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ONTOLOGY REPORT - ANNOTATIONS


Term:heart septal defect
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Accession:DOID:1681 term browser browse the term
Definition:Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.
Synonyms:exact_synonym: Cardiac Septal Defects;   Congenital septal defect of heart;   congenital heart septal defects;   heart septal defects;   septal defect
 primary_id: MESH:D006343;   RDO:0003310
 xref: NCI:C84482
For additional species annotation, visit the Alliance of Genome Resources.


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heart septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr2 bone morphogenetic protein receptor type 2 JBrowse link 9 66,568,074 66,683,019 RGD:5129230
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:11554173
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:1600967
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7244247
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:1581130
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:12910561
atrial heart septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13442496
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7207050
RGD:8554872
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:1580922
RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:12914794
RGD:8554872
RGD:12914795
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:11554173
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
atrial heart septal defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccn1 cellular communication network factor 1 JBrowse link 2 251,529,354 251,532,312 RGD:13592920
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:13592920
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
atrial heart septal defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
atrial heart septal defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872
atrial heart septal defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx20 T-box transcription factor 20 JBrowse link 8 25,849,394 25,904,570 RGD:7240710
RGD:8554872
atrial heart septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
atrial heart septal defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tll1 tolloid-like 1 JBrowse link 16 27,399,467 27,597,240 RGD:7240710
RGD:8554872
atrial heart septal defect 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
atrial heart septal defect 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:7240710
RGD:8554872
atrial heart septal defect 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
atrioventricular septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Ccn1 cellular communication network factor 1 JBrowse link 2 251,529,354 251,532,312 RGD:13592920
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:13592920
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:13592920
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:11554173
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:13592920
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:13592920
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 JBrowse link 15 8,730,871 8,757,165 RGD:13592920
RGD:8554872
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801428
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
Atrioventricular Septal Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:8554872
RGD:7240710
Atrioventricular Septal Defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8554872
RGD:7240710
Atrioventricular Septal Defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
atrioventricular septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Slc66a2 solute carrier family 66 member 2 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
CHOPS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:8554872
RGD:7240710
Common Ventricle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
Conotruncal Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Add1 adducin 1 JBrowse link 14 81,367,466 81,426,610 RGD:5147996
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565174
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872
G Nkx2-6 NK2 homeobox 6 JBrowse link 15 51,034,620 51,038,715 RGD:8554872
RGD:7240710
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
double outlet right ventricle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
G Cfc1 cripto, FRL-1, cryptic family 1 JBrowse link 9 41,045,352 41,051,979 RGD:13592920
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:13592920
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:13592920
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
RGD:11554173
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:13592920
G Nkx2-6 NK2 homeobox 6 JBrowse link 15 51,034,620 51,038,715 RGD:13592920
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:13592920
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase JBrowse link 9 121,802,471 121,918,906 RGD:11554173
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:8554872
Dursun Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc3 glucose 6 phosphatase catalytic subunit 3 JBrowse link 10 90,134,193 90,138,425 RGD:8554872
Endocardial Cushion Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
Floating-Harbor Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:7240710
RGD:8554872
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smg9 SMG9 nonsense mediated mRNA decay factor JBrowse link 1 81,259,450 81,282,893 RGD:8554872
RGD:7240710
Holt-Oram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyplal1 lysophospholipase-like 1 JBrowse link 13 104,049,263 104,080,680 RGD:8554872
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556209
RGD:11554173
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:7240710
RGD:8554872
RGD:11554173
RGD:1578428
RGD:7327219
RGD:7327217
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:7240710
RGD:8554872
RGD:11554173
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:11554173
RGD:8554872
patent foramen ovale term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf213 ring finger protein 213 JBrowse link 10 108,527,351 108,626,372 RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
Persistent Truncus Arteriosus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:8554872
G Nkx2-6 NK2 homeobox 6 JBrowse link 15 51,034,620 51,038,715 RGD:8554872
G Sema3c semaphorin 3C JBrowse link 4 14,318,276 14,490,438 RGD:11554173
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
Ritscher-Schinzel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:11554173
G Dpysl5 dihydropyrimidinase-like 5 JBrowse link 6 26,939,696 27,024,129 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
RGD:11554173
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:7240710
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc22 coiled-coil domain containing 22 JBrowse link X 15,742,978 15,754,925 RGD:7240710
RGD:8554872
tetralogy of Fallot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Bmp10 bone morphogenetic protein 10 JBrowse link 4 119,224,906 119,230,534 RGD:13592920
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:13592920
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:13592920
G Flt4 fms-related tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:11554173
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:11554173
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:11554173
RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1582666
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:7207464
RGD:13592920
G Hand2 heart and neural crest derivatives expressed 2 JBrowse link 16 36,371,489 36,373,551 RGD:11554173
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:13592920
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:13592920
G Irx4 iroquois homeobox 4 JBrowse link 1 32,634,774 32,645,151 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:1582344
RGD:8554872
RGD:11554173
RGD:7240710
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:13592920
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910957
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565105
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:1581133
RGD:8554872
RGD:7240710
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:13592920
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:13592920
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:12743641
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:1580641
RGD:8554872
RGD:7240710
ventricular septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aar2 AAR2 splicing factor JBrowse link 3 152,626,738 152,648,365 RGD:8554872
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:8554872
G Acot1 acyl-CoA thioesterase 1 JBrowse link 6 107,485,088 107,493,082 RGD:8554872
G Acot2 acyl-CoA thioesterase 2 JBrowse link 6 107,460,596 107,468,324 RGD:8554872
G Acot4 acyl-CoA thioesterase 4 JBrowse link 6 107,517,668 107,522,952 RGD:8554872
G Acot6 acyl-CoA thioesterase 6 JBrowse link 6 107,581,357 107,590,431 RGD:8554872
G Acyp1 acylphosphatase 1 JBrowse link 6 109,097,065 109,110,266 RGD:8554872
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:8554872
G Angel1 angel homolog 1 JBrowse link 6 110,644,327 110,681,397 RGD:8554872
G Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 JBrowse link 6 108,630,790 108,796,096 RGD:8554872
G Batf basic leucine zipper ATF-like transcription factor JBrowse link 6 109,562,415 109,584,541 RGD:8554872
G Bbof1 basal body orientation factor 1 JBrowse link 6 108,123,855 108,149,613 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Cipc CLOCK-interacting pacemaker JBrowse link 6 110,968,014 110,990,912 RGD:8554872
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:11554173
G Coq6 coenzyme Q6 monooxygenase JBrowse link 6 108,076,393 108,087,782 RGD:8554872
G Dcaf4 DDB1 and CUL4 associated factor 4 JBrowse link 6 107,001,763 107,027,466 RGD:8554872
G Dlst dihydrolipoamide S-succinyltransferase JBrowse link 6 108,936,534 108,961,322 RGD:8554872
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Dpf3 double PHD fingers 3 JBrowse link 6 106,660,569 106,971,310 RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:8554872
G Elmsan1 ELM2 and Myb/SANT domain containing 1 JBrowse link 6 107,633,762 107,703,462 RGD:8554872
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 JBrowse link 6 108,087,677 108,123,811 RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Erg28 ergosterol biosynthesis 28 homolog JBrowse link 6 109,683,252 109,692,218 RGD:8554872
G Esrrb estrogen-related receptor beta JBrowse link 6 110,360,940 110,458,406 RGD:8554872
G Fam161b FAM161 centrosomal protein B JBrowse link 6 108,060,019 108,076,303 RGD:8554872
G Fcf1 FCF1 rRNA-processing protein JBrowse link 6 108,796,182 108,808,051 RGD:8554872
G Flvcr2 feline leukemia virus subgroup C cellular receptor family, member 2 JBrowse link 6 109,617,348 109,681,495 RGD:8554872
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:8554872
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:8554872
G Foxp4 forkhead box P4 JBrowse link 9 15,068,378 15,124,962 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:11554173
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:13208872
RGD:13208873
G Gpatch2l G patch domain containing 2-like JBrowse link 6 110,093,767 110,228,943 RGD:8554872
G Heatr4 HEAT repeat containing 4 JBrowse link 6 107,423,214 107,460,450 RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:13204804
G Irf2bpl interferon regulatory factor 2 binding protein-like JBrowse link 6 110,901,940 110,904,288 RGD:8554872
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:8554872
G Jdp2 Jun dimerization protein 2 JBrowse link 6 109,464,910 109,505,591 RGD:8554872
G Lin52 lin-52 DREAM MuvB core complex component JBrowse link 6 108,167,412 108,264,459 RGD:8554872
G Lrrc74a leucine rich repeat containing 74A JBrowse link 6 110,681,551 110,776,904 RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204804
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:12914792
RGD:11554173
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Numb NUMB, endocytic adaptor protein JBrowse link 6 107,279,917 107,325,345 RGD:8554872
G Papln papilin, proteoglycan-like sulfated glycoprotein JBrowse link 6 107,245,573 107,282,256 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:8554872
G Pnma1 PNMA family member 1 JBrowse link 6 107,631,227 107,633,012 RGD:8554872
G Prox2 prospero homeobox 2 JBrowse link 6 108,911,705 108,920,767 RGD:8554872
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872
G Ptgr2 prostaglandin reductase 2 JBrowse link 6 107,999,832 108,031,645 RGD:8554872
G Rbm25 RNA binding motif protein 25 JBrowse link 6 107,117,888 107,165,538 RGD:8554872
G Riox1 ribosomal oxygenase 1 JBrowse link 6 107,428,508 107,431,126 RGD:8554872
G Rps6kl1 ribosomal protein S6 kinase-like 1 JBrowse link 6 108,961,253 108,977,970 RGD:8554872
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:11556206
RGD:11554173
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Syndig1l synapse differentiation inducing 1-like JBrowse link 6 108,392,837 108,415,187 RGD:8554872
G Tbx5 T-box transcription factor 5 JBrowse link 12 42,059,688 42,148,226 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tmed10 transmembrane p24 trafficking protein 10 JBrowse link 6 109,169,739 109,205,004 RGD:8554872
G Tmem63c transmembrane protein 63c JBrowse link 6 111,044,099 111,120,659 RGD:8554872
G Ttll5 tubulin tyrosine ligase like 5 JBrowse link 6 109,693,915 109,910,479 RGD:8554872
G Vash1 vasohibin 1 JBrowse link 6 110,624,377 110,640,942 RGD:8554872
G Vrtn vertebrae development associated JBrowse link 6 108,363,454 108,366,119 RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
G Yes1 YES proto-oncogene 1, Src family tyrosine kinase JBrowse link 9 121,802,471 121,918,906 RGD:11554173
G Ylpm1 YLP motif containing 1 JBrowse link 6 108,820,774 108,897,209 RGD:8554872
G Zc2hc1c zinc finger, C2HC-type containing 1C JBrowse link 6 109,110,534 109,119,458 RGD:8554872
G Zdhhc22 zinc finger, DHHC-type containing 22 JBrowse link 6 111,008,440 111,015,695 RGD:8554872
G Zfp410 zinc finger protein 410 JBrowse link 6 108,031,747 108,058,836 RGD:8554872
G Zfyve1 zinc finger FYVE-type containing 1 JBrowse link 6 107,031,411 107,080,590 RGD:8554872
Ventricular Septal Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
Ventricular Septal Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:7240710
RGD:8554872
Ventricular Septal Defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital heart disease 850
        heart septal defect 171
          Aortopulmonary Septal Defect + 7
          CHOPS SYNDROME 1
          Cardiac Septal Defects with Coarctation of the Aorta 0
          Endocardial Cushion Defects 1
          HEART AND BRAIN MALFORMATION SYNDROME 1
          Microphthalmia, Syndromic 2 1
          Pulmonary Atresia with Ventricular Septal Defect 1
          atrial heart septal defect + 58
          ventricular septal defect + 126
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Cardiovascular Abnormalities 903
            congenital heart disease 850
              heart septal defect 171
                Aortopulmonary Septal Defect + 7
                CHOPS SYNDROME 1
                Cardiac Septal Defects with Coarctation of the Aorta 0
                Endocardial Cushion Defects 1
                HEART AND BRAIN MALFORMATION SYNDROME 1
                Microphthalmia, Syndromic 2 1
                Pulmonary Atresia with Ventricular Septal Defect 1
                atrial heart septal defect + 58
                ventricular septal defect + 126
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.