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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:Conotruncal Cardiac Defects
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Accession:DOID:9007617 term browser browse the term
Synonyms:exact_synonym: CONOTRUNCAL DEFECT;   CTHM;   Truncus arteriosus communis;   conotruncal heart defect;   conotruncal heart malformations
 narrow_synonym: CAFS;   CONOTRUNCAL ANOMALY FACE SYNDROME;   DORV;   DOUBLE-OUTLET RIGHT VENTRICLE;   INTERRUPTED AORTIC ARCH;   PERSISTENT TRUNCUS ARTERIOSUS;   PTA
 primary_id: MESH:C535464
 alt_id: OMIM:217095
 xref: EFO:0005679;   MONDO:0016581


show annotations for term's descendants           Sort by:
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 chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,173,725...45,212,607
Ensembl chr15:45,173,732...45,212,604 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G C15h8orf58 similar to human chromosome 8 open reading frame 58 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,228,615...45,235,274
Ensembl chr15:45,228,615...45,233,254 		JBrowse link
G Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,212,797...45,228,001
Ensembl chr15:45,212,803...45,227,636 		JBrowse link
G Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,790,983...44,806,216
Ensembl chr15:44,790,996...44,806,216 		JBrowse link
G Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,677,974...45,702,261
Ensembl chr15:45,677,977...45,705,601 		JBrowse link
G Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,150,335...45,156,052
Ensembl chr15:45,150,567...45,154,627 		JBrowse link
G Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,630,878...44,658,654
Ensembl chr15:44,630,873...44,658,706 		JBrowse link
G Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063 		JBrowse link
G Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,656,641...45,674,603
Ensembl chr15:45,656,647...45,674,105 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Conotruncal heart malformations		 OMIM
CTD
ClinVar		 PMID:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,605,611...45,612,739
Ensembl chr15:45,605,611...45,612,739 		JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067 		JBrowse link
G Mir320a microRNA 320a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr15:44,443,151...44,447,248
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,473,851...44,476,443
Ensembl chr15:44,473,851...44,476,441 		JBrowse link
G Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,650,597...45,653,985
Ensembl chr15:45,650,664...45,653,963 		JBrowse link
G Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,235,421...45,250,187
Ensembl chr15:45,237,477...45,249,242 		JBrowse link
G Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,920,946...45,134,188
Ensembl chr15:44,921,886...45,134,191 		JBrowse link
G Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,533,974...45,545,223
Ensembl chr15:45,533,974...45,545,221 		JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,431,402...45,498,034
Ensembl chr15:45,431,703...45,497,702 		JBrowse link
G Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,511,587...45,516,256
Ensembl chr15:45,511,589...45,516,353 		JBrowse link
G Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,289,917...45,362,012
Ensembl chr15:45,290,373...45,361,832 		JBrowse link
G R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,774,552...44,781,864
Ensembl chr15:44,774,554...44,791,800 		JBrowse link
G Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,620,317...45,623,524
Ensembl chr15:45,619,941...45,623,526 		JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,868,251...44,888,436
Ensembl chr15:44,870,376...44,888,651 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,534,280...44,576,697
Ensembl chr15:44,536,727...44,577,199 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
G Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,252,921...45,284,758
Ensembl chr15:45,253,379...45,284,758 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital heart disease 1346
        Conotruncal Cardiac Defects 39
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Cardiovascular Abnormalities 1545
            congenital heart disease 1346
              heart septal defect 215
                Aortopulmonary Septal Defect 41
                  Persistent Truncus Arteriosus 41
                    Conotruncal Cardiac Defects 39
paths to the root