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: Premature Cardiac Complexes
Accession: DOID:9002737
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Definition: A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases.
Synonyms: exact_synonym: Ectopic Heartbeat; Ectopic Heartbeats; Extrasystole; Extrasystoles; Premature Beat; Premature Beats; Premature Cardiac Complex; Premature Cardiac Complices
primary_id: MESH:D005117
xref: EFO:0009275
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Bag3
BAG cochaperone 3
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:183,102,871...183,126,858
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Lama4
laminin subunit alpha 4
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr20:43,946,898...44,087,972
Ensembl chr20:42,392,268...42,533,347
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles
ClinVar
PMID:203979 PMID:2943217 PMID:9536098 PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16858239 PMID:17576681 PMID:20045868 PMID:20433692 PMID:20435227 PMID:20800588 PMID:23283745 PMID:23782526 PMID:23861362 PMID:24033266 PMID:25351510 PMID:25741868 PMID:27600940 PMID:28138913 PMID:28492532 PMID:28615295 PMID:28679633 PMID:30645170 PMID:30775854 PMID:31028938 More...
NCBI chr 3:97,550,974...97,569,216
Ensembl chr 3:77,095,252...77,113,405
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Myl2
myosin light chain 2
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:8673105 PMID:11102452 PMID:11748309 PMID:12668451 PMID:14594949 PMID:15483641 PMID:16837010 PMID:18929571 PMID:19150977 PMID:20855589 PMID:21415409 PMID:22958901 PMID:23299917 PMID:23343568 PMID:24111713 PMID:24842367 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26116789 PMID:26284228 PMID:27435932 PMID:28467684 PMID:28492532 PMID:28518168 PMID:31315475 PMID:33337957 PMID:33558530 PMID:34935411 PMID:35653365 PMID:37652022 PMID:37904629 PMID:37937776 PMID:38489124 More...
NCBI chr12:40,114,964...40,126,236
Ensembl chr12:34,454,218...34,468,983
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Nexn
nexilin (F actin binding protein)
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:19881492 PMID:24033266 PMID:24503780 PMID:25741868 PMID:25979592 PMID:28492532 More...
NCBI chr 2:241,186,783...241,218,315
Ensembl chr 2:241,186,790...241,218,342
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11761419
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Pkp2
plakophilin 2
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:20857253 PMID:21606390 PMID:21636032 PMID:23137101 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24200904 PMID:24704780 PMID:25741868 PMID:28492532 PMID:29288195 More...
NCBI chr11:98,165,974...98,231,916
Ensembl chr11:84,661,783...84,727,730
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
PMID:23334666 PMID:25741868 PMID:26223499 PMID:28492532
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Tgfb3
transforming growth factor, beta 3
ISO
ClinVar Annotator: match by term: Premature ventricular contraction
ClinVar
NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:105,704,236...105,726,564
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Ttn
titin
ISO
ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28831623 More...
NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741
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