heart conduction disease - Ontology Report - Rat Genome Database

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

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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 (466) Mouse (467) Human (21258) Chinchilla (442) Bonobo (461) Dog (464) Squirrel (449) Pig (460) Green Monkey (458) Naked Mole-rat (441) All
Genes (460)

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 chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Conduction system disorder

PMID:18464934 PMID:25741868

NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

solute carrier family 6 member 2

NCBI chr 6:29,931,650...29,981,636
Ensembl chr 6:29,931,664...29,981,372

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

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

PMID:15331425 PMID:19648063 PMID:23170137

RGD:7829797 RGD:8142351

NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703

G

AGBL carboxypeptidase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:161,953,495...163,216,282

G

advanced glycosylation end-product specific receptor

NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162

G

angiotensinogen

DNA:polymorphisms, haplotypes:promoter:multiple

NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

angiotensin II receptor type 1

associated with Mitral Valve Insufficiency

NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105

G

alanine--glyoxylate aminotransferase 2

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

NCBI chr16:20,576,661...20,617,008
Ensembl chr16:20,576,659...20,617,011

G

A-kinase anchoring protein 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:66,913,541...67,462,147
Ensembl chr 7:66,915,881...67,375,177

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Atrial fibrillation

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

G

ankyrin 2

onset

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

aminopeptidase O (putative)

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015 PMID:30061737

NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310

G

apelin

protein:decreased expression:plasma

NCBI chr X:106,236,746...106,246,563
Ensembl chr X:106,236,749...106,246,377

G

Rho GTPase activating protein 10

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:80,674,999...81,024,501
Ensembl chr 8:80,675,002...81,024,452

G

armadillo like helical domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:112,877,289...113,072,999
Ensembl chr14:112,877,308...113,072,897

G

aryl hydrocarbon receptor nuclear translocator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821

G

ataxin 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,301,013...12,457,450

G

BAG cochaperone 3

ClinVar Annotator: match by term: Atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993

G

bestrophin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,909,973...33,957,171
Ensembl chr 5:33,904,975...33,956,637

G

chromosome 6 C1orf185 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 6:160,985,550...161,098,997

G

calumenin

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,841,718...19,875,804
Ensembl chr18:19,841,719...19,875,786

G

calcium/calmodulin dependent protein kinase II delta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,915,572...109,222,905

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 chr13:68,758,739...68,787,200
Ensembl chr13:68,758,734...68,787,192

G

calsequestrin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

castor zinc finger 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357

G

caveolin 1

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:22544366 PMID:29892015

NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277

G

CD36 molecule

disease_progression

mRNA, protein:decreased expression:blood, leukocyte

NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105

G

CD40 molecule

treatment

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 1A

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

PMID:16043935 PMID:29892015

NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761

G

centrosomal protein 68

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:76,869,350...76,932,673
Ensembl chr 3:76,869,622...76,901,126

G

cofilin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991

G

component of oligomeric golgi complex 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:106,993,771...107,273,889
Ensembl chr 9:106,990,573...107,273,607

G

corin, serine peptidase

ClinVar Annotator: match by term: Atrial fibrillation

PMID:25741868 PMID:37913506

NCBI chr 8:37,530,812...37,811,226
Ensembl chr 8:37,530,815...37,809,761

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031

G

C-reactive protein, pentraxin-related

disease_progression

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

PMID:18811807 PMID:19645035

RGD:9491838 RGD:9491839

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

citrate synthase

protein:decreased expression:left cardiac atrium

NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,585...21,700,711

G

cullin 4A

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:78,557,030...78,588,964
Ensembl chr11:78,557,013...78,589,193

G

cytochrome P450 2C49

CTD Direct Evidence: marker/mechanism

NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455

G

cytohesin 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:3,356,265...3,432,644
Ensembl chr12:3,356,245...3,432,641

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423

G

diacylglycerol kinase beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:83,571,927...84,358,712
Ensembl chr 9:83,569,932...84,510,087

G

dynein axonemal heavy chain 10

CTD Direct Evidence: marker/mechanism

NCBI chr14:29,095,480...29,250,255
Ensembl chr14:29,095,490...29,249,833

G

double PHD fingers 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:95,974,422...96,254,354
Ensembl chr 7:95,982,462...96,254,318

G

endothelin 1

severity

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

PMID:16762801 PMID:22669310

NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348

G

EPH receptor A3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:166,592,492...166,942,791
Ensembl chr13:166,592,493...166,942,767

G

erb-b2 receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565

G

fibrosin like 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:22,890,052...22,977,364
Ensembl chr14:22,887,227...22,977,450

G

F-box protein 32

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:15,895,875...15,925,929
Ensembl chr 4:15,895,689...15,930,931

G

fibroblast growth factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 8:137,531,806...137,554,512
Ensembl chr 8:137,532,260...137,554,458

G

fms related receptor tyrosine kinase 1

mRNA,protein:increased expression:heart:

NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264

G

FERM domain containing 4B

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:50,602,910...50,980,236
Ensembl chr13:50,597,414...50,980,016

G

GATA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941

G

GATA binding protein 5

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

NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267

G

gap junction protein alpha 1

susceptibility

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 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Atrial fibrillation | ClinVar Annotator: match by term: Atrial fibrillation, somatic

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

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

G

G protein subunit beta 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:117,442,594...117,513,387
Ensembl chr13:117,436,673...117,513,392

G

golgi associated PDZ and coiled-coil motif containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:44,239,364...44,285,886
Ensembl chr 1:44,239,383...44,287,198

G

golgi SNAP receptor complex member 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315

G

glycoprotein VI platelet

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

NCBI chr 6:59,214,227...59,237,860
Ensembl chr 6:59,215,600...59,237,526

G

gelsolin

disease_progression

NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848

G

general transcription factor IIi

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423

G

glycophorin C (Gerbich blood group)

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:25,576,343...25,606,913
Ensembl chr15:25,576,567...25,579,306

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

ClinVar Annotator: match by term: Atrial fibrillation

PMID:23861362 PMID:24607718 PMID:25145518 PMID:25145519 PMID:25642760 More...

NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862

G

hepatocyte growth factor

protein:increased expression:serum:

NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564

G

hypoxia inducible factor 1 subunit alpha

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

NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845

G

huntingtin interacting protein 1 related

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:29,996,388...30,024,343
Ensembl chr14:29,993,655...30,024,216

G

heat shock transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:40,147,267...40,180,308
Ensembl chr 1:40,147,164...40,180,297

G

heparan sulfate proteoglycan 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:79,849,691...79,958,283
Ensembl chr 6:79,849,698...79,958,334

G

5-hydroxytryptamine receptor 4

CTD Direct Evidence: therapeutic

NCBI chr 2:149,768,295...149,813,801
Ensembl chr 2:149,731,034...149,912,495

G

insulin like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058

G

interleukin 2

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interferon regulatory factor 2 binding protein like

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,119,282...100,123,820
Ensembl chr 7:100,120,139...100,122,489

G

ISL LIM homeobox 1

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

NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907

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 chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,268,018

G

potassium voltage-gated channel subfamily A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207

G

potassium voltage-gated channel subfamily D member 3

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510

G

potassium voltage-gated channel subfamily E regulatory subunit 1

NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr13:197,979,749...197,980,974
Ensembl chr13:197,980,145...197,980,516

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

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 chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

G

potassium inwardly rectifying channel subfamily J member 5

CTD Direct Evidence: marker/mechanism

PMID:11693772 PMID:29892015 PMID:30061737

NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941

G

potassium calcium-activated channel subfamily N member 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:118,439,328...118,882,299
Ensembl chr 2:118,439,403...118,882,295

G

potassium calcium-activated channel subfamily N member 3

CTD Direct Evidence: marker/mechanism

PMID:20173747 PMID:30061737

NCBI chr 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,275

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

lysine demethylase 1B

CTD Direct Evidence: marker/mechanism

NCBI chr 7:13,846,283...13,902,912
Ensembl chr 7:13,845,942...13,901,255

G

kinesin family member 3C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:112,963,424...113,014,632
Ensembl chr 3:112,966,804...113,014,624

G

LIM homeobox 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

G

myosin-6

CTD Direct Evidence: marker/mechanism

PMID:30061737 PMID:34515533

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

G

leucine rich repeats and immunoglobulin like domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:47,909,002...48,027,396
Ensembl chr13:47,909,011...48,027,384

G

leucine rich melanocyte differentiation associated

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:77,957,833...79,051,540
Ensembl chr14:77,957,851...79,051,455

G

leucine rich repeat containing 10

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,878,652...33,880,694
Ensembl chr 5:33,879,766...33,880,602

G

microtubule associated protein tau

CTD Direct Evidence: marker/mechanism

NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373

G

methyl-CpG binding domain protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr15:3,649,859...4,096,459
Ensembl chr15:3,659,012...3,725,208

G

mex-3 RNA binding family member C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:100,678,452...100,699,277
Ensembl chr 1:100,676,660...100,699,403

G

microRNA mir-29a

disease_progression

RNA:decreased expression:blood serum (human)

NCBI chr18:18,040,032...18,040,117
Ensembl chr18:18,040,032...18,040,118

G

microRNA mir-29b-1

disease_progression

RNA:increased expression:blood serum (human)

NCBI chr18:18,039,629...18,039,709
Ensembl chr18:18,039,629...18,039,709

G

microRNA mir-30b

CTD Direct Evidence: marker/mechanism

NCBI chr 4:6,952,794...6,952,869
Ensembl chr 4:6,952,794...6,952,869

G

matrix metallopeptidase 1

protein:increased expression:papillary muscle of left ventricle

PMID:19734590 PMID:20935575

RGD:8549736 RGD:8693675

NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076

G

matrix metallopeptidase 2

NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982

G

matrix metallopeptidase 3

NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000

G

matrix metallopeptidase 9

protein:increased expression:papillary muscle of left ventricle

PMID:18194448 PMID:19734590

RGD:8547896 RGD:8549736

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

myosin heavy chain 7

ClinVar Annotator: match by term: Atrial fibrillation

NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225

G

myosin XVIIIB

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:43,467,823...43,687,729
Ensembl chr14:43,468,514...43,687,727

G

myosin IC

CTD Direct Evidence: marker/mechanism

NCBI chr12:47,691,252...47,715,670
Ensembl chr12:47,691,256...47,718,337

G

myocardin

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:56,931,628...57,029,258
Ensembl chr12:56,931,317...57,029,258

G

myotilin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089

G

myozenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:76,445,109...76,453,014
Ensembl chr14:76,444,557...76,452,799

G

myopalladin

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,283,271...71,388,591
Ensembl chr14:71,299,505...71,387,025

G

nascent polypeptide associated complex subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:22,044,569...22,058,096

G

neuron navigator 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:39,263,939...40,083,539
Ensembl chr 2:39,266,926...40,078,124

G

nebulette

CTD Direct Evidence: marker/mechanism

NCBI chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047

G

neuralized E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:114,436,887...114,515,713
Ensembl chr14:114,437,045...114,516,721

G

NK2 homeobox 5

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254

G

nuclear receptor subfamily 3 group C member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451

G

nuclear casein kinase and cyclin dependent kinase substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,398,845...66,435,548
Ensembl chr 9:66,398,227...66,435,517

G

opsin 1, short wave sensitive

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,836,453...19,839,425
Ensembl chr18:19,836,453...19,839,425

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:133,276,122...133,383,506
Ensembl chr13:133,273,112...133,389,458

G

pleckstrin homology like domain family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:39,309,701...39,319,313
Ensembl chr 5:39,291,560...39,315,615

G

pleckstrin homology like domain family B member 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:147,778,420...148,025,943
Ensembl chr13:147,778,370...147,879,794

G

paired like homeodomain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298

G

plakophilin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868

G

phospholamban

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925

G

pro-platelet basic protein

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

PMID:2946878 PMID:37294500

RGD:329901822 RGD:401794955

NCBI chr 8:70,021,468...70,022,490
Ensembl chr 8:70,021,439...70,023,964

G

PTPRF interacting protein alpha 4

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 9:113,727,857...113,777,772
Ensembl chr 9:113,727,855...113,777,766

G

protein phosphatase 2 regulatory subunit B''alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:76,945,318...77,148,521
Ensembl chr13:76,945,395...77,147,072

G

paired related homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,687...80,501,646

G

proteasome 20S subunit beta 7

CTD Direct Evidence: marker/mechanism

NCBI chr 1:265,172,257...265,235,389
Ensembl chr 1:265,172,237...265,235,387

G

parathyroid hormone

protein:increased expression:serum (human)

NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054

G

RNA binding motif protein 20

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823

G

receptor accessory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934

G

receptor accessory protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:66,966,068...67,071,200
Ensembl chr14:66,966,372...67,071,191

G

renin

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

NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658

G

roundabout guidance receptor 1

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

NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481

G

ribosomal protein L3 like

CTD Direct Evidence: marker/mechanism

NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699

G

ribosomal protein S2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107

G

Scm polycomb group protein homolog 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:169,999,763...170,189,357
Ensembl chr 6:169,999,792...170,189,353

G

sodium voltage-gated channel alpha subunit 10

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr13:23,481,537...23,570,454
Ensembl chr13:23,481,255...23,570,379

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

selectin E

CTD Direct Evidence: marker/mechanism

NCBI chr 4:81,289,061...81,299,657

G

sarcoglycan alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600

G

SH3 and PX domains 2A

CTD Direct Evidence: marker/mechanism

NCBI chr14:114,515,459...114,777,251
Ensembl chr14:114,519,928...114,777,238

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297

G

solute carrier family 27 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr 2:131,749,759...131,848,278
Ensembl chr 2:131,750,473...131,814,410

G

solute carrier family 35 member F1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,653,453...44,057,851
Ensembl chr 1:43,653,460...43,837,390

G

solute carrier family 9 member B1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:118,052,091...118,134,685
Ensembl chr 8:118,052,500...118,155,396

G

slit guidance ligand 2

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

NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,148,133

G

slit guidance ligand 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr16:54,551,536...55,221,427
Ensembl chr16:54,553,426...55,220,296

G

SMAD family member 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:98,512,800...98,543,924
Ensembl chr 1:98,514,267...98,542,382

G

small nuclear ribonucleoprotein U4/U6.U5 subunit 27

CTD Direct Evidence: marker/mechanism

NCBI chr 3:72,556,127...72,566,023
Ensembl chr 3:72,556,367...72,565,948

G

syntrophin alpha 1

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187

G

superoxide dismutase 1

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

NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655

G

SRY-box transcription factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,882,840...52,885,785

G

SRY-box transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 5:49,159,950...50,166,463
Ensembl chr 5:49,504,551...50,161,558

G

spermatogenesis associated serine rich 2 like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:103,879,416...104,060,525
Ensembl chr15:103,879,356...104,060,524

G

sarcospan

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:47,566,266...47,609,330
Ensembl chr 5:47,548,314...47,609,304

G

Sad1 and UNC84 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:485,980...532,974
Ensembl chr 3:486,021...530,869

G

spectrin repeat containing nuclear envelope protein 2

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015

NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354

G

synaptopodin 2 like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:76,456,170...76,466,661
Ensembl chr14:76,456,168...76,466,641

G

T-box transcription factor 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,774,171...37,825,401

G

tissue factor pathway inhibitor

mRNA,protein:decreased expression:endocardium:

NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905

G

transforming growth factor beta 1

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

NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046

G

thyroid hormone receptor beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:10,900,716...11,360,587
Ensembl chr13:10,900,724...11,359,544

G

toll like receptor 2

protein:increased expression:monocyte:

NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330

G

tumor necrosis factor

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

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415

G

TNF superfamily member 12

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,843,026...52,853,328
Ensembl chr12:52,843,026...52,853,325

G

titin

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr15:84,226,953...84,501,320

G

tubulin alpha 8

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970

G

ubiquitination factor E4B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:70,345,789...70,462,434
Ensembl chr 6:70,345,813...70,462,434

G

ubiquitin specific peptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447

G

ubiquitin specific peptidase 34

CTD Direct Evidence: marker/mechanism

NCBI chr 3:80,330,896...80,589,514
Ensembl chr 3:80,370,691...80,587,761

G

uronyl 2-sulfotransferase

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:16,840,422...17,138,088
Ensembl chr 1:16,840,533...17,138,392

G

vascular endothelial growth factor A

mRNA,protein:increased expression:heart:

NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366

G

von Willebrand factor

treatment

CTD Direct Evidence: marker/mechanism

PMID:17890461 PMID:21497043

NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,517,555...64,655,938

G

WD repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:6,413,338...6,452,383
Ensembl chr 8:6,413,347...6,452,346

G

WAS/WASL interacting protein family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:80,521,032...80,646,462

G

Wnt family member 8A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:140,103,322...140,113,682
Ensembl chr 2:140,103,830...140,109,862

G

exportin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327

G

exportin 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:6,188,040...6,280,034
Ensembl chr14:6,187,631...6,280,045

G

xyloside xylosyltransferase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr13:132,066,896...132,269,986
Ensembl chr13:132,066,884...132,269,965

G

zinc finger homeobox 3

CTD Direct Evidence: marker/mechanism

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

NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270

G

zinc finger protein 462

CTD Direct Evidence: marker/mechanism

NCBI chr 1:248,029,136...248,181,792
Ensembl chr 1:248,031,631...248,179,784

G

zona pellucida binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,454,974...22,462,918
Ensembl chr12:22,454,186...22,462,913

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 chr16:51,225,719...51,260,712

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 chr16:51,126,922...51,140,389
Ensembl chr16:51,126,926...51,140,394

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 chr16:51,146,015...51,210,806
Ensembl chr16:51,150,560...51,226,212

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 chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086

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 chr16:51,283,763...51,403,513
Ensembl chr16:51,285,493...51,330,169

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 chr16:51,536,564...51,581,072
Ensembl chr16:51,536,573...51,581,126

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 chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162

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 chr16:51,267,492...51,276,692
Ensembl chr16:51,267,479...51,276,696

G

SH3 and PX domains 2B

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

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

NCBI chr16:51,733,170...51,858,774
Ensembl chr16:51,733,135...51,858,772

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 chr16:50,989,676...51,001,412
Ensembl chr16:50,989,433...51,004,481

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:20818502 PMID:21921585 PMID:22199024 More...

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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

NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405

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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794

G

lamin A/C

ClinVar Annotator: match by term: AV block

PMID:17377071 PMID:23183350 PMID:24033266 PMID:25741868 PMID:26467025 More...

NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

myosin-6

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

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

G

NK2 homeobox 5

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

NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

transient receptor potential cation channel subfamily M member 4

CTD Direct Evidence: marker/mechanism

PMID:32681584 PMID:33959666

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

G

acetyl-CoA acyltransferase 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,964,844...23,020,138
Ensembl chr13:22,964,875...23,020,143

G

activin A receptor type 2B

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373

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 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839

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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

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 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

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 chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111

G

CTD small phosphatase like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,707,736...22,828,773
Ensembl chr13:22,707,444...22,825,400

G

DLEC1 cilia and flagella associated protein

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,873,210...22,964,971
Ensembl chr13:22,882,629...22,964,677

G

dystrophin

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

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

NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840

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 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

G

exo/endonuclease G

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,278,458...23,330,540
Ensembl chr13:23,278,932...23,307,566

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 chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

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

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

NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689

G

hes related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

G

integrin subunit alpha 9

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,298,497...22,655,717
Ensembl chr13:22,268,503...22,655,704

G

potassium voltage-gated channel subfamily D member 3

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510

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 chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296

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:25741881 More...

NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494

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:89,741,187...89,742,732
Ensembl chr X:89,741,190...89,742,672

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

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 chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532 PMID:28986455

NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365

G

myosin-6

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

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

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

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:21750094 More...

NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

G

myosin binding protein H like

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28778945 PMID:35533732

NCBI chr 4:110,792,628...110,809,479
Ensembl chr 4:110,793,408...110,808,248

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109

G

oxidative stress responsive kinase 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,020,839...23,116,957
Ensembl chr13:23,020,530...23,116,958

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 chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868

G

phospholipase C delta 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,851,581...22,872,950
Ensembl chr13:22,851,584...22,872,992

G

ryanodine receptor 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

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

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

NCBI chr13:23,481,537...23,570,454
Ensembl chr13:23,481,255...23,570,379

G

sodium voltage-gated channel alpha subunit 11

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,602,378...23,692,281
Ensembl chr13:23,602,977...23,692,220

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481

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 chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,880...50,583,712

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

solute carrier family 22 member 13

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,120,013...23,129,183
Ensembl chr13:23,120,222...23,130,829

G

solute carrier family 22 member 14

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,148,924...23,162,263
Ensembl chr13:23,149,231...23,159,598

G

sarcolemma associated protein

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

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

NCBI chr13:39,571,930...39,720,229
Ensembl chr13:39,571,981...39,719,923

G

syntrophin alpha 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:26220970 PMID:28492532

NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187

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 chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723

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 chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722

G

transforming growth factor beta 3

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532

NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232

G

transient receptor potential cation channel subfamily M member 4

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

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

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 chr15:84,226,953...84,501,320

G

transthyretin

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

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

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

G

villin like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:22,831,867...22,851,282
Ensembl chr13:22,831,915...22,851,275

G

xylulokinase

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr13:23,173,855...23,225,583
Ensembl chr13:23,173,939...23,225,951

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 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

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 PMID:35470684 More...

NCBI chr 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

G

desmoplakin

ClinVar Annotator: match by term: Brugada syndrome 1

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

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

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 chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649

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 chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

G

potassium inwardly rectifying channel subfamily J member 16

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr12:10,393,172...10,538,423
Ensembl chr12:10,393,179...10,558,169

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 chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813

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 chr13:23,481,537...23,570,454
Ensembl chr13:23,481,255...23,570,379

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

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

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612

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 | ClinVar Annotator: match by term: GPD1L-related condition

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

NCBI chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666

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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

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 chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

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 chr 6:45,384,955...45,390,247
Ensembl chr 6:45,384,957...45,390,244

G

amyloid beta precursor like protein 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,285,698...45,295,355
Ensembl chr 6:45,285,718...45,295,350

G

Rho GTPase activating protein 33

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,198,657...45,213,655
Ensembl chr 6:45,199,456...45,213,653

G

ATPase H+/K+ transporting subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,984,014...45,057,796
Ensembl chr 6:44,984,233...44,997,552

G

calpain small subunit 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,511,410...45,518,610
Ensembl chr 6:45,511,295...45,518,610

G

CD22 molecule

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,820,593...44,834,392
Ensembl chr 6:44,820,689...44,834,389

G

CAP-Gly domain containing linker protein 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,390,656...45,418,866
Ensembl chr 6:45,390,659...45,405,655

G

COX6B protein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,091,829...45,102,785
Ensembl chr 6:45,091,895...45,102,669

G

cytochrome c oxidase subunit 7A1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,519,225...45,520,721
Ensembl chr 6:45,517,229...45,520,713

G

dermokine

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,942,067...44,957,192
Ensembl chr 6:44,942,782...44,955,105

G

ETS variant transcription factor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,085,984...45,089,592
Ensembl chr 6:45,087,100...45,089,626

G

family with sequence similarity 187 member B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,742,210...44,759,463
Ensembl chr 6:44,742,213...44,746,980

G

free fatty acid receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,837,764...44,841,518

G

free fatty acid receptor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,899,879...44,904,461
Ensembl chr 6:44,901,159...44,904,459

G

free fatty acid receptor 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,844,149...44,845,172

G

FXYD domain containing ion transport regulator 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,647,771...44,654,377
Ensembl chr 6:44,647,466...44,654,374

G

FXYD domain containing ion transport regulator 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,682,245...44,696,088

G

FXYD domain containing ion transport regulator 7

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,668,591...44,681,846

G

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,968,965...44,978,992
Ensembl chr 6:44,969,139...44,979,166

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,160...44,787,305

G

HAUS augmin like complex subunit 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,057,801...45,071,604
Ensembl chr 6:45,057,837...45,071,611

G

hematopoietic cell signal transducer

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,304,744...45,309,048

G

hepsin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,608,076...44,628,044
Ensembl chr 6:44,608,071...44,628,049

G

heat shock protein family B (small) member 6

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,181,439...45,184,011
Ensembl chr 6:45,181,443...45,183,998

G

IGF like family receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,167,556...45,169,923

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,275,737...45,284,096
Ensembl chr 6:45,275,716...45,284,444

G

lysine methyltransferase 2B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,146,863...45,166,854
Ensembl chr 6:45,147,566...45,166,852

G

keratinocyte differentiation associated protein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,932,195...44,935,921
Ensembl chr 6:44,932,195...44,935,353

G

leucine rich repeat LGI family member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,655,621...44,663,874
Ensembl chr 6:44,655,619...44,663,234

G

lin-37 DREAM MuvB core complex component

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,175,454...45,181,383
Ensembl chr 6:45,175,500...45,181,391

G

leucine rich repeat and fibronectin type III domain containing 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,343,846...45,352,779
Ensembl chr 6:45,346,637...45,351,990

G

lipolysis stimulated lipoprotein receptor

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,759,091...44,773,378
Ensembl chr 6:44,759,073...44,773,379

G

myelin associated glycoprotein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,794,197...44,809,933
Ensembl chr 6:44,794,204...44,809,926

G

NFKB inhibitor delta

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,298,289...45,307,471
Ensembl chr 6:45,298,288...45,306,316

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,248,325...45,271,892
Ensembl chr 6:45,248,325...45,274,577

G

ovo like zinc finger 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,477,261...45,480,822
Ensembl chr 6:45,478,098...45,480,786

G

RNA polymerase II subunit I

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,480,785...45,482,318
Ensembl chr 6:45,479,555...45,481,990

G

proline dehydrogenase 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,213,712...45,240,437

G

proline and serine rich 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,184,765...45,195,052
Ensembl chr 6:45,184,499...45,195,058

G

presenilin enhancer, gamma-secretase subunit

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,171,825...45,174,112
Ensembl chr 6:45,171,825...45,174,102

G

RNA binding motif protein 42

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,074,527...45,083,124
Ensembl chr 6:45,074,540...45,083,239

G

suprabasin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,960,693...44,966,592
Ensembl chr 6:44,960,699...44,966,390

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 chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481

G

succinate dehydrogenase complex assembly factor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,374,714...45,376,346
Ensembl chr 6:45,375,288...45,377,965

G

spectrin repeat containing nuclear envelope family member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671

G

tubulin folding cofactor B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,482,542...45,492,627
Ensembl chr 6:45,482,371...45,492,627

G

THAP domain containing 8

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,407,145...45,418,848
Ensembl chr 6:45,406,742...45,418,856

G

transmembrane protein 147

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,979,195...44,981,051
Ensembl chr 6:44,979,190...44,981,049

G

transmembrane immune signaling adaptor TYROBP

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,309,199...45,312,562
Ensembl chr 6:45,309,201...45,312,539

G

U2 small nuclear RNA auxiliary factor 1 like 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,167,556...45,172,382
Ensembl chr 6:45,168,927...45,172,305

G

uroplakin 1A

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,105,118...45,113,631
Ensembl chr 6:45,104,021...45,114,122

G

upstream transcription factor 2, c-fos interacting

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:44,774,417...44,783,594
Ensembl chr 6:44,774,008...44,783,592

G

WD repeat domain 62

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,418,966...45,477,619
Ensembl chr 6:45,419,015...45,474,050

G

zinc finger and BTB domain containing 32

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 6:45,140,573...45,145,903
Ensembl chr 6:45,142,262...45,145,898

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 | ClinVar Annotator: match by term: KCNE3-related condition

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

NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494

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 chr 9:8,838,375...8,840,607
Ensembl chr 9:8,838,102...8,840,765

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 | ClinVar Annotator: match by term: SCN3B-related condition

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

NCBI chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,880...50,583,712

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 chr 7:60,584,038...60,623,898
Ensembl chr 7:60,584,051...60,623,929

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,932,450...58,998,707
Ensembl chr 7:58,932,461...58,998,711

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334

G

coiled-coil domain containing 33

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,188,624...59,224,071
Ensembl chr 7:59,190,179...59,290,877

G

CD276 molecule

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,703,283...59,733,910
Ensembl chr 7:59,703,289...59,733,777

G

CDC like kinase 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,895,407...58,909,616
Ensembl chr 7:58,895,419...58,909,551

G

complexin 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,712,743...58,717,028
Ensembl chr 7:58,712,744...58,716,997

G

C-terminal Src kinase

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260

G

cytochrome P450 family 11 subfamily A member 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478

G

cytochrome P450 family 1 subfamily A member 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 family 1 subfamily A member 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,828,693...58,895,475
Ensembl chr 7:58,828,727...58,897,919

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 chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,663,878...59,680,847
Ensembl chr 7:59,665,735...59,677,104

G

immunoglobulin superfamily containing leucine rich repeat

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,349,674...59,352,936
Ensembl chr 7:59,349,675...59,352,839

G

immunoglobulin superfamily containing leucine rich repeat 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,385,021...59,393,185
Ensembl chr 7:59,386,241...59,388,481

G

lectin, mannose binding 1 like

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,717,159...58,730,752
Ensembl chr 7:58,717,821...58,730,172

G

lysyl oxidase like 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,657,960...58,666,803
Ensembl chr 7:58,657,662...58,666,929

G

neogenin 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562

G

neuroplastin

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,768,414...59,840,594
Ensembl chr 7:59,714,080...59,840,591

G

PML nuclear body scaffold

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,833,229...59,941,452
Ensembl chr 7:59,838,480...59,941,418

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,672,638...58,699,145
Ensembl chr 7:58,672,664...58,699,142

G

semaphorin 7A (JohnMiltonHagen blood group)

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,094,919...59,119,534
Ensembl chr 7:59,094,932...59,119,532

G

stomatin like 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,448,500...59,461,208
Ensembl chr 7:59,452,176...59,461,206

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,011...59,347,266

G

TBC1 domain family member 21

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,535,023...59,549,720
Ensembl chr 7:59,535,593...59,548,888

G

transmembrane protein 202

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:60,853,877...60,865,688
Ensembl chr 7:60,854,316...60,885,284

G

ubiquitin like 7

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:59,070,666...59,084,119
Ensembl chr 7:59,070,728...59,084,112

G

unc-51 like kinase 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 7:58,699,989...58,707,191
Ensembl chr 7:58,699,984...58,707,187

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

NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:25741868 PMID:28492532

NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365

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 chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

G

ankyrin 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:17242276 More...

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

calsequestrin 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27114410 PMID:28492532

NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

dystrophin

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:28492532

NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840

G

desmoglein 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340

G

desmoplakin

ClinVar Annotator: match by term: cardiac conduction defect

PMID:20857253 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More...

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

G

junction plakoglobin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

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 chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

G

myosin heavy chain 7

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225

G

NK2 homeobox 5

NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162

G

plakophilin 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868

G

RNA binding motif protein 20

ClinVar Annotator: match by term: cardiac conduction defect

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823

G

ryanodine receptor 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:12459180 PMID:19926015 PMID:21964171 PMID:23204524 PMID:23396983 More...

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

G

transthyretin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

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

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

TNNI3 interacting kinase

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 6:138,634,770...138,914,194
Ensembl chr 6:138,634,274...138,914,115

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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

G

ankyrin 2

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

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

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

calcium voltage-gated channel subunit alpha1 C

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

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

NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

G

calmodulin 1

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

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

NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744

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

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

NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

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 chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

G

FKBP prolyl isomerase 1B

NCBI chr 3:114,623,529...114,636,200
Ensembl chr 3:114,623,532...114,634,628

G

kelch like family member 8

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 8:131,634,171...131,701,161
Ensembl chr 8:131,634,209...131,700,068

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 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

metallothionein-1E

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 6:18,650,985...18,652,317

G

5-methyltetrahydrofolate-homocysteine methyltransferase

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

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 chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

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:2623051 PMID:9536098 PMID:11078270 More...

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

trans-2,3-enoyl-CoA reductase like

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 8:62,542,452...62,646,084
Ensembl chr 8:62,539,800...62,645,996

G

triadin

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

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

NCBI chr 1:39,180,544...39,567,245
Ensembl chr 1:39,180,913...39,567,240

G

transient receptor potential cation channel subfamily M member 4

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

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

G

titin

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr15:84,226,953...84,501,320

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 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775

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 chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778

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 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

ATPase Na+/K+ transporting subunit alpha 1

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

NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,680

G

calmodulin 1

ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1

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

NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744

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

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

NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

DM1 protein kinase

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

NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,259...52,110,478

G

desmoglein 2

ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY

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

NCBI chr 6:115,400,223...115,453,763
Ensembl chr 6:115,400,243...115,454,340

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

G

potassium voltage-gated channel subfamily H member 2

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

NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

G

laminin subunit alpha 4

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

NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365

G

lamin A/C

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY

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

NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

mab-21 like 3

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

NCBI chr 4:104,572,922...104,651,287
Ensembl chr 4:104,599,818...104,625,234

G

metallothionein-1E

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

NCBI chr 6:18,650,985...18,652,317

G

5-methyltetrahydrofolate-homocysteine methyltransferase

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

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

G

myosin binding protein C3

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

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

NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

G

nescient helix-loop-helix 2

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

NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042

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: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
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 chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

solute carrier family 22 member 15

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

NCBI chr 4:104,662,844...104,755,667
Ensembl chr 4:104,664,015...104,755,672

G

TNNI3 interacting kinase

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

NCBI chr 6:138,634,770...138,914,194
Ensembl chr 6:138,634,274...138,914,115

G

tropomyosin 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035

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

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

NCBI chr 1:39,180,544...39,567,245
Ensembl chr 1:39,180,913...39,567,240

G

transient receptor potential cation channel subfamily M member 4

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

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775

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 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

ryanodine receptor 2

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

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

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 4:104,994,341...105,048,853
Ensembl chr 4:104,996,073...105,048,775

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 8:62,542,452...62,646,084
Ensembl chr 8:62,539,800...62,645,996

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 chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744

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: TRDN-related condition | 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 1:39,180,544...39,567,245
Ensembl chr 1:39,180,913...39,567,240

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 chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

G

GATA binding protein 5

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

NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:12522116 PMID:25741868 PMID:28492532

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr13:197,979,749...197,980,974
Ensembl chr13:197,980,145...197,980,516

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365

G

myosin light chain 4

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:27066836 PMID:28492532 PMID:29080865

NCBI chr12:16,774,655...16,792,213
Ensembl chr12:16,775,471...16,792,213

G

NK2 homeobox 6

susceptibility

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

NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645

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 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298

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:235504 PMID:291807 PMID:461398 PMID:748006 PMID:1309946 More...

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

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:23861362 More...

NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

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 chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481

Familial Atrial Fibrillation 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

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

NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544

G

archain 1

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

NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613

G

ATP synthase membrane subunit g

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

NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036

G

BCL9 like

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

NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589

G

C2CD2 like

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

NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078

G

Cbl proto-oncogene

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

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

CD3 delta subunit of T-cell receptor complex

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

NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221

G

CD3 epsilon subunit of T-cell receptor complex

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

NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968

G

CD3 gamma subunit of T-cell receptor complex

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

NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745

G

centrosomal AT-AC splicing factor

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

NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433

G

C-X-C motif chemokine receptor 5

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

NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636

G

DEAD-box helicase 6

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

NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

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

NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858

G

dynein regulatory complex subunit 12 homolog

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

NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758

G

forkhead box R1

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

NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078

G

H2A.X variant histone

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

NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084

G

histone H4 transcription factor

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

NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353

G

hydroxymethylbilane synthase

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

NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868

G

hypoxia up-regulated 1

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

NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995

G

intraflagellar transport 46

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

NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879

G

junction adhesion molecule like

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

NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863

G

lysine methyltransferase 2A

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

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

myelin protein zero like 2

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

NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185

G

myelin protein zero like 3

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

NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194

G

NHERF family PDZ scaffold protein 4

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

NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219

G

NLR family member X1

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

NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983

G

pleckstrin homology like domain family B member 1

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

NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415

G

ribosomal protein S25

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

NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432

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 chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465

G

sodium voltage-gated channel beta subunit 4

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

NCBI chr 9:45,451,473...45,475,606

G

solute carrier family 37 member 4

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

NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,282...46,254,031

G

transmembrane protein 25

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

NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972

G

trafficking protein particle complex subunit 4

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

NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343

G

trehalase

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

NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341

G

tetratricopeptide repeat domain 36

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

NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979

G

ubiquitination factor E4A

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

NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810

G

uroplakin 2

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

NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735

G

VPS11 core subunit of CORVET and HOPS complexes

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

NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474

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 | ClinVar Annotator: match by term: NUP155-related condition

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

NCBI chr16:22,520,443...22,590,119
Ensembl chr16:22,516,990...22,589,838

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 chr 9:45,451,473...45,475,606

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 chr12:16,774,655...16,792,213
Ensembl chr12:16,775,471...16,792,213

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

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 | ClinVar Annotator: match by term: KCNE2-related condition

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

NCBI chr13:197,979,749...197,980,974
Ensembl chr13:197,980,145...197,980,516

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 6:71,825,319...71,836,812

G

angiopoietin like 7

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

NCBI chr 6:71,350,872...71,356,299
Ensembl chr 6:71,350,033...71,356,662

G

castor zinc finger 1

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

NCBI chr 6:70,876,329...71,029,495
Ensembl chr 6:70,878,983...70,933,357

G

chloride voltage-gated channel 6

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

NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029

G

dispatched RND transporter family member 3

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

NCBI chr 6:71,583,818...71,640,945
Ensembl chr 6:71,583,818...71,640,940

G

dorsal inhibitory axon guidance protein

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

NCBI chr 6:71,786,806...71,814,946
Ensembl chr 6:71,786,800...71,814,679

G

exosome component 10

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

NCBI chr 6:71,258,988...71,282,802
Ensembl chr 6:71,258,999...71,282,433

G

F-box protein 2

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

NCBI chr 6:71,740,647...71,747,265
Ensembl chr 6:71,740,677...71,748,923

G

F-box protein 44

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

NCBI chr 6:71,747,210...71,754,519
Ensembl chr 6:71,743,261...71,774,223

G

F-box protein 6

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

NCBI chr 6:71,755,335...71,774,264
Ensembl chr 6:71,768,498...71,774,243

G

KIAA2013

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

NCBI chr 6:71,976,011...71,981,674
Ensembl chr 6:71,976,019...71,981,673

G

uncharacterized protein C1orf167

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

NCBI chr 6:71,849,204...71,866,887

G

mitotic arrest deficient 2 like 2

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

NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,154...71,786,517

G

MBL associated serine protease 2

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

NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874

G

methylenetetrahydrofolate reductase

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

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

mechanistic target of rapamycin kinase

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

NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888

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 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405

G

natriuretic peptide B

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

NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

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

NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804

G

spermidine synthase

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

NCBI chr 6:71,246,895...71,253,534
Ensembl chr 6:71,246,876...71,253,508

G

TAR DNA binding protein

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

NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704

G

UbiA prenyltransferase domain containing 1

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

NCBI chr 6:71,419,559...71,431,275
Ensembl chr 6:71,419,602...71,433,210

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

PMID:21858020 PMID:28492532

NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116

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 chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207

Familial Atrial Fibrillation 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger homeobox 3

susceptibility

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

NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270

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 chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

first-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 7

ClinVar Annotator: match by term: First degree atrioventricular block

PMID:21127202 PMID:24033266 PMID:24714796 PMID:25163546 PMID:25741868 More...

NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225

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: CALM3-related condition | ClinVar Annotator: match by term: Long QT syndrome 16

PMID:9536098 PMID:17576681 PMID:23388215 PMID:24563457 PMID:24816216 More...

NCBI chr 6:52,506,979...52,516,704
Ensembl chr 6:52,506,674...52,516,703

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 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696

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 PMID:35470684 More...

NCBI chr 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

PMID:14731347 PMID:19841300 PMID:23098067 PMID:25348405 PMID:25741868 More...

NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

MIB E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

NCBI chr 6:106,917,995...107,043,144
Ensembl chr 6:106,917,718...107,040,079

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 chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

G

transcription factor 21

susceptibility

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

NCBI chr 1:29,975,280...29,978,273
Ensembl chr 1:29,975,280...29,978,255

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 chr13:68,758,739...68,787,200
Ensembl chr13:68,758,734...68,787,192

G

C-reactive protein, pentraxin-related

no_association

NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218

G

glutathione peroxidase 3

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

NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026

G

gelsolin

susceptibility

DNA:SNP:: (rs2230287) (human)

NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848

G

interleukin 6

disease_progression

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

serpin family E member 1

protein:increased expression:plasma (human)

NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547

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 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

desmoplakin

ClinVar Annotator: match by term: Progressive familial heart block

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

G

sodium voltage-gated channel alpha subunit 5

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

PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More...

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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:25741868 More...

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

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:235504 PMID:291807 PMID:461398 PMID:748006 More...

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

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:235504 PMID:291807 PMID:461398 PMID:748006 More...

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

progressive familial heart block type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycogen synthase 1

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

NCBI chr 6:54,234,600...54,250,211
Ensembl chr 6:54,233,050...54,250,261

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

G

potassium voltage-gated channel subfamily A member 7

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

NCBI chr 6:54,276,596...54,283,891
Ensembl chr 6:54,278,887...54,282,209

G

luteinizing hormone subunit beta

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

NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086

G

lin-7 homolog B, crumbs cell polarity complex component

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

NCBI chr 6:54,309,552...54,313,138
Ensembl chr 6:54,309,535...54,313,135

G

neurotrophin 4

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

NCBI chr 6:54,271,244...54,288,846
Ensembl chr 6:54,271,246...54,274,092

G

PTPRF interacting protein alpha 3

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

NCBI chr 6:54,313,981...54,337,345
Ensembl chr 6:54,313,981...54,337,338

G

RuvB like AAA ATPase 2

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

NCBI chr 6:54,250,494...54,263,492
Ensembl chr 6:54,250,515...54,266,893

G

small nuclear ribonucleoprotein U1 subunit 70

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

NCBI chr 6:54,288,354...54,304,272
Ensembl chr 6:54,288,397...54,304,103

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 disorder

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

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

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 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Short QT Syndrome 5

PMID:25741868 PMID:28492532

NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

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 chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

G

vinculin

ClinVar Annotator: match by term: Short QT syndrome

NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869

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: Short QT syndrome type 1

PMID:260666 PMID:805146 PMID:2294929 PMID:7889573 PMID:8700910 More...

NCBI chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

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:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More...

NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

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 PMID:30420954 PMID:31315195 More...

NCBI chr15:121,629,794...121,643,554
Ensembl chr15:121,630,316...121,643,539

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 chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833

G

ankyrin 2

susceptibility

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

calcium voltage-gated channel subunit alpha1 D

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662

G

coronin 1A

ClinVar Annotator: match by term: Sinus node disease

NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396

G

hyperpolarization activated cyclic nucleotide gated potassium channel 1

OMIM:163800 | OMIM:608567 | OMIM:614090

NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993

G

potassium inwardly rectifying channel subfamily J member 5

CTD Direct Evidence: therapeutic

NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941

G

lamin A/C

ClinVar Annotator: match by term: Sick sinus syndrome

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

NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

myosin-6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

syntrophin alpha 1

ClinVar Annotator: match by term: Sick sinus syndrome

PMID:25741868 PMID:28492532

NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187

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: Familial sick sinus syndrome | 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
ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive

PMID:235469 PMID:235504 PMID:291807 PMID:461398 PMID:748006 More...

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689

Sick Sinus Syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin-6

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

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

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

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 3:8,579,037...8,585,268
Ensembl chr 3:8,579,122...8,584,266

sinoatrial node disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 2

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

coronin 1A

ClinVar Annotator: match by term: Sinoatrial node disease

NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

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 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

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 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969

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 chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425

G

dystrophin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr X:27,028,223...29,650,728
Ensembl chr X:27,028,231...28,383,840

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 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

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 chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666

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 chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689

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 chr 6:54,337,348...54,341,638
Ensembl chr 6:54,337,347...54,341,625

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 chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296

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:25741881 More...

NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494

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:89,741,187...89,742,732
Ensembl chr X:89,741,190...89,742,672

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

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 chr 5:51,695,927...51,704,402
Ensembl chr 5:51,696,188...51,703,813

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

myosin-6

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

G

myosin binding protein C3

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

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 chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868

G

sodium voltage-gated channel alpha subunit 10

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:9536098 PMID:12097481 PMID:16199547 PMID:17576681 PMID:23115331 More...

NCBI chr13:23,481,537...23,570,454
Ensembl chr13:23,481,255...23,570,379

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 chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,880...50,583,712

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

G

sarcolemma associated protein

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

NCBI chr13:39,571,930...39,720,229
Ensembl chr13:39,571,981...39,719,923

G

syntrophin alpha 1

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

PMID:26220970 PMID:28492532

NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187

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 chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723

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 chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722

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 chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

G

titin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr15:84,226,953...84,501,320

G

transthyretin

ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome

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

NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977

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 chr 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 1:13,715,644...14,201,711

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

G

titin

ClinVar Annotator: match by term: Third degree atrioventricular block

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31251381 More...

NCBI chr15:84,226,953...84,501,320

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Third degree atrioventricular block

NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792

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 chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,691,595

G

actin alpha cardiac muscle 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547

G

actinin alpha 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:22584458 PMID:28492532 PMID:32233023

NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897

G

ankyrin 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28191889 PMID:28492532 PMID:32233023

NCBI chr 8:109,306,793...109,661,970
Ensembl chr 8:109,306,797...109,912,908

G

bone morphogenetic protein receptor type 1A

OMIM:194200

NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790

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 chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319

G

calsequestrin 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18684293 PMID:21618644 PMID:28492532 PMID:32693635

NCBI chr 4:104,918,204...104,984,019
Ensembl chr 4:104,918,221...104,984,020

G

dipeptidyl peptidase like 6

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr18:3,148,479...3,905,845
Ensembl chr18:3,148,483...4,054,118

G

desmoplakin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623

G

filamin A

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992

G

filamin C

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618

G

folliculin interacting protein 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 2:133,958,112...134,093,408
Ensembl chr 2:133,957,553...134,093,413

G

gap junction protein alpha 5

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286

G

glycerol-3-phosphate dehydrogenase 1 like

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532

NCBI chr13:18,126,471...18,176,669
Ensembl chr13:18,127,088...18,176,666

G

junction plakoglobin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:27532257 PMID:28492532 PMID:31983221 PMID:32233023

NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210

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 chr18:6,242,826...6,279,154
Ensembl chr18:6,243,524...6,279,111

G

potassium inwardly rectifying channel subfamily J member 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr12:10,351,959...10,380,631
Ensembl chr12:10,351,699...10,362,244

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 chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23861362 PMID:28492532 PMID:30847666

NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365

G

laminin subunit gamma 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 9:124,283,668...124,405,967
Ensembl chr 9:124,283,224...124,405,964

G

lamin A/C

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28663758 PMID:31383942

NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320

G

myosin-6

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:15998695 PMID:20215591 PMID:22194935 PMID:22361390 PMID:23299917 More...

NCBI chr 7:75,677,666...75,704,486
Ensembl chr 7:75,676,791...75,704,644

G

mitogen-activated protein kinase kinase kinase 7

OMIM:194200

NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057

G

myosin binding protein C3

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:16858239 PMID:17192269 PMID:18533079 PMID:19150014 PMID:20031602 More...

NCBI chr 2:15,247,679...15,269,714
Ensembl chr 2:15,247,340...15,270,104

G

myosin heavy chain 11

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095

G

myosin heavy chain 7

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:12749056 More...

NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225

G

nudE neurodevelopment protein 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623

G

nebulette

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr10:53,602,929...53,957,869
Ensembl chr10:53,602,936...53,958,047

G

nodal growth differentiation factor

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:19064609 PMID:25741868 PMID:28492532

NCBI chr14:73,350,358...73,357,064
Ensembl chr14:73,353,258...73,360,654

G

paired like homeodomain 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298

G

PR/SET domain 16

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570

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 chr18:5,475,077...5,744,761
Ensembl chr18:5,475,077...5,744,657

G

RNA binding motif protein 20

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823

G

rhomboid 5 homolog 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 3:41,548,440...41,567,596
Ensembl chr 3:41,560,915...41,567,593

G

ryanodine receptor 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:24033266 PMID:24558114 PMID:25041964 PMID:25467552 PMID:25637381 More...

NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063

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 chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755

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 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062

G

syntrophin alpha 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23631430 PMID:28492532

NCBI chr17:36,917,276...36,946,232
Ensembl chr17:36,915,953...36,946,187

G

T-box transcription factor 20

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133

G

T-box transcription factor 5

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,774,171...37,825,401

G

titin-cap

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:28771489 PMID:32233023

NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722

G

transforming growth factor beta receptor 2

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:18781618 PMID:27879313 PMID:28492532

NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:9241277 PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 More...

NCBI chr 6:59,366,828...59,377,490
Ensembl chr 6:59,371,080...59,377,734
Ensembl chr 6:59,371,080...59,377,734

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:26467025 PMID:28492532

NCBI chr 6:59,351,445...59,365,584
Ensembl chr 6:59,347,582...59,365,284

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 chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396

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 chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155

G

tetratricopeptide repeat domain 39A

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 6:160,806,634...160,854,498
Ensembl chr 6:160,806,629...160,854,489

G

titin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:31983221 More...

NCBI chr15:84,226,953...84,501,320

G

vinculin

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

PMID:25741868 PMID:28492532 PMID:32233023

NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869

G

WW domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Wolff-Parkinson-White pattern

NCBI chr 4:50,370,072...50,509,314
Ensembl chr 4:50,388,464...50,503,253

Term paths to the root

Path 1
Term	Annotations
disease	15433
disease of anatomical entity	15103
thoracic disease	3756
heart disease	3202
heart conduction disease	460
Brugada syndrome +	152
Wolff-Parkinson-White syndrome	52
atrial fibrillation +	265
atrial standstill 1	3
atrial standstill 2	1
atrioventricular block +	32
catecholaminergic polymorphic ventricular tachycardia +	31
left bundle branch hemiblock	0
postural orthostatic tachycardia syndrome	0
progressive familial heart block +	13
right bundle branch block +	0
short QT syndrome +	9
sinoatrial node disease +	13
Path 2
Term	Annotations
disease	15433
disease of anatomical entity	15103
respiratory system disease	4884
thoracic disease	3756
heart disease	3202
heart conduction disease	460
Brugada syndrome +	152
Wolff-Parkinson-White syndrome	52
atrial fibrillation +	265
atrial standstill 1	3
atrial standstill 2	1
atrioventricular block +	32
catecholaminergic polymorphic ventricular tachycardia +	31
left bundle branch hemiblock	0
postural orthostatic tachycardia syndrome	0
progressive familial heart block +	13
right bundle branch block +	0
short QT syndrome +	9
sinoatrial node disease +	13

paths to the root