel subfamily M member 4

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

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

VANGL planar cell polarity protein 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552

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

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

NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103

G

ankyrin 2

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

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

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

ATPase Na+/K+ transporting subunit alpha 1

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

NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099

G

calmodulin 1

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

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

NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135

G

calsequestrin 2

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: 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 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

DM1 protein kinase

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

NCBI chr19:42,779,173...42,791,981
Ensembl chr19:51,316,099...51,329,355

G

desmoglein 2

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

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

NCBI chr18:24,716,181...24,766,837
Ensembl chr18:28,313,223...28,363,786

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

potassium voltage-gated channel subfamily H member 2

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

NCBI chr 7:142,528,979...142,562,074

G

laminin subunit alpha 4

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

NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273

G

lamin A/C

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

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

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

fucose-1-phosphate guanylyltransferase

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

NCBI chr 1:73,464,364...73,772,977
Ensembl chr 1:75,403,555...75,747,240

G

mab-21 like 3

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

NCBI chr 1:86,432,777...86,457,064
Ensembl chr 1:121,481,357...121,504,841

G

metallothionein 1H like 1

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

NCBI chr 1:212,568,334...212,568,824
Ensembl chr 1:217,566,250...217,566,435

G

5-methyltetrahydrofolate-homocysteine methyltransferase

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

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

myosin binding protein C3

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

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

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

nescient helix-loop-helix 2

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

NCBI chr 1:86,719,650...86,727,607
Ensembl chr 1:121,774,940...121,775,347

G

ryanodine receptor 2

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

PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia

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

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

solute carrier family 22 member 15

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

NCBI chr 1:86,497,379...86,591,157
Ensembl chr 1:121,547,438...121,628,151

G

tropomyosin 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530

G

triadin

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

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

NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537

G

transient receptor potential cation channel subfamily M member 4

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

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

VANGL planar cell polarity protein 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552

catecholaminergic polymorphic ventricular tachycardia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calsequestrin 2

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

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

NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

ryanodine receptor 2

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

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

VANGL planar cell polarity protein 1

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

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

NCBI chr 1:86,865,983...86,922,175
Ensembl chr 1:121,921,934...121,970,552

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

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 chr 4:59,639,203...59,771,739
Ensembl chr 4:66,013,408...66,144,853

catecholaminergic polymorphic ventricular tachycardia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 1

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

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

NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135

catecholaminergic polymorphic ventricular tachycardia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

triadin

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: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22422768 PMID:23035052 More...

NCBI chr 6:121,010,234...121,424,644
Ensembl chr 6:125,134,433...125,546,537

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

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

GATA binding protein 5

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

Ensembl chr20:60,148,359...60,158,886

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:12522116 PMID:28492532

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr12:5,165,057...5,168,307

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Familial atrial fibrillation

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Familial atrial fibrillation

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

NCBI chr11:2,469,750...2,874,467

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273

G

myosin light chain 4

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:27066836 PMID:28492532 PMID:29080865

NCBI chr17:10,224,756...10,259,227
Ensembl chr17:10,439,346...10,454,272

G

NK2 homeobox 6

susceptibility

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

NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643

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

ClinVar Annotator: match by term: ATFB1

PMID:25741868 PMID:28492532

NCBI chr 4:103,112,624...103,137,356

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

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

PMID:291807 PMID:461398 PMID:1309946 PMID:3953067 PMID:8661019 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

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

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

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

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

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

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

PMID:9536098 PMID:15034580 PMID:17245405 PMID:17576681 PMID:24033266 More...

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

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

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

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

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

Familial Atrial Fibrillation 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 2

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 chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500

Familial Atrial Fibrillation 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 155

ClinVar Annotator: match by term: Atrial fibrillation, familial, 15

PMID:15596564 PMID:19070573 PMID:25741868

NCBI chr 5:73,000,597...73,080,417
Ensembl chr 5:78,285,001...78,360,601

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

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

NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892

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

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 chr17:10,224,756...10,259,227
Ensembl chr17:10,439,346...10,454,272

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 3

PMID:234416 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 More...

NCBI chr11:2,469,750...2,874,467

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 4

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

Familial Atrial Fibrillation 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor associated protein

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326

G

angiopoietin like 7

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048

G

chromosome 1 C1orf127 homolog

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,707,483...9,725,888
Ensembl chr 1:10,929,614...10,966,254

G

chromosome 1 C1orf167 homolog

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155

G

castor zinc finger 1

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091

G

chloride voltage-gated channel 6

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505

G

dispatched RND transporter family member 3

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410

G

dorsal inhibitory axon guidance protein

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012

G

exosome component 10

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241

G

F-box protein 2

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171

G

F-box protein 44

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

Ensembl chr 1:11,632,768...11,640,846

G

F-box protein 6

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837

G

KIAA2013 ortholog

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,669,585...10,676,372

G

mitotic arrest deficient 2 like 2

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734

G

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

natriuretic peptide A

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

PMID:6225642 PMID:9536098 PMID:15017020 PMID:17460430 PMID:17576681 More...

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

natriuretic peptide B

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308

G

spermidine synthase

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,817,765...9,823,244

G

TAR DNA binding protein

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:9,775,084...9,786,710
Ensembl chr 1:10,996,006...11,008,732

G

UbiA prenyltransferase domain containing 1

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6

NCBI chr 1:10,039,415...10,161,005
Ensembl chr 1:11,260,412...11,281,381

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 7

NCBI chr12:5,027,333...5,037,136
Ensembl chr12:4,950,938...4,952,425

G

potassium voltage-gated channel subfamily A member 5

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

PMID:15735608 PMID:16025157 PMID:16411137 PMID:16772329 PMID:17266934 More...

NCBI chr12:5,165,057...5,168,307

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 8

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

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

ClinVar Annotator: match by term: Atrial fibrillation, familial, 9

PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More...

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

first-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin-7

ClinVar Annotator: match by term: First degree atrioventricular block

PMID:21127202 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26150528 More...

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

long QT syndrome 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 3

ClinVar Annotator: match by term: Long QT syndrome 16

PMID:9536098 PMID:17576681 PMID:25460178 PMID:25741868 PMID:28492532 More...

NCBI chr19:43,593,069...43,602,550
Ensembl chr19:52,121,687...52,131,135

Paroxysmal Atrial Fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

protein:decreased expression:serum:

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:20817017 PMID:25527503 PMID:25741868 PMID:28492532

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

MIB E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813

G

myosin binding protein C3

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:12818575 PMID:14563344 PMID:15114369 PMID:15519027 PMID:20215591 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

transcription factor 21

susceptibility

DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human)

NCBI chr 6:131,656,582...131,662,983
Ensembl chr 6:135,754,896...135,761,294

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)

DNA:SNP:intron:rs4642101 (human)

NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246

G

C-reactive protein

no_association

NCBI chr 1:135,062,102...135,064,402

G

glutathione peroxidase 3

associated with coronary artery disease;protein:increased expression:plasma

NCBI chr 5:146,447,939...146,456,476

G

gelsolin

susceptibility

DNA:SNP:: (rs2230287) (human)

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

interleukin 6

disease_progression

NCBI chr 7:23,415,922...23,420,767

G

serpin family E member 1

protein:increased expression:plasma (human)

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

progressive familial heart block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calsequestrin 2

ClinVar Annotator: match by term: Progressive familial heart block

PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648

NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

desmoplakin

ClinVar Annotator: match by term: Progressive familial heart block

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

histidine rich calcium binding protein

ClinVar Annotator: match by term: Hereditary bundle branch system defect

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block

PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

transient receptor potential cation channel subfamily M member 4

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:26350513 More...

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

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

ClinVar Annotator: match by term: Heart block progressive familial type 1

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1

PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Heart block progressive familial type 1

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

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

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

ClinVar Annotator: match by term: Hereditary bundle branch system defect

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

transient receptor potential cation channel subfamily M member 4

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 chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

progressive familial heart block type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 20 C19orf73 homolog

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,129,587...46,132,416
Ensembl chr19:55,055,934...55,056,323

G

glycogen synthase 1

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:45,970,127...45,995,269
Ensembl chr19:54,761,479...54,786,726

G

histidine rich calcium binding protein

ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

potassium voltage-gated channel subfamily A member 7

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,077,423...46,083,245

G

luteinizing hormone subunit beta

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424

G

lin-7 homolog B, crumbs cell polarity complex component

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,125,272...46,129,450
Ensembl chr19:55,047,704...55,055,761

G

neurotrophin 4

ClinVar Annotator: match by term: Progressive familial heart block type IB

Ensembl chr19:54,995,009...54,995,641

G

PTPRF interacting protein alpha 3

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,130,396...46,162,065
Ensembl chr19:55,056,824...55,089,124

G

RuvB like AAA ATPase 2

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:45,995,394...46,017,835
Ensembl chr19:54,739,474...54,761,407

G

small nuclear ribonucleoprotein U1 subunit 70

ClinVar Annotator: match by term: Progressive familial heart block type IB

NCBI chr19:46,094,679...46,118,022
Ensembl chr19:55,021,402...55,046,281

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related condition

PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

second-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK2 homeobox 5

ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree

NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514

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

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 chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ClinVar Annotator: match by term: Short QT syndrome

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Short QT Syndrome 5

PMID:25741868 PMID:28492532

NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Short QT syndrome

PMID:11173780 PMID:12925462 PMID:14676148 PMID:15828882 PMID:18692916 More...

NCBI chr 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Short QT syndrome

PMID:8078584 PMID:15761194 PMID:17640933 PMID:22308236 PMID:22371365 More...

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Short QT syndrome

PMID:9536098 PMID:11278406 PMID:15051636 PMID:15159330 PMID:17576681 More...

NCBI chr11:2,469,750...2,874,467

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

vinculin

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr10:70,521,259...70,641,917
Ensembl chr10:73,191,375...73,311,296

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

ClinVar Annotator: match by term: KCNH2-related condition | ClinVar Annotator: match by term: KCNH2-related disorders | ClinVar Annotator: match by term: Short QT syndrome type 1

PMID:260666 PMID:2294929 PMID:2870438 PMID:7889573 PMID:8700910 More...

NCBI chr 7:142,528,979...142,562,074

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

ClinVar Annotator: match by term: Short QT syndrome type 2

PMID:234416 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 More...

NCBI chr11:2,469,750...2,874,467

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

ClinVar Annotator: match by term: Short QT syndrome type 3

PMID:8078584 PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 More...

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

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

ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7

PMID:25741868 PMID:28492532 PMID:29167417

NCBI chr2B:106,884,750...106,899,143
Ensembl chr2B:225,475,148...225,489,189

sick sinus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

DNA:SNP:promoter:-6G>A (human)

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

ankyrin 2

susceptibility

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

calcium voltage-gated channel subunit alpha1 D

CTD Direct Evidence: marker/mechanism

NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444

G

coronin 1A

ClinVar Annotator: match by term: Sinus node disease

Ensembl chr16:30,550,383...30,556,196

G

hyperpolarization activated cyclic nucleotide gated potassium channel 1

OMIM:163800 | OMIM:608567 | OMIM:614090

NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761

G

potassium inwardly rectifying channel subfamily J member 5

CTD Direct Evidence: therapeutic

NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213

G

lamin A/C

ClinVar Annotator: match by term: Sick sinus syndrome

PMID:25741868 PMID:27182706 PMID:29947763 PMID:31847799 PMID:34831398

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease

PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

syntrophin alpha 1

ClinVar Annotator: match by term: Sick sinus syndrome

PMID:25741868 PMID:28492532

NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476

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

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: 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 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

PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2030070 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

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

ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant

PMID:9536098 PMID:12750403 PMID:15123648 PMID:16407510 PMID:17576681 More...

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

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

ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to

PMID:9536098 PMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 More...

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

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

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 chr 7:92,700,807...92,706,211
Ensembl chr 7:106,104,339...106,107,270

sinoatrial node disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 2

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

coronin 1A

ClinVar Annotator: match by term: Sinoatrial node disease

Ensembl chr16:30,550,383...30,556,196

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Sinoatrial node disease

PMID:10377081 PMID:10727653 PMID:10961955 PMID:10973849 PMID:11901046 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

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

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

ankyrin 2

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532 PMID:30847666

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22581653 More...

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:17576681 PMID:20817017 PMID:21383000 PMID:22840528 More...

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr10:18,459,528...18,862,495
Ensembl chr10:18,795,832...19,195,226

G

dystrophin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28492532

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

desmoplakin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28341588 PMID:28492532

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

G

histidine rich calcium binding protein

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr19:46,162,231...46,166,606
Ensembl chr19:55,089,384...55,093,463

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More...

NCBI chr21:20,818,395...20,884,053
Ensembl chr21:34,190,043...34,190,441

G

potassium voltage-gated channel subfamily E regulatory subunit 3

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:19122847 PMID:19306396 PMID:23861362 PMID:25741868 PMID:28492532 More...

NCBI chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359

G

potassium voltage-gated channel subfamily E regulatory subunit 5

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28492532 PMID:30847666

NCBI chr X:98,731,109...98,732,575
Ensembl chr X:109,202,320...109,202,748

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 8

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr12:64,522,172...64,532,848
Ensembl chr12:67,127,263...67,137,128

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr11:2,469,750...2,874,467

G

myosin binding protein C3

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

myosin heavy chain 6

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

plakophilin 2

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998

G

sodium voltage-gated channel alpha subunit 10

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 3:38,593,765...38,691,172
Ensembl chr 3:38,876,068...38,972,247

G

sodium voltage-gated channel beta subunit 3

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:2380016 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

sarcolemma associated protein

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:25741868 PMID:28492532

NCBI chr 3:57,688,669...57,864,355
Ensembl chr 3:59,108,247...59,280,713

G

syntrophin alpha 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:26220970 PMID:28492532

NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961

G

titin-cap

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

titin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:17344846 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 More...

NCBI chr2B:65,783,512...66,064,618

G

transthyretin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

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

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr12:5,165,057...5,168,307

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

G

titin

ClinVar Annotator: match by term: Third degree atrioventricular block

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More...

NCBI chr2B:65,783,512...66,064,618

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr10:97,588,811...97,595,663
Ensembl chr10:101,065,096...101,071,407

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

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr12:64,357,176...64,500,358
Ensembl chr12:66,960,888...67,102,496

G

actinin alpha 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:22584458 PMID:28492532 PMID:32233023

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

ankyrin 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28191889 PMID:28492532 PMID:32233023

NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905

G

bone morphogenetic protein receptor type 1A

OMIM:194200

NCBI chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25633834 PMID:25741868 PMID:28492532 PMID:28600387 PMID:28616568 More...

NCBI chr12:2,166,672...2,817,827
Ensembl chr12:2,114,140...2,744,826

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270

G

calsequestrin 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18684293 PMID:21618644 PMID:28492532 PMID:32693635

NCBI chr 1:86,795,392...86,864,196
Ensembl chr 1:121,844,097...121,913,311

G

dynein axonemal assembly factor 3

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr19:52,199,690...52,208,648
Ensembl chr19:60,894,180...60,902,686

G

dipeptidyl peptidase like 6

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 7:145,356,340...146,492,773
Ensembl chr 7:157,635,828...158,220,345

G

desmoplakin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391

G

filamin A

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr X:143,799,088...143,825,282

G

filamin C

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896

G

folliculin interacting protein 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 5:127,070,906...127,219,548
Ensembl chr 5:133,235,501...133,384,218

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr 3:32,026,586...32,088,512
Ensembl chr 3:32,342,776...32,404,172

G

junction plakoglobin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:27532257 PMID:28492532 PMID:31983221 PMID:32233023

NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:10753933 PMID:20301308 PMID:21777565 PMID:25741868 PMID:28280240 More...

NCBI chr 7:142,528,979...142,562,074

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:9799083 PMID:12388934 PMID:15840476 PMID:17470695 PMID:19490272 More...

NCBI chr11:2,469,750...2,874,467

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23861362 PMID:28492532 PMID:30847666

NCBI chr 6:109,920,329...110,066,076
Ensembl chr 6:113,995,888...114,141,273

G

laminin subunit gamma 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534

G

lamin A/C

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28663758 PMID:31383942

NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539

G

myosin-7

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12749056 More...

NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763

G

actin alpha cardiac muscle 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr15:13,707,475...13,712,905
Ensembl chr15:31,966,278...31,971,782

G

myosin binding protein C3

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:16858239 PMID:18533079 PMID:19150014 PMID:20031602 PMID:20173211 More...

NCBI chr11:47,277,799...47,299,102
Ensembl chr11:47,831,087...47,851,849

G

myosin heavy chain 11

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

Ensembl chr16:16,007,168...16,091,058

G

myosin heavy chain 6

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More...

NCBI chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

Ensembl chr16:15,948,881...16,027,986

G

nebulette

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:20,941,514...21,336,931
Ensembl chr10:21,244,693...21,632,236

G

nodal growth differentiation factor

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:19064609 PMID:25741868 PMID:28492532

NCBI chr10:66,906,866...66,916,938
Ensembl chr10:69,433,959...69,443,972

G

paired like homeodomain 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 4:103,112,624...103,137,356

G

PR/SET domain 16

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

G

protein kinase AMP-activated non-catalytic subunit gamma 2

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

PMID:10355918 PMID:10820940 PMID:11407343 PMID:11407351 PMID:11586962 More...

NCBI chr 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078

G

RNA binding motif protein 20

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:107,240,854...107,433,749
Ensembl chr10:110,822,255...110,882,909

G

rhomboid 5 homolog 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

Ensembl chr16:49,031...57,222

G

ryanodine receptor 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:24033266 PMID:24558114 PMID:25041964 PMID:25351510 PMID:25467552 More...

NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18752142 PMID:18752973 PMID:22581653 PMID:25326637 PMID:25741868 More...

NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:11317356 PMID:12642503 PMID:14679580 PMID:15099345 PMID:15355436 More...

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

G

syntrophin alpha 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23631430 PMID:28492532

NCBI chr20:29,696,137...29,732,258
Ensembl chr20:30,810,787...30,844,476

G

T-box transcription factor 20

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 7:35,855,969...35,878,533

G

T-box transcription factor 5

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739

G

titin-cap

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28771489 PMID:32233023

NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727

G

transforming growth factor beta receptor 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18781618 PMID:27879313 PMID:28492532

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

PMID:9241277 PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 More...

NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219

G

troponin T1, slow skeletal type

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr19:52,173,523...52,190,577
Ensembl chr19:60,868,330...60,882,005

G

troponin T2, cardiac type

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:9714088 PMID:14636924 PMID:16115869 PMID:16858239 PMID:18533079 More...

NCBI chr 1:176,957,298...176,976,033

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

tetratricopeptide repeat domain 39A

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:50,531,607...50,589,515
Ensembl chr 1:52,030,470...52,074,328

G

titin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31983221 More...

NCBI chr2B:65,783,512...66,064,618

G

vinculin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr10:70,521,259...70,641,917
Ensembl chr10:73,191,375...73,311,296

G

WW domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 8:83,039,632...83,165,010
Ensembl chr 8:85,009,951...85,134,671

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of anatomical entity	15260
cardiovascular system disease	4333
heart disease	3028
heart conduction disease	394
Brugada syndrome +	124
Wolff-Parkinson-White syndrome	52
atrial fibrillation +	227
atrial standstill 1	3
atrial standstill 2	1
atrioventricular block +	32
catecholaminergic polymorphic ventricular tachycardia +	29
left bundle branch hemiblock	0
postural orthostatic tachycardia syndrome	0
progressive familial heart block +	14
right bundle branch block +	0
short QT syndrome +	9
sinoatrial node disease +	13

paths to the root