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
Accession: DOID:0060770
browse the term
Definition: A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.
Synonyms: exact_synonym: D-TGA; Great Arteries Transposition; Great Vessels Transposition; Great Vessels Transpositions; Transposition of Great Arteries; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; great arteries transpositions; isolated ventriculoarterial discordance; transposition of great vessels; ventriculoarterial discordance with atrioventricular concordance
primary_id: MESH:D014188
xref: ICD10CM:Q20.3 ; NCI:C84742 ; OMIM:PS608808 ; ORDO:860
For additional species annotation, visit the
Alliance of Genome Resources .
G
Gdf1
growth differentiation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17924340
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
G
Med13l
mediator complex subunit 13L
ISO
RGD
PMID:14638541
RGD:1580649
NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP: : rs1801133(human)
RGD
PMID:22868813
RGD:11565105
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Slc19a1
solute carrier family 19 member 1
susceptibility
ISO
DNA:SNP: : rs1051266(human)
RGD
PMID:22868813
RGD:11565105
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Ttn
titin
ISO
ClinVar Annotator: match by term: Transposition of great vessels
ClinVar
PMID:30311386
NCBI chr 3:63,565,160...63,837,815
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Nodal
nodal growth differentiation factor
ISO
ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries
ClinVar
PMID:25741868
NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
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Add1
adducin 1
ISO
DNA:SNP: :p.G460W (human)
RGD
PMID:16100725
RGD:5147996
NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Interrupted aortic arch
ClinVar
PMID:30311386
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
G
Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Interrupted aortic arch
ClinVar
PMID:30311386
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
G
Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Interrupted aortic arch
ClinVar
PMID:30311386
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
G
Foxh1
forkhead box H1
ISO
ClinVar Annotator: match by term: Conotruncal defect
ClinVar
PMID:25741868 PMID:32003456
NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
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Gata6
GATA binding protein 6
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:SNPs:cds:c.677C>T,c.1298A>C (human)
RGD
PMID:12705333
RGD:11565174
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Nkx2-5
NK2 homeobox 5
ISO
ClinVar Annotator: match by term: Truncus arteriosus communis
OMIM ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
G
Nkx2-6
NK2 homeobox 6
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar OMIM
PMID:24421281 PMID:25741868 PMID:28492532
NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: Conotruncal heart malformations
OMIM ClinVar
PMID:11748311 PMID:15355425 PMID:18375573 PMID:25741868 PMID:28492532
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:608808
MouseDO
NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
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Dvl2
dishevelled segment polarity protein 2
ISS
OMIM:608808
MouseDO
NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
G
Hspg2
heparan sulfate proteoglycan 2
ISS
OMIM:608808
MouseDO
NCBI chr 5:155,812,096...155,913,751
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 1
OMIM ClinVar
PMID:14638541 PMID:23403903 PMID:24781760 PMID:25741868 PMID:27824329 PMID:28492532 PMID:28645799
NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3
ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3
OMIM ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
G
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by null
ClinVar
PMID:17924340
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
G
Cfc1
cripto, FRL-1, cryptic family 1
ISS
OMIM:217095
MouseDO
NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
G
Ece1
endothelin converting enzyme 1
ISS
OMIM:217095
MouseDO
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
G
Gata6
GATA binding protein 6
ISS
OMIM:217095
MouseDO
NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
G
Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by null CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17924340
NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
G
Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:25741868
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
G
Nkx2-5
NK2 homeobox 5
ISS
OMIM:217095
MouseDO
NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
G
Nkx2-6
NK2 homeobox 6
ISS
OMIM:217095
MouseDO
NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
G
Tbx1
T-box transcription factor 1
ISS
OMIM:217095
MouseDO
NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
G
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478334
NCBI chr 9:121,802,471...121,918,906
Ensembl chr 9:121,802,673...121,902,678
G
Zfpm2
zinc finger protein, multitype 2
ISO
ClinVar Annotator: match by null ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:28492532
NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
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