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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;   MIM:PS614429;   NCI:C84506;   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 ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652 		JBrowse link
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 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		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 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 3:70,937,957...71,007,431
Ensembl chr 3:70,937,926...71,016,115 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858 		JBrowse link
G GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21165553 RGD:12914792 NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507 		JBrowse link
G TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 1:26,856,281...26,859,654
Ensembl chr 1:26,856,587...26,859,647 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		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 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		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 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:36,582,438...36,618,265
Ensembl chr 6:36,582,461...36,616,206 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		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 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr23:19,758,907...19,787,725
Ensembl chr23:19,762,052...19,787,614 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr26:11,462,541...11,549,699
Ensembl chr26:11,463,653...11,506,446 		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, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057 		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 chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		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 chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		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 chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449 		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 chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		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 chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473 		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:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr20:8,333,911...8,342,429 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 chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426 		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 chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		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 chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:10,230,568...11,058,693
Ensembl chr20:10,230,557...11,058,703 		JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658 		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 chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		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 chr20:8,630,981...8,663,918
Ensembl chr20:8,630,747...8,660,389 		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 chr20:9,524,393...9,582,939
Ensembl chr20:9,524,413...9,583,529 		JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		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 chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954 		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 chr20:9,163,322...9,271,224
Ensembl chr20:9,163,428...9,263,730 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004 		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 chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		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 chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287 		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 chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564 		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 chr20:8,894,150...9,147,060
Ensembl chr20:8,894,155...9,142,066 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913 		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 chr20:8,101,994...8,131,578 JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,779,442...8,802,286
Ensembl chr20:8,779,442...8,802,215 		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 chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056 		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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		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 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers 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 chr25:26,336,253...26,357,494
Ensembl chr25:26,336,892...26,358,015 		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 chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801 		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 chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		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 chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		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 chr25:26,102,652...26,117,418
Ensembl chr25:26,103,111...26,117,544 		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:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr 7:65,932,114...65,962,574 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 chr 7:66,173,414...66,289,477
Ensembl chr 7:66,178,594...66,289,491 		JBrowse link
G MIR1-2 microRNA mir-1-2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 7:66,214,380...66,214,438
Ensembl chr 7:66,214,366...66,214,450 		JBrowse link
G MIR133A microRNA mir-133a ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 7:66,217,486...66,217,572
Ensembl chr 7:66,217,486...66,217,572 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction 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 and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		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:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		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:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		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 chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,615,683...34,659,739
Ensembl chr25:34,615,249...34,659,755 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545 		JBrowse link
G C25H8orf58 chromosome 25 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,674,918...34,679,389
Ensembl chr25:34,674,756...34,679,454 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,660,026...34,674,129
Ensembl chr25:34,660,553...34,674,037 		JBrowse link
G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,242,671...34,257,268
Ensembl chr25:34,244,022...34,257,211 		JBrowse link
G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,163,867...35,188,761
Ensembl chr25:35,165,876...35,176,754 		JBrowse link
G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,591,691...34,597,144
Ensembl chr25:34,591,863...34,594,346 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,032,104...34,067,772
Ensembl chr25:34,032,055...34,063,281 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,194,400...35,204,787
Ensembl chr25:35,194,394...35,199,792 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,144,949...35,157,228
Ensembl chr25:35,146,390...35,162,394 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,097,464...35,105,930
Ensembl chr25:35,097,566...35,105,940 		JBrowse link
G LOC100688321 tumor necrosis factor receptor superfamily member 26-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr18:47,008,850...47,029,029 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474 		JBrowse link
G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,139,580...35,144,066
Ensembl chr25:35,140,969...35,143,063 		JBrowse link
G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,684,954...34,699,144
Ensembl chr25:34,684,964...34,699,166 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,329,160...34,574,086
Ensembl chr25:34,317,421...34,574,066 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,025,823...35,038,513
Ensembl chr25:35,026,692...35,037,163 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339 		JBrowse link
G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,011,189...35,016,617
Ensembl chr25:35,011,861...35,016,605 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994 		JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,187,691...34,206,970
Ensembl chr25:34,160,856...34,206,970 		JBrowse link
G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,109,210...35,113,152
Ensembl chr25:35,109,236...35,117,048 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,923,108...33,965,577
Ensembl chr25:33,894,132...33,965,398 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695 		JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,701,495...34,725,231
Ensembl chr25:34,702,238...34,709,811 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736 		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 term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,216,568...44,231,820 JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,233,304...44,234,072 JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183 		JBrowse link
G LOC609557 cryptic protein ISO OMIM:217095 MouseDO NCBI chr19:20,318,937...20,384,369 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		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 term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr 6:17,437,097...17,470,724 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
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 ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr20:8,333,911...8,342,429 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:25741868 PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr10:67,717,047...67,724,778
Ensembl chr10:67,717,980...67,724,739 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr20:44,216,568...44,231,820 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr20:8,333,911...8,342,429 JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr34:816,088...1,040,052
Ensembl chr34:805,455...1,038,273 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr28:35,862,267...36,397,666
Ensembl chr28:35,861,523...36,396,883 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858 		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 chr 7:65,932,114...65,962,574 JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr20:44,233,304...44,234,072 JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 1:64,630,656...64,646,546 JBrowse link
G HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559 		JBrowse link
G INVS inversin ISO OMIM:187500 MouseDO NCBI chr11:57,040,005...57,196,465
Ensembl chr11:57,040,070...57,195,281 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G LOC609557 cryptic protein ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr19:20,318,937...20,384,369 JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		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 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 2:3,416,062...3,553,929
Ensembl chr 2:3,413,821...3,552,483 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr27:36,797,327...36,816,726
Ensembl chr27:36,797,927...36,819,386 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		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 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
Ventricular Septal Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:8,333,911...8,342,429 JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164 		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 term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		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 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15674
    physical disorder 5100
      congenital heart disease 1380
        heart septal defect 219
          ventricular septal defect 160
            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 5
            Ventricular Septal Defect 2 1
            Ventricular Septal Defect 3 1
            atrioventricular septal defect + 61
            double outlet right ventricle + 47
            tetralogy of Fallot + 48
Path 2
Term Annotations click to browse term
  disease 15674
    Developmental Disease 13617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12660
        Congenital Abnormalities 7642
          Cardiovascular Abnormalities 1577
            congenital heart disease 1380
              heart septal defect 219
                ventricular septal defect 160
                  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 5
                  Ventricular Septal Defect 2 1
                  Ventricular Septal Defect 3 1
                  atrioventricular septal defect + 61
                  double outlet right ventricle + 47
                  tetralogy of Fallot + 48
paths to the root