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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:long QT syndrome 1
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Accession:DOID:0110644 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)
Synonyms:exact_synonym: LQT1;   LQT1 subtype;   long QT syndrome type 1;   long QT syndrome, LQT1 subtype;   ventricular fibrillation with prolonged QT interval
 narrow_synonym: LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO;   LQT1/2, Digenic;   VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC;   long QT syndrome 1, recessive
 primary_id: OMIM:192500
 alt_id: RDO:9000717
 xref: GARD:3284
For additional species annotation, visit the Alliance of Genome Resources.



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long QT syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 PMID:25649125 More... NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7485162 PMID:12571597 PMID:15178757 PMID:16253912 PMID:16650839 More... NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:18250309 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
JBrowse link
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID:9536098 PMID:17576681 PMID:23388215 PMID:24917665 PMID:25741868 More... NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31454269 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15318349 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136 PMID:19279339 PMID:21606390 PMID:21606396 PMID:21723241 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7828904 PMID:8899564 PMID:9328483 PMID:9354783 PMID:9354802 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:10219239 PMID:10220144 PMID:10984545 PMID:14760488 PMID:15368194 More... NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7889573 PMID:8877771 PMID:8914737 PMID:9024139 PMID:9452080 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:11371347 PMID:11841151 PMID:11861044 PMID:12086641 PMID:12148092 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval OMIM
ClinVar
PMID:1346223 PMID:1467812 PMID:2294929 PMID:8487283 PMID:8528244 More... NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:15580566 PMID:16770780 More... NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:7889574 PMID:8541846 PMID:8620612 PMID:8917568 PMID:10377081 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Snta1 syntrophin, alpha 1 ISO ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:19684871 PMID:20009079 PMID:22584458 PMID:23834499 PMID:23861362 More... NCBI chr 3:142,876,285...142,906,737
Ensembl chr 3:142,876,296...142,906,709
JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      long QT syndrome 271
        long QT syndrome 1 24
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          monogenic disease 8941
            autosomal genetic disease 7989
              autosomal dominant disease 5473
                long QT syndrome 1 24
paths to the root