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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 IMP RGD PMID:22536403 RGD:329337340 NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		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 chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IMP RGD PMID:16687131 RGD:155663670 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gata5 GATA binding protein 5 ISO
IMP		 DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22961344 PMID:22536403 RGD:155260356, RGD:329337340 NCBI chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461, RGD:243049248 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:23286482 PMID:21499900 RGD:243065234, RGD:268530901 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		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 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G Robo1 roundabout guidance receptor 1 IMP RGD PMID:25691540 RGD:243048427 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G Robo2 roundabout homolog 2 (Drosophila) IGI RGD PMID:25691540 RGD:243048427 NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,889,765 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Sall4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:19619907 RGD:11556206 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
G Slit2 slit guidance ligand 2 IMP RGD PMID:25691540 RGD:243048427 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		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 chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Tbx1 T-box 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbx20 T-box 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599 		JBrowse link
G Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 IMP RGD PMID:25196150 RGD:155882481 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Ccn1 cellular communication network factor 1 IAGP
IMP		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) IAGP OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:4,831,766...4,867,780
Ensembl chr16:4,831,773...4,867,727 		JBrowse link
G Ift172 intraflagellar transport 172 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 IAGP
ISO		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr14:4,230,549...4,265,639
Ensembl chr14:4,230,569...4,265,642 		JBrowse link
G Shh sonic hedgehog IMP RGD PMID:19538633 RGD:12801428 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		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 chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G Tbx5 T-box 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr 5:119,934,581...120,023,285
Ensembl chr 5:119,970,733...120,023,284 		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 chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821 		JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
G Cpne9 copine family member IX ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588 		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 chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Ghrl ghrelin ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
G Grm7 glutamate receptor, metabotropic 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:110,622,304...111,544,191
Ensembl chr 6:110,622,542...111,544,191 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G Lhfpl4 lipoma HMGIC fusion partner-like protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,145,048...113,172,345
Ensembl chr 6:113,145,051...113,172,345 		JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,250,747...112,307,384
Ensembl chr 6:112,250,719...112,307,386 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892 		JBrowse link
G Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,596,812...112,673,650
Ensembl chr 6:112,596,811...112,673,647 		JBrowse link
G Rpusd3 RNA pseudouridylate synthase domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301 		JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		JBrowse link
G Slc6a11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,694,932...112,924,466
Ensembl chr 6:112,694,932...112,924,227 		JBrowse link
G Ssu2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,336,283...112,365,160
Ensembl chr 6:112,336,285...112,364,984 		JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844 		JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234 		JBrowse link
G Ttll3 tubulin tyrosine ligase-like family, member 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blk B lymphoid kinase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,610,286...63,654,636
Ensembl chr14:63,610,285...63,654,486 		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 chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,382,599...63,419,136
Ensembl chr14:63,382,599...63,417,027 		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 chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Neil2 nei like 2 (E. coli) ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,419,888...63,431,604
Ensembl chr14:63,419,892...63,431,305 		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 chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704 		JBrowse link
G Mir133a-1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,782,909...10,782,976
Ensembl chr18:10,782,909...10,782,976 		JBrowse link
G Mir1a-2 microRNA 1a-2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,785,481...10,785,552
Ensembl chr18:10,785,481...10,785,552 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		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 chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		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-like 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 chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9930012K11Rik RIKEN cDNA 9930012K11 gene ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,391,854...70,396,951
Ensembl chr14:70,391,854...70,396,951 		JBrowse link
G Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,337,538...70,375,413
Ensembl chr14:70,337,554...70,375,655 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674 		JBrowse link
G Ccar2 cell cycle activator and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,375,617...70,391,272
Ensembl chr14:70,375,613...70,391,260 		JBrowse link
G Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,954,428...69,970,019
Ensembl chr14:69,954,449...69,969,990 		JBrowse link
G Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,839,624...70,873,488
Ensembl chr14:70,838,703...70,873,418 		JBrowse link
G Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,314,766...70,320,062
Ensembl chr14:70,314,652...70,320,063 		JBrowse link
G Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,574,600...69,604,191
Ensembl chr14:69,574,623...69,604,719 		JBrowse link
G Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,873,643...70,880,064
Ensembl chr14:70,873,643...70,879,708 		JBrowse link
G Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,820,733...70,837,309
Ensembl chr14:70,820,736...70,837,275 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		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 chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988 		JBrowse link
G Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,765,982...70,775,764
Ensembl chr14:70,768,125...70,775,764 		JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283 		JBrowse link
G Mir320 microRNA 320 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031 		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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		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 chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		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 chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		JBrowse link
G Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111 		JBrowse link
G Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,815,264...70,820,128
Ensembl chr14:70,815,077...70,820,128 		JBrowse link
G Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,401,667...70,415,140
Ensembl chr14:70,401,667...70,415,130 		JBrowse link
G Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,077,856...70,297,367
Ensembl chr14:70,077,869...70,297,367 		JBrowse link
G Phyhip phytanoyl-CoA hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,694,957...70,706,266
Ensembl chr14:70,694,916...70,706,272 		JBrowse link
G Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,609,926...70,674,338
Ensembl chr14:70,609,926...70,666,832 		JBrowse link
G Polr3d polymerase (RNA) III (DNA directed) polypeptide D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,676,188...70,680,911
Ensembl chr14:70,676,197...70,680,887 		JBrowse link
G Ppp3cc protein phosphatase 3, catalytic subunit, gamma isoform ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920 		JBrowse link
G R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,934,753...69,952,258
Ensembl chr14:69,934,756...69,945,033 		JBrowse link
G Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,782,666...70,786,375
Ensembl chr14:70,782,691...70,786,373 		JBrowse link
G Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,022,439...70,062,296
Ensembl chr14:70,022,439...70,043,085 		JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Slc25a37 solute carrier family 25, member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,479,297...69,522,993
Ensembl chr14:69,479,297...69,522,561 		JBrowse link
G Slc39a14 solute carrier family 39 (zinc transporter), member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874 		JBrowse link
G Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,417,917...70,449,472
Ensembl chr14:70,417,917...70,449,438 		JBrowse link
G Tbx1 T-box 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 chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbx2 T-box 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		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 chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Cfc1 cryptic, EGF-CFC family member 1 IAGP OMIM:217095 MouseDO NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 susceptibility IMP RGD PMID:34859965 RGD:155663381 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Ece1 endothelin converting enzyme 1 IAGP OMIM:217095 MouseDO NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle		 CTD
ClinVar		 PMID:17924340 PMID:25741868 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Setd5 SET domain containing 5 IMP RGD PMID:34050709 RGD:155794379 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome		 CTD
ClinVar		 PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		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 chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Bmp10 bone morphogenetic protein 10 IAGP OMIM:187500 MouseDO NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Cfc1 cryptic, EGF-CFC family member 1 ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP OMIM:187500 MouseDO NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		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 chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 IAGP OMIM:187500 MouseDO NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G Dock1 dedicator of cytokinesis 1 IAGP OMIM:187500 MouseDO NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Fgf8 fibroblast growth factor 8 IAGP OMIM:187500 MouseDO NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Flnc filamin C, gamma ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		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 chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Gata6 GATA binding protein 6 ISO 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 chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO
IAGP		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668 		JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 IAGP OMIM:187500 MouseDO NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797 		JBrowse link
G Hira histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		JBrowse link
G Invs inversin IAGP OMIM:187500 MouseDO NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954 		JBrowse link
G Irx4 Iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G Jag1 jagged 1 ISO 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 chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 IAGP OMIM:187500 MouseDO NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
IAGP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism
OMIM:187500		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844 		JBrowse link
G Ntf3 neurotrophin 3 IAGP OMIM:187500 MouseDO NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Phc1 polyhomeotic 1 IAGP OMIM:187500 MouseDO NCBI chr 6:122,294,690...122,317,551
Ensembl chr 6:122,294,690...122,317,520 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		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 chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		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 chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G Tbx1 T-box 1 ISO 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 chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tbx20 T-box 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599 		JBrowse link
G Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		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 chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		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 chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Irx4 Iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		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 chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		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 chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16177
    Developmental Disease 13928
      congenital heart disease 1391
        heart septal defect 220
          ventricular septal defect 161
            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 + 48
            tetralogy of Fallot + 48
Path 2
Term Annotations click to browse term
  disease 16177
    Developmental Disease 13928
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12950
        Congenital Abnormalities 7797
          Cardiovascular Abnormalities 1593
            congenital heart disease 1391
              heart septal defect 220
                ventricular septal defect 161
                  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 + 48
                  tetralogy of Fallot + 48
paths to the root