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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:Atrioventricular Septal Defect 2
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Accession:DOID:9009051 term browser browse the term
Synonyms:exact_synonym: AVSD2;   CRELD1-RELATED CONDITION
 related_synonym: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
 primary_id: MIM:606217


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Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar Annotator: match by term: Atrioventricular septal defect 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition		 ClinVar
OMIM		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822 		JBrowse link
G LINC00312 long intergenic non-protein coding RNA 312 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,571,782...8,574,668 JBrowse link
G LMCD1 LIM and cysteine rich domains 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112 		JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053 		JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040 		JBrowse link
G TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011 		JBrowse link
G TATDN2 TatD DNase domain containing 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218 		JBrowse link
G THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    physical disorder 7971
      congenital heart disease 2024
        heart septal defect 259
          ventricular septal defect 179
            atrioventricular septal defect 71
              Atrioventricular Septal Defect 2 40
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      respiratory system disease 16797
        thoracic disease 11913
          heart disease 10234
            congenital heart disease 2024
              heart septal defect 259
                atrial heart septal defect 156
                  atrioventricular septal defect 71
                    Atrioventricular Septal Defect 2 40
paths to the root