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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:A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
Synonyms:exact_synonym: LQT;   acquired long QT syndrome;   congenital long QT syndrome;   long Q-T syndrome
 related_synonym: long QT interval, drug induced, association with;   long QT syndrome, drug-associated
 primary_id: MESH:D008133
 alt_id: RDO:0002697
 xref: GARD:6922;   ICD10CM:I45.81;   ICD9CM:426.82;   NCI:C34786;   NCI:C85049;   OMIM:PS192500;   ORDO:101016
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,028,450...151,047,782
Ensembl chr 7:151,028,422...151,047,782
JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,401...21,942,529
JBrowse link
G ABCF1 ATP binding cassette subfamily F member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:30,571,442...30,591,522
Ensembl chr 6:30,571,393...30,597,179
JBrowse link
G ABCF2 ATP binding cassette subfamily F member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,211,484...151,227,205
Ensembl chr 7:151,211,484...151,227,205
Ensembl chr 7:151,211,484...151,227,205
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,874,942...34,927,962
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G ACTL10 actin like 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,666,943...33,668,525
Ensembl chr20:33,666,943...33,668,525
Ensembl chr20:33,666,943...33,668,525
JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,085,867...151,144,435
Ensembl chr 7:151,085,831...151,144,436
JBrowse link
G AHCY adenosylhomocysteinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,235,012...34,311,976
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AKAP8 A-kinase anchoring protein 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:15,353,385...15,379,787
Ensembl chr19:15,353,385...15,379,798
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:18093912, PMID:22584458, PMID:23174487, PMID:23861362, PMID:24033266, PMID:24123366, PMID:24981977, PMID:25172201, PMID:25326637, PMID:25467552, PMID:25649125, PMID:25741868, PMID:26132555, PMID:26159999, PMID:26230511, PMID:26671970, PMID:26704558, PMID:26743238, PMID:27332903, PMID:27707468, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28666525, PMID:28750076, PMID:29574703, PMID:30276209 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G ANK2 ankyrin 2 susceptibility IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:7485162, PMID:11334825, PMID:12571597, PMID:15075330, PMID:15178757, PMID:15970537, PMID:16253912, PMID:16650839, PMID:16864073, PMID:17161064, PMID:17242276, PMID:17261669, PMID:17928548, PMID:17940615, PMID:18439406, PMID:18782775, PMID:18832177, PMID:19394342, PMID:19862833, PMID:22411828, PMID:22542183, PMID:22581653, PMID:22995991, PMID:23174487, PMID:23396983, PMID:23631430, PMID:23861362, PMID:24025405, PMID:24033266, PMID:24267886, PMID:24448499, PMID:24981977, PMID:25333069, PMID:25351510, PMID:25363768, PMID:25456501, PMID:25632041, PMID:25649125, PMID:25650408, PMID:25741868, PMID:26132555, PMID:26159999, PMID:26164358, PMID:26168218, PMID:26230511, PMID:26350513, PMID:26704558, PMID:27110552, PMID:27435932, PMID:27784853, PMID:27875062, PMID:27930701, PMID:28074886, PMID:28216384, PMID:28341588, PMID:28492532, PMID:28554332, PMID:28600387, PMID:28736713, PMID:28750076, PMID:29071820, PMID:29198934, PMID:29247119, PMID:29431110, PMID:29790872, PMID:29874177, PMID:30311386, PMID:30564305, PMID:30615648, PMID:12571597 RGD:734572 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G ANKRD31 ankyrin repeat domain 31 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:75,068,297...75,236,922
Ensembl chr 5:75,068,275...75,236,911
Ensembl chr 5:75,068,275...75,236,911
JBrowse link
G AOC1 amine oxidase copper containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,824,875...150,861,504
Ensembl chr 7:150,824,627...150,861,504
JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265
Ensembl chr10:48,446,036...48,656,265
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:19,966,727...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASB10 ankyrin repeat and SOCS box containing 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,175,698...151,187,792
Ensembl chr 7:151,175,698...151,187,832
JBrowse link
G ASIC3 acid sensing ion channel subunit 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,048,292...151,052,756
Ensembl chr 7:151,048,292...151,052,756
JBrowse link
G ASIP agouti signaling protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G ATG9B autophagy related 9B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,012,209...151,028,267
Ensembl chr 7:151,012,209...151,024,499
JBrowse link
G ATL3 atlastin GTPase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:63,624,082...63,671,974
Ensembl chr11:63,624,087...63,671,921
JBrowse link
G BAIAP3 BAI1 associated protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,601...1,349,441
Ensembl chr16:1,333,601...1,349,441
JBrowse link
G C20orf144 chromosome 20 open reading frame 144 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,662,327...33,663,908
Ensembl chr20:33,662,327...33,665,619
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:12166659, PMID:15454078, PMID:15863612, PMID:17224476, PMID:18250309, PMID:19074970, PMID:20031608, PMID:20817017, PMID:21307850, PMID:21685391, PMID:21878566, PMID:21910241, PMID:22581653, PMID:22840528, PMID:23174487, PMID:23414114, PMID:23575362, PMID:23578275, PMID:23580742, PMID:23631430, PMID:23677916, PMID:23690510, PMID:23861362, PMID:23979604, PMID:24033266, PMID:24055113, PMID:24183960, PMID:24321233, PMID:24439875, PMID:24690944, PMID:24728418, PMID:24773605, PMID:24981977, PMID:25184293, PMID:25333069, PMID:25341504, PMID:25447171, PMID:25633834, PMID:25637381, PMID:25650408, PMID:25661095, PMID:25691416, PMID:25741868, PMID:25974115, PMID:26159999, PMID:26173111, PMID:26227324, PMID:26230511, PMID:26253506, PMID:26386135, PMID:26498160, PMID:26743238, PMID:26822303, PMID:27005929, PMID:27218670, PMID:27231019, PMID:27502440, PMID:27662471, PMID:27711072, PMID:27871843, PMID:27920829, PMID:27930701, PMID:28341588, PMID:28492532, PMID:28493952, PMID:28600387, PMID:28616568, PMID:28750076, PMID:29016939, PMID:29046645, PMID:29071820, PMID:29568937, PMID:30025578, PMID:30172029, PMID:30279520, PMID:30311386, PMID:30345660, PMID:30662450 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:20031608, PMID:20817017, PMID:22581653, PMID:22840528, PMID:23414114, PMID:23575362, PMID:23677916, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24690944, PMID:24728418, PMID:24981977, PMID:25184293, PMID:25447171, PMID:25633834, PMID:25637381, PMID:25650408, PMID:25661095, PMID:25741868, PMID:26159999, PMID:26173111, PMID:26230511, PMID:26386135, PMID:27005929, PMID:27218670, PMID:27502440, PMID:27662471, PMID:27711072, PMID:27871843, PMID:27930701, PMID:28492532, PMID:28493952, PMID:28750076, PMID:29046645, PMID:29568937, PMID:30279520, PMID:30345660 NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link
G CACNA1C-AS2 CACNA1C antisense RNA 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,668,500...2,672,220
Ensembl chr12:2,668,500...2,672,220
JBrowse link
G CACNA1C-AS4 CACNA1C antisense RNA 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,220,537...2,223,481
Ensembl chr12:2,219,485...2,223,479
JBrowse link
G CACNA1C-IT3 CACNA1C intronic transcript 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,269,776...2,288,745
Ensembl chr12:2,269,776...2,288,937
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,777
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:28492532 NCBI chr10:18,140,424...18,545,881
Ensembl chr10:18,140,677...18,543,557
Ensembl chr10:18,140,677...18,543,557
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:09536092, PMID:9537420, PMID:10227634, PMID:10746614, PMID:11251997, PMID:11353417, PMID:11431690, PMID:11756609, PMID:11805270, PMID:11884389, PMID:12082049, PMID:12269726, PMID:12666119, PMID:12807393, PMID:12839838, PMID:12939441, PMID:14633633, PMID:14647208, PMID:14672715, PMID:15099591, PMID:15314133, PMID:15318349, PMID:15564037, PMID:15580566, PMID:15668980, PMID:16723230, PMID:16730439, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:17537631, PMID:17556197, PMID:17897828, PMID:18253147, PMID:18509671, PMID:18583131, PMID:18930476, PMID:19238754, PMID:19380584, PMID:19697367, PMID:19773168, PMID:20472890, PMID:21182936, PMID:21294223, PMID:21404291, PMID:21610159, PMID:22245016, PMID:22378279, PMID:22581547, PMID:22584458, PMID:22595201, PMID:23465283, PMID:23631430, PMID:23640888, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24070816, PMID:24123366, PMID:24503780, PMID:24917393, PMID:25351510, PMID:25741868, PMID:25757662, PMID:26132555, PMID:26159999, PMID:26185955, PMID:26467025, PMID:26498160, PMID:27061274, PMID:27066573, PMID:27184587, PMID:27312022, PMID:27483260, PMID:27600940, PMID:27772553, PMID:27854218, PMID:27930701, PMID:28232187, PMID:28407228, PMID:28492532, PMID:28837624, PMID:28898996, PMID:28981925, PMID:29396561, PMID:29501670, PMID:29961767, PMID:29970176, PMID:30055862, PMID:30153853, PMID:30704477, PMID:31043699 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,490,070...33,650,031
Ensembl chr20:33,490,075...33,650,036
JBrowse link
G CCN3 cellular communication network factor 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434
JBrowse link
G CD276 CD276 molecule IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:73,683,966...73,714,518
Ensembl chr15:73,683,966...73,714,514
JBrowse link
G CDK5 cyclin dependent kinase 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620
Ensembl chr22:46,360,834...46,537,620
Ensembl chr22:46,360,834...46,537,620
JBrowse link
G CHMP4B charged multivesicular body protein 4B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,811,348...33,854,366
Ensembl chr20:33,811,348...33,854,366
JBrowse link
G CHPF2 chondroitin polymerizing factor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,232,483...151,238,827
Ensembl chr 7:151,232,489...151,238,827
JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320
JBrowse link
G CRYGN crystallin gamma N IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,428,832...151,448,790
Ensembl chr 7:151,428,835...151,440,813
Ensembl chr 7:151,428,835...151,440,813
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:28790153 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588, PMID:28492532 NCBI chr10:65,912,523...67,696,217
Ensembl chr10:65,912,523...67,696,195
JBrowse link
G CTRL chymotrypsin like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:67,929,574...67,931,862
Ensembl chr16:67,927,640...67,932,365
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,112,153...92,134,803
JBrowse link
G CYP51A1-AS1 CYP51A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,604...92,180,725
JBrowse link
G DIP2A disco interacting protein 2 homolog A IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:46,458,891...46,571,226
Ensembl chr21:46,458,891...46,570,015
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217, PMID:24033266, PMID:24690944, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17105751, PMID:18678517, PMID:19039334, PMID:20031616, PMID:20031617, PMID:20716751, PMID:20864495, PMID:21606390, PMID:23810883, PMID:23861362, PMID:24033266, PMID:24055113, PMID:25741868, PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,498,177...31,549,008
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16774985, PMID:18382419, PMID:19863551, PMID:21062920, PMID:21397041, PMID:21606390, PMID:21606396, PMID:21723241, PMID:21859740, PMID:23299917, PMID:23861362, PMID:24033266, PMID:24070718, PMID:24125834, PMID:24503780, PMID:25741868, PMID:27097650, PMID:28074886, PMID:28416588, PMID:28492532, PMID:28759816 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G DYNLRB1 dynein light chain roadblock-type 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,515,602...34,540,958
Ensembl chr20:34,516,409...34,540,958
JBrowse link
G E2F1 E2F transcription factor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,115,364...35,147,336
Ensembl chr20:35,115,364...35,147,336
JBrowse link
G EIF2S2 eukaryotic translation initiation factor 2 subunit beta IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,088,309...34,112,243
Ensembl chr20:34,088,309...34,112,243
JBrowse link
G ELMOD2 ELMO domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:140,524,146...140,553,770
Ensembl chr 4:140,524,168...140,553,770
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:96,760,273...96,935,983
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FASTK Fas activated serine/threonine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,076,621...151,080,861
Ensembl chr 7:151,076,593...151,080,866
JBrowse link
G FGF2 fibroblast growth factor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:185,738,804...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G FSIP2-AS1 FSIP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:185,783,691...185,800,151
Ensembl chr 2:185,652,374...185,800,151
JBrowse link
G GAA glucosidase alpha, acid IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr17:80,101,535...80,119,881
Ensembl chr17:80,101,556...80,119,881
JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,447,448...92,494,631
Ensembl chr 7:92,447,482...92,460,075
JBrowse link
G GBX1 gastrulation brain homeobox 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,148,589...151,167,548
Ensembl chr 7:151,148,589...151,174,745
JBrowse link
G GGT7 gamma-glutamyltransferase 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,844,720...34,872,857
Ensembl chr20:34,844,720...34,872,856
JBrowse link
G GIMAP1 GTPase, IMAP family member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,716,613...150,724,284
Ensembl chr 7:150,716,606...150,724,284
JBrowse link
G GIMAP2 GTPase, IMAP family member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,685,706...150,693,641
Ensembl chr 7:150,685,697...150,693,641
JBrowse link
G GIMAP4 GTPase, IMAP family member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,567,390...150,573,953
Ensembl chr 7:150,567,369...150,573,953
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
JBrowse link
G GIMAP6 GTPase, IMAP family member 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,625,375...150,632,385
Ensembl chr 7:150,625,375...150,632,648
JBrowse link
G GIMAP7 GTPase, IMAP family member 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,514,872...150,521,073
Ensembl chr 7:150,514,872...150,521,073
JBrowse link
G GIMAP8 GTPase, IMAP family member 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,450,630...150,479,395
Ensembl chr 7:150,450,630...150,479,393
JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
ClinVar PMID:15140536, PMID:17967976, PMID:19606473, PMID:19815826, PMID:22995991, PMID:23465283, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24715918, PMID:25741868, PMID:25998140, PMID:28492532, PMID:28837624, PMID:30311386 NCBI chr 3:32,106,620...32,168,715
Ensembl chr 3:32,105,689...32,168,713
Ensembl chr 3:32,105,689...32,168,713
JBrowse link
G GSS glutathione synthetase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G GUF1 GTP binding elongation factor GUF1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HK3 hexokinase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:176,880,869...176,899,373
Ensembl chr 5:176,880,869...176,899,346
JBrowse link
G HKDC1 hexokinase domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:69,220,303...69,267,552
Ensembl chr10:69,220,332...69,267,552
JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:8,444,575...8,489,114
Ensembl chr19:8,444,767...8,489,114
JBrowse link
G ILK integrin linked kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:6,603,748...6,610,873
Ensembl chr11:6,603,708...6,610,874
JBrowse link
G INTS8 integrator complex subunit 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:94,823,287...94,894,664
Ensembl chr 8:94,813,311...94,881,746
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,241...34,540,748
JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:44,106,590...44,187,946
Ensembl chr20:44,111,695...44,187,578
Ensembl chr20:44,111,695...44,187,578
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.D85N(human)
ClinVar
CTD
PMID:1939241, PMID:7828904, PMID:8899564, PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:9834138, PMID:10400998, PMID:10428953, PMID:10807545, PMID:10973849, PMID:11320260, PMID:11692163, PMID:11874988, PMID:12402336, PMID:12566567, PMID:14499862, PMID:14510655, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:15840476, PMID:16132053, PMID:16155735, PMID:16266404, PMID:16379539, PMID:16414944, PMID:16487223, PMID:16818210, PMID:16823764, PMID:16887036, PMID:16914890, PMID:16922724, PMID:16945797, PMID:17016049, PMID:17130521, PMID:17161064, PMID:17210839, PMID:17341399, PMID:17597962, PMID:18329740, PMID:18426444, PMID:18752142, PMID:18776039, PMID:19008479, PMID:19214780, PMID:19219384, PMID:19305408, PMID:19322600, PMID:19340287, PMID:19521339, PMID:19695459, PMID:19716085, PMID:19841298, PMID:19862833, PMID:19907016, PMID:20541041, PMID:20823649, PMID:21070882, PMID:21244686, PMID:21576493, PMID:21712262, PMID:22100668, PMID:22166941, PMID:22378279, PMID:22429796, PMID:22471742, PMID:22581653, PMID:23098067, PMID:23124029, PMID:23174487, PMID:23382499, PMID:23510998, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:24561134, PMID:24606995, PMID:24631775, PMID:24667783, PMID:24710009, PMID:25037568, PMID:25637381, PMID:25650408, PMID:25737393, PMID:25741868, PMID:25916402, PMID:25956966, PMID:25998140, PMID:26132555, PMID:26159999, PMID:26187847, PMID:26220970, PMID:26410412, PMID:26715165, PMID:26743238, PMID:26899768, PMID:26926294, PMID:27784853, PMID:28003625, PMID:28176637, PMID:28472724, PMID:28492532, PMID:28767663, PMID:28988457, PMID:29247119, PMID:29261713, PMID:29625280, PMID:29672598, PMID:29766885, PMID:30020974, PMID:30123799, PMID:30311386, PMID:30461122, PMID:30530868, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648, PMID:31521807, PMID:31535183, PMID:9445165, PMID:19695459, PMID:15840476 RGD:1580499, RGD:11072353, RGD:1580502 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP
EXP
ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired long QT syndrome
ClinVar
CTD
PMID:10219239, PMID:10220144, PMID:10984545, PMID:11468227, PMID:12185453, PMID:12402336, PMID:14510655, PMID:14661677, PMID:14760488, PMID:15599693, PMID:15840476, PMID:16922724, PMID:17161064, PMID:17210839, PMID:17275752, PMID:18006462, PMID:19716085, PMID:20042375, PMID:20817017, PMID:22378279, PMID:22581653, PMID:22677073, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24403551, PMID:24606995, PMID:24631775, PMID:25333069, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26220970, PMID:26633542, PMID:27435932, PMID:27650965, PMID:27920829, PMID:28492532, PMID:28600387, PMID:28794082, PMID:15840476 RGD:1580502 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,024...34,371,389
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868 NCBI chr11:74,454,841...74,467,729
Ensembl chr11:74,454,841...74,467,729
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP
EXP
ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2294929, PMID:7889573, PMID:8635257, PMID:8700910, PMID:8799887, PMID:8877771, PMID:8914737, PMID:9024139, PMID:9452080, PMID:9544837, PMID:9600240, PMID:9693036, PMID:9694858, PMID:9721698, PMID:9806971, PMID:9927399, PMID:10086971, PMID:10187793, PMID:10220144, PMID:10220146, PMID:10226095, PMID:10483966, PMID:10508236, PMID:10517660, PMID:10560244, PMID:10690305, PMID:10720411, PMID:10735633, PMID:10744792, PMID:10753933, PMID:10807545, PMID:10841244, PMID:10862094, PMID:10862104, PMID:10973849, PMID:10987356, PMID:10996323, PMID:11009462, PMID:11113008, PMID:11136691, PMID:11170080, PMID:11222472, PMID:11278781, PMID:11334843, PMID:11468227, PMID:11524404, PMID:11668638, PMID:11668641, PMID:11741928, PMID:11802537, PMID:11854117, PMID:11997281, PMID:12021266, PMID:12062363, PMID:12070109, PMID:12175777, PMID:12270925, PMID:12354768, PMID:12402336, PMID:12407082, PMID:12442276, PMID:12477631, PMID:12566525, PMID:12621127, PMID:12690509, PMID:12775564, PMID:12775586, PMID:12808265, PMID:12829173, PMID:12837749, PMID:12877697, PMID:12925462, PMID:14510655, PMID:14642687, PMID:14661677, PMID:14714110, PMID:14720170, PMID:14760488, PMID:14975928, PMID:14998624, PMID:15028050, PMID:15043509, PMID:15051636, PMID:15090700, PMID:15120823, PMID:15159330, PMID:15176425, PMID:15213294, PMID:15242738, PMID:15280442, PMID:15364333, PMID:15466642, PMID:15475579, PMID:15500450, PMID:15522280, PMID:15572050, PMID:15572053, PMID:15599693, PMID:15670565, PMID:15699249, PMID:15746444, PMID:15760896, PMID:15828882, PMID:15840476, PMID:15851119, PMID:15851171, PMID:15851228, PMID:15851652, PMID:15913580, PMID:16029385, PMID:16043162, PMID:16116052, PMID:16132053, PMID:16155735, PMID:16244680, PMID:16253912, PMID:16253915, PMID:16265869, PMID:16361248, PMID:16379539, PMID:16414944, PMID:16432067, PMID:16470702, PMID:16487223, PMID:16720674, PMID:16754261, PMID:16818214, PMID:16831322, PMID:16842670, PMID:16922724, PMID:16923798, PMID:16926178, PMID:16937190, PMID:17060380, PMID:17088455, PMID:17160940, PMID:17161064, PMID:17171344, PMID:17210839, PMID:17222736, PMID:17224687, PMID:17275752, PMID:17438606, PMID:17438609, PMID:17445409, PMID:17467628, PMID:17531263, PMID:17560885, PMID:17569659, PMID:17576861, PMID:17597962, PMID:17823114, PMID:17876385, PMID:17905336, PMID:17908752, PMID:18004376, PMID:18060054, PMID:18218237, PMID:18222468, PMID:18222980, PMID:18329740, PMID:18348270, PMID:18386051, PMID:18426444, PMID:18441445, PMID:18464931, PMID:18468596, PMID:18508782, PMID:18551196, PMID:18593567, PMID:18596570, PMID:18675227, PMID:18752142, PMID:18776039, PMID:18808722, PMID:18835466, PMID:18848812, PMID:18955593, PMID:19019189, PMID:19038855, PMID:19057127, PMID:19065538, PMID:19070294, PMID:19100075, PMID:19136169, PMID:19160088, PMID:19165230, PMID:19184172, PMID:19215240, PMID:19305409, PMID:19306396, PMID:19322600, PMID:19324319, PMID:19352046, PMID:19371231, PMID:19419905, PMID:19443486, PMID:19490267, PMID:19490382, PMID:19583963, PMID:19668779, PMID:19673885, PMID:19695459, PMID:19716085, PMID:19731233, PMID:19804510, PMID:19841298, PMID:19841300, PMID:19843919, PMID:19862833, PMID:19926013, PMID:19996378, PMID:20167303, PMID:20181576, PMID:20197117, PMID:20211602, PMID:20348026, PMID:20486126, PMID:20513597, PMID:20541041, PMID:20659946, PMID:20674198, PMID:20833965, PMID:20850565, PMID:20851114, PMID:20876384, PMID:20931094, PMID:20960616, PMID:20960620, PMID:20975234, PMID:21063070, PMID:21109023, PMID:21130771, PMID:21185501, PMID:21215473, PMID:21216356, PMID:21240260, PMID:21244686, PMID:21295269, PMID:21308345, PMID:21350584, PMID:21367833, PMID:21376840, PMID:21410720, PMID:21419236, PMID:21440677, PMID:21483829, PMID:21490315, PMID:21496174, PMID:21499742, PMID:21536673, PMID:21573751, PMID:21650221, PMID:21661061, PMID:21703926, PMID:21737021, PMID:21769575, PMID:21779290, PMID:21806934, PMID:21956039, PMID:21960720, PMID:22052944, PMID:22067087, PMID:22173492, PMID:22245016, PMID:22359612, PMID:22373669, PMID:22378279, PMID:22396785, PMID:22402074, PMID:22402334, PMID:22429796, PMID:22515331, PMID:22573844, PMID:22580281, PMID:22581653, PMID:22617876, PMID:22653970, PMID:22677073, PMID:22727609, PMID:22821100, PMID:22876326, PMID:22882672, PMID:22949429, PMID:22995991, PMID:23022675, PMID:23098067, PMID:23103450, PMID:23139254, PMID:23158531, PMID:23174487, PMID:23207121, PMID:23303164, PMID:23304551, PMID:23316740, PMID:23338923, PMID:23347029, PMID:23465283, PMID:23470493, PMID:23546015, PMID:23555008, PMID:23631430, PMID:23721480, PMID:23861362, PMID:23935525, PMID:23936059, PMID:24021552, PMID:24033266, PMID:24055113, PMID:24057343, PMID:24217263, PMID:24223155, PMID:24334129, PMID:24363352, PMID:24388587, PMID:24400717, PMID:24530480, PMID:24596401, PMID:24606995, PMID:24623279, PMID:24631775, PMID:24667783, PMID:24973560, PMID:25008322, PMID:25028483, PMID:25107562, PMID:25119684, PMID:25158096, PMID:25254353, PMID:25294783, PMID:25348405, PMID:25351510, PMID:25417810, PMID:25447171, PMID:25576780, PMID:25606385, PMID:25626866, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25809256, PMID:25819988, PMID:25914329, PMID:25923442, PMID:25929701, PMID:25967940, PMID:25974115, PMID:25987402, PMID:26063740, PMID:26066609, PMID:26129877, PMID:26132555, PMID:26159999, PMID:26164358, PMID:26187847, PMID:26189708, PMID:26213684, PMID:26330336, PMID:26332594, PMID:26403377, PMID:26467025, PMID:26496715, PMID:26669661, PMID:26675252, PMID:26688388, PMID:26704558, PMID:26715165, PMID:26743238, PMID:26746457, PMID:26846766, PMID:26847485, PMID:26937405, PMID:26958806, PMID:26986070, PMID:27000522, PMID:27026747, PMID:27041096, PMID:27041150, PMID:27153395, PMID:27251404, PMID:27379800, PMID:27650965, PMID:27761161, PMID:27761169, PMID:27803431, PMID:27816319, PMID:27920829, PMID:27930701, PMID:28003625, PMID:28049825, PMID:28082916, PMID:28087566, PMID:28255936, PMID:28302345, PMID:28349240, PMID:28360401, PMID:28431243, PMID:28449774, PMID:28472724, PMID:28492532, PMID:28532774, PMID:28606196, PMID:28704380, PMID:28749435, PMID:28768059, PMID:28794082, PMID:28855170, PMID:28861002, PMID:28988457, PMID:29117522, PMID:29247119, PMID:29431731, PMID:29497013, PMID:29622001, PMID:29661707, PMID:29672598, PMID:29725305, PMID:29752375, PMID:29759541, PMID:29766885, PMID:29881912, PMID:29884292, PMID:30041777, PMID:30086531, PMID:30246897, PMID:30311386, PMID:30758498, PMID:30988392, PMID:30996762, PMID:31539150, PMID:32238909, PMID:231588531, PMID:15840476 RGD:1580502 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP 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, PMID:12148092, PMID:12163457, PMID:12689820, PMID:12796536, PMID:12909315, PMID:14522976, PMID:15028050, PMID:15276028, PMID:15757667, PMID:15831539, PMID:15851159, PMID:15852530, PMID:15911703, PMID:16217063, PMID:16419128, PMID:16541386, PMID:16571646, PMID:16818210, PMID:16834334, PMID:17074642, PMID:17074643, PMID:17119796, PMID:17210839, PMID:17211524, PMID:17221872, PMID:17324964, PMID:17341397, PMID:17399642, PMID:17399643, PMID:17568571, PMID:17582433, PMID:17655675, PMID:18452873, PMID:18554214, PMID:18690034, PMID:19931173, PMID:20111058, PMID:20382953, PMID:20647529, PMID:20713726, PMID:21148745, PMID:21640645, PMID:21875779, PMID:22002906, PMID:22286118, PMID:22581653, PMID:22589293, PMID:22806368, PMID:22944906, PMID:23516313, PMID:23595086, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24025405, PMID:24211314, PMID:24561538, PMID:24721648, PMID:24861851, PMID:25284084, PMID:25415519, PMID:25637381, PMID:25741868, PMID:26467025, PMID:26937109, PMID:28003625, PMID:28024840, PMID:28492532, PMID:28501311, PMID:30516834 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17967416, PMID:20560207, PMID:22203740, PMID:22308486, PMID:24420545, PMID:24574546, PMID:24819081, PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 severity IAGP
ISO
EXP
ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
DNA:deletion:exon (rat)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human)
ClinVar
CTD
PMID:1467812, PMID:2294929, PMID:2313012, PMID:8487283, PMID:8528244, PMID:8818942, PMID:8872472, PMID:9024139, PMID:9164812, PMID:9272155, PMID:9302275, PMID:9312006, PMID:9323054, PMID:9328483, PMID:9386136, PMID:9482580, PMID:9570196, PMID:9600240, PMID:9641694, PMID:9654228, PMID:9693036, PMID:9781056, PMID:9799083, PMID:9927399, PMID:10024302, PMID:10077519, PMID:10086971, PMID:10090529, PMID:10090886, PMID:10220144, PMID:10220146, PMID:10367071, PMID:10376919, PMID:10409658, PMID:10477533, PMID:10482963, PMID:10483966, PMID:10560595, PMID:10704188, PMID:10728423, PMID:10737999, PMID:10807545, PMID:10868744, PMID:10874277, PMID:10973849, PMID:11021476, PMID:11087258, PMID:11140949, PMID:11162126, PMID:11216980, PMID:11278406, PMID:11351021, PMID:11530100, PMID:11668638, PMID:11684219, PMID:11761407, PMID:11799244, PMID:11802537, PMID:11997281, PMID:12051962, PMID:12205113, PMID:12205790, PMID:12388934, PMID:12402336, PMID:12442276, PMID:12477631, PMID:12522251, PMID:12566525, PMID:12653681, PMID:12690509, PMID:12702160, PMID:12710526, PMID:12736279, PMID:12808265, PMID:12820704, PMID:12877697, PMID:14510655, PMID:14510661, PMID:14527360, PMID:14531214, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14756674, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15140888, PMID:15159330, PMID:15176425, PMID:15192825, PMID:15214551, PMID:15234419, PMID:15242738, PMID:15466642, PMID:15469540, PMID:15500450, PMID:15511625, PMID:15528464, PMID:15547041, PMID:15649981, PMID:15746441, PMID:15781747, PMID:15840476, PMID:15851171, PMID:15913580, PMID:15924777, PMID:15935335, PMID:16012827, PMID:16038262, PMID:16109388, PMID:16155735, PMID:16246960, PMID:16253915, PMID:16414944, PMID:16487223, PMID:16556865, PMID:16556866, PMID:16564513, PMID:16623272, PMID:16627448, PMID:16818214, PMID:16831322, PMID:16922724, PMID:16937190, PMID:16981927, PMID:16987820, PMID:17016049, PMID:17053194, PMID:17088455, PMID:17091796, PMID:17161064, PMID:17192539, PMID:17210839, PMID:17222736, PMID:17224687, PMID:17227916, PMID:17329207, PMID:17329209, PMID:17438609, PMID:17467628, PMID:17470695, PMID:17482572, PMID:17597962, PMID:17905336, PMID:17984373, PMID:17999538, PMID:18004376, PMID:18165683, PMID:18174212, PMID:18222468, PMID:18239739, PMID:18308161, PMID:18329740, PMID:18400097, PMID:18426444, PMID:18452873, PMID:18464931, PMID:18580685, PMID:18599533, PMID:18611041, PMID:18713323, PMID:18752142, PMID:18774102, PMID:18808722, PMID:19041715, PMID:19114714, PMID:19160088, PMID:19165230, PMID:19167356, PMID:19198868, PMID:19261104, PMID:19348785, PMID:19490272, PMID:19540844, PMID:19590188, PMID:19632626, PMID:19646991, PMID:19716085, PMID:19808498, PMID:19815527, PMID:19825999, PMID:19841298, PMID:19841300, PMID:19843919, PMID:19862833, PMID:19913547, PMID:19934648, PMID:19959132, PMID:20031635, PMID:20044973, PMID:20138589, PMID:20167303, PMID:20186784, PMID:20196769, PMID:20226272, PMID:20348026, PMID:20368164, PMID:20421371, PMID:20436212, PMID:20486126, PMID:20487114, PMID:20513597, PMID:20541041, PMID:20659946, PMID:20660394, PMID:20662986, PMID:20833965, PMID:20850564, PMID:20851114, PMID:20920651, PMID:20960614, PMID:20975234, PMID:20981092, PMID:21059661, PMID:21063070, PMID:21118729, PMID:21129503, PMID:21131640, PMID:21164565, PMID:21185501, PMID:21215473, PMID:21241800, PMID:21241880, PMID:21350584, PMID:21380488, PMID:21451124, PMID:21459285, PMID:21482651, PMID:21511995, PMID:21576493, PMID:21778721, PMID:21779290, PMID:21810471, PMID:21854832, PMID:21895724, PMID:21952006, PMID:21956039, PMID:22095730, PMID:22199116, PMID:22250012, PMID:22309168, PMID:22373669, PMID:22378279, PMID:22382802, PMID:22429796, PMID:22456477, PMID:22509038, PMID:22539601, PMID:22581653, PMID:22613981, PMID:22629021, PMID:22677073, PMID:22708720, PMID:22727609, PMID:22771213, PMID:22818067, PMID:22882672, PMID:22910039, PMID:22947121, PMID:22949429, PMID:22956155, PMID:23000022, PMID:23075154, PMID:23092362, PMID:23098067, PMID:23124029, PMID:23130128, PMID:23158531, PMID:23174487, PMID:23251633, PMID:23271449, PMID:23304551, PMID:23350853, PMID:23375927, PMID:23392653, PMID:23396983, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23728945, PMID:23844633, PMID:23851063, PMID:23861362, PMID:23861489, PMID:23890619, PMID:23995044, PMID:24006450, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24070608, PMID:24096004, PMID:24144883, PMID:24184248, PMID:24190995, PMID:24217263, PMID:24218437, PMID:24223155, PMID:24269949, PMID:24284363, PMID:24291113, PMID:24314077, PMID:24357532, PMID:24363352, PMID:24372464, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24631775, PMID:24666684, PMID:24667783, PMID:24681627, PMID:24687331, PMID:24705789, PMID:24762593, PMID:24818999, PMID:24861447, PMID:24912595, PMID:24920132, PMID:24947509, PMID:25028166, PMID:25037568, PMID:25087618, PMID:25119684, PMID:25187895, PMID:25192979, PMID:25236808, PMID:25294783, PMID:25344363, PMID:25348405, PMID:25351510, PMID:25444851, PMID:25447171, PMID:25453094, PMID:25525159, PMID:25559286, PMID:25564553, PMID:25608792, PMID:25634836, PMID:25637381, PMID:25645639, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25786344, PMID:25825456, PMID:25845942, PMID:25854863, PMID:25889101, PMID:25935074, PMID:25974115, PMID:25985138, PMID:25991456, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26132555, PMID:26159999, PMID:26187847, PMID:26228265, PMID:26318259, PMID:26332594, PMID:26344792, PMID:26346102, PMID:26383259, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26546361, PMID:26669661, PMID:26675252, PMID:26704558, PMID:26715165, PMID:26734131, PMID:26813553, PMID:27000522, PMID:27026747, PMID:27041096, PMID:27041150, PMID:27159321, PMID:27231019, PMID:27251404, PMID:27311732, PMID:27332903, PMID:27451284, PMID:27470144, PMID:27485560, PMID:27650965, PMID:27761162, PMID:27816319, PMID:27831900, PMID:27884173, PMID:27917693, PMID:27920829, PMID:27921062, PMID:28012188, PMID:28212739, PMID:28249770, PMID:28264985, PMID:28438721, PMID:28449774, PMID:28491751, PMID:28492532, PMID:28518168, PMID:28532774, PMID:28588847, PMID:28600177, PMID:28606196, PMID:28619993, PMID:28704380, PMID:28720088, PMID:28739325, PMID:28749187, PMID:28794082, PMID:28944242, PMID:28988457, PMID:29021305, PMID:29033053, PMID:29167462, PMID:29194874, PMID:29197658, PMID:29247119, PMID:29330128, PMID:29379719, PMID:29439887, PMID:29451064, PMID:29532034, PMID:29654130, PMID:29677589, PMID:29740400, PMID:29857160, PMID:29876285, PMID:29952348, PMID:30302399, PMID:30311386, PMID:30571187, PMID:30591322, PMID:30615648, PMID:31009818, PMID:31696929, PMID:32238909, PMID:15840476, PMID:16368876, PMID:22199116 RGD:1580502, RGD:1581602, RGD:7247613 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:9799083, PMID:10024302, PMID:10807545, PMID:11761407, PMID:12808265, PMID:14661677, PMID:15028050, PMID:15234419, PMID:15500450, PMID:15840476, PMID:15913580, PMID:16038262, PMID:16487223, PMID:16922724, PMID:16981927, PMID:17016049, PMID:17470695, PMID:17905336, PMID:18426444, PMID:19716085, PMID:19825999, PMID:19841300, PMID:19862833, PMID:20541041, PMID:20981092, PMID:22378279, PMID:22581653, PMID:22727609, PMID:22949429, PMID:23098067, PMID:23158531, PMID:23465283, PMID:23631430, PMID:23861362, PMID:23890619, PMID:24033266, PMID:24055113, PMID:24284363, PMID:24388587, PMID:24762593, PMID:25187895, PMID:25447171, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26385840, PMID:26467025, PMID:26704558, PMID:27917693, PMID:28492532, PMID:28704380 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9323054, PMID:12402336, PMID:17905336, PMID:18752142, PMID:19716085, PMID:19841300, PMID:19862833, PMID:20920651, PMID:22581653, PMID:23631430, PMID:24033266, PMID:25348405, PMID:25525159, PMID:25741868, PMID:25889101, PMID:26318259, PMID:28492532 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G KIF11 kinesin family member 11 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,593,130...92,655,395
JBrowse link
G KIF21B kinesin family member 21B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:200,969,390...201,023,714
Ensembl chr 1:200,969,390...201,023,700
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:112,107,931...112,254,722
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:10973849, PMID:11076825, PMID:11710892, PMID:11901046, PMID:12898257, PMID:14961552, PMID:15047701, PMID:15579534, PMID:15840476, PMID:15851227, PMID:16453024, PMID:17605181, PMID:18180363, PMID:18378609, PMID:18436145, PMID:19026623, PMID:19272188, PMID:19716085, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20541041, PMID:22581653, PMID:23293604, PMID:23321620, PMID:24033266, PMID:24055113, PMID:24631775, PMID:25637381, PMID:25741868, PMID:25904541, PMID:26332594, PMID:26467025, PMID:27077130, PMID:28391114, PMID:28492532 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121275 VISTA enhancer hs2192 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:150,962,898...150,966,344 JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,245,795...92,246,089 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:7,888,510...7,902,016
Ensembl chr19:7,888,505...7,902,021
JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,546,823...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MDN1 midasin AAA ATPase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:89,642,498...89,828,021
Ensembl chr 6:89,642,498...89,819,794
JBrowse link
G MIR1285-1 microRNA 1285-1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
JBrowse link
G MIR499A microRNA 499a IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,990,376...34,990,497
Ensembl chr20:34,990,376...34,990,497
JBrowse link
G MIR671 microRNA 671 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,238,421...151,238,538
Ensembl chr 7:151,238,421...151,238,538
JBrowse link
G MKI67 marker of proliferation Ki-67 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,649,465...9,702,393
Ensembl chr 3:9,649,433...9,702,393
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
ClinVar PMID:16335287, PMID:16715312, PMID:18533079, PMID:18957093, PMID:19574547, PMID:19996403, PMID:20215591, PMID:20458009, PMID:20624503, PMID:20800588, PMID:21310275, PMID:22429680, PMID:22763267, PMID:22857948, PMID:22958901, PMID:23140321, PMID:23396983, PMID:23861362, PMID:24033266, PMID:24111713, PMID:24503780, PMID:24510615, PMID:24721642, PMID:25163546, PMID:25342278, PMID:25524337, PMID:25741868, PMID:26467025, PMID:27153395, PMID:27532257, PMID:28492532, PMID:28679633, PMID:28771489 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:109,292,365...109,309,394
Ensembl chr 1:109,292,365...109,307,011
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437
Ensembl chr20:34,955,810...35,002,437
JBrowse link
G MYLK4 myosin light chain kinase family member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:2,663,629...2,770,376
Ensembl chr 6:2,663,629...2,750,922
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017
JBrowse link
G NCOA6 nuclear receptor coactivator 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,714,774...34,825,651
Ensembl chr20:34,689,097...34,825,651
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
Ensembl chr10:20,779,973...21,293,011
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,657,087...33,674,428
Ensembl chr20:33,657,087...33,674,463
JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 NCBI chr 1:77,888,528...77,948,643
Ensembl chr 1:77,888,513...77,943,895
JBrowse link
G NLRP13 NLR family pyrin domain containing 13 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:55,891,692...55,932,336
Ensembl chr19:55,891,699...55,932,336
JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:14,961,235...15,065,903
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:28492532 NCBI chr10:18,512,582...18,659,264
Ensembl chr10:18,545,561...18,659,285
JBrowse link
G NUB1 negative regulator of ubiquitin like proteins 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,341,699...151,378,449
Ensembl chr 7:151,341,699...151,378,449
JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:8,750,381...8,769,613
Ensembl chr 3:8,750,408...8,769,628
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:20,707,691...20,858,812
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,560,542...34,677,103
Ensembl chr20:34,560,542...34,698,790
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,068,763...9,481,242
JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:617,221...633,557
Ensembl chr19:617,221...633,537
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19931775 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532, PMID:30311386 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:24033266, PMID:25606385, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:151,556,124...151,877,115
Ensembl chr 7:151,556,124...151,877,125
JBrowse link
G PROCR protein C receptor IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,172,072...35,215,989
Ensembl chr20:35,172,072...35,216,240
JBrowse link
G PROKR1 prokineticin receptor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:68,643,579...68,658,251
Ensembl chr 2:68,643,589...68,658,247
Ensembl chr 2:68,643,589...68,658,247
JBrowse link
G PRSS12 serine protease 12 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:118,280,038...118,353,042
Ensembl chr 4:118,280,038...118,353,003
JBrowse link
G PRSS57 serine protease 57 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:685,546...695,452
Ensembl chr19:685,546...695,498
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:21097842 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:49,848,554...49,860,744
Ensembl chr19:49,850,735...49,860,744
JBrowse link
G PTOV1-AS2 PTOV1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:49,856,465...49,859,289
Ensembl chr19:49,856,970...49,859,289
JBrowse link
G PXMP4 peroxisomal membrane protein 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,702,758...33,720,310
Ensembl chr20:33,702,758...33,720,319
JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,969,249
Ensembl chr 3:8,775,402...8,963,773
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
JBrowse link
G RALY RALY heterogeneous nuclear ribonucleoprotein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,993,659...34,084,884
Ensembl chr20:33,993,646...34,108,308
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663, PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chr10:110,641,933...110,839,471
Ensembl chr10:110,644,336...110,839,468
JBrowse link
G REM1 RRAD and GEM like GTPase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:31,475,273...31,484,895
Ensembl chr20:31,475,288...31,484,895
JBrowse link
G REPIN1 replication initiator 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,368,096...150,374,043
Ensembl chr 7:150,368,189...150,374,044
JBrowse link
G RHEB Ras homolog, mTORC1 binding IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,466,012...151,519,895
Ensembl chr 7:151,466,012...151,520,120
JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:71,886,703...72,403,145
Ensembl chr 6:71,886,703...72,403,143
JBrowse link
G RNF207 ring finger protein 207 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 1:6,206,004...6,221,299
Ensembl chr 1:6,205,475...6,221,299
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long Q-T syndrome
ClinVar PMID:11159936, PMID:15364606, PMID:15364613, PMID:16239587, PMID:19926015, PMID:21616285, PMID:22221940, PMID:22373669, PMID:22374134, PMID:22787013, PMID:22828895, PMID:23595086, PMID:23871484, PMID:24033266, PMID:25440180, PMID:25554238, PMID:25741868, PMID:26114861, PMID:26132555, PMID:26153920, PMID:26704558, PMID:26743238, PMID:27452199, PMID:28422759, PMID:28449774, PMID:28492532, PMID:30311386 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:30311386 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291, PMID:19522081, PMID:23861362, PMID:24529773, PMID:25668026, PMID:25741868, PMID:26042039, PMID:26467025, PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:23861362, PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP
EXP
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, drug-associated
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired long QT syndrome
ClinVar
CTD
PMID:7889574, PMID:8541846, PMID:8620612, PMID:8917568, PMID:9495298, PMID:9506831, PMID:9686753, PMID:10377081, PMID:10508990, PMID:10618304, PMID:10627139, PMID:10711933, PMID:10727653, PMID:10758053, PMID:10772658, PMID:10807545, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11076825, PMID:11123251, PMID:11150514, PMID:11274952, PMID:11304498, PMID:11410597, PMID:11463728, PMID:11535573, PMID:11710892, PMID:11823453, PMID:11901046, PMID:11997281, PMID:12123767, PMID:12208804, PMID:12209021, PMID:12354768, PMID:12566525, PMID:12574143, PMID:12574983, PMID:12650879, PMID:12650885, PMID:12673799, PMID:12695286, PMID:12796143, PMID:12820704, PMID:12877697, PMID:12898257, PMID:14510655, PMID:14676229, PMID:14736542, PMID:14753626, PMID:14760488, PMID:14961552, PMID:14967853, PMID:14990510, PMID:14998624, PMID:15047701, PMID:15051636, PMID:15120823, PMID:15136511, PMID:15176425, PMID:15184283, PMID:15466642, PMID:15485686, PMID:15579534, PMID:15621041, PMID:15671429, PMID:15840476, PMID:15851227, PMID:15992732, PMID:15996170, PMID:15998675, PMID:16039271, PMID:16188595, PMID:16244680, PMID:16254012, PMID:16267253, PMID:16301357, PMID:16344400, PMID:16379539, PMID:16414944, PMID:16453024, PMID:16521247, PMID:16540748, PMID:16611632, PMID:16712702, PMID:16922724, PMID:17075016, PMID:17088455, PMID:17110414, PMID:17161064, PMID:17210839, PMID:17210841, PMID:17438607, PMID:17504259, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17698727, PMID:17905336, PMID:17908752, PMID:18060054, PMID:18071069, PMID:18180363, PMID:18378609, PMID:18426444, PMID:18436145, PMID:18451998, PMID:18452873, PMID:18456723, PMID:18508782, PMID:18708744, PMID:18752142, PMID:18752973, PMID:18848812, PMID:18929331, PMID:18984535, PMID:19026623, PMID:19027780, PMID:19140927, PMID:19167345, PMID:19167409, PMID:19251209, PMID:19272188, PMID:19302788, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19606473, PMID:19666841, PMID:19716085, PMID:19762097, PMID:19799913, PMID:19808432, PMID:19841300, PMID:19843919, PMID:19843921, PMID:19862833, PMID:19996378, PMID:20031634, PMID:20090423, PMID:20102864, PMID:20102920, PMID:20110800, PMID:20129283, PMID:20137763, PMID:20339117, PMID:20384651, PMID:20403459, PMID:20458009, PMID:20486126, PMID:20513597, PMID:20539757, PMID:20541041, PMID:20636320, PMID:20812931, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21076026, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21167176, PMID:21185501, PMID:21193062, PMID:21216356, PMID:21273195, PMID:21306642, PMID:21321465, PMID:21350584, PMID:21483645, PMID:21596231, PMID:21622575, PMID:21908450, PMID:22277643, PMID:22331908, PMID:22337857, PMID:22360817, PMID:22370996, PMID:22373669, PMID:22378279, PMID:22402334, PMID:22426227, PMID:22490985, PMID:22581653, PMID:22677073, PMID:22685113, PMID:22705208, PMID:22710484, PMID:22721569, PMID:22766342, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:22999724, PMID:23008441, PMID:23098067, PMID:23158531, PMID:23174487, PMID:23293604, PMID:23321620, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23503384, PMID:23571586, PMID:23631430, PMID:23692053, PMID:23805106, PMID:23838598, PMID:23861362, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24136861, PMID:24144883, PMID:24317018, PMID:24349418, PMID:24573164, PMID:24596401, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24709866, PMID:24721456, PMID:24736382, PMID:24762805, PMID:24784157, PMID:24815523, PMID:24871449, PMID:24892747, PMID:25051102, PMID:25119684, PMID:25210054, PMID:25210526, PMID:25326637, PMID:25348405, PMID:25351510, PMID:25370050, PMID:25410959, PMID:25624448, PMID:25637381, PMID:25650408, PMID:25741286, PMID:25741868, PMID:25757662, PMID:25904541, PMID:26022185, PMID:26132555, PMID:26159999, PMID:26164358, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26332594, PMID:26423924, PMID:26467025, PMID:26467377, PMID:26538325, PMID:26633542, PMID:26669661, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26822237, PMID:26888838, PMID:26916278, PMID:27041150, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27381756, PMID:27435932, PMID:27566755, PMID:27711072, PMID:27930701, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28087622, PMID:28150151, PMID:28265756, PMID:28341588, PMID:28341781, PMID:28391114, PMID:28412158, PMID:28416588, PMID:28492532, PMID:28549997, PMID:28567303, PMID:28573431, PMID:28600387, PMID:28734073, PMID:28779003, PMID:28781330, PMID:28781849, PMID:28794082, PMID:28798025, PMID:28807990, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29331327, PMID:29540853, PMID:29728395, PMID:29764897, PMID:29791480, PMID:29874177, PMID:29884292, PMID:29915097, PMID:30059973, PMID:30079003, PMID:30153324, PMID:30758498, PMID:31262209, PMID:15840476 RGD:1580502 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SDC1 syndecan 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,298
JBrowse link
G SIDT1 SID1 transmembrane family member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:113,532,296...113,629,579
Ensembl chr 3:113,532,555...113,629,575
Ensembl chr 3:113,532,555...113,629,575
JBrowse link
G SIRT6 sirtuin 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
JBrowse link
G SLC2A5 solute carrier family 2 member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:9,035,106...9,072,259
Ensembl chr 1:9,035,106...9,088,478
JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
JBrowse link
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,238,780...151,277,452
Ensembl chr 7:151,238,764...151,277,896
JBrowse link
G SMIM11A small integral membrane protein 11A IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:136,375,569...136,400,220
Ensembl chr 9:136,375,577...136,400,168
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780
JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:127,652,145...128,092,593
Ensembl chr 7:127,652,194...128,092,609
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP DNA:missense mutation:275A>G (human)
ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:19684871, PMID:20009079, PMID:22584458, PMID:23465283, PMID:23631430, PMID:23834499, PMID:23861362, PMID:24014171, PMID:24319568, PMID:24981977, PMID:25650408, PMID:25741868, PMID:25956966, PMID:26132555, PMID:26159999, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28837624, PMID:30311386, PMID:30615648, PMID:30975432, PMID:19684871 RGD:6771370 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,446
Ensembl chr 3:8,980,591...9,363,053
JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:10227634, PMID:10746614, PMID:11353417, PMID:11431690, PMID:11756609, PMID:11805270, PMID:12082049, PMID:12269726, PMID:12807393, PMID:12839838, PMID:12939441, PMID:14633633, PMID:14672715, PMID:15314133, PMID:15318349, PMID:15564037, PMID:15580566, PMID:16723230, PMID:16730439, PMID:17537631, PMID:17556197, PMID:17897828, PMID:18583131, PMID:18930476, PMID:19380584, PMID:20472890, PMID:21294223, PMID:21404291, PMID:21610159, PMID:24033266, PMID:25351510, PMID:25741868, PMID:26132555, PMID:26159999, PMID:26185955, PMID:26467025, PMID:27061274, PMID:27066573, PMID:27312022, PMID:27854218, PMID:28492532, PMID:28981925, PMID:30055862 NCBI chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
JBrowse link
G STK32B serine/threonine kinase 32B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:5,051,480...5,500,994
Ensembl chr 4:5,051,480...5,500,994
JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539
JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TCTN3 tectonic family member 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:95,663,401...95,693,954
Ensembl chr10:95,663,396...95,694,143
JBrowse link
G TDRD6 tudor domain containing 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:46,680,268...46,704,319
Ensembl chr 6:46,687,875...46,704,319
JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:27861123, PMID:30790670 NCBI chr 4:64,276,298...64,409,510
Ensembl chr 4:64,275,257...64,409,468
JBrowse link
G TGFBRAP1 transforming growth factor beta receptor associated protein 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:105,249,404...105,329,735
Ensembl chr 2:105,264,391...105,329,735
JBrowse link
G THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,362,862...9,386,791
Ensembl chr 3:9,362,971...9,386,791
JBrowse link
G TLNRD1 talin rod domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:81,000,923...81,005,788
Ensembl chr15:81,000,923...81,005,788
JBrowse link
G TMEM176A transmembrane protein 176A IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,800,543...150,805,119
Ensembl chr 7:150,800,403...150,805,118
JBrowse link
G TMEM176B transmembrane protein 176B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,791,287...150,801,360
Ensembl chr 7:150,791,285...150,801,360
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:14,125,006...14,143,680
Ensembl chr 3:14,124,940...14,143,679
Ensembl chr 3:14,124,940...14,143,679
JBrowse link
G TMUB1 transmembrane and ubiquitin like domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,081,085...151,083,493
Ensembl chr 7:151,081,085...151,083,493
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
JBrowse link
G TOP2A DNA topoisomerase II alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:40,388,525...40,417,902
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP53INP2 tumor protein p53 inducible nuclear protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,704,344...34,713,439
Ensembl chr20:34,704,339...34,713,439
JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868 NCBI chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TPM1-AS TPM1 antisense RNA IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868 NCBI chr15:63,046,034...63,049,387
Ensembl chr15:63,046,034...63,049,387
JBrowse link
G TRHDE thyrotropin releasing hormone degrading enzyme IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:72,087,288...72,670,758
Ensembl chr12:72,087,266...72,670,758
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,002,404...35,092,835
Ensembl chr20:35,002,404...35,092,807
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr19:49,157,792...49,211,841
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:23861362, PMID:24033266, PMID:25145518, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25145518, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:19,074,508...19,214,332
Ensembl chr 1:19,074,510...19,210,266
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
JBrowse link
G UPP1 uridine phosphorylase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:48,088,308...48,108,736
Ensembl chr 7:48,088,628...48,108,736
JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:49,108,050...49,120,933
Ensembl chr 3:49,108,046...49,120,938
JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
G VSX1 visual system homeobox 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:25,069,940...25,082,141
Ensembl chr20:25,070,885...25,082,141
Ensembl chr20:25,070,885...25,082,141
JBrowse link
G WDR25 WD repeat domain 25 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:100,376,416...100,530,303
Ensembl chr14:100,376,418...100,530,303
JBrowse link
G WDR26 WD repeat domain 26 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,143...224,437,033
JBrowse link
G WDR86 WD repeat domain 86 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:151,377,974...151,410,712
Ensembl chr 7:151,375,909...151,410,727
JBrowse link
G WWC2 WW and C2 domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:183,098,640...183,320,777
Ensembl chr 4:183,099,257...183,320,777
JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:27,110,111...27,155,051
Ensembl chr10:27,110,111...27,155,266
Ensembl chr10:27,110,111...27,155,266
JBrowse link
G ZNF174 zinc finger protein 174 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:3,401,215...3,409,364
Ensembl chr16:3,401,215...3,409,364
JBrowse link
G ZNF341 zinc finger protein 341 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555, PMID:28492532 NCBI chr20:33,731,657...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
G ZNF341-AS1 ZNF341 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:33,787,373...33,811,099
Ensembl chr20:33,787,373...33,811,109
JBrowse link
G ZNF775 zinc finger protein 775 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 7:150,379,330...150,398,630
Ensembl chr 7:150,368,790...150,398,630
JBrowse link
G ZNF862 zinc finger protein 862 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479
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 IAGP
EXP
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11371347, PMID:11841151, PMID:11861044, PMID:12086641, PMID:12148092, PMID:12163457, PMID:12689820, PMID:12796536, PMID:12909315, PMID:14522976, PMID:15757667, PMID:15831539, PMID:15851159, PMID:15852530, PMID:15911703, PMID:15922306, PMID:16217063, PMID:16419128, PMID:16533896, PMID:16541386, PMID:16571646, PMID:16818210, PMID:16834334, PMID:17074642, PMID:17074643, PMID:17119796, PMID:17211524, PMID:17221872, PMID:17324964, PMID:17341397, PMID:17399642, PMID:17399643, PMID:17568571, PMID:17582433, PMID:17655675, PMID:18313615, PMID:18452873, PMID:18554214, PMID:19041665, PMID:19111761, PMID:19201608, PMID:19570891, PMID:19931173, PMID:20382953, PMID:20647529, PMID:20713726, PMID:21493816, PMID:22002906, PMID:22186697, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23595086, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24025405, PMID:24033266, PMID:24047492, PMID:24211314, PMID:24383070, PMID:24561538, PMID:24721648, PMID:24861851, PMID:25284084, PMID:25410959, PMID:25415519, PMID:25741868, PMID:25847018, PMID:26230511, PMID:26322597, PMID:26467025, PMID:26937109, PMID:27145478, PMID:27920829, PMID:28003625, PMID:28024840, PMID:28341588, PMID:28492532, PMID:28501311, PMID:29017447, PMID:29874177, PMID:30311386, PMID:30516834 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Andersen Syndrome
ClinVar Annotator: match by term: Andersen Tawil syndrome
ClinVar PMID:20560207, PMID:21311022, PMID:22203740, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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 IAGP ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
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 IAGP ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 ClinVar
OMIM
PMID:7828904, PMID:8899564, PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10807545, PMID:10973849, PMID:11320260, PMID:11692163, PMID:11874988, PMID:12402336, PMID:12566567, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:15840476, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16818210, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17597962, PMID:18426444, PMID:18752142, PMID:19008479, PMID:19214780, PMID:19305408, PMID:19340287, PMID:19521339, PMID:19695459, PMID:19716085, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22166941, PMID:22378279, PMID:22581653, PMID:23098067, PMID:23124029, PMID:23174487, PMID:23510998, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:24561134, PMID:24606995, PMID:24710009, PMID:25637381, PMID:25737393, PMID:25741868, PMID:25998140, PMID:26132555, PMID:26159999, PMID:26187847, PMID:26220970, PMID:26743238, PMID:26899768, PMID:28003625, PMID:28176637, PMID:28472724, PMID:28492532, PMID:28988457, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
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 IAGP
EXP
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction:G477+1A(human)
ClinVar
CTD
PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:10400998, PMID:10428953, PMID:10973849, PMID:11320260, PMID:11874988, PMID:12566567, PMID:15840476, PMID:16818210, PMID:19008479, PMID:19340287, PMID:19521339, PMID:19716085, PMID:22166941, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:24033266, PMID:24400172, PMID:24561134, PMID:24606995, PMID:25637381, PMID:25741868, PMID:26187847, PMID:28176637, PMID:28492532, PMID:9445165, PMID:16987820 RGD:1580499, RGD:12910698 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP 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: Surdo-cardiac syndrome
ClinVar Annotator: match by term: KCNQ1-related Jervell and Lange-Nielsen syndrome
ClinVar
OMIM
PMID:2294929, PMID:9164812, PMID:9312006, PMID:9328483, PMID:9386136, PMID:9641694, PMID:9781056, PMID:9799083, PMID:9927399, PMID:10024302, PMID:10077519, PMID:10483966, PMID:10560595, PMID:10704188, PMID:10737999, PMID:10807545, PMID:10973849, PMID:11087258, PMID:11140949, PMID:11162126, PMID:11216980, PMID:11530100, PMID:11668641, PMID:11761407, PMID:11799244, PMID:11997281, PMID:12175777, PMID:12402336, PMID:12477631, PMID:12566525, PMID:12690509, PMID:12702160, PMID:12736279, PMID:14510661, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15140888, PMID:15192825, PMID:15234419, PMID:15242738, PMID:15466642, PMID:15500450, PMID:15528464, PMID:15547041, PMID:15840476, PMID:15913580, PMID:15935335, PMID:16038262, PMID:16132053, PMID:16155735, PMID:16487223, PMID:16556865, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17329207, PMID:17329209, PMID:17467628, PMID:17470695, PMID:17597962, PMID:17999538, PMID:18004376, PMID:18165683, PMID:18222468, PMID:18426444, PMID:18452873, PMID:18611041, PMID:18752142, PMID:19160088, PMID:19490272, PMID:19716085, PMID:19815527, PMID:19841300, PMID:19862833, PMID:19959132, PMID:20226272, PMID:20348026, PMID:20487114, PMID:20659946, PMID:20851114, PMID:21063070, PMID:21118729, PMID:21185501, PMID:21215473, PMID:21380488, PMID:21451124, PMID:21778721, PMID:21779290, PMID:22095730, PMID:22199116, PMID:22378279, PMID:22456477, PMID:22539601, PMID:22581653, PMID:22629021, PMID:22677073, PMID:22947121, PMID:22949429, PMID:23098067, PMID:23158531, PMID:23174487, PMID:23304551, PMID:23392653, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23861362, PMID:23890619, PMID:23935525, PMID:24033266, PMID:24055113, PMID:24190995, PMID:24217263, PMID:24284363, PMID:24357532, PMID:24388587, PMID:24606995, PMID:24666684, PMID:24667783, PMID:24762593, PMID:24912595, PMID:24920132, PMID:25344363, PMID:25348405, PMID:25608792, PMID:25637381, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25854863, PMID:25985138, PMID:25991456, PMID:26077850, PMID:26118460, PMID:26159999, PMID:26318259, PMID:26344792, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26669661, PMID:26704558, PMID:26937405, PMID:27041150, PMID:27159321, PMID:27251404, PMID:27451284, PMID:27650965, PMID:27884173, PMID:28302345, PMID:28360401, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28595573, PMID:28600177, PMID:28619993, PMID:28704380, PMID:28944242, PMID:28988457, PMID:29197658, PMID:29372044, PMID:30571187, PMID:30591322, PMID:30615648, PMID:31696929, PMID:12051962 RGD:1580508 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP 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: Surdo-cardiac syndrome
ClinVar PMID:9799083, PMID:10024302, PMID:10807545, PMID:11761407, PMID:14661677, PMID:15028050, PMID:15500450, PMID:15840476, PMID:16038262, PMID:16487223, PMID:17016049, PMID:18426444, PMID:19716085, PMID:19841300, PMID:22378279, PMID:22581653, PMID:22949429, PMID:23890619, PMID:24033266, PMID:24284363, PMID:24388587, PMID:24762593, PMID:25741868, PMID:26159999, PMID:26385840, PMID:26467025, PMID:26704558, PMID:28492532, PMID:28704380 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1
ClinVar PMID:12402336, PMID:18752142, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
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 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar PMID:23861362, PMID:24033266, PMID:24123366, PMID:25467552, PMID:25649125, PMID:25741868, PMID:26743238, PMID:28074886, PMID:28492532, PMID:28750076, PMID:29574703, PMID:30276209 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:17224476, PMID:20817017, PMID:22581653, PMID:23414114, PMID:24033266, PMID:24183960, PMID:25333069, PMID:25741868, PMID:25974115, PMID:27711072, PMID:28492532 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CALM2 calmodulin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:15316014, PMID:15840476, PMID:17210839, PMID:23388215, PMID:24917665, PMID:25741868, PMID:27516456, PMID:28492532 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,083...47,176,921
JBrowse link
G CALM3 calmodulin 3 IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID:9536092, PMID:11251997, PMID:11884389, PMID:14672715, PMID:15318349, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:17556197, PMID:18253147, PMID:19380584, PMID:19773168, PMID:20472890, PMID:22245016, PMID:22378279, PMID:22584458, PMID:22595201, PMID:23465283, PMID:23631430, PMID:23640888, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24070816, PMID:24123366, PMID:24503780, PMID:24917393, PMID:25741868, PMID:25757662, PMID:26159999, PMID:26467025, PMID:26498160, PMID:27312022, PMID:27483260, PMID:27600940, PMID:27930701, PMID:28407228, PMID:28492532, PMID:28898996, PMID:29396561, PMID:29501670, PMID:29961767, PMID:30055862, PMID:30704477, PMID:31043699 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136, PMID:19279339, PMID:20716751, PMID:21606390, PMID:21606396, PMID:24070718, PMID:25163546, PMID:25225338, PMID:25741868, PMID:25820315, PMID:28492532, PMID:30382575 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,617...7,586,714
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904, PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17597962, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome, LQT1 subtype
ClinVar PMID:8914737, PMID:9694858, PMID:10086971, PMID:10973849, PMID:11222472, PMID:11278781, PMID:11854117, PMID:15840476, PMID:15851119, PMID:16432067, PMID:18596570, PMID:19716085, PMID:19841300, PMID:20167303, PMID:20674198, PMID:21215473, PMID:22581653, PMID:22995991, PMID:23303164, PMID:23304551, PMID:24388587, PMID:25348405, PMID:25741868, PMID:26129877, PMID:26332594, PMID:26669661, PMID:27920829, PMID:28492532 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome, LQT1 subtype
ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1, recessive
ClinVar
OMIM
PMID:2294929, PMID:8487283, PMID:8528244, PMID:8818942, PMID:8872472, PMID:9024139, PMID:9312006, PMID:9323054, PMID:9328483, PMID:9386136, PMID:9570196, PMID:9641694, PMID:9654228, PMID:9693036, PMID:9702906, PMID:9799083, PMID:9927399, PMID:10024302, PMID:10086971, PMID:10090529, PMID:10090886, PMID:10220144, PMID:10220146, PMID:10367071, PMID:10376919, PMID:10477533, PMID:10482963, PMID:10483966, PMID:10560595, PMID:10704188, PMID:10728423, PMID:10737999, PMID:10807545, PMID:10868744, PMID:10973849, PMID:11021476, PMID:11087258, PMID:11140949, PMID:11162126, PMID:11216980, PMID:11278406, PMID:11351021, PMID:11530100, PMID:11668638, PMID:11668641, PMID:11684219, PMID:11761407, PMID:11799244, PMID:11997281, PMID:12051962, PMID:12175777, PMID:12205113, PMID:12205790, PMID:12402336, PMID:12477631, PMID:12522251, PMID:12566525, PMID:12690509, PMID:12702160, PMID:12736279, PMID:12820704, PMID:12877697, PMID:14510661, PMID:14531214, PMID:14661676, PMID:14661677, PMID:14678125, PMID:14731347, PMID:14756674, PMID:14760488, PMID:14998624, PMID:15028050, PMID:15051636, PMID:15140888, PMID:15176425, PMID:15192825, PMID:15234419, PMID:15242738, PMID:15466642, PMID:15500450, PMID:15528464, PMID:15547041, PMID:15746441, PMID:15781747, PMID:15840476, PMID:15851171, PMID:15913580, PMID:15935335, PMID:16038262, PMID:16132053, PMID:16155735, PMID:16246960, PMID:16253915, PMID:16414944, PMID:16487223, PMID:16556865, PMID:16556866, PMID:16623272, PMID:16627448, PMID:16818214, PMID:16922724, PMID:16937190, PMID:16981927, PMID:16987820, PMID:17016049, PMID:17053194, PMID:17091796, PMID:17161064, PMID:17192539, PMID:17210839, PMID:17224687, PMID:17329207, PMID:17329209, PMID:17467628, PMID:17470695, PMID:17597962, PMID:17905336, PMID:17984373, PMID:17999538, PMID:18165683, PMID:18174212, PMID:18222468, PMID:18239739, PMID:18308161, PMID:18426444, PMID:18452873, PMID:18580685, PMID:18611041, PMID:18752142, PMID:18774102, PMID:19114714, PMID:19160088, PMID:19261104, PMID:19348785, PMID:19490272, PMID:19590188, PMID:19716085, PMID:19808498, PMID:19815527, PMID:19825999, PMID:19841300, PMID:19843919, PMID:19862833, PMID:19934648, PMID:20044973, PMID:20138589, PMID:20186784, PMID:20196769, PMID:20226272, PMID:20368164, PMID:20421371, PMID:20541041, PMID:20659946, PMID:20660394, PMID:20850564, PMID:20851114, PMID:20960614, PMID:21063070, PMID:21118729, PMID:21131640, PMID:21185501, PMID:21215473, PMID:21350584, PMID:21451124, PMID:21511995, PMID:21576493, PMID:21778721, PMID:21779290, PMID:21810471, PMID:21854832, PMID:22095730, PMID:22199116, PMID:22309168, PMID:22378279, PMID:22429796, PMID:22456477, PMID:22509038, PMID:22539601, PMID:22581653, PMID:22613981, PMID:22629021, PMID:22677073, PMID:22708720, PMID:22727609, PMID:22947121, PMID:22949429, PMID:23000022, PMID:23075154, PMID:23092362, PMID:23098067, PMID:23124029, PMID:23130128, PMID:23158531, PMID:23174487, PMID:23251633, PMID:23304551, PMID:23350853, PMID:23392653, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23844633, PMID:23851063, PMID:23861362, PMID:23890619, PMID:23935525, PMID:23995044, PMID:24033266, PMID:24052033, PMID:24055113, PMID:24144883, PMID:24184248, PMID:24190995, PMID:24217263, PMID:24269949, PMID:24284363, PMID:24291113, PMID:24357532, PMID:24363352, PMID:24372464, PMID:24388587, PMID:24552659, PMID:24606995, PMID:24666684, PMID:24667783, PMID:24681627, PMID:24705789, PMID:24762593, PMID:24861447, PMID:24912595, PMID:24920132, PMID:24947509, PMID:25037568, PMID:25087618, PMID:25119684, PMID:25187895, PMID:25192979, PMID:25236808, PMID:25344363, PMID:25348405, PMID:25351510, PMID:25444851, PMID:25559286, PMID:25608792, PMID:25634836, PMID:25637381, PMID:25645639, PMID:25649125, PMID:25705178, PMID:25741868, PMID:25786344, PMID:25845942, PMID:25854863, PMID:25935074, PMID:25985138, PMID:25991456, PMID:26019114, PMID:26077850, PMID:26118460, PMID:26132555, PMID:26159999, PMID:26187847, PMID:26318259, PMID:26346102, PMID:26385840, PMID:26467025, PMID:26498160, PMID:26546361, PMID:26669661, PMID:26715165, PMID:26937405, PMID:27041096, PMID:27041150, PMID:27159321, PMID:27231019, PMID:27251404, PMID:27311732, PMID:27451284, PMID:27485560, PMID:27650965, PMID:27816319, PMID:27831900, PMID:27884173, PMID:27917693, PMID:27920829, PMID:28012188, PMID:28249770, PMID:28264985, PMID:28302345, PMID:28360401, PMID:28438721, PMID:28449774, PMID:28492532, PMID:28588847, PMID:28600177, PMID:28619993, PMID:28704380, PMID:28720088, PMID:28944242, PMID:28988457, PMID:29021305, PMID:29033053, PMID:29167462, PMID:29194874, PMID:29197658, PMID:29247119, PMID:29379719, PMID:29439887, PMID:29451064, PMID:29532034, PMID:29740400, PMID:29857160, PMID:29952348, PMID:30311386, PMID:30571187, PMID:30615648, PMID:31696929, PMID:32238909 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP 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
ClinVar Annotator: match by term: Long QT syndrome, LQT1 subtype
ClinVar PMID:9799083, PMID:10024302, PMID:10807545, PMID:11761407, PMID:14661677, PMID:15028050, PMID:15500450, PMID:15840476, PMID:16038262, PMID:16487223, PMID:16922724, PMID:16981927, PMID:17016049, PMID:18426444, PMID:19716085, PMID:19825999, PMID:19841300, PMID:19862833, PMID:22378279, PMID:22581653, PMID:22727609, PMID:22949429, PMID:23098067, PMID:23158531, PMID:23631430, PMID:23861362, PMID:23890619, PMID:24033266, PMID:24284363, PMID:24388587, PMID:24762593, PMID:25187895, PMID:25741868, PMID:26159999, PMID:26385840, PMID:26467025, PMID:27917693, PMID:28492532, PMID:28704380 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome, LQT1 subtype
ClinVar PMID:12402336, PMID:16414944, PMID:18752142, PMID:19716085, PMID:19841300, PMID:24033266, PMID:25741868, PMID:27041150, PMID:28492532 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G LOC106783508 nonconserved acetylation island sequence 52 enhancer IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 NCBI chr11:2,700,195...2,701,434 JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1, recessive
ClinVar PMID:12193783, PMID:12471205, PMID:14500339, PMID:15161528, PMID:15851227, PMID:15992732, PMID:16061744, PMID:16453014, PMID:16453024, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18362431, PMID:18378609, PMID:18452875, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22984773, PMID:23091201, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24951663, PMID:25065297, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26467025, PMID:28492532, PMID:29431662, PMID:30364184 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868, PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID:10377081, PMID:10508990, PMID:10727653, PMID:10807545, PMID:10961955, PMID:10973849, PMID:11463728, PMID:11901046, PMID:11997281, PMID:12193783, PMID:12471205, PMID:12569159, PMID:12639704, PMID:12877697, PMID:14500339, PMID:14760488, PMID:14985827, PMID:15161528, PMID:15599693, PMID:15689442, PMID:15840476, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16379539, PMID:16453014, PMID:16453024, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17275750, PMID:17675083, PMID:17892895, PMID:17967976, PMID:17993325, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18362431, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18508782, PMID:19026623, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19716085, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20564468, PMID:20875080, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22090165, PMID:22090166, PMID:22581653, PMID:22789973, PMID:22984773, PMID:23091201, PMID:23098067, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24762805, PMID:24784157, PMID:24871449, PMID:24951663, PMID:25065297, PMID:25348405, PMID:25741868, PMID:25757662, PMID:25904541, PMID:25923670, PMID:26467025, PMID:27381756, PMID:27554632, PMID:28492532, PMID:28725320, PMID:28781849, PMID:29431662, PMID:30364184 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar PMID:19684871, PMID:20009079, PMID:22584458, PMID:23834499, PMID:23861362, PMID:24014171, PMID:24319568, PMID:25650408, PMID:25741868, PMID:25956966, PMID:26159999, PMID:28492532 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:14672715, PMID:15318349, PMID:17556197, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:10086971, PMID:10973849, PMID:16922724, PMID:20181576, PMID:21419236, PMID:22581653, PMID:25741868, PMID:27000522, PMID:28492532 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:8528244, PMID:10086971, PMID:10376919, PMID:10973849, PMID:12702160, PMID:14678125, PMID:15028050, PMID:16627448, PMID:16922724, PMID:17470695, PMID:17984373, PMID:19490272, PMID:19716085, PMID:19841300, PMID:20368164, PMID:22095730, PMID:22581653, PMID:22949429, PMID:24217263, PMID:24861447, PMID:25192979, PMID:28492532 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,149,052...119,162,666
Ensembl chr11:119,149,052...119,162,653
JBrowse link
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,572,396...118,603,033
Ensembl chr11:118,572,390...118,603,033
JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,606...118,431,496
JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,896,136...118,926,071
Ensembl chr11:118,893,875...118,925,608
JBrowse link
G C2CD2L C2CD2 like IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,106,750...119,118,544
Ensembl chr11:119,102,198...119,118,544
JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CCDC153 coiled-coil domain containing 153 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,189,638...119,195,841
Ensembl chr11:119,189,638...119,196,769
JBrowse link
G CD3D CD3d molecule IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3e molecule IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD3G CD3g molecule IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,998,117...119,015,793
Ensembl chr11:118,998,138...119,015,793
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,747,763...118,791,696
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,096,505...119,101,884
Ensembl chr11:119,096,503...119,108,331
JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,971,398...118,981,601
Ensembl chr11:118,971,712...118,981,287
JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,854...119,095,467
JBrowse link
G HINFP histone H4 transcription factor IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,121,577...119,136,059
Ensembl chr11:119,121,580...119,136,059
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,044,187...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,544,536...118,576,456
Ensembl chr11:118,544,528...118,572,970
JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,193,725...118,225,089
Ensembl chr11:118,193,725...118,225,094
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536
JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365
JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016
JBrowse link
G PDZD3 PDZ domain containing 3 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,185,457...119,190,218
Ensembl chr11:119,185,457...119,190,223
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,606,296...118,658,028
Ensembl chr11:118,606,440...118,658,031
JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,157,849...118,176,639
Ensembl chr11:118,157,849...118,176,639
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar
OMIM
PMID:17592081, PMID:20226894, PMID:23631430, PMID:23861362, PMID:25741868, PMID:28492532, PMID:28837624 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,024,112...119,030,906
Ensembl chr11:119,024,114...119,030,906
JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,531,189...118,547,286
Ensembl chr11:118,531,041...118,547,280
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197
JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,585...118,399,211
Ensembl chr11:118,359,585...118,399,211
JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr11:119,067,792...119,081,972
Ensembl chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 11 ClinVar
OMIM
PMID:18093912, PMID:23861362, PMID:24033266, PMID:25326637, PMID:25741868, PMID:26159999, PMID:26230511, PMID:26704558, PMID:28074886, PMID:28492532, PMID:28750076, PMID:29574703 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 12 ClinVar
OMIM
PMID:18591664, PMID:19684871, PMID:20009079, PMID:22584458, PMID:23631430, PMID:23834499, PMID:23861362, PMID:24014171, PMID:24319568, PMID:25650408, PMID:25741868, PMID:25956966, PMID:26159999, PMID:28074886, PMID:28341588, PMID:28492532, PMID:28837624, PMID:30615648, PMID:30975432 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 13 OMIM
ClinVar
PMID:20560207, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 14 OMIM
ClinVar
PMID:23040497, PMID:23388215, PMID:24076290, PMID:25036739, PMID:25741868, PMID:26164367, PMID:26969752, PMID:27165696, PMID:28158429, PMID:28492532, PMID:31454269 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 15 ClinVar
OMIM
PMID:11569915, PMID:23388215, PMID:24917665, PMID:25741868, PMID:26164367, PMID:26969752, PMID:27165696, PMID:27516456, PMID:27765793, PMID:28492532 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,083...47,176,921
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 IAGP ClinVar Annotator: match by term: LONG QT SYNDROME 16 OMIM
ClinVar
PMID:25460178 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:23861362, PMID:28492532 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G ALG10 ALG10 alpha-1,2-glucosyltransferase IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:15280551 NCBI chr12:34,022,315...34,035,296
Ensembl chr12:34,022,468...34,029,694
JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP OMIM NCBI chr12:38,316,679...38,329,725
Ensembl chr12:38,316,762...38,329,721
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP 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
ClinVar
OMIM
PMID:2294929, PMID:7889573, PMID:8635257, PMID:8700910, PMID:8799887, PMID:8914737, PMID:8995352, PMID:9024139, PMID:9452080, PMID:9544837, PMID:9600240, PMID:9693036, PMID:9694858, PMID:9721698, PMID:9927399, PMID:10086971, PMID:10187793, PMID:10220144, PMID:10220146, PMID:10226095, PMID:10483966, PMID:10560244, PMID:10735633, PMID:10753933, PMID:10807545, PMID:10841244, PMID:10862094, PMID:10862104, PMID:10973849, PMID:10996323, PMID:11113008, PMID:11170080, PMID:11222472, PMID:11278781, PMID:11334843, PMID:11468227, PMID:11668638, PMID:11668641, PMID:11741928, PMID:11802537, PMID:11854117, PMID:11997281, PMID:12021266, PMID:12175777, PMID:12354768, PMID:12402336, PMID:12477631, PMID:12566525, PMID:12621127, PMID:12690509, PMID:12775564, PMID:12775586, PMID:12808265, PMID:12829173, PMID:12877697, PMID:14661677, PMID:14760488, PMID:14975928, PMID:14998624, PMID:15051636, PMID:15090700, PMID:15176425, PMID:15522280, PMID:15599693, PMID:15746444, PMID:15760896, PMID:15840476, PMID:15851119, PMID:16116052, PMID:16132053, PMID:16155735, PMID:16253915, PMID:16361248, PMID:16379539, PMID:16414944, PMID:16432067, PMID:16487223, PMID:16720674, PMID:16754261, PMID:16818214, PMID:16831322, PMID:16842670, PMID:16922724, PMID:17060380, PMID:17088455, PMID:17160940, PMID:17161064, PMID:17210839, PMID:17224687, PMID:17275752, PMID:17445409, PMID:17531263, PMID:17576861, PMID:17597962, PMID:17905336, PMID:18060054, PMID:18222980, PMID:18426444, PMID:18441445, PMID:18464931, PMID:18551196, PMID:18593567, PMID:18596570, PMID:18752142, PMID:18808722, PMID:19019189, PMID:19038855, PMID:19057127, PMID:19070294, PMID:19160088, PMID:19305409, PMID:19306396, PMID:19322600, PMID:19490267, PMID:19490382, PMID:19673885, PMID:19716085, PMID:19841298, PMID:19841300, PMID:19843919, PMID:19862833, PMID:19926013, PMID:19996378, PMID:20167303, PMID:20181576, PMID:20197117, PMID:20486126, PMID:20541041, PMID:20659946, PMID:20674198, PMID:20833965, PMID:20850565, PMID:20851114, PMID:20931094, PMID:20975234, PMID:21063070, PMID:21109023, PMID:21185501, PMID:21215473, PMID:21240260, PMID:21244686, PMID:21295269, PMID:21350584, PMID:21367833, PMID:21376840, PMID:21410720, PMID:21419236, PMID:21440677, PMID:21490315, PMID:21573751, PMID:21661061, PMID:21703926, PMID:21737021, PMID:21779290, PMID:21806934, PMID:21960720, PMID:22052944, PMID:22067087, PMID:22173492, PMID:22245016, PMID:22378279, PMID:22402074, PMID:22429796, PMID:22573844, PMID:22581653, PMID:22653970, PMID:22677073, PMID:22876326, PMID:22949429, PMID:22995991, PMID:23098067, PMID:23139254, PMID:23158531, PMID:23174487, PMID:23303164, PMID:23304551, PMID:23338923, PMID:23347029, PMID:23465283, PMID:23631430, PMID:23861362, PMID:23935525, PMID:23936059, PMID:24015048, PMID:24021552, PMID:24033266, PMID:24055113, PMID:24057343, PMID:24217263, PMID:24334129, PMID:24363352, PMID:24596401, PMID:24606995, PMID:24623279, PMID:24631775, PMID:24687331, PMID:25028483, PMID:25119684, PMID:25348405, PMID:25417810, PMID:25447171, PMID:25637381, PMID:25741868, PMID:25914329, PMID:25967940, PMID:26063740, PMID:26129877, PMID:26159999, PMID:26164358, PMID:26187847, PMID:26213684, PMID:26332594, PMID:26467025, PMID:26496715, PMID:26669661, PMID:26704558, PMID:26743238, PMID:26746457, PMID:26846766, PMID:26847485, PMID:26937405, PMID:26958806, PMID:26986070, PMID:27000522, PMID:27041096, PMID:27041150, PMID:27153395, PMID:27650965, PMID:27803431, PMID:27816319, PMID:27920829, PMID:28003625, PMID:28049825, PMID:28082916, PMID:28255936, PMID:28302345, PMID:28360401, PMID:28431243, PMID:28449774, PMID:28472724, PMID:28492532, PMID:28532774, PMID:28704380, PMID:28988457, PMID:29247119, PMID:29622001, PMID:29661707, PMID:29672598, PMID:29752375, PMID:29759541, PMID:29766885, PMID:30041777, PMID:30086531, PMID:30246897, PMID:30311386, PMID:31539150, PMID:32238909 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9570196, PMID:9654228, PMID:9799083, PMID:10477533, PMID:10973849, PMID:19716085, PMID:21810471, PMID:22629021, PMID:27485560, PMID:28492532, PMID:29857160 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609, PMID:21321465, PMID:22581653, PMID:22685113, PMID:25741868, PMID:28202948, PMID:28492532 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 2/3 ClinVar PMID:16922724, PMID:22581653, PMID:25417810 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724, PMID:22581653, PMID:22685113, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 2/5 ClinVar PMID:10973849, PMID:11854117, PMID:15051636, PMID:22581653 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
long QT syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Long QT syndrome 3
ClinVar Annotator: match by term: Long qt syndrome 3, acquired, susceptibility to
ClinVar PMID:10807545, PMID:11710892, PMID:11901046, PMID:12193783, PMID:12471205, PMID:14500339, PMID:15161528, PMID:15579534, PMID:15689442, PMID:15851227, PMID:15992732, PMID:16061744, PMID:16155735, PMID:16453014, PMID:16453024, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17227473, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18180363, PMID:18362431, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452875, PMID:19026623, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19597050, PMID:19716085, PMID:19841300, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21321465, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22984773, PMID:23091201, PMID:23321620, PMID:23861362, PMID:24033266, PMID:24055113, PMID:24332150, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24613995, PMID:24681144, PMID:24951663, PMID:25065297, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26129877, PMID:26467025, PMID:27077130, PMID:28391114, PMID:28492532, PMID:29167113, PMID:29431662, PMID:29728395, PMID:30311386, PMID:30364184 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 treatment IAGP
EXP
ClinVar Annotator: match by term: Long qt syndrome 3
ClinVar Annotator: match by term: Long QT syndrome 3
ClinVar Annotator: match by term: Long qt syndrome 3, acquired, susceptibility to
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2107088, PMID:3953067, PMID:7651517, PMID:7889574, PMID:8541846, PMID:8620612, PMID:8661019, PMID:8917568, PMID:9495298, PMID:9506831, PMID:9753711, PMID:10377081, PMID:10448858, PMID:10471492, PMID:10508990, PMID:10590249, PMID:10618304, PMID:10727653, PMID:10772658, PMID:10807545, PMID:10940383, PMID:10961955, PMID:10966831, PMID:10973849, PMID:11076825, PMID:11410597, PMID:11463728, PMID:11710892, PMID:11804990, PMID:11823453, PMID:11889015, PMID:11901046, PMID:11960580, PMID:11997281, PMID:12106943, PMID:12193783, PMID:12209021, PMID:12354768, PMID:12471205, PMID:12522116, PMID:12566525, PMID:12569159, PMID:12574143, PMID:12574983, PMID:12639704, PMID:12650885, PMID:12673799, PMID:12695286, PMID:12736279, PMID:12820704, PMID:12877697, PMID:14500339, PMID:14523039, PMID:14654377, PMID:14736542, PMID:14760488, PMID:14967853, PMID:14985827, PMID:14990510, PMID:14998624, PMID:15051636, PMID:15121794, PMID:15161528, PMID:15176425, PMID:15184283, PMID:15338453, PMID:15466642, PMID:15466643, PMID:15556047, PMID:15579534, PMID:15599693, PMID:15621041, PMID:15655131, PMID:15671429, PMID:15689442, PMID:15840476, PMID:15840483, PMID:15851227, PMID:15851440, PMID:15992732, PMID:15996170, PMID:15998675, PMID:15998690, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16254012, PMID:16267253, PMID:16325048, PMID:16344400, PMID:16379539, PMID:16414944, PMID:16453014, PMID:16453024, PMID:16540748, PMID:16568155, PMID:16611632, PMID:16684018, PMID:16707561, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17088455, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17210841, PMID:17227473, PMID:17275750, PMID:17331104, PMID:17368591, PMID:17587741, PMID:17605181, PMID:17646591, PMID:17675083, PMID:17805561, PMID:17854786, PMID:17892895, PMID:17905336, PMID:17908752, PMID:17967976, PMID:17993325, PMID:18071069, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18180363, PMID:18245395, PMID:18361072, PMID:18362431, PMID:18368697, PMID:18378609, PMID:18426444, PMID:18451998, PMID:18452873, PMID:18452875, PMID:18456723, PMID:18508782, PMID:18697752, PMID:18752142, PMID:18849657, PMID:18929331, PMID:18976777, PMID:19026623, PMID:19027780, PMID:19056759, PMID:19083750, PMID:19167409, PMID:19251209, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19322600, PMID:19406494, PMID:19412328, PMID:19597050, PMID:19606473, PMID:19666841, PMID:19716085, PMID:19762097, PMID:19799913, PMID:19841298, PMID:19841300, PMID:19862833, PMID:19996378, PMID:20031634, PMID:20090423, PMID:20100972, PMID:20102864, PMID:20123697, PMID:20129283, PMID:20384651, PMID:20403459, PMID:20448214, PMID:20458009, PMID:20470418, PMID:20486126, PMID:20539757, PMID:20609320, PMID:20636320, PMID:20646679, PMID:20875080, PMID:20981092, PMID:21051419, PMID:21070882, PMID:21109022, PMID:21126620, PMID:21167004, PMID:21185501, PMID:21193062, PMID:21273195, PMID:21321465, PMID:21325150, PMID:21350584, PMID:21385947, PMID:21410720, PMID:21483645, PMID:21498565, PMID:21596231, PMID:21621375, PMID:21622575, PMID:21705349, PMID:21726068, PMID:21824921, PMID:21840964, PMID:22247482, PMID:22277643, PMID:22331908, PMID:22337857, PMID:22370996, PMID:22373669, PMID:22378279, PMID:22519808, PMID:22581653, PMID:22677073, PMID:22682427, PMID:22685113, PMID:22710484, PMID:22721569, PMID:22766342, PMID:22840528, PMID:22885917, PMID:22984773, PMID:22995991, PMID:22999724, PMID:23008441, PMID:23091201, PMID:23098067, PMID:23158531, PMID:23174487, PMID:23299917, PMID:23321620, PMID:23382499, PMID:23414114, PMID:23465283, PMID:23571586, PMID:23631430, PMID:23714088, PMID:23791817, PMID:23805106, PMID:23838598, PMID:23853484, PMID:23861362, PMID:23874304, PMID:23936059, PMID:24033266, PMID:24055113, PMID:24059039, PMID:24136861, PMID:24144883, PMID:24167619, PMID:24317018, PMID:24332150, PMID:24349418, PMID:24400668, PMID:24463578, PMID:24529773, PMID:24573164, PMID:24606995, PMID:24613995, PMID:24631775, PMID:24653702, PMID:24667783, PMID:24681144, PMID:24709866, PMID:24721456, PMID:24721642, PMID:24736382, PMID:24762805, PMID:24784157, PMID:24815523, PMID:24871449, PMID:24895455, PMID:24951569, PMID:24951663, PMID:25051102, PMID:25065297, PMID:25163546, PMID:25171853, PMID:25172307, PMID:25179549, PMID:25210054, PMID:25210526, PMID:25274057, PMID:25348405, PMID:25351510, PMID:25410959, PMID:25554238, PMID:25624448, PMID:25637381, PMID:25650408, PMID:25741286, PMID:25741868, PMID:25757662, PMID:25815641, PMID:25829473, PMID:25904541, PMID:25923670, PMID:26022185, PMID:26111534, PMID:26129877, PMID:26131924, PMID:26159999, PMID:26173111, PMID:26209461, PMID:26213684, PMID:26220391, PMID:26282245, PMID:26332594, PMID:26406308, PMID:26467025, PMID:26467377, PMID:26633542, PMID:26636822, PMID:26669661, PMID:26743238, PMID:26746457, PMID:26749013, PMID:26822237, PMID:26884609, PMID:26888838, PMID:26916278, PMID:27041150, PMID:27066507, PMID:27077130, PMID:27153395, PMID:27287068, PMID:27332903, PMID:27381756, PMID:27435932, PMID:27554632, PMID:27566755, PMID:27707468, PMID:27711072, PMID:27930701, PMID:28069705, PMID:28074886, PMID:28087566, PMID:28150151, PMID:28202948, PMID:28265756, PMID:28301460, PMID:28341588, PMID:28391114, PMID:28412158, PMID:28416588, PMID:28472724, PMID:28491758, PMID:28492532, PMID:28493952, PMID:28498465, PMID:28549997, PMID:28567303, PMID:28573431, PMID:28600387, PMID:28638671, PMID:28725320, PMID:28781330, PMID:28781849, PMID:28790152, PMID:28798025, PMID:28807990, PMID:28831623, PMID:28834665, PMID:29032884, PMID:29167113, PMID:29202755, PMID:29247119, PMID:29306897, PMID:29331327, PMID:29431662, PMID:29540472, PMID:29540853, PMID:29574140, PMID:29672598, PMID:29728395, PMID:29759671, PMID:29764897, PMID:29874177, PMID:29884292, PMID:29997009, PMID:30059973, PMID:30079003, PMID:30084490, PMID:30086531, PMID:30146492, PMID:30311386, PMID:30364184, PMID:30419068, PMID:30662450, PMID:31262209, PMID:30566038 RGD:13831293 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
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 IAGP ClinVar Annotator: match by term: Long qt syndrome 3/6, digenic ClinVar PMID:16922724, PMID:22581653 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,024...34,371,389
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Long qt syndrome 3/6, digenic ClinVar PMID:9495298, PMID:9506831, PMID:10618304, PMID:10772658, PMID:10973849, PMID:12574983, PMID:15051636, PMID:15184283, PMID:15621041, PMID:16922724, PMID:19167409, PMID:19716085, PMID:19841300, PMID:20090423, PMID:22581653, PMID:28492532 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:7485162, PMID:12571597, PMID:15075330, PMID:15178757, PMID:16253912, PMID:17242276, PMID:18782775, PMID:18832177, PMID:22581653, PMID:23396983, PMID:23631430, PMID:23861362, PMID:24025405, PMID:24033266, PMID:25351510, PMID:25741868, PMID:26159999, PMID:26350513, PMID:27435932, PMID:28074886, PMID:28492532, PMID:29198934, PMID:29247119, PMID:29431110, PMID:29790872, PMID:30615648 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to OMIM
ClinVar
PMID:7828904, PMID:8899564, PMID:9328483, PMID:9354783, PMID:9354802, PMID:9445165, PMID:9834138, PMID:10400998, PMID:10428953, PMID:10807545, PMID:10973849, PMID:11320260, PMID:11692163, PMID:11874988, PMID:12402336, PMID:12566567, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:15840476, PMID:16132053, PMID:16266404, PMID:16414944, PMID:16487223, PMID:16818210, PMID:16823764, PMID:16887036, PMID:16914890, PMID:16922724, PMID:16945797, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17341399, PMID:17597962, PMID:18426444, PMID:18752142, PMID:18776039, PMID:19008479, PMID:19214780, PMID:19219384, PMID:19305408, PMID:19340287, PMID:19521339, PMID:19695459, PMID:19716085, PMID:19862833, PMID:19907016, PMID:20541041, PMID:20823649, PMID:21070882, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22166941, PMID:22378279, PMID:22581653, PMID:23124029, PMID:23510998, PMID:23631430, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:24561134, PMID:24606995, PMID:24710009, PMID:25037568, PMID:25637381, PMID:25650408, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26159999, PMID:26187847, PMID:26410412, PMID:26715165, PMID:26743238, PMID:26899768, PMID:26926294, PMID:28003625, PMID:28176637, PMID:28492532, PMID:28767663, PMID:28988457, PMID:29261713, PMID:29625280, PMID:29672598, PMID:29766885, PMID:30123799, PMID:30311386, PMID:30461122, PMID:30530868, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648, PMID:31521807, PMID:31535183 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr21:34,668,953...34,718,223
Ensembl chr21:34,669,389...34,718,227
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 6
ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to
ClinVar
OMIM
PMID:10219239, PMID:10220144, PMID:10973849, PMID:10984545, PMID:11034315, PMID:11101505, PMID:11468227, PMID:12185453, PMID:12402336, PMID:12923204, PMID:14661677, PMID:14760488, PMID:15368194, PMID:15599693, PMID:15840476, PMID:16000071, PMID:16487223, PMID:16922724, PMID:17161064, PMID:17210839, PMID:17275752, PMID:18006462, PMID:19219384, PMID:19716085, PMID:19841298, PMID:19863579, PMID:20042375, PMID:20817017, PMID:20981092, PMID:21626672, PMID:22378279, PMID:22581653, PMID:22677073, PMID:23098067, PMID:23382499, PMID:23465283, PMID:23631430, PMID:23861362, PMID:23890619, PMID:24033266, PMID:24055113, PMID:24144883, PMID:24403551, PMID:24606995, PMID:24631775, PMID:24681347, PMID:24796621, PMID:25333069, PMID:25637381, PMID:25741868, PMID:26159999, PMID:26220970, PMID:26284702, PMID:26633542, PMID:27435932, PMID:27650965, PMID:27884173, PMID:27920829, PMID:28341588, PMID:28492532, PMID:28600387, PMID:28794082, PMID:30311386 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,024...34,371,389
JBrowse link
G RCAN1 regulator of calcineurin 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr21:34,516,442...34,615,123
Ensembl chr21:34,513,142...34,615,113
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G SMIM11A small integral membrane protein 11A IAGP ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961
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 IAGP ClinVar Annotator: match by term: Long QT syndrome 9
ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to
ClinVar
OMIM
PMID:09536092, PMID:11251997, PMID:11884389, PMID:15580566, PMID:16770780, PMID:17060380, PMID:17210839, PMID:17275750, PMID:18253147, PMID:19380584, PMID:19773168, PMID:22245016, PMID:22378279, PMID:22584458, PMID:22595201, PMID:23465283, PMID:23640888, PMID:23861362, PMID:24021552, PMID:24033266, PMID:24070816, PMID:24123366, PMID:24503780, PMID:25741868, PMID:25757662, PMID:26159999, PMID:26467025, PMID:26498160, PMID:27312022, PMID:27483260, PMID:27600940, PMID:27930701, PMID:28407228, PMID:28492532, PMID:28898996, PMID:29396561, PMID:29501670, PMID:29961767, PMID:30704477, PMID:31043699 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677, PMID:15840476, PMID:17060380, PMID:19716085, PMID:19862833, PMID:22245016, PMID:22581653, PMID:23139254, PMID:23174487, PMID:23631430, PMID:23936059, PMID:24021552, PMID:24606995, PMID:25417810, PMID:25741868, PMID:25967940, PMID:26213684, PMID:28492532 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Long QT syndrome 9 ClinVar PMID:15580566, PMID:17275750, PMID:25741868 NCBI chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
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 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:24033266, PMID:24123366, PMID:25467552, PMID:25649125, PMID:25741868, PMID:26743238, PMID:28074886, PMID:28492532, PMID:28750076, PMID:29574703, PMID:30276209 NCBI chr 7:91,940,862...92,112,908
Ensembl chr 7:91,940,867...92,110,673
Ensembl chr 7:91,940,867...92,110,673
JBrowse link
G CALM2 calmodulin 2 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:11569915, PMID:23388215, PMID:24917665, PMID:26164367, PMID:26969752, PMID:27165696, PMID:27374306, PMID:27765793, PMID:28492532, PMID:30354306 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,083...47,176,921
JBrowse link
G CALM3 calmodulin 3 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:11569915, PMID:23388215, PMID:24563457, PMID:24816216, PMID:24958779, PMID:26969752, PMID:28492532 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:14672715, PMID:15318349, PMID:17556197, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:7828904, PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, PMID:14760488, PMID:15051636, PMID:15599693, PMID:16132053, PMID:16266404, PMID:16487223, PMID:16823764, PMID:16887036, PMID:16922724, PMID:17016049, PMID:17161064, PMID:17210839, PMID:17597962, PMID:18426444, PMID:19305408, PMID:19695459, PMID:20823649, PMID:21244686, PMID:21712262, PMID:22100668, PMID:22378279, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24400172, PMID:24499369, PMID:25737393, PMID:25741868, PMID:26132555, PMID:26743238, PMID:28003625, PMID:28492532, PMID:29625280, PMID:30311386, PMID:30847666, PMID:30910390, PMID:31308327, PMID:31376648, PMID:9445165 RGD:1580499 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,210
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23631430 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,364,024...34,371,389
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:15840476, PMID:19841300, PMID:22581653, PMID:22949429, PMID:25417810, PMID:26669661, PMID:28492532 NCBI chr 7:150,944,956...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP
EXP
ClinVar Annotator: match by term: Romano-Ward syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10560595, PMID:10728423, PMID:10973849, PMID:11668641, PMID:12175777, PMID:12402336, PMID:14661677, PMID:14678125, PMID:14760488, PMID:15004216, PMID:15466642, PMID:15840476, PMID:16132053, PMID:16556865, PMID:16922724, PMID:17161064, PMID:17210839, PMID:17470695, PMID:18752142, PMID:19716085, PMID:19841300, PMID:19862833, PMID:21185501, PMID:21350584, PMID:22199116, PMID:22378279, PMID:22429796, PMID:22581653, PMID:22677073, PMID:22949429, PMID:23098067, PMID:23392653, PMID:23571586, PMID:23861362, PMID:23935525, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25649125, PMID:25741868, PMID:25854863, PMID:25985138, PMID:26159999, PMID:26318259, PMID:26467025, PMID:26498160, PMID:26937405, PMID:28302345, PMID:28360401, PMID:28492532, PMID:28988457, PMID:29197658, PMID:30615648, PMID:31696929, PMID:9312006 RGD:1580509 NCBI chr11:2,445,008...2,849,110
Ensembl chr11:2,444,684...2,849,105
Ensembl chr11:2,444,684...2,849,105
JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:14661677, PMID:19716085, PMID:19841300, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,861,568
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:18752142, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr11:2,608,328...2,699,998
Ensembl chr11:2,608,328...2,699,994
JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:12193783, PMID:12471205, PMID:14500339, PMID:15161528, PMID:15851227, PMID:15992732, PMID:16061744, PMID:16453014, PMID:16453024, PMID:16731473, PMID:16922724, PMID:17185997, PMID:17275750, PMID:17892895, PMID:17967976, PMID:18362431, PMID:18378609, PMID:18452875, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22581653, PMID:22984773, PMID:23091201, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24951663, PMID:25065297, PMID:25741868, PMID:25757662, PMID:25923670, PMID:26467025, PMID:28492532, PMID:29431662, PMID:30364184 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:10508990, PMID:10807545, PMID:11463728, PMID:11997281, PMID:12193783, PMID:12471205, PMID:12569159, PMID:12639704, PMID:14500339, PMID:14760488, PMID:14985827, PMID:15161528, PMID:15599693, PMID:15689442, PMID:15851227, PMID:15992732, PMID:15996170, PMID:16061744, PMID:16132053, PMID:16155735, PMID:16239976, PMID:16453014, PMID:16453024, PMID:16712702, PMID:16731473, PMID:16922724, PMID:17161064, PMID:17185997, PMID:17210839, PMID:17275750, PMID:17675083, PMID:17892895, PMID:17967976, PMID:17993325, PMID:18088563, PMID:18093912, PMID:18156160, PMID:18362431, PMID:18378609, PMID:18426444, PMID:18452875, PMID:19026623, PMID:19083750, PMID:19302788, PMID:19305408, PMID:19305409, PMID:19841300, PMID:20110800, PMID:20129283, PMID:20403459, PMID:20470418, PMID:20486126, PMID:20875080, PMID:21325150, PMID:21385947, PMID:21498565, PMID:21621375, PMID:22090165, PMID:22090166, PMID:22581653, PMID:22789973, PMID:22984773, PMID:23091201, PMID:23098067, PMID:23861362, PMID:24033266, PMID:24332150, PMID:24951663, PMID:25065297, PMID:25348405, PMID:25741868, PMID:25757662, PMID:25904541, PMID:25923670, PMID:26467025, PMID:27554632, PMID:28492532, PMID:28725320, PMID:29431662, PMID:30364184 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28837624 NCBI chr20:33,407,957...33,443,853
Ensembl chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:14672715, PMID:15318349, PMID:17556197, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:8,619,400...8,745,035
Ensembl chr 3:8,619,400...8,745,040
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 IAGP
EXP
DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: Timothy syndrome
ClinVar Annotator: match by term: Long QT syndrome with syndactyly
ClinVar Annotator: match by term: Long QT syndrome 8
ClinVar Annotator: match by term: CACNA1C-Related Disorder
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15454078, PMID:15863612, PMID:17224476, PMID:18250309, PMID:19074970, PMID:20817017, PMID:21307850, PMID:21685391, PMID:21878566, PMID:21910241, PMID:22106044, PMID:22581653, PMID:23174487, PMID:23414114, PMID:23578275, PMID:23580742, PMID:23631430, PMID:23677916, PMID:23690510, PMID:23861362, PMID:24033266, PMID:24183960, PMID:24690944, PMID:24728418, PMID:25184293, PMID:25333069, PMID:25633834, PMID:25691416, PMID:25741868, PMID:25974115, PMID:26227324, PMID:26230511, PMID:26386135, PMID:26822303, PMID:27218670, PMID:27231019, PMID:27502440, PMID:27711072, PMID:27930701, PMID:28341588, PMID:28492532, PMID:28600387, PMID:28616568, PMID:29016939, PMID:29046645, PMID:29071820, PMID:30279520, PMID:30311386, PMID:30345660, PMID:15863612 RGD:1580173 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Timothy syndrome ClinVar PMID:20817017, PMID:22581653, PMID:23861362, PMID:24033266, PMID:24690944, PMID:25184293, PMID:25633834, PMID:25741868, PMID:26230511, PMID:26386135, PMID:27218670, PMID:27502440, PMID:27930701, PMID:28492532, PMID:29046645, PMID:30279520, PMID:30345660 NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,676,001...2,691,200
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    syndrome 7868
      long QT syndrome 274
        Andersen-Tawil syndrome 2
        Jervell-Lange Nielsen syndrome + 4
        Long QT Syndrome 1/2 2
        Long QT Syndrome 16 1
        Long QT Syndrome 2/3 2
        Long QT Syndrome 2/5 2
        Long QT Syndrome 3/6 2
        Romano-Ward Syndrome 16
        Timothy syndrome 2
        long QT syndrome 1 20
        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 2 8
        long QT syndrome 3 2
        long QT syndrome 4 1
        long QT syndrome 5 1
        long QT syndrome 6 6
        long QT syndrome 9 3
Path 2
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      cardiovascular system disease 3913
        heart disease 2780
          cardiomyopathy 1177
            intrinsic cardiomyopathy 812
              long QT syndrome 274
                Andersen-Tawil syndrome 2
                Jervell-Lange Nielsen syndrome + 4
                Long QT Syndrome 1/2 2
                Long QT Syndrome 16 1
                Long QT Syndrome 2/3 2
                Long QT Syndrome 2/5 2
                Long QT Syndrome 3/6 2
                Romano-Ward Syndrome 16
                Timothy syndrome 2
                long QT syndrome 1 20
                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 2 8
                long QT syndrome 3 2
                long QT syndrome 4 1
                long QT syndrome 5 1
                long QT syndrome 6 6
                long QT syndrome 9 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.