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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:dextro-looped transposition of the great arteries
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Accession:DOID:0060770 term browser browse the term
Definition:A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)
Synonyms:exact_synonym: D-TGA;   DTGA1;   TRANSPOSITION OF THE GREAT ARTERIES;   congenitally uncorrected transposition of the great arteries;   congenitally uncorrected transposition of the great vessels;   dextro-looped transposition of the great arteries 1;   great arteries transposition;   great arteries transpositions;   great vessels transposition;   great vessels transpositions;   isolated ventriculoarterial discordance;   transposition of great arteries;   transposition of great vessels;   ventriculoarterial discordance with atrioventricular concordance
 broad_synonym: MED13L-RELATED CONDITION;   MED13L-related disorder
 primary_id: MESH:D014188
 alt_id: DOID:0060771;   MESH:C563853;   OMIM:608808
 xref: ICD10CM:Q20.3;   MONDO:0000153;   NCI:C84742;   ORDO:860


show annotations for term's descendants           Sort by:
dextro-looped transposition of the great arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1B activin A receptor type 1B ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped ClinVar NCBI chr27:3,009,710...3,029,726
Ensembl chr27:2,994,857...3,042,396 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped ClinVar NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO MouseDO NCBI chr 5:32,194,326...32,201,922
Ensembl chr 5:32,194,313...32,201,857 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Transposition of the great arteries ClinVar PMID:12845333 PMID:25741868 NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GDF1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17924340 NCBI chr20:44,233,304...44,234,072 JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 ISO MouseDO NCBI chr 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G LOC609557 cryptic protein ISO MouseDO NCBI chr19:20,318,937...20,384,369 JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped ClinVar PMID:5167861 PMID:9536098 PMID:14638541 PMID:16199547 PMID:17576681 More... NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: : (rs1051266) (human) RGD PMID:22868813 RGD:11565105 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094 		JBrowse link
Congenitally Corrected Transposition of the Great Arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries ClinVar PMID:25741868 NCBI chr 4:21,366,828...21,374,623
Ensembl chr 4:21,367,583...21,375,151 		JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,615,683...34,659,739
Ensembl chr25:34,615,249...34,659,755 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545 		JBrowse link
G C25H8orf58 chromosome 25 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,674,918...34,679,389
Ensembl chr25:34,674,756...34,679,454 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,660,026...34,674,129
Ensembl chr25:34,660,553...34,674,037 		JBrowse link
G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,242,671...34,257,268
Ensembl chr25:34,244,022...34,257,211 		JBrowse link
G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,163,867...35,188,761
Ensembl chr25:35,165,876...35,176,754 		JBrowse link
G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,591,691...34,597,144
Ensembl chr25:34,591,863...34,594,346 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,032,104...34,067,772
Ensembl chr25:34,032,055...34,063,281 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,194,400...35,204,787
Ensembl chr25:35,194,394...35,199,792 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,144,949...35,157,228
Ensembl chr25:35,146,390...35,162,394 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,097,464...35,105,930
Ensembl chr25:35,097,566...35,105,940 		JBrowse link
G LOC100688321 tumor necrosis factor receptor superfamily member 26-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr18:47,008,850...47,029,029 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474 		JBrowse link
G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,139,580...35,144,066
Ensembl chr25:35,140,969...35,143,063 		JBrowse link
G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,684,954...34,699,144
Ensembl chr25:34,684,964...34,699,166 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,329,160...34,574,086
Ensembl chr25:34,317,421...34,574,066 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,025,823...35,038,513
Ensembl chr25:35,026,692...35,037,163 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339 		JBrowse link
G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,011,189...35,016,617
Ensembl chr25:35,011,861...35,016,605 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994 		JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,187,691...34,206,970
Ensembl chr25:34,160,856...34,206,970 		JBrowse link
G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,109,210...35,113,152
Ensembl chr25:35,109,236...35,117,048 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,923,108...33,965,577
Ensembl chr25:33,894,132...33,965,398 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695 		JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,701,495...34,725,231
Ensembl chr25:34,702,238...34,709,811 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736 		JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,216,568...44,231,820 JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,233,304...44,234,072 JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183 		JBrowse link
G LOC609557 cryptic protein ISO OMIM:217095 MouseDO NCBI chr19:20,318,937...20,384,369 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
multiple types of congenital heart defects 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr20:44,216,568...44,231,820 JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 OMIM
ClinVar		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr20:44,233,304...44,234,072 JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr20:44,234,411...44,271,129
Ensembl chr20:44,236,264...44,270,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      congenital heart disease 1341
        dextro-looped transposition of the great arteries 56
          Congenitally Corrected Transposition of the Great Arteries 1
          Dextro-Looped Transposition of the Great Arteries 2 0
          Radial Ray Deficiency, X-Linked 0
          double outlet right ventricle + 47
          multiple types of congenital heart defects 6 3
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7452
          Cardiovascular Abnormalities 1537
            congenital heart disease 1341
              dextro-looped transposition of the great arteries 56
                Congenitally Corrected Transposition of the Great Arteries 1
                Dextro-Looped Transposition of the Great Arteries 2 0
                Radial Ray Deficiency, X-Linked 0
                double outlet right ventricle + 47
                multiple types of congenital heart defects 6 3
paths to the root