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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:Overriding Aorta
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Accession:DOID:9006735 term browser browse the term
Synonyms:exact_synonym: dextraposition of aorta


show annotations for term's descendants           Sort by:
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G Bmp10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISS OMIM:187500 MouseDO NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:187500 MouseDO NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Hira histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G Invs inversin ISS OMIM:187500 MouseDO NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... RGD:1582344 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS		 DNA:missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:187500
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr19:56,359,455...56,514,628
Ensembl chr19:56,359,455...56,513,633 		JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Phc1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr 4:155,510,274...155,532,636
Ensembl chr 4:155,510,274...155,533,959 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO
ISS		 OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      cardiovascular system disease 5566
        vascular disease 4075
          artery disease 2926
            aortic disease 816
              Overriding Aorta 48
                tetralogy of Fallot + 48
paths to the root