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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:long QT syndrome
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Accession:DOID:2843 term browser browse the term
Definition:An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)
Synonyms:exact_synonym: LQT;   PROLONGED QT INTERVAL;   long Q-T syndrome
 narrow_synonym: acquired long QT syndrome;   congenital long QT syndrome;   long QT syndrome, drug-associated
 related_synonym: long QT interval, drug induced, association with
 primary_id: MESH:D008133
 xref: EFO:0005138;   GARD:6922;   ICD10CM:I45.81;   ICD9CM:426.82;   MONDO:0019171;   NCI:C34786;   NCI:C85049;   OMIM:PS192500;   ORDO:768
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
long QT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB8 ATP binding cassette subfamily B member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,209,637...119,226,839
Ensembl chr21:119,209,675...119,229,801 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ABCF2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,398,018...119,412,207
Ensembl chr21:119,392,284...119,412,054 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,181,446...39,230,164
Ensembl chr 2:39,181,468...39,229,444 		JBrowse link
G ACTL10 actin like 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,958,930...37,961,403 JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29247119 PMID:31983221 NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,268,918...119,327,623 JBrowse link
G AHCY adenosylhomocysteinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,579,254...38,601,218
Ensembl chr 2:38,579,024...38,601,208 		JBrowse link
G AKAP8 A-kinase anchoring protein 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:13,965,014...13,987,586 JBrowse link
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18093912 PMID:22378279 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANK2 ankyrin 2 susceptibility ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated		 RGD
ClinVar		 PMID:7485162 PMID:9536098 PMID:11334825 PMID:12571597 PMID:15075330 More... RGD:734572 NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		JBrowse link
G ANKRD31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:69,433,974...69,597,267 JBrowse link
G AOC1 amine oxidase copper containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:119,037,498...119,046,875
Ensembl chr21:119,038,356...119,047,279 		JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:43,140,076...43,349,962
Ensembl chr 9:43,316,598...43,349,602 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr22:86,648,924...86,722,006
Ensembl chr22:86,651,076...86,721,948 		JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G ASB10 ankyrin repeat and SOCS box containing 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,360,034...119,372,779
Ensembl chr21:119,360,450...119,371,197 		JBrowse link
G ASIC3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,226,940...119,234,626
Ensembl chr21:119,230,796...119,234,696 		JBrowse link
G ASIP agouti signaling protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,479,328...38,568,756 JBrowse link
G ATG9B autophagy related 9B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,197,387...119,209,578
Ensembl chr21:119,198,125...119,206,599 		JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:10,569,052...10,611,518
Ensembl chr 1:10,569,235...10,611,323 		JBrowse link
G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25617006 PMID:26512958 PMID:28492532 NCBI chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:1,222,994...1,237,823
Ensembl chr 5:1,227,910...1,236,898 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:2547171 PMID:9536098 PMID:12166659 PMID:15454078 PMID:15863612 More... NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr25:28,288,483...28,363,231
Ensembl chr25:28,289,342...28,363,327 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr21:66,449,154...66,937,643
Ensembl chr21:66,770,578...66,934,898 		JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:1,837,811...1,972,523
Ensembl chr11:1,841,070...1,971,874 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:20817017 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 More... NCBI chr 9:18,075,436...18,470,985
Ensembl chr 9:18,332,165...18,469,617 		JBrowse link
G CALM2 calmodulin 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24917665 More... NCBI chr14:60,027,884...60,042,041
Ensembl chr14:60,027,801...60,044,951
Ensembl chr 6:60,027,801...60,044,951
Ensembl chr24:60,027,801...60,044,951 		JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 6:39,957,012...39,966,562
Ensembl chr 6:39,957,320...39,966,581
Ensembl chr24:39,957,320...39,966,581
Ensembl chr14:39,957,320...39,966,581 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		JBrowse link
G CASQ2 calsequestrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12386154 PMID:20301466 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr20:17,937,089...18,008,433
Ensembl chr20:17,937,524...18,008,786 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,781,107...37,938,150
Ensembl chr 2:37,781,273...37,937,253 		JBrowse link
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:113,989,862...113,998,187
Ensembl chr 8:113,990,152...113,998,261 		JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr26:9,772,948...9,794,395 JBrowse link
G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,235,687...119,240,163 JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		JBrowse link
G CHMP4B charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,093,909...38,139,932
Ensembl chr 2:38,093,829...38,140,367 		JBrowse link
G CHPF2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,417,357...119,423,601
Ensembl chr21:119,418,793...119,423,455 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:115,026,809...115,220,558
Ensembl chr11:115,025,045...115,219,356 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,714,168...45,738,368 JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G CRYGN crystallin gamma N ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,609,764...119,621,449
Ensembl chr21:119,612,087...119,618,488 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 PMID:29255176 More... NCBI chr 1:45,792,106...45,813,715
Ensembl chr 1:45,803,243...45,813,800 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588 PMID:28492532 NCBI chr 9:63,669,561...65,406,737 JBrowse link
G CTRL chymotrypsin like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:59,508,058...59,510,392
Ensembl chr 5:59,508,380...59,510,330 		JBrowse link
G CUNH20orf144 chromosome unknown C20orf144 homolog ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,953,322...37,956,796
Ensembl chr 2:37,955,288...37,956,748 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:56,865,498...56,888,196
Ensembl chr21:56,865,312...56,886,698 		JBrowse link
G DCP1B decapping mRNA 1B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:1,992,583...2,057,717
Ensembl chr11:1,999,353...2,057,713 		JBrowse link
G DIP2A disco interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:90,058,331...90,167,278
Ensembl chr 2:90,059,346...90,167,019 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217 PMID:24033266 PMID:24690944 PMID:25741868 PMID:26467025 More... NCBI chr  X:29,543,003...32,218,011 JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842 		JBrowse link
G DPP6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr21:121,882,842...123,035,787
Ensembl chr21:122,441,548...123,035,792 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24832006 PMID:25741868 PMID:28492532 PMID:30371277 More... NCBI chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:16467215 PMID:16774985 PMID:17576681 PMID:18382419 More... NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G DYNLRB1 dynein light chain roadblock-type 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,813,852...38,839,905
Ensembl chr 2:38,825,574...38,839,903 		JBrowse link
G E2F1 E2F transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326 		JBrowse link
G EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,417,994...39,452,398
Ensembl chr 2:39,417,590...39,452,497 		JBrowse link
G EIF2S2 eukaryotic translation initiation factor 2 subunit beta ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,366,880...38,391,904 JBrowse link
G ELMOD2 ELMO domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:87,456,626...87,486,523
Ensembl chr 7:87,456,645...87,486,515 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:90,591,198...90,642,331
Ensembl chr 4:90,600,690...90,637,563 		JBrowse link
G FASTK Fas activated serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,259,012...119,263,257
Ensembl chr21:119,259,115...119,263,193 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G FSIP2 fibrous sheath interacting protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:71,304,678...71,397,762
Ensembl chr10:71,305,374...71,397,698 		JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
G GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:120,207,410...120,287,339
Ensembl chr21:120,207,464...120,286,688 		JBrowse link
G GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:120,135,407...120,199,572 JBrowse link
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:56,564,766...56,574,634
Ensembl chr21:56,565,360...56,574,161 		JBrowse link
G GBX1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,331,203...119,354,622 JBrowse link
G GGT7 gamma-glutamyltransferase 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,148,771...39,177,730
Ensembl chr 2:39,148,131...39,177,691 		JBrowse link
G GIMAP1 GTPase, IMAP family member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,899,330...118,904,086
Ensembl chr21:118,899,352...118,904,277 		JBrowse link
G GIMAP2 GTPase, IMAP family member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,853,782...118,862,061
Ensembl chr21:118,853,955...118,861,817 		JBrowse link
G GIMAP4 GTPase, IMAP family member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,758,814...118,765,237
Ensembl chr21:118,761,379...118,765,296 		JBrowse link
G GIMAP6 GTPase, IMAP family member 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,804,930...118,812,155
Ensembl chr21:118,804,929...118,812,073 		JBrowse link
G GIMAP7 GTPase, IMAP family member 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,701,093...118,707,469 JBrowse link
G GIMAP8 GTPase, IMAP family member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,596,421...118,630,871
Ensembl chr21:118,596,947...118,630,861 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr22:11,623,394...11,646,464
Ensembl chr22:11,623,408...11,647,191 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr25:11,956,218...12,154,532 JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 More... NCBI chr15:76,617,122...76,680,508
Ensembl chr15:76,617,441...76,677,713 		JBrowse link
G GSS glutathione synthetase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,230,629...39,258,511
Ensembl chr 2:39,230,487...39,254,648 		JBrowse link
G GUF1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr27:5,590,810...5,611,171
Ensembl chr27:5,590,912...5,611,230 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr26:10,107,342...10,158,885
Ensembl chr26:10,110,579...10,156,292 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr23:78,888,087...78,908,608
Ensembl chr23:78,888,291...78,906,995 		JBrowse link
G HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:62,051,098...62,099,986
Ensembl chr 9:62,052,027...62,099,221 		JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:7,795,996...7,839,506
Ensembl chr 6:7,796,045...7,839,244 		JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,929,339...45,943,749 JBrowse link
G ILK integrin linked kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:58,214,630...58,221,770
Ensembl chr 1:58,213,310...58,221,217 		JBrowse link
G INTS8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:89,790,758...89,846,764
Ensembl chr 8:89,790,758...89,850,755 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,671,170...38,808,621
Ensembl chr 2:38,701,396...38,805,005 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:19,626,035...19,703,589
Ensembl chr 2:19,626,832...19,703,765 		JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 susceptibility ISO DNA:polymorphism:cds:p.D85N(human)
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 RGD
ClinVar		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... RGD:11072353 NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated		 ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12185453 More... NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:65,699,558...65,710,305
Ensembl chr 1:65,700,156...65,700,467 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 More... NCBI chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 More... NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 NCBI chr11:21,624,963...21,634,940
Ensembl chr11:21,624,970...21,634,042 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 severity ISO DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human)
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 RGD
ClinVar		 PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:234518 More... RGD:7247613 NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819 		JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr25:28,379,019...28,434,172
Ensembl chr25:28,379,014...28,434,170 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr13:61,596,940...61,748,359
Ensembl chr13:61,596,905...61,748,022 		JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:45,130,015...45,199,585
Ensembl chr 9:45,128,134...45,198,106 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,502,763...45,556,828 JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10580070 PMID:11102973 PMID:12920062 PMID:17334235 PMID:18414213 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G LOC103221832 ATP-binding cassette sub-family F member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:41,866,152...41,885,673
Ensembl chr17:41,866,062...41,884,972 		JBrowse link
G LOC103230356 uncharacterized LOC103230356 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr25:29,230,358...29,380,617
Ensembl chr25:29,233,558...29,379,922 		JBrowse link
G LOC103231478 myosin-6 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:26383259 More... NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107 		JBrowse link
G LOC103231480 myosin-7 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:23283745 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771 		JBrowse link
G LOC103235292 troponin I, cardiac muscle ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22464770 PMID:24503780 PMID:25524337 PMID:25741868 PMID:26440512 More... NCBI chr 6:47,746,293...47,752,118
Ensembl chr 6:47,745,386...47,752,204 		JBrowse link
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:96,714,031...97,606,153 JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:7,337,918...7,351,914
Ensembl chr 6:7,346,243...7,351,855 		JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:56,834,845...56,856,287
Ensembl chr21:56,835,305...56,856,108 		JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,857,235...38,858,955
Ensembl chr 2:38,857,299...38,858,505 		JBrowse link
G MDN1 midasin AAA ATPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:14,403,372...14,578,351 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G MYBPC3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:208206 PMID:16335287 PMID:16715312 PMID:18533079 PMID:18957093 More... NCBI chr 1:17,964,581...17,986,351
Ensembl chr 1:17,963,706...17,985,758 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:24,241,153...24,256,042
Ensembl chr20:24,241,758...24,253,001 		JBrowse link
G MYH7B myosin heavy chain 7B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,258,541...39,304,569
Ensembl chr 2:39,287,302...39,305,798 		JBrowse link
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11174330 PMID:20641121 PMID:21239446 PMID:22131351 PMID:23426552 More... NCBI chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185 		JBrowse link
G MYLK2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:36,207,013...36,223,292
Ensembl chr 2:36,207,901...36,223,307 		JBrowse link
G MYLK4 myosin light chain kinase family member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:69,398,995...69,486,934 JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:63,173,243...63,279,777
Ensembl chr 9:63,174,804...63,279,133 		JBrowse link
G NCOA6 nuclear receptor coactivator 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,013,364...39,129,723
Ensembl chr 2:39,013,232...39,129,658 		JBrowse link
G NEBL nebulette ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr 9:20,620,745...20,999,148 JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,950,024...37,967,314 JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:5,547,275...5,579,006
Ensembl chr 9:5,567,225...5,577,539 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567 NCBI chr20:55,229,093...55,286,703
Ensembl chr20:55,234,782...55,285,755 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NLRP13 NLR family pyrin domain containing 13 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:48,476,257...48,520,578
Ensembl chr 6:48,482,814...48,520,365 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:110,541,777...110,559,846
Ensembl chr 1:110,545,190...110,560,149 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,174,829...119,196,840 JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:77,480,398...77,583,985
Ensembl chr 2:77,577,029...77,580,496 		JBrowse link
G NUB1 negative regulator of ubiquitin like proteins 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,525,757...119,559,412
Ensembl chr21:119,525,932...119,560,886 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,757,414...45,763,690 JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,859,142...38,965,926
Ensembl chr 2:38,859,474...38,965,731 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496 		JBrowse link
G PKD1L2 polycystin-1-like protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:66,555,686...66,662,670
Ensembl chr 5:66,555,938...66,661,802 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 More... NCBI chr11:32,225,743...32,333,951
Ensembl chr11:32,225,600...32,333,615 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:28,650,604...29,059,435
Ensembl chr 2:28,650,421...28,915,290 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19931775 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,738,976...120,058,831
Ensembl chr21:119,738,967...119,970,972 		JBrowse link
G PROCR protein C receptor ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,464,322...39,481,498
Ensembl chr 2:39,476,110...39,481,641 		JBrowse link
G PROKR1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:38,462,668...38,474,901 JBrowse link
G PRSS12 serine protease 12 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:66,027,172...66,101,563
Ensembl chr 7:66,025,613...66,101,549 		JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:443,859...449,539
Ensembl chr 6:444,098...449,152 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21097842 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:43,009,167...43,018,347 JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25439098 PMID:26132555 NCBI chr23:42,757,963...42,767,393
Ensembl chr23:42,764,263...42,765,231 		JBrowse link
G PXMP4 peroxisomal membrane protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:37,997,919...38,013,423
Ensembl chr 2:37,998,072...38,013,289 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:44,878,015...44,960,610
Ensembl chr22:44,875,292...44,960,089 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622 		JBrowse link
G RALY RALY heterogeneous nuclear ribonucleoprotein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:38,271,971...38,360,097
Ensembl chr 2:38,271,924...38,358,379 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663 PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 9:103,583,722...103,775,391
Ensembl chr 9:103,703,569...103,777,934 		JBrowse link
G REM1 RRAD and GEM like GTPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:35,887,264...35,897,432
Ensembl chr 2:35,887,658...35,898,312 		JBrowse link
G REPIN1 replication initiator 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,512,581...118,517,945
Ensembl chr21:118,513,570...118,518,862 		JBrowse link
G RHEB Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,652,692...119,704,833
Ensembl chr21:119,652,127...119,703,458 		JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:2,690,430...3,176,794
Ensembl chr17:2,690,418...3,176,738 		JBrowse link
G RNF207 ring finger protein 207 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr20:125,518,231...125,530,249 JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23460944 PMID:25741868 PMID:26994242 PMID:28003660 PMID:28492532 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:11159936 PMID:15364606 PMID:15364613 PMID:16239587 PMID:16272262 More... NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291 PMID:19522081 PMID:21994374 PMID:22155597 PMID:22155598 More... NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:115,031,634...115,057,829
Ensembl chr 1:115,034,508...115,057,787 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr16:57,273,143...57,331,677
Ensembl chr16:57,282,252...57,331,035 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 1:109,507,121...109,528,512
Ensembl chr 1:109,509,979...109,528,721 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:539905 PMID:545017 PMID:617273 PMID:1097384 PMID:2437023 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SDC1 syndecan 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:87,499,732...87,523,122
Ensembl chr14:87,499,574...87,525,026 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224 		JBrowse link
G SIDT1 SID1 transmembrane family member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:67,232,377...67,324,862
Ensembl chr22:67,230,564...67,324,784 		JBrowse link
G SIRT6 sirtuin 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:3,924,230...3,932,583
Ensembl chr 6:3,924,230...3,932,590 		JBrowse link
G SLC2A5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:122,669,220...122,714,708
Ensembl chr20:122,683,373...122,716,540 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,240,352...119,258,920
Ensembl chr21:119,241,490...119,263,193 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:23,337,883...23,389,513
Ensembl chr20:23,337,699...23,389,362 		JBrowse link
G SLMAP sarcolemma associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:19,054,322...19,231,037
Ensembl chr22:19,054,673...19,232,336 		JBrowse link
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,423,755...119,461,959
Ensembl chr21:119,423,885...119,460,038 		JBrowse link
G SMIM11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25640679 PMID:28492532 NCBI chr 2:57,814,536...57,828,761 JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:1,801,975...1,829,823
Ensembl chr12:1,802,937...1,829,968 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr26:17,052,898...17,056,839
Ensembl chr26:17,052,976...17,056,245 		JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:96,467,289...96,907,278
Ensembl chr21:96,467,319...96,911,145 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591664 PMID:19684871 More... NCBI chr 2:37,703,002...37,737,529
Ensembl chr 2:37,702,971...37,737,423 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:44,979,675...45,355,753
Ensembl chr22:44,984,615...45,246,209 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:9536098 PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 More... NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		JBrowse link
G STK32B serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr27:41,225,325...41,638,650
Ensembl chr27:41,225,583...41,641,077 		JBrowse link
G SYK spleen associated tyrosine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:101,254,085...101,374,724
Ensembl chr12:101,260,061...101,349,856 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:58,213,261...58,214,658
Ensembl chr 1:58,213,310...58,214,581 		JBrowse link
G TCAP titin-cap ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26636822 More... NCBI chr16:66,500,535...66,503,455
Ensembl chr16:66,500,949...66,501,703 		JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:88,829,750...88,859,580
Ensembl chr 9:88,829,749...88,859,547 		JBrowse link
G TDRD6 tudor domain containing 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:25,573,189...25,588,368
Ensembl chr17:25,573,730...25,587,052 		JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27861123 PMID:30790670 NCBI chr 7:4,414,168...4,536,561
Ensembl chr 7:4,414,303...4,536,551 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		JBrowse link
G TGFBRAP1 transforming growth factor beta receptor associated protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:8,900,342...8,963,107
Ensembl chr14:8,898,587...8,942,148 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,355,889...45,378,134
Ensembl chr22:45,355,579...45,377,941 		JBrowse link
G TLNRD1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr26:2,388,914...2,391,944
Ensembl chr26:2,389,553...2,390,641 		JBrowse link
G TMEM176A transmembrane protein 176A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,992,217...118,996,469
Ensembl chr21:118,991,363...118,996,471 		JBrowse link
G TMEM176B transmembrane protein 176B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,982,623...119,015,521
Ensembl chr21:118,982,603...118,992,860 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25343256 PMID:25741868 PMID:28492532 NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
G TMPO thymopoietin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:93,815,870...93,852,577
Ensembl chr11:93,817,820...93,853,703 		JBrowse link
G TMUB1 transmembrane and ubiquitin like domain containing 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,263,465...119,266,067
Ensembl chr21:119,263,447...119,265,696 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr 2:529,470...531,798 JBrowse link
G TOP2A DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701 		JBrowse link
G TP53INP2 tumor protein p53 inducible nuclear protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,002,619...39,011,751
Ensembl chr 2:39,007,023...39,008,613 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome ClinVar PMID:24033266 PMID:25741868 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G TRHDE thyrotropin releasing hormone degrading enzyme ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:67,912,122...68,313,509
Ensembl chr11:67,912,138...68,315,962 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935 		JBrowse link
G TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 2:39,304,240...39,391,447
Ensembl chr 2:39,305,203...39,391,418 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:26046366 More... NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr22:45,817,048...45,843,878 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 More... NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:113,354,561...113,493,936
Ensembl chr20:113,355,676...113,494,386 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:97,104,325...97,257,317
Ensembl chr 8:97,103,220...97,257,440 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr24:70,945,412...70,969,489
Ensembl chr24:70,945,629...70,969,594 		JBrowse link
G UPP1 uridine phosphorylase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:10,686,600...10,707,181
Ensembl chr21:10,686,093...10,706,347 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487 		JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 9:57,253,219...57,375,947
Ensembl chr 9:57,255,166...57,376,028 		JBrowse link
G VSX1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555
G WDR25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr24:78,340,755...78,494,977
Ensembl chr24:78,340,794...78,494,971 		JBrowse link
G WDR26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr25:5,339,056...5,393,173 JBrowse link
G WDR86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr21:119,558,831...119,593,321 JBrowse link
G WWC2 WW and C2 domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:129,074,640...129,293,372
Ensembl chr 7:129,074,847...129,290,392 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:120,795,188...120,827,737
Ensembl chr21:120,795,212...120,827,706 		JBrowse link
G YME1L1 YME1 like 1 ATPase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:26,703,747...26,752,274
Ensembl chr 9:26,703,992...26,752,340 		JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:3,106,901...3,114,690
Ensembl chr 5:3,106,981...3,116,524 		JBrowse link
G ZNF341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr 2:38,020,915...38,081,559
Ensembl chr 2:38,028,765...38,080,814 		JBrowse link
G ZNF775 zinc finger protein 775 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr21:118,522,634...118,542,687 JBrowse link
G ZNF862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:118,404,425...118,433,456
Ensembl chr21:118,404,579...118,430,412 		JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Periodic paralysis, potassium-sensitive cardiodysrhythmic type | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features		 OMIM
ClinVar		 PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 More... NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 1:109,507,121...109,528,512
Ensembl chr 1:109,509,979...109,528,721 		JBrowse link
Jervell And Lange-Nielsen Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 OMIM
ClinVar		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
Jervell-Lange Nielsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome ClinVar PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome ClinVar
OMIM		 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
long QT syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More... NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		JBrowse link
G CALM2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24076290 More... NCBI chr14:60,027,884...60,042,041
Ensembl chr14:60,027,801...60,044,951
Ensembl chr 6:60,027,801...60,044,951
Ensembl chr24:60,027,801...60,044,951 		JBrowse link
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24563457 More... NCBI chr 6:39,957,012...39,966,562
Ensembl chr 6:39,957,320...39,966,581
Ensembl chr24:39,957,320...39,966,581
Ensembl chr14:39,957,320...39,966,581 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More... NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:40,003,475...40,016,690
Ensembl chr 6:40,004,348...40,016,621 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136 PMID:19279339 PMID:20716751 PMID:21606390 PMID:21606396 More... NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:39,989,915...39,995,714
Ensembl chr 6:39,989,903...39,990,910 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:260666 PMID:680268 PMID:1100946 PMID:1813917 PMID:2581653 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval OMIM
ClinVar		 PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:40,028,214...40,071,523
Ensembl chr 6:40,027,552...40,071,455 		JBrowse link
G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:39,977,057...39,983,592
Ensembl chr 6:39,977,864...39,980,860 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 1:109,507,121...109,528,512
Ensembl chr 1:109,509,979...109,528,721 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:19684871 PMID:20009079 PMID:22584458 PMID:23834499 PMID:23861362 More... NCBI chr 2:37,703,002...37,737,529
Ensembl chr 2:37,702,971...37,737,423 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 6:40,073,924...40,100,822
Ensembl chr 6:40,075,007...40,100,885 		JBrowse link
Long QT Syndrome 1/2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:10086971 PMID:10973849 PMID:16199547 PMID:16922724 PMID:19862833 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:8528244 PMID:10086971 PMID:10376919 PMID:10973849 PMID:12702160 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
long QT syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,522,773...110,537,747
Ensembl chr 1:110,524,900...110,537,735 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,964,123...109,997,888
Ensembl chr 1:109,964,120...109,998,290 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,779,020...109,789,097 JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,267,125...110,297,072
Ensembl chr 1:110,264,523...110,297,629 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,475,073...110,490,431
Ensembl chr 1:110,480,738...110,491,508 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481 		JBrowse link
G CD3D CD3d molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,715,148...109,719,576
Ensembl chr 1:109,713,017...109,719,950 		JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,681,142...109,692,835
Ensembl chr 1:109,681,065...109,692,839 		JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,721,150...109,730,267
Ensembl chr 1:109,720,789...109,732,014 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,371,873...110,386,921 JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,253,792...110,267,251
Ensembl chr 1:110,254,723...110,265,597 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,128,450...110,172,383
Ensembl chr 1:110,135,471...110,167,463 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,469,312...110,474,859
Ensembl chr 1:110,469,794...110,474,440 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,566,126...110,572,800
Ensembl chr 1:110,566,174...110,571,880 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,348,860...110,359,394
Ensembl chr 1:110,349,475...110,359,345 		JBrowse link
G H2AFX histone H2AX ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,495,188...110,509,855
Ensembl chr 1:110,500,566...110,510,222 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,457,799...110,466,361
Ensembl chr 1:110,457,537...110,466,095 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,418,497...110,431,636
Ensembl chr 1:110,417,942...110,431,590 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,937,300...109,959,224
Ensembl chr 1:109,932,922...109,959,131 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,570,498...109,605,273 JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,635,053...109,645,142
Ensembl chr 1:109,633,493...109,645,145 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,609,152...109,631,914
Ensembl chr 1:109,604,671...109,631,990 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,561,132...110,566,097
Ensembl chr 1:110,561,101...110,566,634 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,541,777...110,559,846
Ensembl chr 1:110,545,190...110,560,149 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,001,516...110,053,166
Ensembl chr 1:110,002,591...110,052,831 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,386,840...110,389,492 JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,538,694...109,552,745
Ensembl chr 1:109,538,652...109,552,740 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17592081 PMID:20226894 More... NCBI chr 1:109,507,121...109,528,512
Ensembl chr 1:109,509,979...109,528,721 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,396,133...110,402,737
Ensembl chr 1:110,395,612...110,401,358 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,917,197...109,921,941 JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,389,582...110,395,135
Ensembl chr 1:110,389,914...110,394,959 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,053,372...110,093,741
Ensembl chr 1:110,053,438...110,081,748 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,912,976...109,917,097 JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:109,735,778...109,776,629
Ensembl chr 1:109,735,752...109,776,661 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,332,562...110,335,502
Ensembl chr 1:110,333,624...110,335,502 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 1:110,440,681...110,455,092
Ensembl chr 1:110,439,933...110,455,844 		JBrowse link
long QT syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: AKAP9-related condition | ClinVar Annotator: match by term: Long QT syndrome 11 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18093912 PMID:22378279 PMID:23174487 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
long QT syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18591664 PMID:19684871 PMID:20009079 More... NCBI chr 2:37,703,002...37,737,529
Ensembl chr 2:37,702,971...37,737,423 		JBrowse link
long QT syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Long QT syndrome 13 OMIM
ClinVar		 PMID:20560207 PMID:24574546 PMID:25417227 PMID:25741868 PMID:26350513 More... NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
long QT syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM1 calmodulin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23040497 PMID:23388215 PMID:24076290 More... NCBI chr24:68,133,446...68,145,117
Ensembl chr24:68,133,428...68,145,180 		JBrowse link
long QT syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 15 OMIM
ClinVar		 PMID:11569915 PMID:23388215 PMID:24917665 PMID:25741868 PMID:26164367 More... NCBI chr14:60,027,884...60,042,041
Ensembl chr14:60,027,801...60,044,951
Ensembl chr 6:60,027,801...60,044,951
Ensembl chr24:60,027,801...60,044,951 		JBrowse link
long QT syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25460178 PMID:25741868 PMID:28492532 More... NCBI chr 6:39,957,012...39,966,562
Ensembl chr 6:39,957,320...39,966,581
Ensembl chr24:39,957,320...39,966,581
Ensembl chr14:39,957,320...39,966,581 		JBrowse link
long QT syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:23861362 PMID:28492532 NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:25741868 PMID:26230511 More... NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced OMIM
ClinVar		 PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9536098 PMID:9570196 PMID:9654228 PMID:10477533 PMID:10973849 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609 PMID:21321465 PMID:22581653 PMID:22685113 PMID:25741868 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 2:37,703,002...37,737,529
Ensembl chr 2:37,702,971...37,737,423 		JBrowse link
Long QT Syndrome 2/3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 PMID:22685113 PMID:23396983 PMID:23861362 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
Long QT Syndrome 2/5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:8899564 PMID:9445165 PMID:10807545 PMID:12402336 PMID:14661677 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:10973849 PMID:11854117 PMID:15051636 PMID:22581653 PMID:24204727 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
long QT syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN5A sodium voltage-gated channel alpha subunit 5 treatment ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Long QT syndrome 3		 RGD
OMIM
ClinVar		 PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:1097384 More... RGD:13831293 NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
Long QT Syndrome 3/6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic ClinVar PMID:16922724 PMID:22581653 NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic ClinVar PMID:9495298 PMID:9506831 PMID:10200053 PMID:10508990 PMID:10618304 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
long QT syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 More... NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
long QT syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to OMIM
ClinVar		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
long QT syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr 2:78,703,815...78,752,183 JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to OMIM
ClinVar		 PMID:10219239 PMID:10220144 PMID:10973849 PMID:10984545 PMID:11034315 More... NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G RCAN1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr 2:78,561,212...78,658,023
Ensembl chr 2:78,562,795...78,571,498 		JBrowse link
G SMIM11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr 2:57,814,536...57,828,761 JBrowse link
long QT syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long qt syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		JBrowse link
long QT syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to OMIM
ClinVar		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677 PMID:15840476 PMID:17060380 PMID:19716085 PMID:19862833 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 9 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		JBrowse link
Romano-Ward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More... NCBI chr 7:60,487,776...61,174,351
Ensembl chr 7:60,938,523...61,175,519 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:14672715 PMID:15318349 PMID:17556197 PMID:24033266 PMID:25741868 More... NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr 2:78,500,755...78,557,275
Ensembl chr 2:78,503,317...78,503,757 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr 2:57,833,459...57,841,052
Ensembl chr 2:57,833,629...57,834,000 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:260666 PMID:680268 PMID:1100946 PMID:1813917 PMID:2581653 More... NCBI chr21:119,123,601...119,156,985
Ensembl chr21:119,124,007...119,156,794 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr16:51,448,821...51,461,801
Ensembl chr16:51,452,567...51,453,850 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:17556197 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 1:109,507,121...109,528,512
Ensembl chr 1:109,509,979...109,528,721 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G SNTA1 syntrophin alpha 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28837624 PMID:30847666 More... NCBI chr 2:37,703,002...37,737,529
Ensembl chr 2:37,702,971...37,737,423 		JBrowse link
Timothy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 OMIM
ClinVar		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    syndrome 9981
      long QT syndrome 289
        Andersen-Tawil syndrome 2
        Jervell-Lange Nielsen syndrome + 2
        Long QT Syndrome 1/2 2
        Long QT Syndrome 2/3 2
        Long QT Syndrome 2/5 2
        Long QT Syndrome 3/6 2
        Romano-Ward Syndrome 14
        Timothy syndrome 1
        long QT syndrome 1 24
        long QT syndrome 10 + 38
        long QT syndrome 11 1
        long QT syndrome 12 1
        long QT syndrome 13 1
        long QT syndrome 14 1
        long QT syndrome 15 1
        long QT syndrome 16 1
        long QT syndrome 2 6
        long QT syndrome 3 1
        long QT syndrome 4 1
        long QT syndrome 5 1
        long QT syndrome 6 5
        long QT syndrome 8 1
        long QT syndrome 9 4
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      cardiovascular system disease 4266
        heart disease 2993
          cardiomyopathy 1198
            intrinsic cardiomyopathy 871
              long QT syndrome 289
                Andersen-Tawil syndrome 2
                Jervell-Lange Nielsen syndrome + 2
                Long QT Syndrome 1/2 2
                Long QT Syndrome 2/3 2
                Long QT Syndrome 2/5 2
                Long QT Syndrome 3/6 2
                Romano-Ward Syndrome 14
                Timothy syndrome 1
                long QT syndrome 1 24
                long QT syndrome 10 + 38
                long QT syndrome 11 1
                long QT syndrome 12 1
                long QT syndrome 13 1
                long QT syndrome 14 1
                long QT syndrome 15 1
                long QT syndrome 16 1
                long QT syndrome 2 6
                long QT syndrome 3 1
                long QT syndrome 4 1
                long QT syndrome 5 1
                long QT syndrome 6 5
                long QT syndrome 8 1
                long QT syndrome 9 4
paths to the root