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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:ventricular septal defect
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Accession:DOID:1657 term browser browse the term
Definition:A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)
Synonyms:exact_synonym: congenital ventricular septal defect;   interventricular septal defect;   intraventricular septal defect;   intraventricular septal defects;   ventricular heart septal defects;   ventricular septal abnormality;   ventricular septal defects
 primary_id: MESH:D006345
 xref: GARD:7853;   ICD10CM:Q21.0;   ICD9CM:745.4;   NCI:C84506;   OMIM:PS614429;   ORDO:1480
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)
RGD PMID:22407241, PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:21165553 RGD:12914792 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:30067223, PMID:19619907 RGD:11556206 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:29555671 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:121,802,471...121,918,906
Ensembl chr 9:121,802,673...121,902,678
JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:251,529,354...251,532,312
Ensembl chr 2:251,529,354...251,532,312
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 ISS
ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: Atrioventricular septal defect
MouseDO
ClinVar
PMID:27058611 NCBI chr15:8,730,871...8,757,165
Ensembl chr15:8,730,871...8,757,165
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
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 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,289,300...145,300,146
Ensembl chr 4:145,288,996...145,300,177
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,238,011...145,262,444
Ensembl chr 4:145,238,947...145,262,442
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2
ClinVar Annotator: match by term: CRELD1-related condition
ClinVar
OMIM
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 PMID:24697899 PMID:25516202 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,471,466...145,487,375
Ensembl chr 4:145,471,454...145,487,426
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,413,157...145,426,608
Ensembl chr 4:145,413,230...145,426,603
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,449,574...145,458,900
Ensembl chr 4:145,450,861...145,454,834
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,361,937...145,370,992
Ensembl chr 4:145,366,765...145,370,992
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,318,417...145,330,291
Ensembl chr 4:145,318,435...145,329,878
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,341,059...145,366,614
Ensembl chr 4:145,342,193...145,365,496
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar
PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:15863664 PMID:17352393 PMID:17576681 PMID:17592645 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19353638 PMID:19678963 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21055141 PMID:21110066 PMID:21373748 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22011241 PMID:22318994 PMID:22498567 PMID:22500510 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27130165 PMID:27139165 PMID:27374936 PMID:27391137 PMID:27535533 PMID:27899157 PMID:28132688 PMID:28161810 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29368431 PMID:29377543 PMID:31322791 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers 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:18414213 PMID:20581743 PMID:20631719 PMID:22158542 PMID:23223019 PMID:24310933 PMID:25741868 PMID:27756709 PMID:28166811 PMID:28381408 PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
Common Ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 OMIM
ClinVar
PMID:28991257 PMID:30232381 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
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 chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Truncus arteriosus communis OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar
OMIM
PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar
PMID:11748311 PMID:15355425 PMID:18375573 PMID:25741868 PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by null ClinVar PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:217095 MouseDO NCBI chr 9:41,045,352...41,051,979
Ensembl chr 9:41,045,363...41,052,024
JBrowse link
G Ece1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
JBrowse link
G Gata6 GATA binding protein 6 ISS OMIM:217095 MouseDO NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17924340 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISS OMIM:217095 MouseDO NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nkx2-6 NK2 homeobox 6 ISS OMIM:217095 MouseDO NCBI chr15:51,034,620...51,038,715
Ensembl chr15:51,034,620...51,038,704
JBrowse link
G Tbx1 T-box transcription factor 1 ISS OMIM:217095 MouseDO NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:121,802,471...121,918,906
Ensembl chr 9:121,802,673...121,902,678
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Double outlet right ventricle
ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome
ClinVar Annotator: match by OMIM:136140
OMIM
ClinVar
PMID:11522779 PMID:18414213 PMID:20358590 PMID:22265015 PMID:22965468 PMID:23165645 PMID:23193612 PMID:23621943 PMID:23763483 PMID:24970356 PMID:25326637 PMID:25433523 PMID:25741868 PMID:26788936 PMID:28492532 NCBI chr 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of Fallot ClinVar PMID:25741868 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD
ClinVar
PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Bmp10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 4:119,224,906...119,230,534
Ensembl chr 4:119,225,040...119,230,728
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISS OMIM:187500 MouseDO NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dock1 dedicator of cyto-kinesis 1 ISS OMIM:187500 MouseDO NCBI chr 1:206,900,617...207,414,852
Ensembl chr 1:206,900,617...207,414,843
JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
G Fgf8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar
PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:23626780 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27130165 PMID:27139165 PMID:27374936 PMID:27535533 PMID:28161810 PMID:28492532 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar
PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot
CTD
ClinVar
PMID:17924340 PMID:28492532 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
ISS
DNA:duplications
OMIM:187500
MouseDO PMID:22199024 RGD:7207464 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
JBrowse link
G Invs inversin ISS OMIM:187500 MouseDO NCBI chr 5:64,031,131...64,180,830
Ensembl chr 5:64,053,946...64,178,759
JBrowse link
G Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 1:32,634,774...32,645,151
Ensembl chr 1:32,634,796...32,643,771
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11152664 PMID:12649809 PMID:20437614 PMID:25741868 PMID:28492532, PMID:11152664 RGD:1582344 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by OMIM:187500
ClinVar
OMIM
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:15917268 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532, PMID:11714651 RGD:1581133 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Phc1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:15277225 PMID:15281979 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21765987 PMID:21810974 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23660872 PMID:24336963 PMID:25157968 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26467025 PMID:27539324 PMID:27807060 PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28592524 NCBI chr11:9,079,291...10,146,302
Ensembl chr11:9,642,365...10,143,317
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:187500
OMIM
ClinVar
CTD
PMID:11748311 PMID:15355425 PMID:18375573 PMID:19948535 PMID:24998776 PMID:25093829 PMID:25741868 PMID:28272434 PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar
OMIM
PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532, PMID:14517948 RGD:1580641 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Ventricular Septal Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1
ClinVar Annotator: match by OMIM:614429
OMIM
ClinVar
PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20874241 PMID:21110066 PMID:21519287 PMID:21637914 PMID:22101736 PMID:23626780 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27130165 PMID:27139165 PMID:27374936 PMID:28161810 PMID:28492532 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
Ventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by OMIM:614431 OMIM
ClinVar
PMID:16287139 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
Ventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3
ClinVar Annotator: match by OMIM:614432
OMIM
ClinVar
PMID:20659440 PMID:21110066 PMID:21165553 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      congenital heart disease 1075
        heart septal defect 133
          ventricular septal defect 85
            Aneurysm of Interventricular Septum 0
            Brachydactyly, Intraventricular Septal Defect, and Deafness 0
            Common Ventricle 1
            Floating-Harbor syndrome 1
            Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
            Laurence Prosser Rocker Syndrome 0
            Partial Atrioventricular Canal 0
            Ventricular Septal Defect 1 1
            Ventricular Septal Defect 2 1
            Ventricular Septal Defect 3 1
            atrioventricular septal defect + 36
            double outlet right ventricle + 14
            tetralogy of Fallot + 40
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Cardiovascular Abnormalities 1127
            congenital heart disease 1075
              heart septal defect 133
                ventricular septal defect 85
                  Aneurysm of Interventricular Septum 0
                  Brachydactyly, Intraventricular Septal Defect, and Deafness 0
                  Common Ventricle 1
                  Floating-Harbor syndrome 1
                  Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                  Laurence Prosser Rocker Syndrome 0
                  Partial Atrioventricular Canal 0
                  Ventricular Septal Defect 1 1
                  Ventricular Septal Defect 2 1
                  Ventricular Septal Defect 3 1
                  atrioventricular septal defect + 36
                  double outlet right ventricle + 14
                  tetralogy of Fallot + 40
paths to the root