Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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


show annotations for term's descendants           Sort by:
long QT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb8 ATP binding cassette subfamily B member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,766,206...10,783,598
Ensembl chr 4:10,768,281...10,783,589 		JBrowse link
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Abcf1 ATP binding cassette subfamily F member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:2,802,519...2,815,433
Ensembl chr20:2,802,488...2,815,433 		JBrowse link
G Abcf2 ATP binding cassette subfamily F member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,594,802...10,607,620
Ensembl chr 4:10,594,907...10,607,606 		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 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Actl10 actin-like 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,057,061...143,058,561
Ensembl chr 3:143,057,402...143,058,442 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29247119 PMID:31983221 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,674,746...10,724,848
Ensembl chr 4:10,674,064...10,725,244 		JBrowse link
G Ahcy adenosylhomocysteinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Akap8 A-kinase anchoring protein 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:11,316,224...11,332,523
Ensembl chr 7:11,316,228...11,332,399 		JBrowse link
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18093912 PMID:22378279 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 susceptibility ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated		 ClinVar
RGD		 PMID:7485162 PMID:9536098 PMID:11334825 PMID:12571597 PMID:15075330 More... RGD:734572 NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		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 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719 		JBrowse link
G Aoc1 amine oxidase, copper containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,812,260...77,831,846
Ensembl chr 4:77,812,260...77,831,840 		JBrowse link
G Arhgap22 Rho GTPase activating protein 22 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:8,473,806...8,631,552
Ensembl chr16:8,476,306...8,631,548 		JBrowse link
G Arl13b ADP-ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Asb10 ankyrin repeat and SOCS box-containing 10 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,630,318...10,644,270
Ensembl chr 4:10,630,448...10,639,060 		JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:198,148,999...198,151,406
Ensembl chr 1:198,148,999...198,151,406 		JBrowse link
G Asic3 acid sensing ion channel subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,760,509...10,764,987
Ensembl chr 4:10,760,597...10,764,643 		JBrowse link
G Asip agouti signaling protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Atg9b autophagy related 9B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,784,934...10,793,832
Ensembl chr 4:10,786,114...10,793,651 		JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25617006 PMID:26512958 PMID:28492532 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649 		JBrowse link
G C3h20orf144 similar to human chromosome 20 open reading frame 144 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,053,971...143,055,327
Ensembl chr 3:143,054,001...143,055,323 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:2547171 PMID:9536098 PMID:12166659 PMID:15454078 PMID:15863612 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:152,408,588...152,521,478
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:20817017 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24917665 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081 		JBrowse link
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12386154 PMID:20301466 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		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 3:142,936,945...143,043,205
Ensembl chr 3:142,936,985...143,043,197 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Cd276 Cd276 molecule ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380 		JBrowse link
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Cdk5 cyclin-dependent kinase 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		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 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,170,859...143,211,376
Ensembl chr 3:143,170,902...143,210,844 		JBrowse link
G Chpf2 chondroitin polymerizing factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,578,470...10,585,940
Ensembl chr 4:10,580,462...10,585,916 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Cit citron rho-interacting serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:40,603,073...40,764,846
Ensembl chr12:40,605,563...40,763,860 		JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Crygn crystallin, gamma N ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,394,015...10,401,542
Ensembl chr 4:10,394,020...10,401,543 		JBrowse link
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 PMID:29255176 More... NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588 PMID:28492532 NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978 		JBrowse link
G Ctrl chymotrypsin-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:33,827,279...33,829,129
Ensembl chr19:33,827,229...33,833,626 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26988683 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:152,358,267...152,395,747
Ensembl chr 4:152,358,241...152,397,145 		JBrowse link
G Dip2a disco-interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:12,284,566...12,371,068
Ensembl chr20:12,284,654...12,370,217 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217 PMID:24033266 PMID:24690944 PMID:25741868 PMID:26467025 More... NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 4:7,589,386...8,508,666
Ensembl chr 4:7,591,009...8,508,532 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24832006 PMID:25741868 PMID:28492532 PMID:30371277 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:16467215 PMID:16774985 PMID:17576681 PMID:18382419 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Dynlrb1 dynein light chain roadblock-type 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,742,427...143,764,227
Ensembl chr 3:143,742,586...143,764,227 		JBrowse link
G E2f1 E2F transcription factor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		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 3:144,201,604...144,227,423
Ensembl chr 3:144,201,605...144,227,485 		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 3:143,374,652...143,395,460
Ensembl chr 3:143,373,686...143,395,432 		JBrowse link
G Elmod2 ELMO domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:24,786,166...24,805,626
Ensembl chr19:24,786,241...24,805,130 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G Fastk Fas-activated serine/threonine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,732,273...10,736,332
Ensembl chr 4:10,732,256...10,737,430 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fsip2 fibrous sheath-interacting protein 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:67,962,345...68,032,866
Ensembl chr 3:67,962,360...68,032,868 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,837,629...9,871,141
Ensembl chr 4:9,837,629...9,871,140 		JBrowse link
G Galntl5 polypeptide N-acetylgalactosaminyltransferase-like 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,873,426...9,923,297
Ensembl chr 4:9,873,428...9,923,136 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gbx1 gastrulation brain homeobox 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,645,957...10,672,486
Ensembl chr 4:10,645,957...10,672,486 		JBrowse link
G Ggt7 gamma-glutamyltransferase 7 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,978,073...144,004,597
Ensembl chr 3:143,978,082...144,001,492 		JBrowse link
G Gimap1 GTPase, IMAP family member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,687,581...77,691,468
Ensembl chr 4:77,682,171...77,691,866 		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 4:77,636,401...77,643,315
Ensembl chr 4:77,636,401...77,643,306 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086 		JBrowse link
G Gimap6 GTPase, IMAP family member 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,653,703...77,659,112
Ensembl chr 4:77,652,610...77,659,116 		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 4:77,670,522...77,674,692
Ensembl chr 4:77,670,367...77,675,272 		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 4:77,600,104...77,611,593
Ensembl chr 4:77,600,186...77,611,590 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Gpd1l glycerol-3-phosphate dehydrogenase 1 like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 More... NCBI chr 8:114,591,103...114,620,771
Ensembl chr 8:114,588,487...114,620,723 		JBrowse link
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198 		JBrowse link
G Guf1 GTP binding elongation factor GUF1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:38,537,953...38,557,331
Ensembl chr14:38,537,953...38,557,331 		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 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:9,596,950...9,614,847
Ensembl chr17:9,599,865...9,614,863 		JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867 		JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:14,438,703...14,476,781
Ensembl chr 7:14,438,688...14,476,762 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G Ilk integrin-linked kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140 		JBrowse link
G Ints8 integrator complex subunit 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740 		JBrowse link
G Itch itchy E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,642,348...143,733,745
Ensembl chr 3:143,645,637...143,733,543 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		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 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904 		JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 susceptibility ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
DNA:polymorphism:cds:p.D85N(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... RGD:1580499, RGD:11072353, RGD:1580502 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12185453 More... RGD:1580502 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... RGD:1580502 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12045162 PMID:12086641 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated ClinVar PMID:9536098 PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 severity ISO
IAGP		 ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
DNA:deletion:exon (rat)
CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human)		 ClinVar
CTD
RGD		 PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:234518 More... RGD:1580502, RGD:1581602, RGD:7247613 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		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 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,317,110...146,340,073
Ensembl chr 4:146,313,541...146,340,463 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10580070 PMID:11102973 PMID:12920062 PMID:17334235 PMID:18414213 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		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 chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412 		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 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173 		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 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Mdn1 midasin AAA ATPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:47,055,435...47,190,426
Ensembl chr 5:47,055,447...47,186,332 		JBrowse link
G Mir499a microRNA 499a ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,110,469...144,110,533
Ensembl chr 3:144,110,469...144,110,533 		JBrowse link
G Mir671 microRNA 671 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,580,747...10,580,827
Ensembl chr 4:10,580,738...10,580,835 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:208206 PMID:16335287 PMID:16715312 PMID:18533079 PMID:18957093 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:26383259 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:23283745 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28492532 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084 		JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11174330 PMID:20641121 PMID:21239446 PMID:22131351 PMID:23426552 More... NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:141,376,450...141,388,357
Ensembl chr 3:141,376,691...141,387,728 		JBrowse link
G Mylk4 myosin light chain kinase family, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:31,669,028...31,747,250
Ensembl chr17:31,661,513...31,744,544 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:25,429,898...25,522,443
Ensembl chr20:25,436,843...25,522,443 		JBrowse link
G Ncoa6 nuclear receptor coactivator 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,890,896...143,961,916
Ensembl chr 3:143,890,896...143,952,268 		JBrowse link
G Nebl nebulette ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr17:80,113,891...80,466,331
Ensembl chr17:80,118,543...80,466,210 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nexn nexilin (F actin binding protein) ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567 NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		JBrowse link
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		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 chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		JBrowse link
G Nrip1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761 		JBrowse link
G Nub1 negative regulator of ubiquitin-like proteins 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,442,917...10,473,689
Ensembl chr 4:10,442,917...10,473,694 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:1146501 PMID:09536092 PMID:9536098 PMID:9537420 PMID:10227634 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Pigu phosphatidylinositol glycan anchor biosynthesis, class U ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,784,831...143,881,268
Ensembl chr 3:143,784,832...143,880,807 		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 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pkd1l2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:45,049,713...45,136,503
Ensembl chr19:45,049,719...45,135,532 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 More... NCBI chr11:84,661,783...84,727,730
Ensembl chr11:84,661,783...84,727,730 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19931775 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,010,890...10,252,155
Ensembl chr 4:10,010,890...10,252,142 		JBrowse link
G Procr protein C receptor ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:144,254,596...144,258,863
Ensembl chr 3:144,254,380...144,258,903 		JBrowse link
G Prokr1 prokineticin receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:120,022,301...120,033,367
Ensembl chr 4:120,021,747...120,033,379 		JBrowse link
G Prss12 serine protease 12 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:211,624,134...211,684,126
Ensembl chr 2:211,624,134...211,684,126 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:21097842 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		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 1:95,347,065...95,354,514
Ensembl chr 1:95,347,068...95,353,613 		JBrowse link
G Pxmp4 peroxisomal membrane protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,093,371...143,110,620
Ensembl chr 3:143,093,018...143,110,651 		JBrowse link
G Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:145,735,654...145,821,102
Ensembl chr 4:145,735,654...145,821,069 		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 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G Raly RALY heterogeneous nuclear ribonucleoprotein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:143,306,039...143,370,542
Ensembl chr 3:143,306,300...143,370,539 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663 PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 1:252,683,760...252,907,465
Ensembl chr 1:252,683,771...252,886,060 		JBrowse link
G Rem1 RRAD and GEM like GTPase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:141,103,722...141,112,206
Ensembl chr 3:141,103,766...141,112,203 		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 4:77,548,724...77,554,242
Ensembl chr 4:77,548,849...77,554,257 		JBrowse link
G Rheb Ras homolog, mTORC1 binding ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
G Rnf207 ring finger protein 207 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 5:162,815,351...162,828,325
Ensembl chr 5:162,815,357...162,828,375 		JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23460944 PMID:25741868 PMID:26994242 PMID:28003660 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:11159936 PMID:15364606 PMID:15364613 PMID:16239587 PMID:16272262 More... NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291 PMID:19522081 PMID:21994374 PMID:22155597 PMID:22155598 More... NCBI chr 1:86,353,917...86,363,820
Ensembl chr 1:86,353,917...86,363,739 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:539905 PMID:545017 PMID:617273 PMID:1097384 PMID:2437023 More... RGD:1580502 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Sdc1 syndecan 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		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 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374 		JBrowse link
G Sidt1 SID1 transmembrane family, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:56,362,788...56,459,939
Ensembl chr11:56,363,512...56,459,050 		JBrowse link
G Sirt6 sirtuin 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:8,082,312...8,087,776
Ensembl chr 7:8,082,364...8,098,914 		JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697 		JBrowse link
G Slmap sarcolemma associated protein ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr16:1,667,205...1,785,200
Ensembl chr16:1,667,208...1,785,149 		JBrowse link
G Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,548,693...10,580,334
Ensembl chr 4:10,548,751...10,580,326 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25640679 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		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 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		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 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		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 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO DNA:missense mutation:275A>G (human)
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval		 ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591664 PMID:19684871 More... RGD:6771370 NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		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 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:9536098 PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458 		JBrowse link
G Syk spleen associated tyrosine kinase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590 		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 1:160,095,108...160,096,401
Ensembl chr 1:160,095,108...160,096,376 		JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26636822 More... NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
G Tdrd6 tudor domain containing 6 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:17,344,033...17,359,348
Ensembl chr 9:17,344,026...17,359,344 		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 chr14:24,732,241...24,805,272
Ensembl chr14:24,732,241...24,805,272 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		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 9:45,320,975...45,371,329
Ensembl chr 9:45,320,930...45,371,311 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Tlnrd1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359 		JBrowse link
G Tmem176a transmembrane protein 176A ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,774,940...77,778,620
Ensembl chr 4:77,774,843...77,778,620 		JBrowse link
G Tmem176b transmembrane protein 176B ISO ClinVar Annotator: match by term: Congenital long QT syndrome
ClinVar Annotator: match by term: Long QT syndrome		 ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:77,766,928...77,774,740
Ensembl chr 4:77,766,928...77,774,384 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25343256 PMID:25741868 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Tmub1 transmembrane and ubiquitin-like domain containing 1 ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,729,494...10,732,060
Ensembl chr 4:10,729,250...10,732,060 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22464770 PMID:24503780 PMID:25524337 PMID:25741868 PMID:26440512 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		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 3:143,881,427...143,890,104
Ensembl chr 3:143,882,021...143,890,097 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Trhde thyrotropin-releasing hormone degrading enzyme ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:49,943,271...50,350,613
Ensembl chr 7:49,945,766...50,367,371 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		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 3:144,122,003...144,192,986
Ensembl chr 3:144,122,003...144,192,986 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 PMID:26046366 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
G Trpm5 transient receptor potential cation channel, subfamily M, member 5 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:198,254,956...198,277,824
Ensembl chr 1:198,255,723...198,277,654 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:198,190,128...198,204,447
Ensembl chr 1:198,190,164...198,204,445 		JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 1:198,251,986...198,254,810
Ensembl chr 1:198,235,487...198,254,980 		JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		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 5:151,635,825...151,743,931
Ensembl chr 5:151,635,868...151,743,784 		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 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		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 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
G Upp1 uridine phosphorylase 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606 		JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869 		JBrowse link
G Wdr25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:127,807,347...127,939,795
Ensembl chr 6:127,807,421...127,938,929 		JBrowse link
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr13:92,930,282...92,972,061
Ensembl chr13:92,930,285...92,977,295 		JBrowse link
G Wdr86 WD repeat domain 86 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 4:10,423,496...10,443,473
Ensembl chr 4:10,424,008...10,441,465 		JBrowse link
G Wwc2 WW and C2 domain containing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:44,258,372...44,421,815
Ensembl chr16:44,258,372...44,421,812 		JBrowse link
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		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 4:77,557,037...77,575,296
Ensembl chr 4:77,548,847...77,575,296 		JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995 		JBrowse link
Andersen-Tawil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Periodic paralysis, potassium-sensitive cardiodysrhythmic type | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ClinVar PMID:20560207 PMID:21311022 PMID:22203740 PMID:24574546 PMID:25417227 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		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 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2		 OMIM
CTD
ClinVar		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		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
ISS		 OMIM:220400 | OMIM:612347
ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome
DNA:mutation:splice junction:G477+1A(human)
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:9328483 PMID:9354783 PMID:9354802 PMID:9445165 PMID:10400998 More... RGD:1580499, RGD:12910698 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO
ISS		 ClinVar Annotator: match by term: Deafness, congenital, and functional heart disease | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome
OMIM:220400 | OMIM:612347
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:234515 PMID:1346223 PMID:1467812 PMID:1984130 PMID:2294929 More... RGD:1580508 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
long QT syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24076290 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:9536098 PMID:11569915 PMID:17576681 PMID:23388215 PMID:24563457 More... NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136 PMID:19279339 PMID:20716751 PMID:21606390 PMID:21606396 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:260666 PMID:680268 PMID:1100946 PMID:1813917 PMID:2581653 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISS
ISO		 OMIM:192500
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 MouseDO
ClinVar
OMIM		 PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:19684871 PMID:20009079 PMID:22584458 PMID:23834499 PMID:23861362 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
Long QT Syndrome 1/2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:10086971 PMID:10973849 PMID:16199547 PMID:16922724 PMID:19862833 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic ClinVar PMID:8528244 PMID:10086971 PMID:10376919 PMID:10973849 PMID:12702160 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		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 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		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 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		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 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		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 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 10		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17592081 PMID:20226894 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		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 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		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 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
long QT syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: AKAP9-related condition | ClinVar Annotator: match by term: Long QT syndrome 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18093912 PMID:22378279 PMID:23174487 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
long QT syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18591664 PMID:19684871 PMID:20009079 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
long QT syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Long QT syndrome 13 OMIM
ClinVar		 PMID:20560207 PMID:24574546 PMID:25417227 PMID:25741868 PMID:26350513 More... NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
long QT syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 14 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23040497 PMID:23388215 PMID:24076290 More... NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
long QT syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 15 OMIM
ClinVar		 PMID:11569915 PMID:23388215 PMID:24917665 PMID:25741868 PMID:26164367 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
long QT syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23388215 PMID:24563457 PMID:24816216 More... NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		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 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:15280551 NCBI chr 7:121,335,048...121,345,517
Ensembl chr 7:121,335,042...121,340,308 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:25741868 PMID:26230511 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:9536098 PMID:9570196 PMID:9654228 PMID:10477533 PMID:10973849 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar PMID:18378609 PMID:21321465 PMID:22581653 PMID:22685113 PMID:25741868 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2 ClinVar NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		JBrowse link
Long QT Syndrome 2/3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic ClinVar PMID:16922724 PMID:22581653 PMID:22685113 PMID:23396983 PMID:23861362 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
Long QT Syndrome 2/5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:8899564 PMID:9445165 PMID:10807545 PMID:12402336 PMID:14661677 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic ClinVar PMID:10973849 PMID:11854117 PMID:15051636 PMID:22581653 PMID:24204727 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 3
OMIM:603830
DNA:mutations:cds:		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:235469 PMID:256650 PMID:291807 PMID:461398 PMID:1097384 More... RGD:13831293 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		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 chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic ClinVar PMID:9495298 PMID:9506831 PMID:10200053 PMID:10508990 PMID:10618304 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
long QT syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 ClinVar PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 PMID:18782775 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
long QT syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		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 chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10219239 PMID:10220144 PMID:10973849 PMID:10984545 PMID:11034315 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045 		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 chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Long QT syndrome 6 ClinVar PMID:21626672 PMID:25640679 PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002 		JBrowse link
long QT syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long qt syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
long QT syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 PMID:11251997 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic ClinVar PMID:14661677 PMID:15840476 PMID:17060380 PMID:19716085 PMID:19862833 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Long QT syndrome 9 ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
Romano-Ward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:14672715 PMID:15318349 PMID:17556197 PMID:24033266 PMID:25741868 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar
RGD		 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... RGD:1580499 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval		 ClinVar PMID:260666 PMID:680268 PMID:1100946 PMID:1813917 PMID:2581653 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,834...96,071,397
Ensembl chr10:96,060,821...96,071,445 		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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:234416 PMID:234478 PMID:234515 PMID:280141 PMID:737968 More... RGD:1580509 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:17556197 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		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 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:2437023 PMID:7889574 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:28837624 PMID:30847666 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709 		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
ISS		 DNA:missense mutations:exon:p.G406R, p.G402S (human)
ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1
OMIM:601005
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 More... RGD:1580173 NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      long QT syndrome 296
        Andersen-Tawil syndrome 2
        Jervell-Lange Nielsen syndrome + 2
        Long QT Syndrome 1/2 2
        Long QT Syndrome 2/3 2
        Long QT Syndrome 2/5 2
        Long QT Syndrome 3/6 2
        Romano-Ward Syndrome 14
        Timothy syndrome 1
        long QT syndrome 1 24
        long QT syndrome 10 + 38
        long QT syndrome 11 1
        long QT syndrome 12 1
        long QT syndrome 13 1
        long QT syndrome 14 1
        long QT syndrome 15 1
        long QT syndrome 16 1
        long QT syndrome 2 7
        long QT syndrome 3 1
        long QT syndrome 4 1
        long QT syndrome 5 1
        long QT syndrome 6 6
        long QT syndrome 8 1
        long QT syndrome 9 4
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      respiratory system disease 5220
        thoracic disease 4025
          heart disease 3447
            cardiomyopathy 1409
              intrinsic cardiomyopathy 1001
                long QT syndrome 296
                  Andersen-Tawil syndrome 2
                  Jervell-Lange Nielsen syndrome + 2
                  Long QT Syndrome 1/2 2
                  Long QT Syndrome 2/3 2
                  Long QT Syndrome 2/5 2
                  Long QT Syndrome 3/6 2
                  Romano-Ward Syndrome 14
                  Timothy syndrome 1
                  long QT syndrome 1 24
                  long QT syndrome 10 + 38
                  long QT syndrome 11 1
                  long QT syndrome 12 1
                  long QT syndrome 13 1
                  long QT syndrome 14 1
                  long QT syndrome 15 1
                  long QT syndrome 16 1
                  long QT syndrome 2 7
                  long QT syndrome 3 1
                  long QT syndrome 4 1
                  long QT syndrome 5 1
                  long QT syndrome 6 6
                  long QT syndrome 8 1
                  long QT syndrome 9 4
paths to the root