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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 10
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Accession:DOID:0110651 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: LQT10
 xref: GARD:10436;   MESH:C567514;   MIM:611819;   MONDO:0012737


show annotations for term's descendants           Sort by:
long QT syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Phldb1 pleckstrin homology like domain, family B, member 1 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Long QT syndrome 10		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17592081 PMID:20226894 More... NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Long QT syndrome 10 ClinVar PMID:28492532 NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
Familial Atrial Fibrillation 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 ClinVar PMID:23604097 NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16226
    syndrome 10770
      long QT syndrome 314
        long QT syndrome 10 38
          Familial Atrial Fibrillation 17 1
Path 2
Term Annotations click to browse term
  disease 16226
    disease of anatomical entity 15845
      respiratory system disease 5125
        thoracic disease 3952
          heart disease 3364
            cardiomyopathy 1449
              intrinsic cardiomyopathy 1025
                long QT syndrome 314
                  long QT syndrome 10 38
                    Familial Atrial Fibrillation 17 1
paths to the root