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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;   long QT syndrome 1, recessive;   long QT syndrome 1/2, digenic
 xref: GARD:3284;   MIM:192500;   MONDO:0100316


show annotations for term's descendants           Sort by:
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:21270786 PMID:23861362 PMID:24033266 PMID:24123366 PMID:25467552 More... NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:31,011,475...31,147,338 		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:12571597 PMID:15178757 PMID:16253912 PMID:16650839 PMID:18832177 More... NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:218,052,555...218,537,259 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:69,342,813...69,476,931 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO 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 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		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:11569915 PMID:17576681 PMID:23388215 PMID:24076290 More... NCBI chr 6:12,845,170...12,857,830
Ensembl chr15:64,519,554...64,520,657
Ensembl chr 6:64,519,554...64,520,657 		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:11569915 PMID:17576681 PMID:23388215 PMID:24563457 More... NCBI chr 1:86,718,761...86,725,869
Ensembl chr 1:86,717,321...86,725,960 		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 4:147,137,993...147,153,967
Ensembl chr 4:147,137,797...147,153,967 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,991,613...31,010,450 		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 1:86,674,989...86,686,722
Ensembl chr 1:86,674,734...86,687,421 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:19095136 PMID:19279339 PMID:20716751 PMID:21606390 PMID:21606396 More... NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:86,692,609...86,696,463
Ensembl chr 1:86,692,642...86,696,408 		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 chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		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 chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168 		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:1100946 PMID:2581653 PMID:7889573 PMID:8635257 PMID:8700910 More... NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421 		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 chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901 		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 8:38,981,598...39,011,197
Ensembl chr 8:38,983,034...39,011,101 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISS
ISO 		OMIM:192500
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 		MouseDO
OMIM
ClinVar		 PMID:1346223 PMID:1467812 PMID:1584047 PMID:1984130 PMID:2294929 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		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 4:147,154,374...147,171,723
Ensembl chr 4:147,154,374...147,170,750 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:86,640,095...86,670,476
Ensembl chr 1:86,642,629...86,670,675 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:86,707,690...86,710,073
Ensembl chr 1:86,707,503...86,711,874 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:14644997 PMID:14961557 PMID:15121796 PMID:15723289 PMID:15928039 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:63,081,527...63,667,141
Ensembl chr17:63,081,527...63,666,705 		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 8:54,343,873...54,359,046
Ensembl chr 8:54,334,548...54,359,047 		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: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval
ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval 		ClinVar PMID:539905 PMID:617273 PMID:1097384 PMID:1452303 PMID:2437023 More... NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470 		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 3:163,336,509...163,366,954
Ensembl chr 3:163,336,516...163,366,927 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Long QT syndrome 1 ClinVar PMID:28492532 NCBI chr 1:86,614,193...86,639,959
Ensembl chr 1:86,610,210...86,639,955 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      long QT syndrome 316
        long QT syndrome 1 28
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            cardiomyopathy 1441
              intrinsic cardiomyopathy 1027
                long QT syndrome 316
                  long QT syndrome 1 28
paths to the root