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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

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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 chrNW_004936609:2,510,178...2,533,934
Ensembl chrNW_004936609:2,510,182...2,533,925 		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 chrNW_004936609:2,433,162...2,444,258
Ensembl chrNW_004936609:2,430,484...2,444,361 		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 chrNW_004936609:2,460,379...2,498,614
Ensembl chrNW_004936609:2,449,601...2,498,661 		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 chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408 		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 chrNW_004936609:2,571,498...2,615,313
Ensembl chrNW_004936609:2,571,501...2,615,313 		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 chrNW_004936609:2,742,466...2,767,010
Ensembl chrNW_004936609:2,745,099...2,783,571 		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:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		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 chrNW_004936609:2,557,817...2,563,510
Ensembl chrNW_004936609:2,556,415...2,563,560 		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 chrNW_004936609:2,319,546...2,331,049
Ensembl chrNW_004936609:2,319,111...2,332,988 		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 chrNW_004936609:2,510,178...2,533,934
Ensembl chrNW_004936609:2,510,182...2,533,925 		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 chrNW_004936609:2,433,162...2,444,258
Ensembl chrNW_004936609:2,430,484...2,444,361 		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 chrNW_004936609:2,460,379...2,498,614
Ensembl chrNW_004936609:2,449,601...2,498,661 		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 chrNW_004936609:2,688,170...2,691,057
Ensembl chrNW_004936609:2,688,181...2,690,408 		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 chrNW_004936609:2,571,498...2,615,313
Ensembl chrNW_004936609:2,571,501...2,615,313 		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 chrNW_004936609:2,742,466...2,767,010
Ensembl chrNW_004936609:2,745,099...2,783,571 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO 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 OMIM
ClinVar		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		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 chrNW_004936609:2,557,817...2,563,510
Ensembl chrNW_004936609:2,556,415...2,563,560 		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 chrNW_004936609:2,319,546...2,331,049
Ensembl chrNW_004936609:2,319,111...2,332,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital heart disease 1284
        heart septal defect 200
          atrial heart septal defect 116
            Atrial Septal Defect with Atrioventricular Conduction Defects 9
              atrial heart septal defect 7 9
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Cardiovascular Abnormalities 1470
            congenital heart disease 1284
              heart septal defect 200
                atrial heart septal defect 116
                  Atrial Septal Defect with Atrioventricular Conduction Defects 9
                    atrial heart septal defect 7 9
paths to the root