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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 chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA5 GATA binding protein 5 IAGP
ISO		 DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22961344 PMID:22536403 RGD:155260356, RGD:329337340 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATA6 GATA binding protein 6 IAGP DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G IGF2 insulin like growth factor 2 treatment IEP RGD PMID:21238444 RGD:13204804 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G ISL1 ISL LIM homeobox 1 susceptibility IAGP DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461, RGD:243049248 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity IDA RGD PMID:21238444 RGD:13204804 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 susceptibility IAGP DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:23286482 PMID:21499900 RGD:243065234, RGD:268530901 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP
EXP		 DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NKX2-6 NK2 homeobox 6 susceptibility IAGP DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP
EXP		 DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:19619907 RGD:11556206 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX20 T-box transcription factor 20 IDA DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TCF21 transcription factor 21 susceptibility IAGP DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 6:133,889,113...133,895,537
Ensembl chr 6:133,889,113...133,895,553 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		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 chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CCN1 cellular communication network factor 1 ISS
ISO		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISS OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:4,803,203...4,847,288
Ensembl chr16:4,803,203...4,847,288 		JBrowse link
G IFT172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISS
IAGP		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr 3:23,945,286...23,980,617
Ensembl chr 3:23,945,286...23,980,617 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar Annotator: match by term: Atrioventricular septal defect 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition		 ClinVar
OMIM		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822 		JBrowse link
G LINC00312 long intergenic non-protein coding RNA 312 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,571,782...8,574,668 JBrowse link
G LMCD1 LIM and cysteine rich domains 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112 		JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053 		JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040 		JBrowse link
G TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011 		JBrowse link
G TATDN2 TatD DNase domain containing 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218 		JBrowse link
G THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CTSB cathepsin B IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar
OMIM		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G LOC110120689 VISTA enhancer hs508 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,746,673...11,747,186 JBrowse link
G LOC110121280 VISTA enhancer hs2204 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,699,806...11,703,497 JBrowse link
G LOC110121281 VISTA enhancer hs2205 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,739,275...11,744,047 JBrowse link
G LOC111365225 HNF4 motif-containing MPRA enhancer 121 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,718,788...11,718,932 JBrowse link
G LOC129999900 ATAC-STARR-seq lymphoblastoid silent region 18936 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,704,234...11,704,283 JBrowse link
G LOC129999901 ATAC-STARR-seq lymphoblastoid active region 27031 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,736,400...11,736,449 JBrowse link
G NEIL2 nei like DNA glycosylase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,769,710...11,787,345
Ensembl chr 8:11,769,639...11,787,345 		JBrowse link
G SNORA99 small nucleolar RNA, H/ACA box 99 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,705,362...11,705,558 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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G MIR1-2 microRNA 1-2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088 		JBrowse link
G MIR133A1 microRNA 133a-1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785 		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 IAGP 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 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 IAGP ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		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 IAGP 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 chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 ClinVar PMID:25741868 NCBI chr 5:180,619,831...180,621,030 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 IAGP DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G BIN3 bridging integrator 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,620,418...22,669,121
Ensembl chr 8:22,620,418...22,669,148 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G C8orf58 chromosome 8 open reading frame 58 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,599,599...22,604,142
Ensembl chr 8:22,599,599...22,604,150 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,604,757...22,621,514
Ensembl chr 8:22,604,757...22,620,964 		JBrowse link
G CHMP7 charged multivesicular body protein 7 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,243,637...23,261,999
Ensembl chr 8:23,243,637...23,262,000 		JBrowse link
G DMTN dematin actin binding protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,048,931...22,082,525
Ensembl chr 8:22,048,995...22,082,527 		JBrowse link
G EGR3 early growth response 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,687,659...22,693,480
Ensembl chr 8:22,687,659...22,693,480 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,429,162...23,457,647
Ensembl chr 8:23,385,783...23,457,695 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,089,150...22,104,911
Ensembl chr 8:22,089,150...22,104,911 		JBrowse link
G FOXH1 forkhead box H1 IAGP DNA:misense mutations:cds:multiple
ClinVar Annotator: match by term: Conotruncal defect		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084 		JBrowse link
G LOXL2 lysyl oxidase like 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328 		JBrowse link
G MIR320A microRNA 320a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Conotruncal cardiac defects
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP 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 chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NKX3-1 NK3 homeobox 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938 		JBrowse link
G NUDT18 nudix hydrolase 18 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,106,878...22,110,482
Ensembl chr 8:22,106,874...22,109,419 		JBrowse link
G PDLIM2 PDZ and LIM domain 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,578,741...22,598,026
Ensembl chr 8:22,578,279...22,598,025 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,713,251...22,941,077
Ensembl chr 8:22,713,251...23,000,000 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,219,703...22,232,099
Ensembl chr 8:22,219,703...22,232,101 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,275,316...22,357,568
Ensembl chr 8:22,275,316...22,357,568 		JBrowse link
G POLR3D RNA polymerase III subunit D IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,245,133...22,254,601
Ensembl chr 8:22,245,133...22,254,601 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142 		JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,288,092...23,296,279
Ensembl chr 8:23,270,120...23,296,279 		JBrowse link
G REEP4 receptor accessory protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,138,020...22,141,907
Ensembl chr 8:22,138,020...22,141,951 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,528,956...23,575,463
Ensembl chr 8:23,528,956...23,575,463 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,544,973...22,575,788
Ensembl chr 8:22,544,986...22,575,788 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX2 T-box transcription factor 2 susceptibility IAGP DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102 		JBrowse link
G TNFRSF10B TNF receptor superfamily member 10b IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031 		JBrowse link
G TNFRSF10C TNF receptor superfamily member 10c IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,102,921...23,117,445
Ensembl chr 8:23,102,921...23,117,445 		JBrowse link
G TNFRSF10D TNF receptor superfamily member 10d IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,135,588...23,164,027
Ensembl chr 8:23,135,588...23,164,027 		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 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFC1 cryptic, EGF-CFC family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11799476 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B ISS OMIM:217095 MouseDO NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G GDF1 growth differentiation factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle		 CTD
ClinVar		 PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G ISL1 ISL LIM homeobox 1 IAGP DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:21919901 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17568391 PMID:20807224 PMID:21919901 PMID:25741868 PMID:28492532 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		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 IAGP
EXP		 ClinVar Annotator: match by term: Floating-Harbor syndrome
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: SRCAP-related condition
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		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 IAGP ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		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 EXP
IAGP		 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 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		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 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B IDA DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISS OMIM:187500 MouseDO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISS OMIM:187500 MouseDO NCBI chr10:126,905,428...127,452,516
Ensembl chr10:126,905,409...127,452,517 		JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G FGF8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXC2 forkhead box C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXH1 forkhead box H1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GATA4 GATA binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA5 GATA binding protein 5 IAGP DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATA6 GATA binding protein 6 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GDF1 growth differentiation factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G GJA1 gap junction protein alpha 1 IEP RGD PMID:16010294 RGD:1582666 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HIRA histone cell cycle regulator IEP mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G INVS inversin ISS OMIM:187500 MouseDO NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... RGD:1582344 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP
ISS
EXP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NRP1 neuropilin 1 susceptibility IAGP DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262 		JBrowse link
G NTF3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G PHC1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility IAGP DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX20 T-box transcription factor 20 IDA
IEP		 DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP
ISS
EXP
IDA		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy		 ClinVar PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:25741868 More... NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		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 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar
OMIM		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		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 IAGP ClinVar Annotator: match by term: Ventricular septal defect 2 ClinVar
OMIM		 PMID:16287139 PMID:25741868 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G LOC129997307 ATAC-STARR-seq lymphoblastoid silent region 17609 IAGP ClinVar Annotator: match by term: Ventricular septal defect 2 ClinVar PMID:16287139 NCBI chr 6:139,373,357...139,373,456 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 IAGP ClinVar Annotator: match by term: Ventricular septal defect 3 ClinVar
OMIM		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97544
    Developmental Disease 35159
      congenital heart disease 2006
        heart septal defect 258
          ventricular septal defect 179
            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 2
            Ventricular Septal Defect 3 1
            atrioventricular septal defect + 71
            double outlet right ventricle + 54
            tetralogy of Fallot + 51
Path 2
Term Annotations click to browse term
  disease 97544
    Developmental Disease 35159
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28638
        Congenital Abnormalities 15073
          Cardiovascular Abnormalities 2223
            congenital heart disease 2006
              heart septal defect 258
                ventricular septal defect 179
                  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 2
                  Ventricular Septal Defect 3 1
                  atrioventricular septal defect + 71
                  double outlet right ventricle + 54
                  tetralogy of Fallot + 51
paths to the root