RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: catecholaminergic polymorphic ventricular tachycardia
Accession: DOID:0060674
browse the term
Definition: A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)
Synonyms: exact_synonym: bidirectional tachycardia induced by catecholamines; catecholamine-induced polymorphic ventricular tachycardia
related_synonym: VTSIP; stress-induced polymorphic ventricular tachycardia
primary_id: MESH:C536334
xref: EFO:0004692 ; OMIM:PS604772 ; ORDO:3286
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar
PMID:28492532
NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641
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Akap9
A kinase anchor protein 9
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 5:3,977,410...4,130,204
Ensembl chr 5:3,978,054...4,131,310
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Ank2
ankyrin 2, brain
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 PMID:28191889 PMID:28492532 PMID:28518168 PMID:30564305 PMID:32461654 PMID:33004838 More...
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar
PMID:25260352 PMID:25633834 PMID:25741868 PMID:28492532 PMID:30847666
NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
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Calm1
calmodulin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
CTD ClinVar
PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 More...
NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073
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Casq2
calsequestrin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD ClinVar
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:16908766 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20513597 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:22650415 PMID:23286974 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:24679846 PMID:25163546 PMID:25351510 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26230511 PMID:26671417 PMID:27114410 PMID:27157848 PMID:27538377 PMID:27930701 PMID:28074886 PMID:28158428 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29178653 PMID:29255176 PMID:29544605 PMID:29766881 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31482657 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 PMID:33093545 PMID:35932045 PMID:36291626 PMID:37347419 PMID:37477868 More...
NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 PMID:19569224 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20716751 PMID:20857253 PMID:20864495 PMID:21455723 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 PMID:29038103 PMID:35087879 More...
NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:28492532 PMID:33552729
NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
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Fkbp1b
FK506 binding protein 1b
IAGP
MouseDO
NCBI chr12:4,883,174...4,891,736
Ensembl chr12:4,883,174...4,891,591
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Lmna
lamin A
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 PMID:16584978 PMID:17107595 PMID:18478590 PMID:18808171 PMID:19524666 PMID:21400569 PMID:22761994 PMID:23861362 PMID:23977161 PMID:24503780 PMID:24623722 PMID:24794538 PMID:25210889 PMID:25448463 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28531892 PMID:30420677 PMID:31428229 PMID:32041611 PMID:32376792 PMID:32698523 PMID:32793522 PMID:32880476 PMID:34240052 More...
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia
ClinVar
PMID:28492532
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mybpc3
myosin binding protein C, cardiac
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:28600387 PMID:29255176 More...
NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861
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Ryr2
ryanodine receptor 2, cardiac
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD ClinVar
PMID:285698 PMID:1817325 PMID:9536098 PMID:11078270 PMID:11157710 PMID:11159936 PMID:11208676 PMID:11389482 PMID:12093772 PMID:12106942 PMID:12169647 PMID:12459180 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15131021 PMID:15197150 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15887426 PMID:15890976 PMID:16084945 PMID:16188589 PMID:16199547 PMID:16239587 PMID:16272262 PMID:16339485 PMID:16391617 PMID:16436635 PMID:16517285 PMID:16769042 PMID:16818210 PMID:16825580 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17556193 PMID:17558603 PMID:17576681 PMID:17875969 PMID:18092949 PMID:18285261 PMID:18326664 PMID:18752142 PMID:18836296 PMID:19102802 PMID:19216760 PMID:19226252 PMID:19398665 PMID:19541610 PMID:19597050 PMID:19709828 PMID:19781797 PMID:19913485 PMID:19926015 PMID:20080988 PMID:20106799 PMID:20132818 PMID:20157052 PMID:20301466 PMID:20513597 PMID:20538074 PMID:20646679 PMID:20676041 PMID:20851825 PMID:20961976 PMID:21048710 PMID:21126784 PMID:21270786 PMID:21292648 PMID:21315846 PMID:21454795 PMID:21478052 PMID:21616285 PMID:21645850 PMID:21652165 PMID:21659649 PMID:21742998 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22174035 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22383456 PMID:22396703 PMID:22515980 PMID:22584458 PMID:22584762 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23022705 PMID:23152493 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23479668 PMID:23549275 PMID:23595086 PMID:23651034 PMID:23671135 PMID:23757202 PMID:23810894 PMID:23820649 PMID:23861362 PMID:23871484 PMID:23934111 PMID:23973953 PMID:23978697 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24136861 PMID:24147812 PMID:24394973 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24728420 PMID:24743769 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25363768 PMID:25370123 PMID:25372681 PMID:25440180 PMID:25445213 PMID:25467552 PMID:25500949 PMID:25554238 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25713214 PMID:25730765 PMID:25741868 PMID:25814417 PMID:25820315 PMID:25835811 PMID:25844899 PMID:25901278 PMID:25925909 PMID:25974703 PMID:26018045 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26383259 PMID:26402605 PMID:26498160 PMID:26569459 PMID:26636822 PMID:26656175 PMID:26666913 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26743400 PMID:26771585 PMID:26899768 PMID:27054166 PMID:27066507 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27332903 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27650965 PMID:27727376 PMID:27733687 PMID:27756708 PMID:27810088 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28074886 PMID:28087566 PMID:28100344 PMID:28125075 PMID:28135719 PMID:28150229 PMID:28158428 PMID:28166282 PMID:28166811 PMID:28202948 PMID:28237968 PMID:28255936 PMID:28341588 PMID:28359509 PMID:28377322 PMID:28404607 PMID:28416588 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28567303 PMID:28600387 PMID:28606196 PMID:28620067 PMID:28686619 PMID:28697927 PMID:28750076 PMID:28771489 PMID:28789916 PMID:28790152 PMID:28798025 PMID:28807990 PMID:28961276 PMID:28988457 PMID:29032884 PMID:29037160 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29255176 PMID:29350269 PMID:29368431 PMID:29396286 PMID:29396561 PMID:29434162 PMID:29447731 PMID:29453246 PMID:29477366 PMID:29511324 PMID:29543670 PMID:29544603 PMID:29544605 PMID:29555771 PMID:29568272 PMID:29750433 PMID:29766881 PMID:29874177 PMID:29884292 PMID:29899727 PMID:29915098 PMID:29925740 PMID:29951146 PMID:30020974 PMID:30086531 PMID:30197081 PMID:30355031 PMID:30403697 PMID:30453078 PMID:30471092 PMID:30615648 PMID:30670673 PMID:30696458 PMID:30763784 PMID:30821013 PMID:30830208 PMID:30835254 PMID:30847666 PMID:30975432 PMID:30993396 PMID:31019283 PMID:31057083 PMID:31078384 PMID:31112425 PMID:31114860 PMID:31155924 PMID:31195250 PMID:31231889 PMID:31333075 PMID:31337358 PMID:31402444 PMID:31513939 PMID:31534214 PMID:31535183 PMID:31539150 PMID:31568572 PMID:31624606 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31847883 PMID:31875585 PMID:31913406 PMID:31931689 PMID:31970460 PMID:32009526 PMID:32048431 PMID:32091590 PMID:32152366 PMID:32155531 PMID:32165824 PMID:32220801 PMID:32233023 PMID:32268277 PMID:32508047 PMID:32659924 PMID:32660257 PMID:32681117 PMID:32746448 PMID:32899693 PMID:33179747 PMID:33325730 PMID:33500567 PMID:33536282 PMID:33552729 PMID:33652119 PMID:33658040 PMID:33664309 PMID:33686871 PMID:33789662 PMID:33825858 PMID:33829027 PMID:33897349 PMID:33919104 PMID:33984427 PMID:34088380 PMID:34127479 PMID:34213952 PMID:34389451 PMID:34546463 PMID:34691145 PMID:34730774 PMID:34873534 PMID:34930847 PMID:35026164 PMID:35087879 PMID:35276540 PMID:35352813 PMID:35353122 PMID:35439358 PMID:35446340 PMID:35470680 PMID:35668055 PMID:35819174 PMID:35931078 PMID:35932045 PMID:36070930 PMID:36082968 PMID:36138163 PMID:36203036 PMID:36269083 PMID:36291626 PMID:36310724 PMID:36621286 PMID:36864708 PMID:36970376 PMID:37347419 PMID:37477868 PMID:37492947 PMID:37904629 PMID:38296580 More...
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Scn5a
sodium channel, voltage-gated, type V, alpha
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 PMID:28600387 PMID:32048431 More...
NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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Tecrl
trans-2,3-enoyl-CoA reductase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:83,425,969...83,503,042
Ensembl chr 5:83,425,992...83,503,042
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Trdn
triadin
ISO
DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human) ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19403623 PMID:19763152 PMID:20307669 PMID:21520333 PMID:22406018 PMID:22422768 PMID:22909776 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32746448 PMID:33432171 PMID:33895855 PMID:36203036 PMID:22422768 More...
RGD:7327227
NCBI chr10:32,959,479...33,352,705
Ensembl chr10:32,956,550...33,352,705
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Vangl1
VANGL planar cell polarity 1
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641
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Ank2
ankyrin 2, brain
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 PMID:28191889 PMID:28492532 PMID:28518168 PMID:30564305 PMID:32461654 PMID:33004838 More...
NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999
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Atp1a1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 More...
NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073
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Casq2
calsequestrin 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC
CTD ClinVar
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:16908766 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:22650415 PMID:23286974 PMID:23595086 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:24679846 PMID:25163546 PMID:25351510 PMID:25640679 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26230511 PMID:26671417 PMID:27114410 PMID:27157848 PMID:27538377 PMID:27930701 PMID:28074886 PMID:28158428 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29178653 PMID:29255176 PMID:29544605 PMID:29766881 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30729048 PMID:30775854 PMID:30847666 PMID:31482657 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 PMID:33093545 PMID:35932045 PMID:36291626 PMID:37347419 PMID:37477868 More...
NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830
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Dmpk
dystrophia myotonica-protein kinase
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
NCBI chr 7:18,817,571...18,827,746
Ensembl chr 7:18,817,774...18,827,746
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Dsg2
desmoglein 2
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:17105751 PMID:18382419 PMID:18678517 PMID:19039334 PMID:19358943 PMID:19569224 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20716751 PMID:20857253 PMID:20864495 PMID:21455723 PMID:21606390 PMID:23810883 PMID:23861362 PMID:24033266 PMID:24055113 PMID:25741868 PMID:28492532 PMID:29038103 PMID:35087879 More...
NCBI chr18:20,691,247...20,737,583
Ensembl chr18:20,691,131...20,737,578
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532 PMID:33552729
NCBI chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553
G
Kcnh2
potassium voltage-gated channel, subfamily H (eag-related), member 2
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
NCBI chr 5:24,524,583...24,556,671
Ensembl chr 5:24,524,587...24,556,602
G
Lama4
laminin, alpha 4
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr10:38,841,511...38,986,184
Ensembl chr10:38,841,511...38,986,184
G
Lmna
lamin A
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:12376891 PMID:12467752 PMID:14597414 PMID:15372542 PMID:15843404 PMID:16584978 PMID:17107595 PMID:18478590 PMID:18808171 PMID:19524666 PMID:21400569 PMID:22761994 PMID:23861362 PMID:23977161 PMID:24503780 PMID:24623722 PMID:24794538 PMID:25210889 PMID:25448463 PMID:25741868 PMID:27532257 PMID:28492532 PMID:28531892 PMID:30420677 PMID:31428229 PMID:32041611 PMID:32376792 PMID:32698523 PMID:32793522 PMID:32880476 PMID:34240052 More...
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
G
Mab21l3
mab-21-like 3
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr 3:101,720,392...101,743,601
Ensembl chr 3:101,720,392...101,756,275
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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Mybpc3
myosin binding protein C, cardiac
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600387
NCBI chr 2:90,948,459...90,966,862
Ensembl chr 2:90,948,489...90,966,861
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Nhlh2
nescient helix loop helix 2
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr 3:101,917,425...101,922,808
Ensembl chr 3:101,917,392...101,922,808
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Ryr2
ryanodine receptor 2, cardiac
ISO IAGP
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC OMIM:604772
OMIM ClinVar CTD MouseDO
PMID:285698 PMID:1817325 PMID:1992601 PMID:8589694 PMID:9536098 PMID:11078270 PMID:11157710 PMID:11159936 PMID:11208676 PMID:12093772 PMID:12106942 PMID:12169647 PMID:12459180 PMID:12837242 PMID:12919952 PMID:14571276 PMID:15131021 PMID:15175054 PMID:15197150 PMID:15364606 PMID:15364613 PMID:15466642 PMID:15544015 PMID:15721128 PMID:15749201 PMID:15887426 PMID:15890976 PMID:16084945 PMID:16188589 PMID:16199547 PMID:16239587 PMID:16272262 PMID:16339485 PMID:16391617 PMID:16436635 PMID:16517285 PMID:16769042 PMID:16818210 PMID:16825580 PMID:16843546 PMID:16873551 PMID:17062961 PMID:17556193 PMID:17558603 PMID:17576681 PMID:17875969 PMID:17984046 PMID:18092949 PMID:18285261 PMID:18326664 PMID:18483626 PMID:18752142 PMID:18836296 PMID:18849218 PMID:19102802 PMID:19216760 PMID:19226252 PMID:19330009 PMID:19398665 PMID:19541610 PMID:19597050 PMID:19709828 PMID:19781797 PMID:19913485 PMID:19926015 PMID:20080988 PMID:20106799 PMID:20132818 PMID:20157052 PMID:20301466 PMID:20538074 PMID:20646679 PMID:20676041 PMID:20851825 PMID:20961976 PMID:21048710 PMID:21126784 PMID:21292648 PMID:21315846 PMID:21454795 PMID:21478052 PMID:21616285 PMID:21652165 PMID:21659649 PMID:21742998 PMID:21768539 PMID:21954897 PMID:21964171 PMID:22068070 PMID:22174035 PMID:22221940 PMID:22222782 PMID:22373669 PMID:22374134 PMID:22383456 PMID:22396703 PMID:22515980 PMID:22584458 PMID:22584762 PMID:22677073 PMID:22787013 PMID:22828895 PMID:22956155 PMID:23022705 PMID:23098067 PMID:23152493 PMID:23204524 PMID:23286974 PMID:23396983 PMID:23549275 PMID:23595086 PMID:23651034 PMID:23671135 PMID:23757202 PMID:23810894 PMID:23820649 PMID:23861362 PMID:23871484 PMID:23934111 PMID:23973953 PMID:24025405 PMID:24033266 PMID:24055113 PMID:24113177 PMID:24136861 PMID:24147812 PMID:24447446 PMID:24503780 PMID:24558114 PMID:24631775 PMID:24793461 PMID:24978818 PMID:24981977 PMID:25041964 PMID:25087098 PMID:25092222 PMID:25163546 PMID:25193700 PMID:25194972 PMID:25351510 PMID:25363768 PMID:25370123 PMID:25372681 PMID:25440180 PMID:25467552 PMID:25500949 PMID:25554238 PMID:25616645 PMID:25637381 PMID:25640679 PMID:25650408 PMID:25713214 PMID:25730765 PMID:25741868 PMID:25775566 PMID:25814417 PMID:25820315 PMID:25844899 PMID:25901278 PMID:25925909 PMID:26112015 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26220970 PMID:26230511 PMID:26256814 PMID:26272908 PMID:26332594 PMID:26350513 PMID:26383259 PMID:26402605 PMID:26498160 PMID:26569459 PMID:26573135 PMID:26633542 PMID:26636822 PMID:26656175 PMID:26666913 PMID:26688388 PMID:26704558 PMID:26743238 PMID:26771585 PMID:26820365 PMID:26899768 PMID:27054166 PMID:27066507 PMID:27114410 PMID:27153395 PMID:27194543 PMID:27229459 PMID:27231019 PMID:27251404 PMID:27332903 PMID:27353043 PMID:27435932 PMID:27452199 PMID:27482086 PMID:27532257 PMID:27538377 PMID:27646203 PMID:27650965 PMID:27727376 PMID:27733687 PMID:27756708 PMID:27810088 PMID:27838126 PMID:27854218 PMID:27930701 PMID:28074886 PMID:28087566 PMID:28100344 PMID:28125075 PMID:28135719 PMID:28150229 PMID:28158428 PMID:28166811 PMID:28191890 PMID:28202948 PMID:28237968 PMID:28255936 PMID:28341588 PMID:28359509 PMID:28404607 PMID:28416588 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28567303 PMID:28600387 PMID:28606196 PMID:28620067 PMID:28686619 PMID:28697927 PMID:28750076 PMID:28771489 PMID:28789916 PMID:28790152 PMID:28798025 PMID:28807990 PMID:28961276 PMID:28988457 PMID:29032884 PMID:29037160 PMID:29132927 PMID:29181379 PMID:29192238 PMID:29247119 PMID:29255176 PMID:29350269 PMID:29368431 PMID:29396286 PMID:29396561 PMID:29434162 PMID:29447731 PMID:29453246 PMID:29477366 PMID:29511324 PMID:29543670 PMID:29544603 PMID:29544605 PMID:29555771 PMID:29568272 PMID:29668588 PMID:29750433 PMID:29760739 PMID:29766881 PMID:29874177 PMID:29884292 PMID:29899727 PMID:29915097 PMID:29915098 PMID:29925740 PMID:29951146 PMID:30020974 PMID:30029678 PMID:30086531 PMID:30197081 PMID:30296944 PMID:30355031 PMID:30403697 PMID:30453078 PMID:30471092 PMID:30615648 PMID:30670673 PMID:30696458 PMID:30763784 PMID:30821013 PMID:30830208 PMID:30835254 PMID:30847666 PMID:30975432 PMID:30993396 PMID:31019283 PMID:31057083 PMID:31078384 PMID:31112425 PMID:31114860 PMID:31155924 PMID:31195250 PMID:31231889 PMID:31333075 PMID:31337358 PMID:31402444 PMID:31513939 PMID:31534214 PMID:31535183 PMID:31539150 PMID:31568572 PMID:31624606 PMID:31638414 PMID:31737537 PMID:31785789 PMID:31847883 PMID:31875585 PMID:31913406 PMID:31931689 PMID:31970460 PMID:32009526 PMID:32048431 PMID:32091590 PMID:32152366 PMID:32155531 PMID:32220801 PMID:32233023 PMID:32268277 PMID:32508047 PMID:32516855 PMID:32659924 PMID:32660257 PMID:32681117 PMID:32746448 PMID:32899693 PMID:33179747 PMID:33325730 PMID:33500567 PMID:33536282 PMID:33552729 PMID:33652119 PMID:33658040 PMID:33664309 PMID:33686871 PMID:33789662 PMID:33825858 PMID:33829027 PMID:33897349 PMID:33919104 PMID:34088380 PMID:34127479 PMID:34213952 PMID:34389451 PMID:34546463 PMID:34691145 PMID:34730774 PMID:34873534 PMID:34930847 PMID:34949103 PMID:35026164 PMID:35087879 PMID:35276540 PMID:35352813 PMID:35353122 PMID:35439358 PMID:35446340 PMID:35470680 PMID:35668055 PMID:35819174 PMID:35931078 PMID:35932045 PMID:36070930 PMID:36082968 PMID:36138163 PMID:36203036 PMID:36269083 PMID:36291626 PMID:36310724 PMID:36621286 PMID:36864708 PMID:36970376 PMID:37347419 PMID:37477868 PMID:37492947 PMID:37904629 PMID:38296580 More...
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Scn5a
sodium channel, voltage-gated, type V, alpha
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
ClinVar
PMID:15840476 PMID:19841300 PMID:20129283 PMID:22581653 PMID:23805106 PMID:24033266 PMID:25351510 PMID:25741868 PMID:25904541 PMID:28492532 PMID:28600387 PMID:32048431 More...
NCBI chr 9:119,312,470...119,408,096
Ensembl chr 9:119,312,474...119,408,082
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Slc22a15
solute carrier family 22 (organic anion/cation transporter), member 15
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:28492532
NCBI chr 3:101,763,084...101,831,769
Ensembl chr 3:101,763,092...101,831,769
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Tnni3k
TNNI3 interacting kinase
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:25741868
NCBI chr 3:154,491,928...154,761,044
Ensembl chr 3:154,491,928...154,761,044
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Tpm1
tropomyosin 1, alpha
ISO
ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688
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Trdn
triadin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
CTD ClinVar
PMID:9536098 PMID:10497235 PMID:16199547 PMID:17576681 PMID:19403623 PMID:21520333 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32746448 PMID:33432171 PMID:33895855 PMID:34415104 PMID:36203036 More...
NCBI chr10:32,959,479...33,352,705
Ensembl chr10:32,956,550...33,352,705
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204
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Vangl1
VANGL planar cell polarity 1
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009
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Casq2
calsequestrin 2
ISO IAGP
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 OMIM:611938
OMIM ClinVar MouseDO
PMID:9536098 PMID:11704930 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:16601229 PMID:16908766 PMID:17576681 PMID:17881003 PMID:18469084 PMID:18543230 PMID:18583715 PMID:18684293 PMID:19398665 PMID:19709828 PMID:20301466 PMID:20353949 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:22650415 PMID:23286974 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:24679846 PMID:25163546 PMID:25351510 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26196381 PMID:26230511 PMID:26671417 PMID:27114410 PMID:27157848 PMID:27538377 PMID:27930701 PMID:28074886 PMID:28158428 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29032884 PMID:29255176 PMID:29544605 PMID:29766881 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31482657 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 PMID:33093545 PMID:35932045 PMID:36291626 PMID:37347419 PMID:37477868 More...
NCBI chr 3:101,993,731...102,053,830
Ensembl chr 3:101,993,731...102,053,830
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Ryr2
ryanodine receptor 2, cardiac
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2
ClinVar
NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831
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Vangl1
VANGL planar cell polarity 1
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2
ClinVar
PMID:24033266 PMID:25741868 PMID:26196381 PMID:28492532
NCBI chr 3:102,060,899...102,112,012
Ensembl chr 3:102,060,899...102,112,009
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Tecrl
trans-2,3-enoyl-CoA reductase-like
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition
OMIM ClinVar
PMID:17666061 PMID:25741868 PMID:27861123 PMID:30790670 PMID:31737537 PMID:32173957 PMID:33367594 More...
NCBI chr 5:83,425,969...83,503,042
Ensembl chr 5:83,425,992...83,503,042
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4
OMIM ClinVar
PMID:9536098 PMID:11569915 PMID:17576681 PMID:23040497 PMID:23388215 PMID:24563457 PMID:24816216 PMID:24958779 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:26969752 PMID:27165696 PMID:27374306 PMID:27927985 PMID:28158429 PMID:28492532 More...
NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073
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Trdn
triadin
ISO
ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:27848944 PMID:28341588 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31437535 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32746448 PMID:33432171 PMID:34415104 PMID:36203036 More...
NCBI chr10:32,959,479...33,352,705
Ensembl chr10:32,956,550...33,352,705
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Calm3
calmodulin 3
ISO
ClinVar Annotator: match by term: Long QT syndrome 16
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25460178 PMID:25741868 PMID:28492532 PMID:31454269 More...
NCBI chr 7:16,649,304...16,657,957
Ensembl chr 7:16,649,304...16,658,039
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