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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
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Accession:DOID:0050651 term browser browse the term
Definition:A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)
Synonyms:exact_synonym: AVC defect;   AVCD;   AVSD;   Atrioventricular Canal Defect;   ECD;   endocardial cushion defect
 narrow_synonym: AVSD1;   atrioventricular septal defect, somatic;   atrioventricular septal defect, susceptibility to, 1
 primary_id: MESH:C562831
 alt_id: MIM:606215
 xref: GARD:802;   ICD10CM:Q21.2;   ICD9CM:745.6;   MIM:PS606215;   NCI:C101029;   ORDO:98722


show annotations for term's descendants           Sort by:
atrioventricular septal defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,442,921...7,526,731 JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:15,411,764...15,444,402 JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:3,727,358...3,771,554
Ensembl chr16:4,892,827...4,936,615 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr 3:23,857,317...23,892,533
Ensembl chr 3:24,185,798...24,215,831 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr 3:9,878,265...9,889,826 JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,811,005...7,691,344
Ensembl chr 3:6,907,180...7,933,536 		JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,453,628...9,506,434
Ensembl chr 3:9,695,091...9,745,722 		JBrowse link
G LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,448,143...8,521,214 JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,701,344...8,721,706 JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,832,910...8,918,067
Ensembl chr 3:9,076,500...9,161,585 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,935,179...9,315,264
Ensembl chr 3:9,183,641...9,327,559 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,573,866...8,599,956
Ensembl chr 3:8,818,553...8,844,625 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389 		JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824 		JBrowse link
G THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:119,213,513...119,227,617 JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLK BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,637,680...7,708,914 JBrowse link
G CTSB cathepsin B ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,333,498...7,359,264 JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,363,250...7,399,863 JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G NEIL2 nei like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,415,540...7,433,270 JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:119,213,513...119,227,617 JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    physical disorder 5169
      congenital heart disease 1403
        heart septal defect 218
          ventricular septal defect 159
            atrioventricular septal defect 59
              Atrioventricular Septal Defect 2 37
              Atrioventricular Septal Defect 3 1
              Atrioventricular Septal Defect 4 5
              Atrioventricular Septal Defect 5 2
              Atrioventricular Septal Defect and Common Atrioventricular Junction 1
              Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
              Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      respiratory system disease 4885
        thoracic disease 3729
          heart disease 3181
            congenital heart disease 1403
              heart septal defect 218
                atrial heart septal defect 125
                  atrioventricular septal defect 59
                    Atrioventricular Septal Defect 2 37
                    Atrioventricular Septal Defect 3 1
                    Atrioventricular Septal Defect 4 5
                    Atrioventricular Septal Defect 5 2
                    Atrioventricular Septal Defect and Common Atrioventricular Junction 1
                    Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
paths to the root