heart conduction disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	heart conduction disease	go back to main search page
Accession:	DOID:10273	browse the term
Definition:	A cardiovascular system disease that involves the heart's electrical conduction system. (DO)
Synonyms:	exact_synonym:	conduction system disorder; heart rhythm disease
	xref:	EFO:0005137; ICD9CM:426.6
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (466) Mouse (467) Human (20188) Chinchilla (442) Bonobo (461) Dog (464) Squirrel (449) Pig (460) Green Monkey (458) Naked Mole-rat (441) All
Genes (466)

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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Conduction system disorder

PMID:18464934 PMID:25741868

NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Conduction system disorder

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

solute carrier family 6 member 2

NCBI chr19:14,010,292...14,055,317
Ensembl chr19:14,010,386...14,050,357

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: Conduction system disorder

NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

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

CTD
RGD

PMID:15331425 PMID:23170137 PMID:19648063

RGD:7829797, RGD:8142351

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

AGBL carboxypeptidase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:125,254,963...126,534,367
Ensembl chr 5:125,254,956...126,534,367

G

advanced glycosylation end product-specific receptor

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

DNA:polymorphisms, haplotypes:promoter:multiple

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

associated with Mitral Valve Insufficiency

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

alanine-glyoxylate aminotransferase 2

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

RGD

NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926

G

A-kinase anchoring protein 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Atrial fibrillation

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606

G

ankyrin 2

onset

ClinVar Annotator: match by term: Atrial fibrillation

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

RGD:6767284, RGD:6767284

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

aminopeptidase O

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015 PMID:30061737

NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331

G

apelin

protein:decreased expression:plasma

RGD

NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391

G

Rho GTPase activating protein 10

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr19:30,448,572...30,710,315
Ensembl chr19:30,448,637...30,710,313

G

armadillo-like helical domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:244,666,250...244,848,688
Ensembl chr 1:244,667,033...244,848,689

G

aryl hydrocarbon receptor nuclear translocator 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153

G

N-acylsphingosine amidohydrolase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233

G

ataxin 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360

G

BAG cochaperone 3

ClinVar Annotator: match by term: Atrial fibrillation

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858

G

bestrophin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,586,824...52,656,776
Ensembl chr 7:52,615,776...52,656,766

G

similar to human chromosome 1 open reading frame 185

CTD Direct Evidence: marker/mechanism

NCBI chr 5:124,276,074...124,295,881
Ensembl chr 5:124,276,074...124,295,803

G

calumenin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,949,086...57,976,589
Ensembl chr 4:57,948,997...57,976,593

G

calcium/calmodulin-dependent protein kinase II delta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:215,023,785...215,287,351
Ensembl chr 2:215,024,004...215,286,178

G

cullin-associated and neddylation-dissociated 2 (putative)

no_association

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

CTD
RGD

PMID:29892015 PMID:30061737 PMID:29459676

NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153

G

calsequestrin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

castor zinc finger 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400

G

caveolin 1

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:22544366 PMID:29892015

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

caveolin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244

G

CD36 molecule

disease_progression

mRNA, protein:decreased expression:blood, leukocyte

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 molecule

treatment

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cyclin-dependent kinase 6

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

cyclin-dependent kinase inhibitor 1A

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

CTD
RGD

PMID:29892015 PMID:16043935

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

centrosomal protein 68

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr14:94,447,973...94,470,533
Ensembl chr14:94,449,055...94,470,517

G

cofilin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674

G

glycoprotein hormones, alpha polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191

G

component of oligomeric golgi complex 5

CTD Direct Evidence: marker/mechanism

NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009

G

corin, serine peptidase

ClinVar Annotator: match by term: Atrial fibrillation

PMID:25741868 PMID:37913506

NCBI chr14:35,680,601...35,910,703
Ensembl chr14:35,681,304...35,909,503

G

cAMP responsive element binding protein 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325

G

C-reactive protein

disease_progression

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

RGD

PMID:18811807 PMID:19645035

RGD:9491838, RGD:9491839

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

citrate synthase

protein:decreased expression:left cardiac atrium

RGD

NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421

G

cullin 4A

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr16:76,385,298...76,422,316
Ensembl chr16:76,384,546...76,422,330

G

cytochrome P450, family 2, subfamily C, polypeptide 6

CTD Direct Evidence: marker/mechanism

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

cytohesin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,402,727...103,485,826
Ensembl chr10:103,366,145...103,485,760

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

diacylglycerol kinase, beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:54,640,948...55,397,210
Ensembl chr 6:54,641,614...55,397,043

G

dynein, axonemal, heavy chain 10

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,823,451...31,946,857
Ensembl chr12:31,822,733...32,007,069

G

double PHD fingers 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:102,841,403...103,125,558
Ensembl chr 6:102,846,029...103,125,493

G

endothelin 1

severity

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

CTD
RGD

PMID:16762801 PMID:22669310

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

Eph receptor A3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:1,138,485...1,474,102
Ensembl chr11:1,140,985...1,473,900

G

erb-b2 receptor tyrosine kinase 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

estrogen receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

fibrosin-like 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:46,231,466...46,320,607
Ensembl chr12:46,231,495...46,320,357

G

F-box protein 32

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436

G

fibroblast growth factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,325,334...11,345,997

G

Fms related receptor tyrosine kinase 1

mRNA,protein:increased expression:heart:

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

FERM domain containing 4B

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:129,895,401...130,222,070
Ensembl chr 4:129,895,708...130,084,197

G

GATA binding protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636

G

GATA binding protein 5

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

RGD

NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751

G

gap junction protein, alpha 1

susceptibility

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

RGD

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

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

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

gap junction protein, alpha 5

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

ClinVar
CTD
RGD

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

RGD:1580393, RGD:7207850

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

G protein subunit beta 4

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579

G

golgi associated PDZ and coiled-coil motif containing

CTD Direct Evidence: marker/mechanism

NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903

G

golgi SNAP receptor complex member 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625

G

glycoprotein VI

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

RGD

NCBI chr 1:69,429,232...69,492,709
Ensembl chr 1:69,465,789...69,491,326

G

gelsolin

disease_progression

RGD

NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402

G

general transcription factor II I

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243

G

glycophorin C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:24,160,738...24,193,408
Ensembl chr18:24,160,739...24,193,204

G

H19 imprinted maternally expressed transcript

disease_progression

RNA:increased expression:blood serum (human)

RGD

NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134

G

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

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

PMID:22544366 PMID:23861362 PMID:25145518 PMID:25145519 PMID:25642760 More...

NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312

G

hepatocyte growth factor

protein:increased expression:serum:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

hypoxia inducible factor 1 subunit alpha

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

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

huntingtin interacting protein 1 related

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:32,590,164...32,618,841
Ensembl chr12:32,590,165...32,618,734

G

heat shock transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:36,819,864...36,847,490
Ensembl chr20:36,819,864...36,850,174

G

heparan sulfate proteoglycan 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594

G

5-hydroxytryptamine receptor 4

CTD Direct Evidence: therapeutic

NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321

G

insulin-like growth factor 1 receptor

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interferon regulatory factor 2 binding protein-like

CTD Direct Evidence: marker/mechanism

NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401

G

ISL LIM homeobox 1

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

RGD

NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584

G

integrin subunit alpha M

treatment

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

RGD

PMID:28073885 PMID:26763077

RGD:329901660, RGD:329901663

NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503

G

potassium voltage-gated channel subfamily A member 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697

G

potassium voltage-gated channel subfamily D member 3

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345

G

potassium voltage-gated channel subfamily E regulatory subunit 1

RGD

NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

G

potassium voltage-gated channel subfamily E regulatory subunit 2

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

ClinVar
CTD
RGD

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

NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043

G

potassium voltage-gated channel subfamily H member 2

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

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

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

potassium inwardly-rectifying channel, subfamily J, member 2

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

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

NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445

G

potassium inwardly-rectifying channel, subfamily J, member 5

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29892015 PMID:30061737 PMID:11693772

NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518

G

potassium calcium-activated channel subfamily N member 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347

G

potassium calcium-activated channel subfamily N member 3

CTD Direct Evidence: marker/mechanism

PMID:20173747 PMID:30061737

NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145

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 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

G

lysine demethylase 1B

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800

G

kinesin family member 3C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130

G

LIM homeobox 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480

G

leucine-rich repeats and immunoglobulin-like domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:127,130,899...127,230,956
Ensembl chr 4:127,130,898...127,231,513

G

leucine rich melanocyte differentiation associated

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:1,223,098...2,284,764
Ensembl chr15:1,225,710...2,284,749

G

leucine-rich repeat-containing 10

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,686,972...52,688,369
Ensembl chr 7:52,686,972...52,688,369

G

microtubule-associated protein tau

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129

G

methyl-CpG binding domain protein 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156

G

mex-3 RNA binding family member C

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:67,167,600...67,188,595
Ensembl chr18:67,166,718...67,188,595

G

microRNA 29a

disease_progression

RNA:decreased expression:blood serum (human)

RGD

NCBI chr 4:59,650,608...59,650,695

G

microRNA 29b-1

disease_progression

RNA:increased expression:blood serum (human)

RGD

NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067

G

microRNA 30b

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,132,589...100,132,675
Ensembl chr 7:100,132,589...100,132,675

G

matrix metallopeptidase 1

protein:increased expression:papillary muscle of left ventricle

RGD

PMID:19734590 PMID:20935575

RGD:8549736, RGD:8693675

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 3

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

protein:increased expression:papillary muscle of left ventricle

RGD

PMID:18194448 PMID:19734590

RGD:8547896, RGD:8549736

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myosin heavy chain 6

CTD Direct Evidence: marker/mechanism

PMID:30061737 PMID:34515533

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

myosin heavy chain 7

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

PMID:25741868 PMID:29892015 PMID:30061737

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

myosin XVIIIb

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695

G

myosin 1C

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752

G

myocardin

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627

G

myotilin

CTD Direct Evidence: marker/mechanism

NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841

G

myozenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:3,644,333...3,651,584
Ensembl chr15:3,644,368...3,652,884

G

myopalladin

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443

G

nascent polypeptide associated complex subunit alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992

G

neuron navigator 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:98,957,629...99,322,339
Ensembl chr 1:98,663,759...99,322,337

G

nebulette

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

NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210

G

neuralized E3 ubiquitin protein ligase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903

G

NK2 homeobox 5

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

nitric oxide synthase 3

CTD Direct Evidence: therapeutic

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

natriuretic peptide B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 3, group C, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

nuclear casein kinase and cyclin-dependent kinase substrate 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:43,345,091...43,374,316
Ensembl chr13:43,345,115...43,370,229

G

nucleoporin 155

ClinVar Annotator: match by term: Atrial fibrillation

NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148

G

opsin 1, short wave sensitive

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816

G

pleckstrin homology-like domain, family A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:46,967,433...46,969,637
Ensembl chr 7:46,967,409...46,969,861

G

pleckstrin homology-like domain, family B, member 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,859,173...55,078,212
Ensembl chr11:54,859,135...55,078,467

G

paired-like homeodomain 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293

G

plakophilin 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

phospholamban

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,629,537...32,639,559

G

pro-platelet basic protein

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

RGD

PMID:2946878 PMID:37294500

RGD:329901822, RGD:401794955

NCBI chr14:17,302,326...17,303,130
Ensembl chr14:17,302,326...17,303,130

G

PTPRF interacting protein alpha 4

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr13:45,753,827...45,802,305
Ensembl chr13:45,753,827...45,802,261

G

protein phosphatase 2, regulatory subunit B'', alpha

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502

G

paired related homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866

G

proteasome 20S subunit beta 7

CTD Direct Evidence: marker/mechanism

NCBI chr 3:22,357,777...22,417,748
Ensembl chr 3:22,354,698...22,417,937

G

parathyroid hormone

protein:increased expression:serum (human)

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

protein tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783

G

RNA binding motif protein 20

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060

G

receptor accessory protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338

G

receptor accessory protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,493,868...21,578,698
Ensembl chr20:21,493,954...21,578,697

G

renin

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

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

roundabout guidance receptor 1

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

RGD

NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203

G

ribosomal protein L3-like

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457

G

ribosomal protein S2

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163

G

Scm polycomb group protein homolog 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105

G

sodium voltage-gated channel alpha subunit 10

CTD Direct Evidence: marker/mechanism

PMID:20062060 PMID:29892015 PMID:30061737

NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

selectin E

CTD Direct Evidence: marker/mechanism

NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741

G

sarcoglycan, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813

G

SH3 and PX domains 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260

G

solute carrier family 27 member 6

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,040,241...52,099,622
Ensembl chr18:52,041,074...52,099,414

G

solute carrier family 35, member F1

CTD Direct Evidence: marker/mechanism

NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611

G

solute carrier family 9 member B1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179

G

slit guidance ligand 2

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

RGD

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

slit guidance ligand 3

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr10:19,571,798...20,156,634
Ensembl chr10:19,571,684...20,156,634

G

SMAD family member 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765

G

small nuclear ribonucleoprotein U4/U6.U5 subunit 27

CTD Direct Evidence: marker/mechanism

NCBI chr 4:119,123,676...119,133,234
Ensembl chr 4:119,121,877...119,133,234

G

syntrophin, alpha 1

ClinVar Annotator: match by term: Atrial fibrillation

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

NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709

G

superoxide dismutase 1

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

RGD

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

sortilin related receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513

G

SRY-box transcription factor 15

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591

G

SRY-box transcription factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852

G

spermatogenesis associated, serine-rich 2-like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 9:59,319,949...59,493,864
Ensembl chr 9:59,320,276...59,493,967

G

sarcospan

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:178,890,030...178,946,267
Ensembl chr 4:178,897,147...178,931,554

G

Sad1 and UNC84 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571

G

spectrin repeat containing nuclear envelope protein 2

CTD Direct Evidence: marker/mechanism

PMID:22544366 PMID:29892015

NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064

G

synaptopodin 2-like

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:3,631,974...3,641,429
Ensembl chr15:3,631,834...3,641,429

G

T-box transcription factor 5

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885

G

tissue factor pathway inhibitor

mRNA,protein:decreased expression:endocardium:

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor, beta 1

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

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

thyroid hormone receptor beta

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916

G

toll-like receptor 2

protein:increased expression:monocyte:

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

tumor necrosis factor

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

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF superfamily member 12

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213

G

titin

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

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

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

tubulin, alpha 8

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917

G

ubiquitination factor E4B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509

G

ubiquitin specific peptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111

G

ubiquitin specific peptidase 34

CTD Direct Evidence: marker/mechanism

NCBI chr14:97,285,799...97,476,376
Ensembl chr14:97,286,018...97,476,376

G

uronyl-2-sulfotransferase

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr 1:2,666,983...2,962,276
Ensembl chr 1:2,669,592...2,962,044

G

vascular endothelial growth factor A

mRNA,protein:increased expression:heart:

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

von Willebrand factor

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17890461 PMID:21497043

NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539

G

WD repeat domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766

G

WAS/WASL interacting protein family, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742

G

Wnt family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099

G

Wnt family member 8A

CTD Direct Evidence: marker/mechanism

NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283

G

exportin 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498

G

exportin 7

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr15:45,742,053...45,828,050
Ensembl chr15:45,742,053...45,828,050

G

xyloside xylosyltransferase 1

CTD Direct Evidence: marker/mechanism

PMID:29892015 PMID:30061737

NCBI chr11:69,658,481...69,790,938
Ensembl chr11:69,658,460...69,790,730

G

zinc finger homeobox 3

CTD Direct Evidence: marker/mechanism

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

NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771

G

zinc finger protein 462

CTD Direct Evidence: marker/mechanism

NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327

G

zona pellucida binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,558,772...83,567,511
Ensembl chr10:83,559,016...83,567,508

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 chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434

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 chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157

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 chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999

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 chr10:16,680,478...16,683,275

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 chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957

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 chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119

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
OMIM:108900

OMIM
ClinVar
MouseDO

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

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

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

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 chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170

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 chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9588401 PMID:16790700 PMID:20818502 PMID:21921585 PMID:22199024 More...

NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

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 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha i2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

G

lamin A/C

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

CTD
RGD

PMID:10580070 PMID:25469153

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

myosin heavy chain 6

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

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

NK2 homeobox 5

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

RGD

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: AV block

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

transient receptor potential cation channel, subfamily M, member 4

CTD Direct Evidence: marker/mechanism

PMID:32681584 PMID:33959666

NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

acetyl-CoA acyltransferase 1A

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,079,401...119,088,626
Ensembl chr 8:119,079,775...119,088,624

G

activin A receptor type 2B

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458

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 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

ankyrin repeat domain 1

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919

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 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

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 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969

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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

G

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588

G

CTD small phosphatase like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,642,729...118,767,238
Ensembl chr 8:118,642,672...118,767,117

G

DLEC1 cilia and flagella associated protein

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655

G

dystrophin

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

PMID:25741868 PMID:28492532

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

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 chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

exo/endonuclease G

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672

G

glycerol-3-phosphate dehydrogenase 1 like

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

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

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

hes-related family bHLH transcription factor with YRPW motif 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218

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 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984

G

integrin subunit alpha 9

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754

G

potassium voltage-gated channel subfamily D member 3

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345

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 chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901

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 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020

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:105,930,398...105,931,013
Ensembl chr X:105,930,398...105,931,013

G

potassium voltage-gated channel subfamily H member 2

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

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

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

potassium inwardly-rectifying channel, subfamily J, member 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445

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 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603

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 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532 PMID:28986455

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

G

microRNA 26a

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378

G

myosin binding protein C3

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

PMID:12707239 PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 More...

NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin binding protein H-like

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28778945

NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824

G

MYD88, innate immune signal transduction adaptor

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

myosin heavy chain 6

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

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

NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720

G

oxidative stress responsive kinase 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027

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 chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

phospholipase C, delta 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186

G

ryanodine receptor 2

ClinVar Annotator: match by term: Brugada syndrome

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 10

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

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

NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614

G

sodium voltage-gated channel alpha subunit 11

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044

G

sodium voltage-gated channel beta subunit 1

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

PMID:22155597 PMID:25741868

NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739

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 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

solute carrier family 22 member 13

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,922,367...118,934,020
Ensembl chr 8:118,922,367...118,953,635

G

solute carrier family 22, member 14

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,894,537...118,916,416
Ensembl chr 8:118,895,259...118,908,255

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 chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149

G

syntrophin, alpha 1

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

PMID:26220970 PMID:28492532

NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709

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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107

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 chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887

G

transforming growth factor, beta 3

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:28492532

NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564

G

transient receptor potential cation channel, subfamily M, member 4

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

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

NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

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 chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

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 chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

G

villin-like

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,776,718...118,794,983
Ensembl chr 8:118,776,742...118,794,983

G

xylulokinase

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848

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 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606

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 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969

G

desmoplakin

ClinVar Annotator: match by term: Brugada syndrome 1

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

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

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 4:159,354,689...159,358,173
Ensembl chr 4:159,350,097...159,357,697

G

potassium voltage-gated channel subfamily H member 2

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

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

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

potassium inwardly-rectifying channel, subfamily J, member 16

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702

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 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603

G

sodium voltage-gated channel alpha subunit 10

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

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

NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614

G

sodium voltage-gated channel alpha subunit 5

susceptibility

OMIM:601144
ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome

MouseDO
OMIM
ClinVar

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 1

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

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 1:85,563,511...85,568,977
Ensembl chr 1:85,563,592...85,568,973

G

amyloid beta precursor like protein 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,696,880...85,707,215
Ensembl chr 1:85,696,882...85,707,155

G

Rho GTPase activating protein 33

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,776,112...85,789,767
Ensembl chr 1:85,776,108...85,789,678

G

ATPase H+/K+ transporting subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,961,607...85,974,972
Ensembl chr 1:85,961,708...85,974,844

G

calpain, small subunit 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,444,613...85,454,861
Ensembl chr 1:85,444,608...85,454,795

G

CD22 molecule

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322

G

CAP-GLY domain containing linker protein 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,547,170...85,563,187
Ensembl chr 1:85,547,206...85,563,184

G

cytochrome c oxidase subunit 6B1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001
Ensembl chr 5:85,875,109...85,884,001

G

cytochrome c oxidase subunit 7A1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,422,162...85,447,530
Ensembl chr 1:85,441,871...85,445,151

G

dermokine

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,013,237...86,031,243
Ensembl chr 1:86,014,188...86,030,006

G

ETS variant transcription factor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431

G

family with sequence similarity 187, member B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,205,234...86,219,542
Ensembl chr 1:86,205,218...86,219,917

G

free fatty acid receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,111,368...86,112,272
Ensembl chr 1:86,111,368...86,112,272

G

free fatty acid receptor 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,071,855...86,075,049
Ensembl chr 1:86,072,184...86,075,033

G

free fatty acid receptor 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,105,388...86,106,728
Ensembl chr 1:86,104,920...86,106,849

G

FXYD domain-containing ion transport regulator 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,287,163...86,291,478
Ensembl chr 1:86,287,165...86,291,278

G

FXYD domain-containing ion transport regulator 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,305,531...86,312,455

G

FXYD domain-containing ion transport regulator 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,267,937...86,277,329
Ensembl chr 1:86,267,406...86,277,519

G

FXYD domain-containing ion transport regulator 7

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,277,678...86,286,954
Ensembl chr 1:86,277,678...86,286,954

G

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,979,096...85,994,153
Ensembl chr 1:85,979,098...85,993,640

G

hepcidin antimicrobial peptide

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891

G

HAUS augmin-like complex, subunit 5

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,912,371...85,924,327
Ensembl chr 1:85,912,374...85,923,337

G

hematopoietic cell signal transducer

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,676,976...85,679,083
Ensembl chr 1:85,676,979...85,679,012

G

hepsin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,337,085...86,352,785
Ensembl chr 1:86,337,087...86,352,811

G

heat shock protein family B (small) member 6

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,806,898...85,809,072
Ensembl chr 1:85,806,146...85,809,071

G

IGF-like family receptor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,818,428...85,821,032
Ensembl chr 1:85,816,326...85,821,030

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670

G

lysine methyltransferase 2B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326

G

keratinocyte differentiation associated protein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,038,296...86,041,594
Ensembl chr 1:86,038,437...86,041,455

G

leucine-rich repeat LGI family, member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874

G

lin-37 DREAM MuvB core complex component

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,809,065...85,813,235
Ensembl chr 1:85,809,074...85,812,991

G

leucine rich repeat and fibronectin type III domain containing 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,616,862...85,623,725
Ensembl chr 1:85,616,868...85,623,725

G

lipolysis stimulated lipoprotein receptor

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,185,769...86,201,952
Ensembl chr 1:86,186,431...86,201,952

G

myelin-associated glycoprotein

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656

G

NFKB inhibitor delta

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447

G

ovo-like zinc finger 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,484,956...85,488,592
Ensembl chr 1:85,484,956...85,488,592

G

RNA polymerase II subunit I

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952

G

proline dehydrogenase 2

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,753,558...85,767,165
Ensembl chr 1:85,753,644...85,767,162

G

proline and serine rich 3

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,793,363...85,806,682
Ensembl chr 1:85,793,358...85,805,909

G

presenilin enhancer gamma secretase subunit

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192

G

RNA binding motif protein 42

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,898,618...85,908,569
Ensembl chr 1:85,898,625...85,908,573

G

suprabasin

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,978,970...86,006,034
Ensembl chr 1:86,001,567...86,006,034

G

sodium voltage-gated channel beta subunit 1

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

OMIM
ClinVar
CTD

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

NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739

G

succinate dehydrogenase complex assembly factor 1

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,576,207...85,577,156
Ensembl chr 1:85,576,041...85,577,366
Ensembl chr 1:85,576,041...85,577,366

G

spectrin repeat containing nuclear envelope family member 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760

G

tubulin folding cofactor B

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,477,639...85,483,488
Ensembl chr 1:85,477,640...85,483,488

G

THAP domain containing 8

ClinVar Annotator: match by term: Brugada syndrome 5

G

transmembrane protein 147

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868

G

transmembrane immune signaling adaptor Tyrobp

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848

G

U2 small nuclear RNA auxiliary factor 1-like 4

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,816,268...85,818,462
Ensembl chr 1:85,815,101...85,818,462

G

uroplakin 1A

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,859,672...85,870,147
Ensembl chr 1:85,859,671...85,870,354

G

upstream transcription factor 2, c-fos interacting

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:86,174,703...86,185,942
Ensembl chr 1:86,174,703...86,185,617

G

WD repeat domain 62

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637

G

zinc finger and BTB domain containing 32

ClinVar Annotator: match by term: Brugada syndrome 5

NCBI chr 1:85,841,931...85,851,116
Ensembl chr 1:85,841,931...85,844,236

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020

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 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890

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

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

OMIM
MouseDO
CTD
ClinVar

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

NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868

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 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351

G

AT-rich interaction domain 3B

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318

G

ariadne RBR E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245

G

Bardet-Biedl syndrome 4

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607

G

coiled-coil domain containing 33

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370

G

Cd276 molecule

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380

G

CDC-like kinase 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181

G

complexin 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297

G

C-terminal Src kinase

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292

G

cytochrome P450, family 11, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 1, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily a, polypeptide 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

enhancer of mRNA decapping 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671

G

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

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

CTD
OMIM
ClinVar

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

NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639

G

hexosaminidase subunit alpha

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013

G

inhibitory synaptic factor 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843

G

immunoglobulin superfamily containing leucine-rich repeat

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130

G

immunoglobulin superfamily containing leucine-rich repeat 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650

G

lectin, mannose-binding, 1 like

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681

G

lysyl oxidase-like 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356

G

mannose phosphate isomerase

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150

G

neogenin 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348

G

neuroplastin

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401

G

PML nuclear body scaffold

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971

G

REC114 meiotic recombination protein

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887

G

secretory carrier membrane protein 2

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646

G

semaphorin 7A (John Milton Hagen blood group)

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536

G

stomatin like 1

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860

G

signaling receptor and transporter of retinol STRA6

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860

G

TBC1 domain family, member 21

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711

G

transmembrane protein 202

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609

G

ubiquitin-like 7

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344

G

unc-51 like kinase 3

ClinVar Annotator: match by term: Brugada syndrome 8

NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467

Brugada syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily D member 3

ClinVar Annotator: match by term: Brugada syndrome 9

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

NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Brugada syndrome 9

PMID:25741868 PMID:28492532

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356

G

ankyrin 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

calsequestrin 2

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:27114410 PMID:28492532

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

dystrophin

ClinVar Annotator: match by term: cardiac conduction defect

PMID:25741868 PMID:28492532

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

desmoglein 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

junction plakoglobin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

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:12736279 More...

NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669

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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

myosin heavy chain 7

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

NK2 homeobox 5

RGD

NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934

G

plakophilin 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730

G

RNA binding motif protein 20

ClinVar Annotator: match by term: cardiac conduction defect

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060

G

ryanodine receptor 2

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

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 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

G

transthyretin

ClinVar Annotator: match by term: cardiac conduction defect

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

NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008

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 chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

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)

RGD

NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

leucine rich repeat containing 53

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

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

NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164

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 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268

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 chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

G

A-kinase anchoring protein 9

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

PMID:23861362 PMID:25741868 PMID:28492532

NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606

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 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

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

NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648

G

calmodulin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

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

NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227

G

calsequestrin 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-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:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 More...

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

desmoglein 2

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

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

NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

FKBP prolyl isomerase 1B

NCBI chr 6:27,832,128...27,850,600
Ensembl chr 6:27,838,802...27,848,653

G

kelch-like family member 8

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr14:5,807,795...5,853,325
Ensembl chr14:5,807,907...5,853,294

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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

metallothionein 2, pseudogene 1

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073

G

5-methyltetrahydrofolate-homocysteine methyltransferase

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

ryanodine receptor 2

CTD Direct Evidence: marker/mechanism
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: 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 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

PMID:285698 PMID:1817325 PMID:9536098 PMID:11078270 PMID:11157710 More...

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

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

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

NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr14:24,732,241...24,805,272
Ensembl chr14:24,732,241...24,805,272

G

triadin

DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: 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 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595

G

transient receptor potential cation channel, subfamily M, member 4

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

NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532

G

titin

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741

G

VANGL planar cell polarity protein 1

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619

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 chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622

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 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923

G

ATPase Na+/K+ transporting subunit alpha 1

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

NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837

G

calmodulin 1

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

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

NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227

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

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

NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267

G

DM1 protein kinase

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

NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593

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 chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156

G

desmoplakin

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

PMID:28492532 PMID:33552729

NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800

G

potassium voltage-gated channel subfamily H member 2

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

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

laminin subunit alpha 4

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

NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347

G

lamin A/C

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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423

G

mab-21 like 3

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

NCBI chr 2:189,248,895...189,271,652
Ensembl chr 2:189,248,895...189,271,652

G

metallothionein 2, pseudogene 1

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

NCBI chr20:3,159,037...3,159,409
Ensembl chr 5:119,728,811...119,730,073

G

5-methyltetrahydrofolate-homocysteine methyltransferase

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

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

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 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405

G

nescient helix loop helix 2

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

NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625

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

OMIM
ClinVar
MouseDO

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

NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142

G

sodium voltage-gated channel alpha subunit 5

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