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:	heart rhythm disease
	xref:	ICD9CM:426.6
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:

Rat (300) Mouse (302) Human (8999) Chinchilla (280) Bonobo (294) Dog (292) Squirrel (284) Pig (288) Green Monkey (290) Naked Mole-rat (282) All
Genes (300)

heart conduction disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 6 member 2

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

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

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

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 chr17:1,811,922...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

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

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

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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178

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, variant 1

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

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 7:89,731,626...89,764,761
Ensembl chr 7:89,730,232...89,765,436

G

fibroblast growth factor 5

CTD Direct Evidence: marker/mechanism

NCBI chr14:11,325,334...11,346,570
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

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

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

CTD
ClinVar
RGD

PMID:16790700 PMID:29892015 PMID:30061737 PMID:16790700 PMID:11527649

RGD:1580393, RGD:7207850

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

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...31,776,928
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

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 (Gerbich blood group)

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

heart and neural crest derivatives expressed 2

CTD Direct Evidence: marker/mechanism

PMID:28416822 PMID:29892015 PMID:30061737

NCBI chr16:32,917,826...32,919,880
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

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 1:121,549,839...121,838,545
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

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:18006559 PMID:22581653 PMID:24681347 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, association with

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:19041665 PMID:19111761 PMID:22581653 PMID:23631430 More...

NCBI chr10:96,060,849...96,071,401
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

hypothetical protein LOC689589

CTD Direct Evidence: marker/mechanism

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

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 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

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 chr10:60,498,374...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 1:246,066,642...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 chr11:68,708,070...68,766,622
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

G

phospholamban

CTD Direct Evidence: marker/mechanism

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

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

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

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

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

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

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...79,922,813
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 chr20:25,307,143...25,329,260
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 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:25741868

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 chr10:54,373,602...54,376,591
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

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

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:17344846 PMID:20890277 PMID:23396983 PMID:23861362 PMID:24033266 More...

NCBI chr 3:61,652,432...61,924,912

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 chr10:88,680,248...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 chr14:97,233,263...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

NK2 homeobox 5

ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by OMIM:108900

PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 More...

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

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

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

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

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:15998690 PMID:16188595 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

PMID:6225642 PMID:23275345 PMID:28492532

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

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: Atrioventricular conduction 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...119,088,624
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: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Brugada syndrome

PMID:23631430 PMID:23861362 PMID:25741868 PMID:26230511 PMID:28492532

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

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: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome

PMID:17224476 PMID:20817017 PMID:22385640 PMID:22581653 PMID:22840528 More...

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

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

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

desmoplakin

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:17967976 PMID:17967977 PMID:19606473 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:28492532 PMID:30021168

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:28492532

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

PMID:28166811 PMID:28492532

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

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 chr10:96,060,849...96,071,401
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:22056721 PMID:22365152 PMID:22562657 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: Brugada syndrome

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: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:18533079 PMID:20215591 PMID:21499742 PMID:21832025 PMID:21832052 More...

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

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: Brugada syndrome

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

NOP2/Sun RNA methyltransferase 6

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 chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006

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)
ClinVar Annotator: match by term: Brugada syndrome

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

NCBI 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

ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism

PMID:1309182 PMID:9536098 PMID:11527630 PMID:11901046 PMID:12417552 More...

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

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: Sudden unexplained nocturnal death syndrome

PMID:22155597 PMID:25741868

NCBI chr 1:86,353,917...86,363,836
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:23861362 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

ClinVar Annotator: match by null
ClinVar Annotator: match by term: Brugada syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by OMIM:601144

PMID:2107088 PMID:2380016 PMID:3953067 PMID:7651517 PMID:7889574 More...

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

G

solute carrier family 22 member 13-like 1

ClinVar Annotator: match by term: Brugada syndrome

PMID:20129283 PMID:22789973 PMID:28492532

NCBI chr 8:118,958,209...118,972,614
Ensembl chr 8:118,961,000...118,966,046

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...118,916,446

G

sarcolemma associated protein

ClinVar Annotator: match by term: Brugada syndrome

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28166811 PMID:28492532

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

G

syntrophin, alpha 1

ClinVar Annotator: match by term: Brugada syndrome

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

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

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: Sudden unexplained nocturnal death syndrome
ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:25741868 More...

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

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

G

transthyretin

ClinVar Annotator: match by term: Brugada syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371117

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

fibrillin 1

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

PMID:19012347 PMID:19159394 PMID:25741868

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: Right bundle branch block, ST segment elevation, and sudden death syndrome

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: Brugada syndrome 1

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 8

ClinVar Annotator: match by term: Brugada syndrome 1

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: Brugada syndrome 1

PMID:25691538 PMID:25741868 PMID:28492532 PMID:32581362

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

G

sodium voltage-gated channel alpha subunit 5

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

PMID:2107088 PMID:8661019 PMID:8972392 PMID:9521325 PMID:9536098 More...

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

Brugada syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycerol-3-phosphate dehydrogenase 1-like

ClinVar Annotator: match by term: Brugada syndrome 2

PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 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

PMID:17224476 PMID:20817017 PMID:22385640 PMID:22581653 PMID:23414114 More...

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

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 OMIM:611876

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

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Brugada syndrome 4

PMID:9536098 PMID:17224476 PMID:17576681 PMID:20817017 PMID:22090166 More...

NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006

Brugada syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Brugada syndrome 5

PMID:5421039 PMID:9461582 PMID:9536098 PMID:9539778 PMID:9697698 More...

NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739

Brugada syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily E regulatory subunit 3

ClinVar Annotator: match by term: Brugada syndrome 6

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

NCBI 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

ClinVar Annotator: match by term: Brugada syndrome 7

PMID:20031595 PMID:20042427 PMID:20226894 PMID:20558140 PMID:21051419 More...

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

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

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

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

ClinVar Annotator: match by term: Brugada syndrome 8

PMID:9536098 PMID:12750403 PMID:17576681 PMID:17646576 PMID:19165230 More...

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

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

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

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

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:22284586 PMID:22336521 PMID:22457051 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

A-kinase anchoring protein 10

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr10:46,545,464...46,608,768
Ensembl chr10:46,551,532...46,608,769

G

NK2 homeobox 5

RGD

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

Cardiac Conduction Defect, Nonspecific

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: Cardiac conduction defect, nonspecific

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

G

NOP2/Sun RNA methyltransferase 6

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

NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by null

NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739

G

sodium voltage-gated channel alpha subunit 5

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

PMID:9521325 PMID:10532948 PMID:10618304 PMID:11029409 PMID:11123251 More...

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

G

transient receptor potential cation channel, subfamily M, member 4

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

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

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

PMID:25741868 PMID:30010057

NCBI chr 2:243,781,445...243,807,037

G

TNNI3 interacting kinase

ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy

PMID:24925317 PMID:25741868 PMID:25791106 PMID:29355681 PMID:30010057

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

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: Catecholaminergic 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

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:25633834 PMID:25741868 PMID:28492532

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

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic Polymorphic Ventricular Tachycardia
CTD Direct Evidence: marker/mechanism

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

FKBP prolyl isomerase 1B

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

G

lamin A/C

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia

PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 More...

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

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

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

G

ryanodine receptor 2

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1

PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:11389482 More...

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

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Catecholaminergic 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

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

G

tropomyosin 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

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

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595

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

ankyrin 2

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1

PMID:16253912 PMID:22581653 PMID:28166811 PMID:28492532

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

G

calmodulin 1

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 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 OMIM:604772
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD Direct Evidence: marker/mechanism

PMID:12034872 PMID:14571276 PMID:17881003 PMID:18543230 PMID:18684293 More...

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

G

DM1 protein kinase

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 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: Catecholaminergic polymorphic ventricular tachycardia type 1

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 type 1

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: Ventricular tachycardia, catecholaminergic polymorphic, 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: Ventricular tachycardia, catecholaminergic polymorphic, 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: Catecholaminergic polymorphic ventricular tachycardia type 1

PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:17107595 More...

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

G

myosin binding protein C3

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1

PMID:24033266 PMID:25741868 PMID:28492532

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

G

ryanodine receptor 2

ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1
ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar Annotator: match by OMIM:604772

PMID:9536098 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 More...

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

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1

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

tropomyosin 1

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802

G

triadin

CTD Direct Evidence: marker/mechanism

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: Ventricular tachycardia, catecholaminergic polymorphic, 1

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

G

VANGL planar cell polarity protein 1

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

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 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calsequestrin 2

ClinVar Annotator: match by OMIM:611938
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2

PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16908766 More...

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

G

ryanodine receptor 2

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2

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

G

VANGL planar cell polarity protein 1

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 2

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

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

catecholaminergic polymorphic ventricular tachycardia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by OMIM:614021
ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 3

PMID:17666061 PMID:25741868 PMID:27861123 PMID:30790670

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

catecholaminergic polymorphic ventricular tachycardia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 1

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 4

PMID:23040497 PMID:23388215 PMID:23663249 PMID:24563457 PMID:24816216 More...

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

catecholaminergic polymorphic ventricular tachycardia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

triadin

ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ClinVar Annotator: match by OMIM:615441

PMID:22422768 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25922419 More...

NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595

familial atrial fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

PMID:24033266 PMID:25741868 PMID:28492532

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

G

gap junction protein, alpha 5

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

PMID:12522116 PMID:28492532

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

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

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

G

potassium voltage-gated channel subfamily E regulatory subunit 2

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

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

G

potassium inwardly-rectifying channel, subfamily J, member 2

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Familial atrial fibrillation
OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

ClinVar
MouseDO

PMID:17470695 PMID:19716085 PMID:19841300 PMID:21185501 PMID:22199116 More...

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

G

laminin subunit alpha 4

ClinVar Annotator: match by term: Familial atrial fibrillation

PMID:25741868 PMID:28492532

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

G

myosin, light chain 4

ClinVar Annotator: match by term: Familial atrial fibrillation

NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363

G

natriuretic peptide A

OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

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

G

nucleoporin 155

OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

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

G

sodium voltage-gated channel beta subunit 1

OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739

G

sodium voltage-gated channel beta subunit 2

OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765

G

sodium voltage-gated channel alpha subunit 5

OMIM:607554 | OMIM:608583 | OMIM:608988 | OMIM:611493 | OMIM:611494 | OMIM:612201 | OMIM:612240 | OMIM:613055 | OMIM:613980 | OMIM:614022 | OMIM:614049 | OMIM:614050 | OMIM:615377 | OMIM:615378 | OMIM:615770

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

Familial Atrial Fibrillation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired-like homeodomain 2

ClinVar Annotator: match by term: ATFB1

PMID:28166811 PMID:28492532

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

Familial Atrial Fibrillation 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 5

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

PMID:3953067 PMID:10711933 PMID:11076825 PMID:11123251 PMID:11804990 More...

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

Familial Atrial Fibrillation 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein, alpha 5

ClinVar Annotator: match by term: Atrial fibrillation, familial, 11
ClinVar Annotator: match by OMIM:614049

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

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

Familial Atrial Fibrillation 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

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

PMID:17245405 PMID:25741868

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

Familial Atrial Fibrillation 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 1

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

PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 More...

NCBI chr 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739

Familial Atrial Fibrillation 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 2

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

PMID:19808477 PMID:23559163 PMID:23861362 PMID:25741868 PMID:28166811 More...

NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765

Familial Atrial Fibrillation 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 155

ClinVar Annotator: match by term: Atrial fibrillation, familial, 15
ClinVar Annotator: match by OMIM:615770

PMID:15596564 PMID:19070573 PMID:25741868

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

Familial Atrial Fibrillation 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 3

ClinVar Annotator: match by term: Atrial fibrillation, familial, 16

PMID:20031595 PMID:20558140 PMID:21051419 PMID:22284586 PMID:23257389 More...

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

Familial Atrial Fibrillation 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel beta subunit 4

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

NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292

Familial Atrial Fibrillation 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin, light chain 4

ClinVar Annotator: match by term: Atrial fibrillation, familial, 18

PMID:9536098 PMID:17576681 PMID:27066836 PMID:28492532

NCBI chr10:89,449,456...89,485,365
Ensembl chr10:89,449,443...89,485,363

Familial Atrial Fibrillation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 1

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

PMID:2294929 PMID:8487283 PMID:9312006 PMID:9386136 PMID:9641694 More...

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

Familial Atrial Fibrillation 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily E regulatory subunit 2

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

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

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

Familial Atrial Fibrillation 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor-associated protein

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

NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036

G

angiopoietin like 7

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

NCBI chr 5:158,932,094...158,937,597
Ensembl chr 5:158,932,794...158,937,324

G

chloride voltage-gated channel 6

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

NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059

G

dispatched RND transporter family member 3

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

NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806

G

dorsal inhibitory axon guidance protein

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

NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483

G

exosome component 10

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

NCBI chr 5:158,995,318...159,018,946
Ensembl chr 5:158,995,313...159,018,940

G

F-box protein 2

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

NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355

G

F-box protein 44

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

NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363

G

F-box protein 6

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

NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525

G

uncharacterized LOC102551309

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

NCBI chr 5:158,495,514...158,505,671

G

mitotic arrest deficient 2 like 2

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

NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693

G

MBL associated serine protease 2

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

NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580

G

methylenetetrahydrofolate reductase

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

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mechanistic target of rapamycin kinase

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

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

natriuretic peptide A

ClinVar Annotator: match by term: Atrial fibrillation, familial, 6
ClinVar Annotator: match by OMIM:612201

PMID:6225642 PMID:15017020 PMID:17984371 PMID:19458086 PMID:19646991 More...

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

G

natriuretic peptide B

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

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

G

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1

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

NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620

G

similar to RIKEN cDNA 2510039O18

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

NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195

G

spermidine synthase

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

NCBI chr 5:159,025,919...159,029,076
Ensembl chr 5:159,025,873...159,029,405

G

TAR DNA binding protein

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

NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055

G

UbiA prenyltransferase domain containing 1

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

NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271

Familial Atrial Fibrillation 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily A member 5

ClinVar Annotator: match by term: Atrial fibrillation, familial, 7
ClinVar Annotator: match by OMIM:612240

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

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

Familial Atrial Fibrillation 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium inwardly-rectifying channel, subfamily J, member 2

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

PMID:15922306 PMID:19041665 PMID:19111761 PMID:22581653 PMID:23631430 More...

NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445

first-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 7

ClinVar Annotator: match by term: First degree atrioventricular block

PMID:21127202 PMID:24033266 PMID:25741868 PMID:28492532

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

Long QT Syndrome 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calmodulin 3

ClinVar Annotator: match by term: Long QT syndrome 16
ClinVar Annotator: match by term: LONG QT SYNDROME 16

PMID:25460178 PMID:25741868

NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207

Paroxysmal Atrial Fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

protein:decreased expression:serum:

RGD

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

MIB E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689

G

myosin binding protein C3

ClinVar Annotator: match by term: Paroxysmal atrial fibrillation

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

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

Postoperative Atrial Fibrillation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cullin-associated and neddylation-dissociated 2 (putative)

DNA:SNP:intron:rs4642101 (human)

RGD

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

G

C-reactive protein

no_association

RGD

NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178

G

interleukin 6

disease_progression

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

serpin family E member 1

protein:increased expression:plasma (human)

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

postural orthostatic tachycardia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 6 member 2

OMIM:604715

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

progressive familial heart block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoplakin

ClinVar Annotator: match by term: Progressive familial heart block

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

G

histidine rich calcium binding protein

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

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

G

sodium voltage-gated channel alpha subunit 5

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

PMID:2107088 PMID:8661019 PMID:9536098 PMID:10471492 PMID:10508990 More...

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

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: LENEGRE-LEV DISEASE
ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

Progressive Familial Heart Block Type I

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histidine rich calcium binding protein

ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

G

sodium voltage-gated channel alpha subunit 5

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

PMID:2107088 PMID:8661019 PMID:9536098 PMID:10471492 PMID:10508990 More...

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

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

progressive familial heart block type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histidine rich calcium binding protein

ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

G

sodium voltage-gated channel alpha subunit 5

ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ClinVar Annotator: match by OMIM:113900

PMID:2107088 PMID:8661019 PMID:9536098 PMID:10471492 PMID:10508990 More...

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

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

progressive familial heart block type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histidine rich calcium binding protein

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

PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168

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

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: Progressive familial heart block type IB
ClinVar Annotator: match by term: Progressive familial heart block type 1B
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
ClinVar Annotator: match by OMIM:604559

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

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

second-degree atrioventricular block

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK2 homeobox 5

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

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

short QT syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 C

ClinVar Annotator: match by term: Short QT Syndrome 4
ClinVar Annotator: match by term: short QT syndrome

PMID:20031608 PMID:20817017 PMID:22840528 PMID:23861362 PMID:25447171 More...

NCBI chr 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: short QT syndrome

PMID:25741868 PMID:26467025

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: Short QT Syndrome 5

PMID:25741868 PMID:28492532

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

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622

ClinVar
MouseDO

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

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

G

potassium inwardly-rectifying channel, subfamily J, member 2

ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622

ClinVar
MouseDO

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

NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: short QT syndrome
OMIM:609620 | OMIM:609621 | OMIM:609622

ClinVar
MouseDO

PMID:11278406 PMID:15051636 PMID:15159330 PMID:17470695 PMID:19716085 More...

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

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Short QT Syndrome 5

PMID:25741868 PMID:28492532

NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006

G

transient receptor potential cation channel, subfamily M, member 4

ClinVar Annotator: match by term: short QT syndrome

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

Short QT Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily H member 2

ClinVar Annotator: match by term: Short QT syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609620

OMIM
ClinVar
CTD

PMID:9544837 PMID:10220144 PMID:10483966 PMID:10862094 PMID:10973849 More...

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

Short QT Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: Short QT syndrome 2
ClinVar Annotator: match by OMIM:609621

PMID:2294929 PMID:9641694 PMID:9799083 PMID:9927399 PMID:10482963