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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:Atrial Septal Defect with Atrioventricular Conduction Defects
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Accession:DOID:9006886 term browser browse the term
Synonyms:exact_synonym: ASD with Atrioventricular Conduction Defects
 primary_id: MESH:C566238



show annotations for term's descendants           Sort by:
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957
JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:1260978 PMID:9651244 PMID:10587520 PMID:10903346 PMID:10943630 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,520,383...16,524,604 JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434
JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157
JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957
JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS
ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
CTD Direct Evidence: marker/mechanism
OMIM:108900
OMIM
ClinVar
CTD
MouseDO
PMID:1260978 PMID:9651244 PMID:10587520 PMID:10903346 PMID:10943630 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,520,383...16,524,604 JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    physical disorder 4937
      congenital heart disease 1343
        heart septal defect 214
          atrial heart septal defect 121
            Atrial Septal Defect with Atrioventricular Conduction Defects 9
              atrial heart septal defect 7 9
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        Congenital Abnormalities 7501
          Cardiovascular Abnormalities 1543
            congenital heart disease 1343
              heart septal defect 214
                atrial heart septal defect 121
                  Atrial Septal Defect with Atrioventricular Conduction Defects 9
                    atrial heart septal defect 7 9
paths to the root