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: Familial Ventricular Tachycardia
Accession: DOID:9007215
browse the term
Synonyms: exact_synonym: familial polymorphic ventricular tachycardia; polymorphic ventricular tachycardia
primary_id: OMIM:192605
alt_id: RDO:0008196
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Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar
PMID:25260352 PMID:25633834 PMID:25741868 PMID:28492532 PMID:30847666
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar
PMID:23040497 PMID:24563457 PMID:24816216 PMID:25557436 PMID:25741868 PMID:26164367 PMID:26309258 PMID:27165696 PMID:28492532 More...
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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Casq2
calsequestrin 2
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia
ClinVar
PMID:9536098 PMID:12034872 PMID:12386154 PMID:14571276 PMID:16199547 PMID:17576681 PMID:17881003 PMID:18543230 PMID:18684293 PMID:19709828 PMID:20530761 PMID:21063088 PMID:21076409 PMID:21265816 PMID:21454795 PMID:21618644 PMID:22421959 PMID:22553997 PMID:23286974 PMID:23861362 PMID:24025405 PMID:24033266 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25651173 PMID:25691538 PMID:25741868 PMID:26671417 PMID:27114410 PMID:27538377 PMID:27930701 PMID:28361054 PMID:28404607 PMID:28492532 PMID:29255176 PMID:29915098 PMID:30600839 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31589614 PMID:31983221 PMID:32298319 PMID:32574564 PMID:32693635 More...
NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267
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Gnai2
G protein subunit alpha i2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
ClinVar Annotator: match by term: Polymorphic ventricular tachycardia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia
ClinVar
PMID:11159936 PMID:12106942 PMID:12459180 PMID:15131021 PMID:15364606 PMID:15364613 PMID:15544015 PMID:16188589 PMID:16239587 PMID:16391617 PMID:16517285 PMID:16769042 PMID:16818210 PMID:17062961 PMID:18326664 PMID:19398665 PMID:19541610 PMID:19709828 PMID:19913485 PMID:19926015 PMID:20106799 PMID:20961976 PMID:21315846 PMID:21616285 PMID:21659649 PMID:22221940 PMID:22373669 PMID:22374134 PMID:22677073 PMID:22787013 PMID:22828895 PMID:23286974 PMID:23549275 PMID:23595086 PMID:23671135 PMID:23820649 PMID:23861362 PMID:23871484 PMID:24025405 PMID:24033266 PMID:24136861 PMID:24503780 PMID:25087098 PMID:25193700 PMID:25440180 PMID:25637381 PMID:25741868 PMID:26114861 PMID:26132555 PMID:26153920 PMID:26189708 PMID:26332594 PMID:26743238 PMID:27114410 PMID:27452199 PMID:27538377 PMID:27646203 PMID:28158428 PMID:28237968 PMID:28404607 PMID:28422759 PMID:28449774 PMID:28492532 PMID:28600387 PMID:28798025 PMID:29434162 PMID:29453246 PMID:29477366 PMID:29543670 PMID:29555771 PMID:29925740 PMID:30197081 PMID:30847666 PMID:31112425 PMID:31737537 PMID:32009526 PMID:32152366 PMID:33825858 More...
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Trdn
triadin
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar
PMID:28492532
NCBI chr 1:23,955,651...24,410,494
Ensembl chr 1:23,955,651...24,410,595
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Vangl1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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