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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 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,296,538...7,311,856
Ensembl chr 4:7,296,209...7,311,878
JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
G Abcf1 ATP binding cassette subfamily F member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:3,309,914...3,322,828
Ensembl chr20:3,309,899...3,322,825
JBrowse link
G Abcf2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,122,850...7,135,607
Ensembl chr 4:7,122,890...7,135,669
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
JBrowse link
G Actl10 actin-like 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,054,085...150,056,869
Ensembl chr 3:150,055,749...150,056,789
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,202,330...7,253,386
Ensembl chr 4:7,202,330...7,253,072
JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Akap8 A-kinase anchoring protein 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:14,323,298...14,339,953
Ensembl chr 7:14,324,104...14,351,918
JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: 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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 susceptibility ISO 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 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:27,571,129...27,743,668 JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,496,043...78,515,582
Ensembl chr 4:78,496,043...78,515,584
JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:9,454,269...9,613,508
Ensembl chr16:9,486,832...9,613,528
JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:1,122,567...1,188,209
Ensembl chr 7:1,122,567...1,188,209
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:86,736,125...86,793,795
Ensembl chr11:86,736,142...86,793,791
JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,158,293...7,167,505
Ensembl chr 4:7,158,448...7,167,509
JBrowse link
G Asic3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,287,868...7,293,295
Ensembl chr 4:7,288,855...7,292,901
JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,492,010...150,579,870
Ensembl chr 3:150,574,473...150,579,870
JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,314,369...7,322,095
Ensembl chr 4:7,314,369...7,321,029
JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:222,746,023...222,788,439
Ensembl chr 1:222,746,023...222,786,942
JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:14,601,133...14,613,881
Ensembl chr10:14,599,197...14,613,878
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by null
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 chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:15,706,974...16,130,848
Ensembl chr 4:15,710,417...16,130,848
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:28492532 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
JBrowse link
G Cav3 caveolin 3 ISO 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 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:149,935,731...150,041,545
Ensembl chr 3:149,935,731...150,038,257
JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:94,375,134...94,382,154
Ensembl chr 7:94,375,020...94,383,024
JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:63,312,060...63,350,411
Ensembl chr 8:63,318,019...63,350,269
JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:126,774,010...126,914,085
Ensembl chr 7:126,775,516...126,913,585
JBrowse link
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,188,275...150,227,453
Ensembl chr 3:150,188,455...150,227,405
JBrowse link
G Chpf2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,108,461...7,113,940
Ensembl chr 4:7,108,462...7,113,919
JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:46,334,669...46,494,152
Ensembl chr12:46,334,665...46,494,174
JBrowse link
G Crygn crystallin, gamma N ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:6,900,811...6,909,167
Ensembl chr 4:6,903,198...6,909,167
JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:28790153 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367
JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588, PMID:28492532 NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:37,905,864...37,907,714
Ensembl chr19:37,905,864...37,907,714
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:27,175,564...27,194,018
Ensembl chr 4:27,175,243...27,194,018
JBrowse link
G Dip2a disco-interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:13,044,056...13,127,971
Ensembl chr20:13,044,104...13,127,487
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217, PMID:24033266, PMID:24690944, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsg2 desmoglein 2 ISO 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 chr18:15,579,322...15,637,720
Ensembl chr18:15,579,315...15,637,715
JBrowse link
G Dsp desmoplakin ISO 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 chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Dynlrb1 dynein light chain roadblock-type 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,761,329...150,782,493
Ensembl chr 3:150,761,329...150,782,493
JBrowse link
G E2f1 E2F transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Edem2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,232,741...151,258,559
Ensembl chr 3:151,232,751...151,258,580
JBrowse link
G Eif2s2 eukaryotic translation initiation factor 2 subunit beta ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,391,455...150,412,179
Ensembl chr 3:150,391,460...150,412,179
JBrowse link
G Elmod2 ELMO domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:24,467,964...24,487,445
Ensembl chr19:24,467,964...24,487,396
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
JBrowse link
G Fastk Fas-activated serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,260,521...7,264,590
Ensembl chr 4:7,260,575...7,264,589
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:70,285,181...70,356,568
Ensembl chr 3:70,285,219...70,356,568
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gbx1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,173,961...7,200,752
Ensembl chr 4:7,173,961...7,200,752
JBrowse link
G Ggt7 gamma-glutamyltransferase 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,005,960...151,029,941
Ensembl chr 3:151,006,531...151,032,302
JBrowse link
G Gimap1 GTPase, IMAP family member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,365,276...78,375,450
Ensembl chr 4:78,371,121...78,375,223
JBrowse link
G Gimap4 GTPase, IMAP family member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,320,230...78,327,144
Ensembl chr 4:78,320,190...78,327,144
JBrowse link
G Gimap5 GTPase, IMAP family member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,377,228...78,386,683
Ensembl chr 4:78,378,144...78,385,577
JBrowse link
G Gimap6 GTPase, IMAP family member 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,337,528...78,342,937
Ensembl chr 4:78,336,423...78,342,863
JBrowse link
G Gimap7 GTPase, IMAP family member 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,354,335...78,358,505
Ensembl chr 4:78,354,335...78,358,503
JBrowse link
G Gimap8 GTPase, IMAP family member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,283,356...78,294,838
Ensembl chr 4:78,283,026...78,294,845
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:105,684,300...105,824,405
Ensembl chr13:105,684,420...105,815,606
JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like ISO 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 8:122,957,570...122,987,236
Ensembl chr 8:122,954,948...122,987,191
JBrowse link
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
G Guf1 GUF1 homolog, GTPase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:62,609,484...62,628,862
Ensembl chr14:62,609,484...62,628,862
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:63,599,907...63,637,327
Ensembl chr 8:63,600,663...63,639,654
JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:10,134,726...10,152,976
Ensembl chr17:10,137,974...10,152,956
JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:32,018,027...32,054,494 JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:18,516,253...18,554,536
Ensembl chr 7:18,516,512...18,554,227
JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:170,578,941...170,585,192
Ensembl chr 1:170,578,889...170,585,189
JBrowse link
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:24,446,002...24,493,819
Ensembl chr 5:24,445,886...24,493,670
JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,660,665...150,752,016
Ensembl chr 3:150,686,638...150,749,827
JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:159,709,998...159,776,536
Ensembl chr 3:159,712,325...159,775,643
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 susceptibility ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
DNA:polymorphism:cds:p.D85N(human)
CTD Direct Evidence: marker/mechanism
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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome
CTD Direct Evidence: marker/mechanism
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 chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868 NCBI chr 1:165,189,934...165,196,949
Ensembl chr 1:165,189,985...165,196,948
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long 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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome
ClinVar PMID:11371347, PMID:11841151, PMID:11861044, PMID:12045162, PMID:12086641, 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 chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO 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 chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 severity ISO
IAGP
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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto IAGP RGD PMID:16368876 RGD:1581602
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:52,976,505...53,026,750
Ensembl chr13:52,976,507...53,023,103
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link
G Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,117,533...145,147,397
Ensembl chr 4:145,117,533...145,147,397
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:2,557,267...2,568,416
Ensembl chr12:2,557,275...2,568,382
JBrowse link
G Lrrd1 leucine-rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:27,403,299...27,432,649
Ensembl chr 4:27,404,663...27,426,179
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Mdn1 midasin AAA ATPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:47,894,526...48,036,071
Ensembl chr 5:47,894,530...48,036,287
JBrowse link
G Mir499a microRNA 499a ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,138,862...151,138,926
Ensembl chr 3:151,138,862...151,138,926
JBrowse link
G Mir671 microRNA 671 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,108,747...7,108,827
Ensembl chr 4:7,108,738...7,108,835
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Mybpc3 myosin binding protein C3 ISO 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 chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:211,158,902...211,173,036
Ensembl chr 2:211,159,062...211,173,786
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868, PMID:27532257, PMID:28492532 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,105,038...151,150,621
Ensembl chr 3:151,126,591...151,150,344
JBrowse link
G Mylk4 myosin light chain kinase family, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:32,980,753...33,056,578
Ensembl chr17:33,028,293...33,045,690
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,919,317...150,990,391
Ensembl chr 3:150,919,317...150,960,030
JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:84,141,014...84,247,038
Ensembl chr17:84,140,489...84,488,601
JBrowse link
G Necab3 N-terminal EF-hand calcium binding protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,047,826...150,062,806
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 NCBI chr 2:257,452,937...257,484,607
Ensembl chr 2:257,453,347...257,484,587
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:88,653,123...88,943,976 JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr5a2 nuclear receptor subfamily 5, group A, member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:53,750,470...53,870,288
Ensembl chr13:53,750,473...53,870,428
JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:14,658,225...14,742,478
Ensembl chr11:14,658,225...14,741,563
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:28492532 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
JBrowse link
G Nub1 negative regulator of ubiquitin-like proteins 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:6,950,870...6,981,400
Ensembl chr 4:6,951,478...6,978,073
JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
G Pigu phosphatidylinositol glycan anchor biosynthesis, class U ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,803,096...150,885,597
Ensembl chr 3:150,803,097...150,885,616
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:49,535,122...49,624,291
Ensembl chr19:49,535,792...49,623,758
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:12,840,907...12,851,153
Ensembl chr 7:12,840,938...12,851,153
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19931775 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO 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 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Procr protein C receptor ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,285,321...151,289,581
Ensembl chr 3:151,285,249...151,289,595
JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:119,375,790...119,386,551
Ensembl chr 4:119,375,778...119,386,590
JBrowse link
G Prss12 serine protease 12 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:227,657,983...227,717,884
Ensembl chr 2:227,657,983...227,717,884
JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:12,798,310...12,804,668
Ensembl chr 7:12,798,868...12,804,283
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21097842 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptov1 PTOV1, extended AT-hook containing adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:100,859,346...100,866,917
Ensembl chr 1:100,859,349...100,865,894
JBrowse link
G Pxmp4 peroxisomal membrane protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,091,646...150,108,893
Ensembl chr 3:150,091,630...150,108,898
JBrowse link
G Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:144,537,329...144,620,606
Ensembl chr 4:144,536,729...144,620,731
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:76,386,971...76,661,530
Ensembl chr 6:76,396,784...76,608,864
JBrowse link
G Raly RALY heterogeneous nuclear ribonucleoprotein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,322,834...150,387,345
Ensembl chr 3:150,323,116...150,387,332
JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663, PMID:23396983, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26498160, PMID:26656175, PMID:27296017, PMID:28492532, PMID:30775854 NCBI chr 1:274,391,932...274,589,816
Ensembl chr 1:274,391,932...274,589,816
JBrowse link
G Rem1 RRAD and GEM like GTPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:148,108,500...148,116,992
Ensembl chr 3:148,108,539...148,116,991
JBrowse link
G Repin1 replication initiator 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,232,454...78,237,498
Ensembl chr 4:78,233,332...78,236,781
JBrowse link
G RGD1561517 similar to chromosome 20 open reading frame 144 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,052,310...150,053,674
Ensembl chr 3:150,052,483...150,053,670
JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:6,827,429...6,873,384
Ensembl chr 4:6,827,429...6,873,383
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 5:169,486,253...169,500,451
Ensembl chr 5:169,486,257...169,499,268
JBrowse link
G Ryr2 ryanodine receptor 2 ISO 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 chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Long Q-T syndrome ClinVar PMID:30311386 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291, PMID:19522081, PMID:23861362, PMID:24529773, PMID:25668026, PMID:25741868, PMID:26042039, PMID:26467025, PMID:28492532 NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar PMID:23861362, PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome
CTD Direct Evidence: marker/mechanism
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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Sdc1 syndecan 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
JBrowse link
G Shank3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:61,320,480...61,416,560
Ensembl chr11:61,321,459...61,417,842
JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:10,937,622...10,943,048
Ensembl chr 7:10,937,599...10,943,063
JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:167,142,182...167,174,203
Ensembl chr 5:167,141,875...167,174,310
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:210,249,663...210,299,770
Ensembl chr 2:210,249,663...210,299,770
JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,076,710...7,108,334
Ensembl chr 4:7,076,759...7,108,328
JBrowse link
G Smim11a small integral membrane protein 11A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:32,450,508...32,460,244
Ensembl chr11:32,450,587...32,460,238
JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:3,808,596...3,827,425
Ensembl chr 3:3,809,407...3,824,284
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:69,127,708...69,131,539
Ensembl chr 8:69,127,708...69,131,539
JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:55,772,377...56,171,669
Ensembl chr 4:55,772,377...56,171,668
JBrowse link
G Snta1 syntrophin, alpha 1 ISO 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 chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:144,638,782...144,869,961
Ensembl chr 4:144,638,335...144,869,919
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: 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 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:77,837,073...78,098,731
Ensembl chr14:77,829,400...78,097,919
JBrowse link
G Syk spleen associated tyrosine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:12,614,311...12,669,568
Ensembl chr17:12,614,311...12,669,573
JBrowse link
G Taf10 TATA-box binding protein associated factor 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:170,585,160...170,586,428
Ensembl chr 1:170,585,167...170,586,603
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:259,681,435...259,691,881
Ensembl chr 1:259,682,249...259,691,742
JBrowse link
G Tdrd6 tudor domain containing 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:19,917,613...19,932,888
Ensembl chr 9:19,917,603...19,932,920
JBrowse link
G Tecrl trans-2,3-enoyl-CoA reductase-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:27861123, PMID:30790670 NCBI chr14:26,662,851...26,735,878
Ensembl chr14:26,662,965...26,737,657
JBrowse link
G Tgfbrap1 transforming growth factor, beta receptor associated protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:49,852,560...49,902,943
Ensembl chr 9:49,852,560...49,902,943
JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:144,985,850...145,010,164
Ensembl chr 4:144,985,880...145,008,831
JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:146,027,821...146,029,840
Ensembl chr 1:146,027,822...146,029,840
JBrowse link
G Tmem176a transmembrane protein 176A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,458,735...78,462,415
Ensembl chr 4:78,458,625...78,462,423
JBrowse link
G Tmem176b transmembrane protein 176B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,450,724...78,458,600
Ensembl chr 4:78,450,724...78,458,179
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link
G Tmub1 transmembrane and ubiquitin-like domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:7,257,752...7,260,318
Ensembl chr 4:7,257,752...7,260,317
JBrowse link
G Top2a DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Tp53inp2 tumor protein p53 inducible nuclear protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:150,910,398...150,918,525
Ensembl chr 3:150,910,398...150,918,525
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266, PMID:25741868 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Trhde thyrotropin-releasing hormone degrading enzyme ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:57,253,023...57,679,795
Ensembl chr 7:57,253,023...57,679,795
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
JBrowse link
G Trpc4ap transient receptor potential cation channel, subfamily C, member 4 associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:151,150,396...151,224,123
Ensembl chr 3:151,150,396...151,224,123
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
G Ttn titin ISO 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 3:63,565,160...63,837,815 JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:157,848,162...157,956,137
Ensembl chr 5:157,848,206...157,956,132
JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:76,789,110...76,835,517
NCBI chr 7:76,839,661...76,907,441
Ensembl chr 7:76,789,531...76,853,840
JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:126,636,596...126,656,513
Ensembl chr 6:126,636,491...126,656,507
JBrowse link
G Upp1 uridine phosphorylase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:89,314,234...89,334,060
Ensembl chr14:89,314,176...89,334,276
JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:117,280,690...117,291,729
Ensembl chr 8:117,280,705...117,291,351
JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr15:3,455,211...3,544,738
Ensembl chr15:3,455,211...3,544,702
JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link
G Wdr25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:132,802,327...132,932,254
Ensembl chr 6:132,805,794...132,932,242
JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
JBrowse link
G Wdr86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:6,942,415...6,948,912
Ensembl chr 4:6,931,495...6,948,243
JBrowse link
G Wwc2 WW and C2 domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:47,368,768...47,533,816
Ensembl chr16:47,368,768...47,533,816
JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:89,701,899...89,741,919
Ensembl chr17:89,704,102...89,741,321
JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:11,928,150...11,935,415
Ensembl chr10:11,928,139...11,935,382
JBrowse link
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555, PMID:28492532 NCBI chr 3:150,114,853...150,172,425 JBrowse link
G Zfp775 zinc finger protein 775 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702, PMID:18348270, PMID:19443486, PMID:25606385, PMID:28492532 NCBI chr 4:78,240,326...78,258,545
Ensembl chr 4:78,240,385...78,258,545
JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:78,136,183...78,165,230 JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen 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 Annotator: match by OMIM:170390
OMIM
ClinVar
CTD
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 chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO 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 chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
Jervell And Lange-Nielsen Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 OMIM
ClinVar
PMID: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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
Jervell-Lange Nielsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
DNA:mutation:splice junction:G477+1A(human)
CTD Direct Evidence: marker/mechanism
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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1
ClinVar Annotator: match by term: Surdo-cardiac syndrome
ClinVar Annotator: match by term: KCNQ1-related Jervell and Lange-Nielsen syndrome
ClinVar Annotator: match by OMIM:220400
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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
long QT syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: 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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO 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 chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Calm2 calmodulin 2 ISO 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 6:11,067,675...11,080,078
Ensembl chr15:65,506,874...65,507,968
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID: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 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136, PMID:19279339, PMID:20716751, PMID:21606390, PMID:21606396, PMID:24070718, PMID:25163546, PMID:25225338, PMID:25741868, PMID:25820315, PMID:28492532, PMID:30382575 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO 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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: 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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by synonym: 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, LQT1 subtype
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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID: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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO 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 chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Ssuh2 ssu-2 homolog ISO 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 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
Long QT Syndrome 1/2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:10086971, PMID:10973849, PMID:16922724, PMID:20181576, PMID:21419236, PMID:22581653, PMID:25741868, PMID:27000522, PMID:28492532 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:8528244, PMID:10086971, PMID:10376919, PMID:10973849, PMID:12702160, 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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
long QT syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867
JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10
ClinVar Annotator: match by OMIM:611819
OMIM
ClinVar
PMID:17592081, PMID:20226894, PMID:23631430, PMID:23861362, PMID:25741868, PMID:28492532, PMID:28837624 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
long QT syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 11
ClinVar Annotator: match by OMIM:611820
OMIM
ClinVar
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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
long QT syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by OMIM:612955
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 chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
long QT syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Long QT syndrome 13 OMIM
ClinVar
PMID:20560207, PMID:24574546, PMID:25741868, PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
long QT syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 14 OMIM
ClinVar
PMID:23040497, PMID:23388215, PMID:24076290, PMID:25036739, PMID:25741868, PMID:26164367, PMID:26969752, PMID:27165696, PMID:28158429, PMID:28492532, PMID:31454269 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
JBrowse link
long QT syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 15 ClinVar
OMIM
PMID:11569915, PMID:23388215, PMID:24917665, PMID:25741868, PMID:26164367, PMID:26969752, PMID:27165696, PMID:27516456, PMID:27765793, PMID:28492532 NCBI chr 6:11,067,675...11,080,078
Ensembl chr15:65,506,874...65,507,968
JBrowse link
Long QT Syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: LONG QT SYNDROME 16 OMIM
ClinVar
PMID:25460178 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
long QT syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:23861362, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISO ClinVar Annotator: match by OMIM:613688 ClinVar PMID:15280551 NCBI chr 7:131,330,913...131,336,183
Ensembl chr 7:131,330,913...131,336,183
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2
ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to
ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced
ClinVar Annotator: match by OMIM:613688
OMIM
ClinVar
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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO 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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609, PMID:21321465, PMID:22581653, PMID:22685113, PMID:25741868, PMID:28202948, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
Long QT Syndrome 2/3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3 ClinVar PMID:16922724, PMID:22581653, PMID:25417810 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724, PMID:22581653, PMID:22685113, PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Long QT Syndrome 2/5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:8899564, PMID:9445165, PMID:10807545, PMID:12402336, PMID:14661677, 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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5 ClinVar PMID:10973849, PMID:11854117, PMID:15051636, PMID:22581653 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
long QT syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn5a sodium voltage-gated channel alpha subunit 5 treatment ISO 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 Annotator: match by OMIM:603830
OMIM
ClinVar
CTD
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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
Long QT Syndrome 3/6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long qt syndrome 3/6, digenic ClinVar PMID:16922724, PMID:22581653 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long qt syndrome 3/6, digenic ClinVar PMID:9495298, PMID:9506831, PMID: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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
long QT syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: 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 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
long QT syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: 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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
long QT syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr11:32,655,653...32,698,004
Ensembl chr11:32,655,616...32,699,382
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Long QT syndrome 6
ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to
OMIM
ClinVar
PMID:10219239, PMID:10220144, PMID:10973849, PMID:10984545, PMID:11034315, 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 chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
G Smim11a small integral membrane protein 11A ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672, PMID:28492532 NCBI chr11:32,450,508...32,460,244
Ensembl chr11:32,450,587...32,460,238
JBrowse link
long QT syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 9
ClinVar Annotator: match by OMIM:611818
OMIM
ClinVar
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 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677, PMID:15840476, PMID:17060380, PMID:19716085, PMID:19862833, 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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Long QT syndrome 9
ClinVar PMID:15580566, PMID:17275750, PMID:25741868 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
Romano-Ward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar 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 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Calm2 calmodulin 2 ISO 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 6:11,067,675...11,080,078
Ensembl chr15:65,506,874...65,507,968
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:11569915, PMID:23388215, PMID:24563457, PMID:24816216, PMID:24958779, PMID:26969752, PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Cav3 caveolin 3 ISO 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 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO 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 chr11:32,498,260...32,511,202
Ensembl chr11:32,498,261...32,508,420
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23631430 NCBI chr11:32,434,786...32,447,264
Ensembl chr11:32,440,237...32,447,259
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO 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 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:192500
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 chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO 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 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:28837624 NCBI chr 3:149,874,023...149,905,980
Ensembl chr 3:149,874,030...149,905,944
JBrowse link
G Ssuh2 ssu-2 homolog ISO 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 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
Timothy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO 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 OMIM:601005
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 chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      long QT syndrome 251
        Andersen-Tawil syndrome 2
        Jervell-Lange Nielsen syndrome + 2
        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 13
        Timothy syndrome 1
        long QT syndrome 1 16
        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 7
        long QT syndrome 3 1
        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 16045
    disease of anatomical entity 15292
      cardiovascular system disease 4445
        heart disease 2665
          cardiomyopathy 1086
            intrinsic cardiomyopathy 736
              long QT syndrome 251
                Andersen-Tawil syndrome 2
                Jervell-Lange Nielsen syndrome + 2
                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 13
                Timothy syndrome 1
                long QT syndrome 1 16
                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 7
                long QT syndrome 3 1
                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.