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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal EKG
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Accession:HP:0003115 term browser browse the term
Definition:Abnormal rhythm of the heart.
Synonyms:exact_synonym: Abnormal ECG;   Abnormal electrocardiogram;   EKG abnormality
 xref: SNOMEDCT_US:102594003;   UMLS:C0522055



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Abnormal EKG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del RGD PMID:7555560 PMID:23170137 RGD:7829785, RGD:7829797 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO PMID:30808312 MIM:158810 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
JBrowse link
G DBH dopamine beta-hydroxylase IAGP HPO ORPHA:230 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
JBrowse link
G DES desmin IAGP DNA:mutation:cds:c.1203G>C (p.E401D)(human) RGD PMID:29212896 RGD:13525009 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G DMD dystrophin IAGP HPO MIM:300376 MIM:310200 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DSC3 desmocollin 3 IAGP HPO PMID:19765682 MIM:613102 NCBI chr18:30,989,365...31,042,742
Ensembl chr18:30,989,365...31,042,815
JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G FXN frataxin IAGP HPO MIM:229300 ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Graves Disease;DNA:polymorphism:cds:HLA-B15 RGD PMID:8894996 RGD:7365110 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility IAGP DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) RGD PMID:17893005 RGD:7207049 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Kidney Failure, Chronic;DNA:transition:cds:g.677C>T (rs1801133) RGD PMID:19272686 RGD:6893548 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MYH7 myosin heavy chain 7 IAGP DNA:missense mutation:exon:p.R281T (c.842G>C) RGD PMID:18159245 RGD:11098258 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 IAGP DNA:SNP:intron: (rs6080699) RGD PMID:20036365 RGD:6483554 NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
JBrowse link
G PLAU plasminogen activator, urokinase IAGP DNA:SNP:3' utr:c.*141C>T (rs4065) RGD PMID:20518747 RGD:6484126 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP DNA:missense mutation:cds:p.R643G RGD PMID:15488875 RGD:6771224 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143
JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG RGD PMID:12477941 RGD:1626626 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578
JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
Abnormal P wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
Abnormal PR interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:19648063 RGD:8142351 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO PMID:28219978 MIM:619464 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G ITGA9 integrin subunit alpha 9 IAGP DNA:SNP: :rs267567(human) RGD PMID:23139255 RGD:13602006 NCBI chr 3:37,452,141...37,823,507
Ensembl chr 3:37,452,115...37,823,507
JBrowse link
Abnormal QRS complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP HPO PMID:21131953 MIM:614896 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO PMID:28219978 MIM:619464 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
Abnormal QT interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNB2 G protein subunit beta 2 IAGP HPO PMID:28219978 MIM:619464 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO PMID:25145518 MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
Abnormal ST segment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO PMID:24777450 MIM:615916 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO PMID:16651346 MIM:612422 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
Abnormal T-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 IAGP HPO ORPHA:101016 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ANK2 ankyrin 2 IAGP HPO ORPHA:101016 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:2131 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO ORPHA:101016 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CALM1 calmodulin 1 IAGP HPO ORPHA:101016 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CALM2 calmodulin 2 IAGP HPO ORPHA:101016 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
JBrowse link
G CALM3 calmodulin 3 IAGP HPO ORPHA:101016 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:101016 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO MIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO ORPHA:101016 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO ORPHA:101016 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO ORPHA:101016 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:101016 ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO ORPHA:101016 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:312750 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO ORPHA:101016 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:101016 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO ORPHA:101016 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:101016 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP HPO ORPHA:101016 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:101016 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TRDN triadin IAGP HPO ORPHA:101016 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
JBrowse link
Abnormal U wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP HPO PMID:17060380 MIM:611818 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
Absent P wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMD emerin IAGP HPO PMID:29250285 MIM:310300 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574
JBrowse link
G NKX2-6 NK2 homeobox 6 susceptibility IAGP DNA:missense mutation:CDS:p.Q175H RGD PMID:25319568 RGD:155882443 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756
JBrowse link
G NPPA natriuretic peptide A IAGP HPO PMID:23275345 MIM:615745 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO PMID:14523039 MIM:608567 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
Decreased QRS voltage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
Epsilon wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG2 desmoglein 2 IAGP HPO PMID:16505173 MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G PKP2 plakophilin 2 IAGP HPO PMID:15489853 PMID:16549640 MIM:609040 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
JBrowse link
Increased QRS voltage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO PMID:15253947 MIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365
JBrowse link
G SVIL supervillin IAGP HPO PMID:32779703 MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
JBrowse link
J wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO PMID:17224476 MIM:611875 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
Left axis deviation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLXND1 plexin D1 IAGP HPO PMID:35396997 MIM:620294 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:15877279 MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO PMID:16651346 MIM:612422 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
Notched T wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO PMID:34357002 MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO PMID:34357002 MIM:613688 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
Prolonged P wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA5 gap junction protein alpha 5 IAGP HPO PMID:23348765 MIM:614049 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO PMID:21051419 MIM:613120 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
Prolonged PR interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:19648063 RGD:8142351 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G DSG2 desmoglein 2 IAGP HPO PMID:16505173 MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G GNB5 G protein subunit beta 5 IAGP HPO ORPHA:542306 NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP HPO PMID:11839626 MIM:611777 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO PMID:23264583 MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO MIM:108900 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP HPO PMID:19808477 MIM:615378 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO PMID:10471492 MIM:113900 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SLC8A1 solute carrier family 8 member A1 IAGP DNA:SNP: :rs4952632 RGD PMID:25055868 RGD:13605622 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
Prolonged QRS complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP DNA:mutation:cds:R206H RGD PMID:32727600 RGD:329337363 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
G GJA5 gap junction protein alpha 5 IAGP HPO PMID:23348765 MIM:614049 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
JBrowse link
G IRX5 iroquois homeobox 5 IAGP HPO PMID:22581230 PMID:34899143 MIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G JUP junction plakoglobin IAGP HPO PMID:11691526 PMID:17924338 MIM:601214 MIM:611528 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G PKP2 plakophilin 2 IAGP HPO PMID:16549640 MIM:609040 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:11371514 PMID:11407343 PMID:15877279 MIM:194200 MIM:261740 MIM:600858 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO PMID:18313022 MIM:604400 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
Prolonged QT interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB8 ATP binding cassette subfamily B member 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,028,450...151,047,782
Ensembl chr 7:151,028,422...151,047,782
JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Prolonged QT interval ClinVar NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G ABCF1 ATP binding cassette subfamily F member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:30,571,442...30,591,522
Ensembl chr 6:30,571,393...30,597,179
JBrowse link
G ABCF2 ATP binding cassette subfamily F member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,211,484...151,227,205
Ensembl chr 7:151,211,484...151,227,205
JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,874,989...34,927,959
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G ACTL10 actin like 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,666,943...33,668,525
Ensembl chr20:33,666,943...33,668,525
JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:27532257 PMID:28492532 PMID:29247119 PMID:31983221 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
JBrowse link
G AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,085,867...151,144,434
Ensembl chr 7:151,085,831...151,144,436
JBrowse link
G AHCY adenosylhomocysteinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
JBrowse link
G AKAP8 A-kinase anchoring protein 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:15,353,385...15,379,787
Ensembl chr19:15,353,385...15,379,815
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18093912 PMID:21885989 More... NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO PMID:34357002 MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
JBrowse link
G ALPK3 alpha kinase 3 IAGP HPO PMID:27106955 MIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Prolong qt interval on ekg
ClinVar
HPO
PMID:9536098 PMID:11334825 PMID:12571597 PMID:15075330 PMID:15178757 More... MIM:600919 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087
JBrowse link
G ANKRD31 ankyrin repeat domain 31 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:75,068,297...75,236,878
Ensembl chr 5:75,068,275...75,236,911
JBrowse link
G AOC1 amine oxidase copper containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,852,120...150,861,504
Ensembl chr 7:150,824,627...150,861,504
JBrowse link
G ARHGAP22 Rho GTPase activating protein 22 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:48,429,831...48,656,265
Ensembl chr10:48,446,036...48,656,265
JBrowse link
G ARL13B ARF like GTPase 13B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101
JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G ASB10 ankyrin repeat and SOCS box containing 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,175,698...151,187,792
Ensembl chr 7:151,175,698...151,187,832
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588
JBrowse link
G ASIC3 acid sensing ion channel subunit 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,048,292...151,052,756
Ensembl chr 7:151,048,292...151,052,756
JBrowse link
G ASIP agouti signaling protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G ATG9B autophagy related 9B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,012,209...151,024,499
Ensembl chr 7:151,012,209...151,024,499
JBrowse link
G ATL3 atlastin GTPase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:63,624,087...63,671,974
Ensembl chr11:63,624,087...63,671,921
JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25617006 PMID:26512958 PMID:28492532 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
JBrowse link
G BAIAP3 BAI1 associated protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:1,333,645...1,349,439
Ensembl chr16:1,333,638...1,349,439
JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019
JBrowse link
G C11orf21 chromosome 11 open reading frame 21 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049
JBrowse link
G C20orf144 chromosome 20 open reading frame 144 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,662,327...33,663,908
Ensembl chr20:33,662,327...33,665,619
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:9536098 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 More... MIM:601005 MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:20031608 PMID:20817017 PMID:22581653 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,668,500...2,812,944
JBrowse link
G CACNA1C-AS2 CACNA1C antisense RNA 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr12:2,668,500...2,672,220
Ensembl chr12:2,668,500...2,672,220
JBrowse link
G CACNA1C-AS4 CACNA1C antisense RNA 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,220,537...2,223,481
Ensembl chr12:2,219,485...2,223,479
JBrowse link
G CACNA1C-IT3 CACNA1C intronic transcript 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,269,776...2,288,745
Ensembl chr12:2,269,700...2,303,577
JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:1,791,963...1,918,652
Ensembl chr12:1,791,963...1,918,666
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:20817017 PMID:22840528 PMID:23414114 PMID:23861362 PMID:24033266 More... NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CALM1 calmodulin 1 IAGP ClinVar Annotator: match by term: Long QT syndrome HPO
ClinVar
PMID:25741868 PMID:25741871 PMID:39481677 MIM:616247 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CALM2 calmodulin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24917665 PMID:27100291 PMID:27114410 PMID:27165696 PMID:27516456 More... NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992
JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12386154 PMID:20301466 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:1146501 PMID:2705900 PMID:09536092 PMID:9536098 PMID:09537420 More... MIM:611818 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO MIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256
JBrowse link
G CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,490,096...33,650,030
Ensembl chr20:33,490,075...33,650,036
JBrowse link
G CCN3 cellular communication network factor 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:119,416,446...119,424,434
Ensembl chr 8:119,416,446...119,424,434
JBrowse link
G CD276 CD276 molecule IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:73,683,944...73,714,514
Ensembl chr15:73,683,966...73,714,514
JBrowse link
G CD81 CD81 molecule IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
JBrowse link
G CDK5 cyclin dependent kinase 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620
JBrowse link
G CHMP4B charged multivesicular body protein 4B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,811,348...33,854,366
Ensembl chr20:33,811,348...33,854,366
JBrowse link
G CHPF2 chondroitin polymerizing factor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,232,483...151,238,822
Ensembl chr 7:151,232,483...151,240,979
JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
JBrowse link
G CRYGN crystallin gamma N IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,428,832...151,440,813
Ensembl chr 7:151,428,832...151,440,813
JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28790153 PMID:29255176 More... NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28416588 PMID:28492532 NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637
JBrowse link
G CTRL chymotrypsin like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:67,929,574...67,931,862
Ensembl chr16:67,927,640...67,932,365
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
JBrowse link
G CYP51A1-AS1 CYP51A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,563...92,180,725
JBrowse link
G DCP1B decapping mRNA 1B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:1,941,591...2,004,457
Ensembl chr12:1,946,053...2,004,535
JBrowse link
G DIP2A disco interacting protein 2 homolog A IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:46,458,891...46,583,871
Ensembl chr21:46,458,891...46,572,743
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:18583217 PMID:24033266 PMID:24690944 PMID:25741868 PMID:26467025 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO PMID:16055927 MIM:610198 ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:86309 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24832006 PMID:25741868 PMID:28492532 PMID:30371277 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351
JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948
JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:16467215 PMID:16774985 PMID:17576681 PMID:18382419 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DYNLRB1 dynein light chain roadblock-type 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,515,602...34,540,958
Ensembl chr20:34,516,395...34,540,958
JBrowse link
G E2F1 E2F transcription factor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,115,364...35,147,336
Ensembl chr20:35,115,364...35,147,336
JBrowse link
G EIF2S2 eukaryotic translation initiation factor 2 subunit beta IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,088,309...34,112,243
Ensembl chr20:34,088,309...34,112,243
JBrowse link
G ELMOD2 ELMO domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:140,524,168...140,553,770
Ensembl chr 4:140,524,168...140,553,770
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FASTK Fas activated serine/threonine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,076,624...151,080,809
Ensembl chr 7:151,076,624...151,080,866
JBrowse link
G FGF2 fibroblast growth factor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
JBrowse link
G FSIP2 fibrous sheath interacting protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:185,737,134...185,833,290
Ensembl chr 2:185,738,804...185,833,290
JBrowse link
G FSIP2-AS1 FSIP2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:185,783,691...185,800,151
Ensembl chr 2:185,653,303...185,864,985
JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:152,025,674...152,122,340
Ensembl chr 7:152,025,674...152,122,340
JBrowse link
G GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:151,956,446...152,019,929
Ensembl chr 7:151,956,379...152,019,929
JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075
JBrowse link
G GBX1 gastrulation brain homeobox 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,148,009...151,167,694
Ensembl chr 7:151,148,009...151,174,745
JBrowse link
G GGT7 gamma-glutamyltransferase 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,844,720...34,872,856
Ensembl chr20:34,844,720...34,872,856
JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr17:63,917,193...63,958,852 JBrowse link
G GIMAP1 GTPase, IMAP family member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,716,613...150,724,284
Ensembl chr 7:150,716,606...150,724,284
JBrowse link
G GIMAP2 GTPase, IMAP family member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,685,706...150,693,641
Ensembl chr 7:150,685,697...150,693,641
JBrowse link
G GIMAP4 GTPase, IMAP family member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 7:150,567,390...150,573,953
Ensembl chr 7:150,567,369...150,573,953
JBrowse link
G GIMAP5 GTPase, IMAP family member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,737,418...150,743,646
Ensembl chr 7:150,722,253...150,750,033
JBrowse link
G GIMAP6 GTPase, IMAP family member 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,625,375...150,632,385
Ensembl chr 7:150,625,375...150,632,648
JBrowse link
G GIMAP7 GTPase, IMAP family member 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 7:150,514,872...150,521,073
Ensembl chr 7:150,514,872...150,521,073
JBrowse link
G GIMAP8 GTPase, IMAP family member 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 7:150,450,630...150,479,393
Ensembl chr 7:150,450,630...150,479,393
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO PMID:23768512 MIM:615351 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100
JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11839626 PMID:15140536 PMID:17967976 PMID:17967977 PMID:19606473 More... NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G GSS glutathione synthetase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027
JBrowse link
G GUF1 GTP binding elongation factor GUF1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G HK3 hexokinase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 5:176,880,869...176,899,346
Ensembl chr 5:176,880,869...176,899,346
JBrowse link
G HKDC1 hexokinase domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:69,220,332...69,267,552
Ensembl chr10:69,220,332...69,267,552
JBrowse link
G HNRNPM heterogeneous nuclear ribonucleoprotein M IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:8,444,975...8,489,114
Ensembl chr19:8,444,767...8,489,114
JBrowse link
G IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402
JBrowse link
G ILK integrin linked kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874
JBrowse link
G INTS8 integrator complex subunit 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
JBrowse link
G JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO PMID:21349352 MIM:616399 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:1939241 PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 More... MIM:612347 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12402336 More... MIM:613693 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Prolonged QT interval
ClinVar
HPO
PMID:255267 PMID:260666 PMID:543451 PMID:680268 PMID:805146 More... MIM:613688 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:15922306 PMID:17581963 PMID:19041665 PMID:19111761 PMID:21875779 More... MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:9536098 PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 More... ORPHA:251274 ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G KCNJ8-AS1 KCNJ8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:25998140 PMID:28492532 PMID:28750076 NCBI chr12:21,662,313...21,829,261 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Prolonged QT interval
ClinVar
HPO
PMID:234416 PMID:234478 PMID:234493 PMID:234515 PMID:234518 More... MIM:192500 MIM:220400 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9323054 PMID:9536098 PMID:9799083 PMID:10024302 PMID:10807545 More... NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,871,662
JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:234493 PMID:280145 PMID:738035 PMID:752693 PMID:9323054 More... NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003
JBrowse link
G KIF11 kinesin family member 11 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
JBrowse link
G KIF21B kinesin family member 21B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:200,969,390...201,023,714
Ensembl chr 1:200,969,390...201,023,714
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939
JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072
JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:10580070 PMID:11102973 PMID:12920062 PMID:17334235 PMID:18414213 More... MIM:151660 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC105372791 uncharacterized LOC105372791 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:11468227 PMID:12402336 More... NCBI chr21:34,353,006...34,375,362 JBrowse link
G LOC109113863 FGF2 promoter region IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:122,825,690...122,827,153 JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16453024 PMID:19716085 PMID:20110800 PMID:22581653 PMID:24033266 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121275 VISTA enhancer hs2192 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:150,962,513...150,966,344 JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,245,795...92,246,409 JBrowse link
G LOC121175350 Sharpr-MPRA regulatory region 2641 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16199547 PMID:21885989 PMID:25016126 PMID:25363768 PMID:25741868 More... NCBI chr 7:92,042,035...92,042,329 JBrowse link
G LOC124625881 Sharpr-MPRA regulatory region 515 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,198,243...2,198,537 JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12920062 PMID:17334235 PMID:18414213 PMID:18795223 PMID:18926329 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC126806067 BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 1:237,589,958...237,591,157 JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC126806426 BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:37091313 NCBI chr 2:178,614,121...178,615,320 JBrowse link
G LOC126806430 BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:26516846 PMID:27930701 PMID:28135719 PMID:28492532 More... NCBI chr 2:178,729,067...178,730,266 JBrowse link
G LOC126807136 MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:12571597 PMID:15178757 PMID:16253912 PMID:17242276 PMID:22581653 More... NCBI chr 4:113,353,775...113,354,974 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17161064 PMID:23396983 PMID:23861362 PMID:24981977 PMID:25351510 More... NCBI chr 4:113,355,404...113,356,603 JBrowse link
G LOC126860104 MED14-independent group 3 enhancer GRCh37_chr7:91888982-91890181 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,259,668...92,260,867 JBrowse link
G LOC126861356 BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar NCBI chr11:118,143,804...118,145,003 JBrowse link
G LOC126861417 MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,519,944...2,521,143 JBrowse link
G LOC126861418 BRD4-independent group 4 enhancer GRCh37_chr12:2660049-2661248 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,550,883...2,552,082 JBrowse link
G LOC126862021 CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:25741871 PMID:39481677 NCBI chr14:90,404,441...90,405,640 JBrowse link
G LOC129389824 MPRA-validated peak6634 silencer IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,137,442...92,137,642 JBrowse link
G LOC129389825 MPRA-validated peak6635 silencer IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,137,622...92,137,822 JBrowse link
G LOC129389826 MPRA-validated peak6636 silencer IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,137,842...92,138,042 JBrowse link
G LOC129998788 ATAC-STARR-seq lymphoblastoid active region 26256 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:91,941,003...91,941,152 JBrowse link
G LOC129998789 ATAC-STARR-seq lymphoblastoid silent region 18366 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:91,995,503...91,995,682 JBrowse link
G LOC129998790 ATAC-STARR-seq lymphoblastoid silent region 18367 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,158,876...92,158,925 JBrowse link
G LOC129998791 ATAC-STARR-seq lymphoblastoid silent region 18368 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,179,003...92,179,112 JBrowse link
G LOC129998792 ATAC-STARR-seq lymphoblastoid silent region 18370 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,424,727...92,424,846 JBrowse link
G LOC129998793 ATAC-STARR-seq lymphoblastoid silent region 18371 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,447,402...92,448,171 JBrowse link
G LOC129998794 ATAC-STARR-seq lymphoblastoid active region 26260 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,448,602...92,448,651 JBrowse link
G LOC129999610 ATAC-STARR-seq lymphoblastoid silent region 18785 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:150,974,456...150,974,525 JBrowse link
G LOC129999611 ATAC-STARR-seq lymphoblastoid silent region 18786 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:150,974,626...150,974,675 JBrowse link
G LOC129999612 ATAC-STARR-seq lymphoblastoid silent region 18787 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:19862833 PMID:28492532 NCBI chr 7:150,975,066...150,975,215 JBrowse link
G LOC130004408 ATAC-STARR-seq lymphoblastoid active region 3801 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:95,693,632...95,693,911 JBrowse link
G LOC130007179 ATAC-STARR-seq lymphoblastoid silent region 4128 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,152,251...2,152,470 JBrowse link
G LOC130007180 ATAC-STARR-seq lymphoblastoid active region 5814 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr12:2,387,267...2,387,376 JBrowse link
G LOC130057222 ATAC-STARR-seq lymphoblastoid silent region 6507 IAGP ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 NCBI chr15:63,048,194...63,048,853 JBrowse link
G LOC130065678 ATAC-STARR-seq lymphoblastoid active region 17731 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr20:33,438,830...33,438,879 JBrowse link
G LOC130065679 ATAC-STARR-seq lymphoblastoid silent region 12811 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,443,309...33,443,368 JBrowse link
G LOC130065680 ATAC-STARR-seq lymphoblastoid silent region 12812 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29247119 PMID:30847666 PMID:31737537 More... NCBI chr20:33,443,479...33,443,958 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:7,888,510...7,902,016
Ensembl chr19:7,888,505...7,902,021
JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MDN1 midasin AAA ATPase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:89,642,498...89,819,794
Ensembl chr 6:89,642,498...89,819,794
JBrowse link
G MIR1285-1 microRNA 1285-1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
JBrowse link
G MIR499A microRNA 499a IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,990,376...34,990,497
Ensembl chr20:34,990,376...34,990,497
JBrowse link
G MIR671 microRNA 671 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,238,421...151,238,538
Ensembl chr 7:151,238,421...151,238,538
JBrowse link
G MKI67 marker of proliferation Ki-67 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393
JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Long QT syndrome
ClinVar Annotator: match by term: Prolonged QT interval
ClinVar PMID:208206 PMID:16335287 PMID:16715312 PMID:18533079 PMID:18957093 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702
JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011
JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome
ClinVar PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:26383259 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23283745 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29255176 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437
JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11174330 PMID:20641121 PMID:21239446 PMID:22131351 PMID:23426552 More... NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689
JBrowse link
G MYLK4 myosin light chain kinase family member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:2,663,637...2,770,376
Ensembl chr 6:2,663,629...2,770,330
JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
JBrowse link
G NCOA6 nuclear receptor coactivator 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,714,774...34,825,651
Ensembl chr20:34,689,097...34,825,651
JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011
JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,657,087...33,675,348
Ensembl chr20:33,657,087...33,674,463
JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:33500567 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NLRP13 NLR family pyrin domain containing 13 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:55,891,692...55,932,336
Ensembl chr19:55,891,699...55,932,336
JBrowse link
G NLRX1 NLR family member X1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr11:119,168,334...119,184,016
Ensembl chr11:119,166,568...119,184,016
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr21:14,961,235...15,065,936
Ensembl chr21:14,961,235...15,065,936
JBrowse link
G NUB1 negative regulator of ubiquitin like proteins 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,341,812...151,378,449
Ensembl chr 7:151,341,772...151,378,449
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:1146501 PMID:2705900 PMID:9536092 PMID:9536098 PMID:09537420 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628
JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:2151 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
JBrowse link
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:81,100,875...81,220,394
Ensembl chr16:81,100,875...81,220,370
JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16567567 PMID:17521752 PMID:18662195 PMID:19533476 PMID:19569224 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
JBrowse link
G PLCB4 phospholipase C beta 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G PROCR protein C receptor IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,171,096...35,216,259
Ensembl chr20:35,172,072...35,216,240
JBrowse link
G PROKR1 prokineticin receptor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:68,643,579...68,658,251
Ensembl chr 2:68,643,579...68,658,251
JBrowse link
G PRSS12 serine protease 12 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:118,280,038...118,353,003
Ensembl chr 4:118,280,038...118,353,003
JBrowse link
G PRSS57 serine protease 57 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:685,546...695,452
Ensembl chr19:685,546...695,498
JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:49,850,705...49,860,742
Ensembl chr19:49,850,735...49,860,744
JBrowse link
G PTOV1-AS2 PTOV1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:49,856,465...49,859,289
Ensembl chr19:49,856,970...49,859,289
JBrowse link
G PXMP4 peroxisomal membrane protein 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,702,758...33,720,310
Ensembl chr20:33,702,758...33,720,319
JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304
JBrowse link
G RALY RALY heterogeneous nuclear ribonucleoprotein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:33,993,911...34,084,884
Ensembl chr20:33,993,646...34,108,308
JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22004663 PMID:23396983 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471
JBrowse link
G REM1 RRAD and GEM like GTPase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:31,475,288...31,484,895
Ensembl chr20:31,475,288...31,484,895
JBrowse link
G REPIN1 replication initiator 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 7:150,368,096...150,374,039
Ensembl chr 7:150,368,189...150,374,044
JBrowse link
G RHEB Ras homolog, mTORC1 binding IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,466,012...151,519,895
Ensembl chr 7:151,466,012...151,520,120
JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:71,886,550...72,403,145
Ensembl chr 6:71,886,550...72,403,150
JBrowse link
G RNF207 ring finger protein 207 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 NCBI chr 1:6,206,119...6,221,299
Ensembl chr 1:6,205,475...6,221,299
JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602
JBrowse link
G RTEL1-TNFRSF6B RTEL1-TNFRSF6B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr20:63,657,810...63,698,698
Ensembl chr20:63,659,300...63,698,684
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:23460944 PMID:25741868 PMID:26994242 PMID:28003660 PMID:28492532 More... ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:11159936 PMID:15364606 PMID:15364613 PMID:16239587 PMID:16272262 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:15671291 PMID:19522081 PMID:21994374 PMID:22155597 PMID:22155598 More... NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:17592081 PMID:23861362 PMID:28492532 MIM:611819 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:617273 PMID:1097384 PMID:2437023 PMID:7651517 PMID:7889574 More... MIM:608567 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SDC1 syndecan 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
JBrowse link
G SIDT1 SID1 transmembrane family member 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:113,532,555...113,637,111
Ensembl chr 3:113,532,555...113,629,714
JBrowse link
G SIRT6 sirtuin 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr19:4,174,109...4,182,563
Ensembl chr19:4,174,109...4,182,566
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO PMID:28003083 MIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G SLC2A5 solute carrier family 2 member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:9,035,106...9,094,195
Ensembl chr 1:9,035,106...9,088,478
JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526
JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO PMID:34050321 MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588
JBrowse link
G SLMAP sarcolemma associated protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
JBrowse link
G SMARCD3 SWI/SNF related BAF chromatin remodeling complex subunit D3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,238,780...151,277,149
Ensembl chr 7:151,238,764...151,277,896
JBrowse link
G SMIM11 small integral membrane protein 11 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25640679 PMID:28492532 NCBI chr21:34,375,507...34,389,151
Ensembl chr21:34,375,480...34,416,961
JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780
JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:127,652,194...128,092,593
Ensembl chr 7:127,652,194...128,092,609
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591664 PMID:19684871 More... NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053
JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040
JBrowse link
G STK32B serine/threonine kinase 32B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:5,019,386...5,500,989
Ensembl chr 4:5,051,480...5,500,994
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
G SYK spleen associated tyrosine kinase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
JBrowse link
G TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011
JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26636822 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554
JBrowse link
G TCTN3 tectonic family member 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G TDRD6 tudor domain containing 6 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 6:46,680,268...46,704,319
Ensembl chr 6:46,687,875...46,704,319
JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:25741868 PMID:27861123 PMID:30790670 MIM:614021 NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468
JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBRAP1 transforming growth factor beta receptor associated protein 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 2:105,249,404...105,329,735
Ensembl chr 2:105,264,391...105,329,735
JBrowse link
G THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791
JBrowse link
G TLNRD1 talin rod domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr15:81,000,923...81,005,788
Ensembl chr15:81,000,923...81,005,788
JBrowse link
G TMEM176A transmembrane protein 176A IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,800,769...150,805,118
Ensembl chr 7:150,800,403...150,805,118
JBrowse link
G TMEM176B transmembrane protein 176B IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:150,791,301...150,801,360
Ensembl chr 7:150,791,285...150,801,360
JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:25343256 PMID:25741868 PMID:28492532 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351
JBrowse link
G TMUB1 transmembrane and ubiquitin like domain containing 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,081,085...151,083,493
Ensembl chr 7:151,081,085...151,083,493
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684
JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:22464770 PMID:24503780 PMID:25524337 PMID:25741868 PMID:26440512 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO PMID:11684629 MIM:601494 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764
JBrowse link
G TOP2A DNA topoisomerase II alpha IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP53INP2 tumor protein p53 inducible nuclear protein 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:34,704,344...34,713,436
Ensembl chr20:34,704,339...34,713,439
JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915
JBrowse link
G TPM1-AS TPM1 antisense RNA IAGP ClinVar Annotator: match by term: Prolonged QT interval ClinVar PMID:24033266 PMID:25741868 NCBI chr15:63,046,034...63,049,387
Ensembl chr15:62,971,190...63,049,387
JBrowse link
G TRDN triadin IAGP HPO PMID:22422768 MIM:615441 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
JBrowse link
G TRHDE thyrotropin releasing hormone degrading enzyme IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr12:72,087,266...72,670,758
Ensembl chr12:72,087,266...72,670,758
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
JBrowse link
G TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr20:35,002,404...35,092,807
Ensembl chr20:35,002,404...35,092,807
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar
HPO
PMID:19726882 PMID:21887725 PMID:23382873 PMID:25416190 PMID:25741868 More... MIM:604559 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514
JBrowse link
G TSPAN32 tetraspanin 32 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204
JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878
JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:17344846 PMID:23861362 PMID:24033266 PMID:25145518 PMID:25741868 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:19,074,510...19,210,266
Ensembl chr 1:19,074,510...19,210,266
JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215
JBrowse link
G UPP1 uridine phosphorylase 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:48,088,704...48,108,736
Ensembl chr 7:48,088,628...48,108,736
JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 3:49,108,050...49,120,823
Ensembl chr 3:49,108,046...49,120,938
JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363
JBrowse link
G VSX1 visual system homeobox 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141
JBrowse link
G WDR25 WD repeat domain 25 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr14:100,376,485...100,530,303
Ensembl chr14:100,376,418...100,530,303
JBrowse link
G WDR26 WD repeat domain 26 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
JBrowse link
G WDR86 WD repeat domain 86 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:10973849 PMID:16470702 PMID:18348270 PMID:19443486 PMID:19862833 More... NCBI chr 7:151,368,955...151,410,712
Ensembl chr 7:151,375,909...151,410,727
JBrowse link
G WWC2 WW and C2 domain containing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 4:183,099,257...183,320,777
Ensembl chr 4:183,099,257...183,320,777
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:28492532 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,088...27,155,266
JBrowse link
G ZNF174 zinc finger protein 174 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr16:3,401,215...3,409,364
Ensembl chr16:3,401,215...3,409,364
JBrowse link
G ZNF341 zinc finger protein 341 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
JBrowse link
G ZNF341-AS1 ZNF341 antisense RNA 1 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 PMID:28492532 NCBI chr20:33,787,373...33,811,099
Ensembl chr20:33,787,373...33,812,321
JBrowse link
G ZNF775 zinc finger protein 775 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:16470702 PMID:18348270 PMID:19443486 PMID:25606385 PMID:28492532 NCBI chr 7:150,379,330...150,398,630
Ensembl chr 7:150,368,790...150,398,630
JBrowse link
G ZNF862 zinc finger protein 862 IAGP ClinVar Annotator: match by term: Long QT syndrome ClinVar PMID:26132555 NCBI chr 7:149,838,375...149,867,479
Ensembl chr 7:149,838,375...149,867,479
JBrowse link
Prolonged QTc interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO ORPHA:3449 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
JBrowse link
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP HPO ORPHA:3449 NCBI chr15:99,971,437...100,341,975
Ensembl chr15:99,971,437...100,342,005
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP HPO PMID:18093912 MIM:611820 ORPHA:101016 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B IAGP HPO PMID:34901807 MIM:613688 NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721
JBrowse link
G ANK2 ankyrin 2 IAGP HPO ORPHA:101016 NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO PMID:23677916 PMID:24728418 MIM:618447 ORPHA:101016 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CALM1 calmodulin 1 IAGP HPO PMID:23388215 PMID:27374306 MIM:616247 ORPHA:101016 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CALM2 calmodulin 2 IAGP HPO PMID:23388215 PMID:24917665 MIM:616249 ORPHA:101016 NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
JBrowse link
G CALM3 calmodulin 3 IAGP HPO PMID:25460178 MIM:618782 ORPHA:101016 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:101016 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:3449 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FLNC filamin C IAGP HPO PMID:25351925 MIM:617047 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO PMID:15123648 PMID:17646576 MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP HPO PMID:23264583 MIM:612240 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP HPO PMID:9354802 PMID:20823649 MIM:613695 ORPHA:101016 ORPHA:90647 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214
JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP HPO PMID:10219239 MIM:613693 ORPHA:101016 NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO PMID:34901807 MIM:613688 ORPHA:101016 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO PMID:15922306 PMID:35174115 MIM:170390 MIM:613980 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO PMID:20560207 MIM:613485 ORPHA:101016 ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO PMID:9020846 PMID:12522251 PMID:26344792 PMID:30008122 MIM:192500 MIM:220400 MIM:607554 ORPHA:101016 ORPHA:90647 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO ORPHA:3449 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO MIM:312750 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO ORPHA:101016 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Prolonged QTc interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:101016 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO ORPHA:101016 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO PMID:11410597 PMID:15184283 MIM:603830 ORPHA:101016 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SNTA1 syntrophin alpha 1 IAGP HPO PMID:18591664 MIM:612955 ORPHA:101016 NCBI chr20:33,407,957...33,443,763
Ensembl chr20:33,407,957...33,443,763
JBrowse link
G SVIL supervillin IAGP HPO PMID:32779703 MIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959
JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO PMID:26805781 PMID:26805782 MIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:101016 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
JBrowse link
G TECRL trans-2,3-enoyl-CoA reductase like IAGP HPO PMID:30790670 MIM:614021 NCBI chr 4:64,276,298...64,409,460
Ensembl chr 4:64,275,257...64,409,468
JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP HPO MIM:616117 NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428
JBrowse link
G TRDN triadin IAGP HPO ORPHA:101016 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
JBrowse link
Prominent U wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
Right axis deviation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAA alpha glucosidase IAGP HPO PMID:35386406 MIM:232300 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO PMID:17372140 MIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
Shortened PR interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G DOHH deoxyhypusine hydroxylase IAGP HPO PMID:35858628 MIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674
JBrowse link
G GAA alpha glucosidase IAGP HPO MIM:232300 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase IAGP HPO PMID:21907147 MIM:614947 NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:11407343 PMID:15673802 PMID:15877279 MIM:194200 MIM:261740 MIM:600858 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO MIM:604559 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
Shortened QT interval term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO PMID:17224476 MIM:611875 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:51083 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP HPO PMID:17224476 MIM:611876 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP HPO PMID:14676148 MIM:609620 ORPHA:51083 NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO PMID:15761194 PMID:22155372 PMID:23440193 MIM:609622 ORPHA:51083 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO PMID:15890322 MIM:609621 ORPHA:51083 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G SLC4A3 solute carrier family 4 member 3 IAGP HPO PMID:29167417 MIM:620231 ORPHA:51083 NCBI chr 2:219,627,630...219,641,971
Ensembl chr 2:219,627,394...219,641,980
JBrowse link
G SLC8A1 solute carrier family 8 member A1 IAGP DNA:SNP::rs13017846 RGD PMID:22726844 RGD:13605621 NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
JBrowse link
ST segment depression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:15877279 MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100
JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457
JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO MIM:613243 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041
JBrowse link
ST segment elevation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO ORPHA:130 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP HPO ORPHA:130 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO ORPHA:130 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:130 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP HPO ORPHA:130 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557
JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP HPO ORPHA:130 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709
JBrowse link
G GYG1 glycogenin 1 IAGP HPO PMID:20357282 MIM:613507 ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO PMID:19165230 MIM:613123 ORPHA:130 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO PMID:21349352 MIM:616399 ORPHA:130 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP HPO PMID:19122847 MIM:613119 ORPHA:130 NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:130 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:130 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
JBrowse link
G PKP2 plakophilin 2 IAGP HPO ORPHA:130 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:94125 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:15877279 MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link
G RANGRF RAN guanine nucleotide release factor IAGP HPO ORPHA:130 NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092
JBrowse link
G SCN10A sodium voltage-gated channel alpha subunit 10 IAGP HPO ORPHA:130 NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO PMID:18464934 MIM:612838 ORPHA:130 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP HPO PMID:19808477 MIM:615378 ORPHA:130 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,162,806...118,176,639
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP HPO MIM:613120 ORPHA:130 NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244
JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:130 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:130 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:130 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SLMAP sarcolemma associated protein IAGP HPO ORPHA:130 NCBI chr 3:57,756,309...57,930,013
Ensembl chr 3:57,755,450...57,930,003
JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP HPO ORPHA:130 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
JBrowse link
T-wave alternans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALM1 calmodulin 1 IAGP HPO PMID:23388215 MIM:616247 NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
JBrowse link
G CALM3 calmodulin 3 IAGP HPO PMID:25460178 MIM:618782 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP HPO PMID:17592081 MIM:611819 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
T-wave inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 susceptibility IAGP DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) RGD PMID:25497880 RGD:243065272 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
JBrowse link
G GYG1 glycogenin 1 IAGP HPO PMID:20357282 MIM:613507 ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775
JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP HPO PMID:25145518 MIM:163800 NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958
JBrowse link
G JUP junction plakoglobin IAGP HPO PMID:11691526 PMID:17924338 MIM:601214 MIM:611528 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931
JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:9535554 PMID:12404107 MIM:608758 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434
JBrowse link
G MYL3 myosin light chain 3 IAGP HPO PMID:12021217 MIM:608751 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:15877279 MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the cardiovascular system 15812
        Abnormal cardiovascular system physiology 7807
          Abnormality of cardiovascular system electrophysiology 2887
            Abnormal EKG 423
              Abnormal P wave + 7
              Abnormal PR interval + 23
              Abnormal PR segment + 0
              Abnormal QRS complex + 12
              Abnormal QT interval + 355
              Abnormal R wave + 0
              Abnormal ST segment + 39
              Abnormal T-wave + 38
              Abnormal U wave + 5
              Abnormal ventricular axis + 5
              Epsilon wave 2
              Irregular P-P interval 0
              Irregular RR interval 0
              J wave 1
paths to the root