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ONTOLOGY REPORT - ANNOTATIONS


Term:Atrial septal defect
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Accession:HP:0001631 term browser browse the term
Definition:Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Synonyms:exact_synonym: ASD;   An opening in the wall separating the top two chambers of the heart;   Atria septal defect;   Atrial septum defect;   Defect in the atrial septum;   Hole in heart wall separating two upper heart chambers
 alt_id: HP:0001630
 xref: Fyler:2050;   ICD-10:Q21.1;   MSH:D006344;   SNOMEDCT_US:253366007;   SNOMEDCT_US:405752007;   SNOMEDCT_US:70142008;   UMLS:C0018817


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Atrial septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCD4 ATP binding cassette subfamily D member 4 JBrowse link 14 74,285,269 74,303,062 RGD:8699517
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 9 130,713,881 130,887,675 RGD:8699517
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 15 34,790,230 34,795,549 RGD:8699517
G ADK adenosine kinase JBrowse link 10 74,151,185 74,709,303 RGD:8699517
G AGGF1 angiogenic factor with G-patch and FHA domains 1 JBrowse link 5 77,030,404 77,065,234 RGD:8699517
G AMER1 APC membrane recruitment protein 1 JBrowse link X 64,185,117 64,205,708 RGD:8699517
G ANK1 ankyrin 1 JBrowse link 8 41,653,225 41,896,741 RGD:8699517
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,420,714 RGD:8699517
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:8699517
G ARID2 AT-rich interaction domain 2 JBrowse link 12 45,729,706 45,908,037 RGD:8699517
G ARVCF ARVCF delta catenin family member JBrowse link 22 19,966,727 20,016,823 RGD:8699517
G ASXL1 ASXL transcriptional regulator 1 JBrowse link 20 32,358,062 32,439,319 RGD:8699517
G ASXL2 ASXL transcriptional regulator 2 JBrowse link 2 25,733,753 25,878,487 RGD:8699517
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 2 215,311,974 215,359,745 RGD:8699517
G ATP6V1A ATPase H+ transporting V1 subunit A JBrowse link 3 113,747,035 113,812,056 RGD:8699517
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 JBrowse link 22 17,592,136 17,628,822 RGD:8699517
G AUTS2 activator of transcription and developmental regulator AUTS2 JBrowse link 7 69,598,475 70,793,506 RGD:8699517
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 1 1,232,237 1,235,041 RGD:8699517
G B3GLCT beta 3-glucosyltransferase JBrowse link 13 31,199,975 31,332,276 RGD:8699517
G BAZ1B bromodomain adjacent to zinc finger domain 1B JBrowse link 7 73,440,406 73,522,293 RGD:8699517
G BBS2 Bardet-Biedl syndrome 2 JBrowse link 16 56,470,403 56,520,095 RGD:8699517
G BCOR BCL6 corepressor JBrowse link X 40,051,246 40,177,390 RGD:8699517
G BCR BCR activator of RhoGEF and GTPase JBrowse link 22 23,180,509 23,318,037 RGD:8699517
G BMP2 bone morphogenetic protein 2 JBrowse link 20 6,767,686 6,780,246 RGD:8699517
G BMPR1A bone morphogenetic protein receptor type 1A JBrowse link 10 86,755,786 86,927,969 RGD:8699517
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,331 140,924,929 RGD:8699517
G BRCA1 BRCA1 DNA repair associated JBrowse link 17 43,044,295 43,125,364 RGD:8699517
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,315,480 32,399,672 RGD:8699517
G BRIP1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 17 61,679,139 61,864,120 RGD:8699517
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase JBrowse link 2 110,637,528 110,678,107 RGD:8699517
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 15 40,161,069 40,221,123 RGD:8699517
G BUB3 BUB3 mitotic checkpoint protein JBrowse link 10 123,154,244 123,170,467 RGD:8699517
G C2CD3 C2 domain containing 3 centriole elongation regulator JBrowse link 11 74,012,578 74,171,210 RGD:8699517
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 59,430,939 59,698,181 RGD:8699517
G CCDC22 coiled-coil domain containing 22 JBrowse link X 49,235,470 49,250,526 RGD:8699517
G CDC45 cell division cycle 45 JBrowse link 22 19,479,294 19,520,612 RGD:8699517
G CDK10 cyclin dependent kinase 10 JBrowse link 16 89,686,612 89,696,354 RGD:8699517
G CDK13 cyclin dependent kinase 13 JBrowse link 7 39,949,664 40,099,580 RGD:8699517
G CEP290 centrosomal protein 290 JBrowse link 12 88,049,013 88,142,216 RGD:8699517
G CEP57 centrosomal protein 57 JBrowse link 11 95,790,461 95,832,693 RGD:8699517
G CHD4 chromodomain helicase DNA binding protein 4 JBrowse link 12 6,570,082 6,607,379 RGD:8699517
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 8 60,678,740 60,868,028 RGD:8699517
G CHRM3 cholinergic receptor muscarinic 3 JBrowse link 1 239,386,565 239,915,450 RGD:8699517
G CHST14 carbohydrate sulfotransferase 14 JBrowse link 15 40,470,984 40,473,158 RGD:8699517
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 6 139,371,807 139,374,648 RGD:8699517
G CLIP2 CAP-Gly domain containing linker protein 2 JBrowse link 7 74,289,407 74,405,943 RGD:8699517
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:8699517
G COL5A1 collagen type V alpha 1 chain JBrowse link 9 134,641,789 134,844,843 RGD:8699517
G COL5A2 collagen type V alpha 2 chain JBrowse link 2 189,031,898 189,225,301 RGD:8699517
G COMT catechol-O-methyltransferase JBrowse link 22 19,941,772 19,969,975 RGD:8699517
G COX7B cytochrome c oxidase subunit 7B JBrowse link X 77,899,468 77,907,376 RGD:8699517
G CPLX1 complexin 1 JBrowse link 4 784,957 826,129 RGD:8699517
G CREBBP CREB binding protein JBrowse link 16 3,725,054 3,880,727 RGD:8699517
G CRKL CRK like proto-oncogene, adaptor protein JBrowse link 22 20,917,407 20,953,747 RGD:8699517
G CTBP1 C-terminal binding protein 1 JBrowse link 4 1,211,444 1,253,919 RGD:8699517
G CTCF CCCTC-binding factor JBrowse link 16 67,562,526 67,639,185 RGD:8699517
G CTU2 cytosolic thiouridylase subunit 2 JBrowse link 16 88,706,481 88,715,396 RGD:8699517
G DACT1 dishevelled binding antagonist of beta catenin 1 JBrowse link 14 58,634,061 58,648,321 RGD:8699517
G DHCR7 7-dehydrocholesterol reductase JBrowse link 11 71,434,411 71,448,393 RGD:8699517
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2 25,227,874 25,342,590 RGD:8699517
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 2 43,774,039 43,828,320 RGD:8699517
G ECE1 endothelin converting enzyme 1 JBrowse link 1 21,217,250 21,345,504 RGD:8699517
G EFTUD2 elongation factor Tu GTP binding domain containing 2 JBrowse link 17 44,849,948 44,899,625 RGD:8699517
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8699517
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,220 69,013,961 RGD:8699517
G EP300 E1A binding protein p300 JBrowse link 22 41,092,592 41,180,077 RGD:8699517
G EPHB4 EPH receptor B4 JBrowse link 7 100,802,565 100,827,523 RGD:8699517
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 13,920,137 13,952,348 RGD:8699517
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 JBrowse link 8 27,771,949 27,812,430 RGD:8699517
G EVC EvC ciliary complex subunit 1 JBrowse link 4 5,711,199 5,829,043 RGD:8699517
G EVC2 EvC ciliary complex subunit 2 JBrowse link 4 5,562,408 5,709,548 RGD:8699517
G FANCA FA complementation group A JBrowse link 16 89,737,549 89,816,647 RGD:8699517
G FANCB FA complementation group B JBrowse link X 14,690,863 14,873,255 RGD:8699517
G FANCC FA complementation group C JBrowse link 9 95,099,054 95,317,730 RGD:8699517
G FANCD2 FA complementation group D2 JBrowse link 3 10,026,437 10,101,932 RGD:8699517
G FANCE FA complementation group E JBrowse link 6 35,452,338 35,467,106 RGD:8699517
G FANCF FA complementation group F JBrowse link 11 22,622,533 22,625,823 RGD:8699517
G FANCG FA complementation group G JBrowse link 9 35,073,839 35,079,942 RGD:8699517
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8699517
G FANCL FA complementation group L JBrowse link 2 58,159,243 58,241,681 RGD:8699517
G FANCM FA complementation group M JBrowse link 14 45,135,930 45,200,890 RGD:8699517
G FBN2 fibrillin 2 JBrowse link 5 128,257,909 128,538,245 RGD:8699517
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:8699517
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,293 1,808,872 RGD:8699517
G FGFRL1 fibroblast growth factor receptor like 1 JBrowse link 4 1,009,930 1,026,898 RGD:8699517
G FIG4 FIG4 phosphoinositide 5-phosphatase JBrowse link 6 109,691,296 109,825,431 RGD:8699517
G FKTN fukutin JBrowse link 9 105,558,117 105,655,950 RGD:8699517
G FLNB filamin B JBrowse link 3 58,008,422 58,172,251 RGD:8699517
G FOXC1 forkhead box C1 JBrowse link 6 1,609,915 1,613,897 RGD:8699517
G FOXF1 forkhead box F1 JBrowse link 16 86,510,527 86,515,422 RGD:8699517
G G6PC3 glucose-6-phosphatase catalytic subunit 3 JBrowse link 17 44,070,700 44,076,344 RGD:8699517
G GATA4 GATA binding protein 4 JBrowse link 8 11,676,931 11,760,002 RGD:8699517
G GATA5 GATA binding protein 5 JBrowse link 20 62,463,497 62,475,995 RGD:8699517
G GATA6 GATA binding protein 6 JBrowse link 18 22,169,437 22,202,528 RGD:8699517
G GDF1 growth differentiation factor 1 JBrowse link 19 18,868,545 18,896,158 RGD:8699517
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,646 121,449,727 RGD:8699517
G GLI1 GLI family zinc finger 1 JBrowse link 12 57,459,785 57,472,451 RGD:8699517
G GLI3 GLI family zinc finger 3 JBrowse link 7 41,960,949 42,237,209 RGD:8699517
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 22 19,723,539 19,724,771 RGD:8699517
G GPC3 glypican 3 JBrowse link X 133,535,745 133,985,616 RGD:8699517
G GPC4 glypican 4 JBrowse link X 133,300,103 133,415,489 RGD:8699517
G GPC6 glypican 6 JBrowse link 13 93,226,807 94,408,020 RGD:8699517
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,103,994 1,106,779 RGD:8699517
G GTF2I general transcription factor IIi JBrowse link 7 74,657,665 74,760,692 RGD:8699517
G GTF2IRD1 GTF2I repeat domain containing 1 JBrowse link 7 74,453,906 74,603,070 RGD:8699517
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase JBrowse link 2 42,767,087 42,801,002 RGD:8699517
G HCCS holocytochrome c synthase JBrowse link X 11,111,332 11,123,086 RGD:8699517
G HDAC8 histone deacetylase 8 JBrowse link X 72,329,516 72,573,103 RGD:8699517
G HIRA histone cell cycle regulator JBrowse link 22 19,330,698 19,431,733 RGD:8699517
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 532,242 535,576 RGD:8699517
G HSPA9 heat shock protein family A (Hsp70) member 9 JBrowse link 5 138,553,756 138,575,401 RGD:8699517
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,822,244 21,937,310 RGD:8699517
G IRX5 iroquois homeobox 5 JBrowse link 16 54,930,865 54,934,485 RGD:8699517
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,673,999 RGD:8699517
G JMJD1C jumonji domain containing 1C JBrowse link 10 63,167,221 63,521,890 RGD:8699517
G KANSL1 KAT8 regulatory NSL complex subunit 1 JBrowse link 17 46,027,335 46,225,374 RGD:8699517
G KAT6A lysine acetyltransferase 6A JBrowse link 8 41,929,479 42,051,988 RGD:8699517
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,624 RGD:8699517
G KDM5B lysine demethylase 5B JBrowse link 1 202,724,495 202,809,470 RGD:8699517
G KDM6A lysine demethylase 6A JBrowse link X 44,873,175 45,112,779 RGD:8699517
G KIAA0586 KIAA0586 JBrowse link 14 58,427,385 58,551,297 RGD:8699517
G KIF11 kinesin family member 11 JBrowse link 10 92,593,130 92,655,395 RGD:8699517
G KIF15 kinesin family member 15 JBrowse link 3 44,761,740 44,853,274 RGD:8699517
G KMT2A lysine methyltransferase 2A JBrowse link 11 118,436,492 118,526,832 RGD:8699517
G KMT2D lysine methyltransferase 2D JBrowse link 12 49,018,975 49,060,884 RGD:8699517
G LARP7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 4 112,636,964 112,657,592 RGD:8699517
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 4 1,811,479 1,856,156 RGD:8699517
G LIMK1 LIM domain kinase 1 JBrowse link 7 74,083,804 74,122,525 RGD:8699517
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8699517
G LONP1 lon peptidase 1, mitochondrial JBrowse link 19 5,691,834 5,720,452 RGD:8699517
G LYST lysosomal trafficking regulator JBrowse link 1 235,661,031 235,883,713 RGD:8699517
G MAD2L2 mitotic arrest deficient 2 like 2 JBrowse link 1 11,674,480 11,691,621 RGD:8699517
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,912 66,491,544 RGD:8699517
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 19 4,090,321 4,124,184 RGD:8699517
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 22 21,759,657 21,867,680 RGD:8699517
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 187,216,085 187,293,529 RGD:8699517
G MED12 mediator complex subunit 12 JBrowse link X 71,118,596 71,142,450 RGD:8699517
G MEGF8 multiple EGF like domains 8 JBrowse link 19 42,325,635 42,378,765 RGD:8699517
G MEIS2 Meis homeobox 2 JBrowse link 15 36,889,204 37,101,311 RGD:8699517
G MKKS McKusick-Kaufman syndrome JBrowse link 20 10,401,009 10,434,239 RGD:8699517
G MLXIPL MLX interacting protein like JBrowse link 7 73,593,201 73,624,522 RGD:8699517
G MMP14 matrix metallopeptidase 14 JBrowse link 14 22,836,585 22,847,758 RGD:8699517
G MMP2 matrix metallopeptidase 2 JBrowse link 16 55,478,830 55,506,691 RGD:8699517
G MMP21 matrix metallopeptidase 21 JBrowse link 10 125,766,453 125,775,821 RGD:8699517
G MRAS muscle RAS oncogene homolog JBrowse link 3 138,347,648 138,405,535 RGD:8699517
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,740 23,435,677 RGD:8699517
G MYRF myelin regulatory factor JBrowse link 11 61,752,617 61,788,518 RGD:8699517
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,929,225 153,935,037 RGD:8699517
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8699517
G NEK1 NIMA related kinase 1 JBrowse link 4 169,392,809 169,612,629 RGD:8699517
G NEK9 NIMA related kinase 9 JBrowse link 14 75,079,353 75,127,637 RGD:8699517
G NELFA negative elongation factor complex member A JBrowse link 4 1,982,717 2,041,914 RGD:8699517
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2 177,230,303 177,265,131 RGD:8699517
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8699517
G NIPBL NIPBL cohesin loading factor JBrowse link 5 36,876,769 37,066,413 RGD:8699517
G NKX2-1 NK2 homeobox 1 JBrowse link 14 36,516,397 36,520,232 RGD:8699517
G NKX2-5 NK2 homeobox 5 JBrowse link 5 173,232,109 173,235,321 RGD:8699517
G NODAL nodal growth differentiation factor JBrowse link 10 70,431,936 70,447,948 RGD:8699517
G NOTCH2 notch receptor 2 JBrowse link 1 119,911,553 120,069,703 RGD:8699517
G NPHP3 nephrocystin 3 JBrowse link 3 132,680,609 132,722,409 RGD:8699517
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:8699517
G NSD2 nuclear receptor binding SET domain protein 2 JBrowse link 4 1,871,393 1,982,207 RGD:8699517
G NXN nucleoredoxin JBrowse link 17 799,310 979,776 RGD:8699517
G OTUD6B OTU deubiquitinase 6B JBrowse link 8 91,070,305 91,087,095 RGD:8699517
G PALB2 partner and localizer of BRCA2 JBrowse link 16 23,603,162 23,641,337 RGD:8699517
G PAX3 paired box 3 JBrowse link 2 222,199,887 222,298,998 RGD:8699517
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:8699517
G PEX19 peroxisomal biogenesis factor 19 JBrowse link 1 160,276,809 160,285,151 RGD:8699517
G PIEZO1 piezo type mechanosensitive ion channel component 1 JBrowse link 16 88,715,338 88,785,220 RGD:8699517
G PIGA phosphatidylinositol glycan anchor biosynthesis class A JBrowse link X 15,319,451 15,335,554 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,085,496 35,096,601 RGD:8699517
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 JBrowse link 19 18,153,163 18,170,532 RGD:8699517
G POLA1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 24,693,877 24,996,986 RGD:8699517
G POR cytochrome p450 oxidoreductase JBrowse link 7 75,915,155 75,986,855 RGD:8699517
G PQBP1 polyglutamine binding protein 1 JBrowse link X 48,897,862 48,903,145 RGD:8699517
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,625 87,971,930 RGD:8699517
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,915 112,509,918 RGD:8699517
G RAB23 RAB23, member RAS oncogene family JBrowse link 6 57,186,992 57,222,314 RGD:8699517
G RAD21 RAD21 cohesin complex component JBrowse link 8 116,845,934 116,874,776 RGD:8699517
G RAD51 RAD51 recombinase JBrowse link 15 40,694,774 40,732,340 RGD:8699517
G RAD51C RAD51 paralog C JBrowse link 17 58,692,140 58,735,611 RGD:8699517
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,583,601 12,664,201 RGD:8699517
G RBM10 RNA binding motif protein 10 JBrowse link X 47,145,196 47,186,815 RGD:8699517
G RBM8A RNA binding motif protein 8A JBrowse link 1 145,921,556 145,927,484 RGD:8699517
G RFC2 replication factor C subunit 2 JBrowse link 7 74,231,502 74,254,458 RGD:8699517
G RFWD3 ring finger and WD repeat domain 3 JBrowse link 16 74,621,396 74,666,892 RGD:8699517
G RIT1 Ras like without CAAX 1 JBrowse link 1 155,897,808 155,911,349 RGD:8699517
G RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) JBrowse link 2 121,530,880 121,531,009 RGD:8699517
G ROBO4 roundabout guidance receptor 4 JBrowse link 11 124,883,691 124,897,865 RGD:8699517
G ROR2 receptor tyrosine kinase like orphan receptor 2 JBrowse link 9 91,722,598 91,950,228 RGD:8699517
G RPL27 ribosomal protein L27 JBrowse link 17 42,998,273 43,002,959 RGD:8699517
G RPL5 ribosomal protein L5 JBrowse link 1 92,831,986 92,841,924 RGD:8699517
G RPS17 ribosomal protein S17 JBrowse link 15 82,536,750 82,540,457 RGD:8699517
G RPS19 ribosomal protein S19 JBrowse link 19 41,860,255 41,872,925 RGD:8699517
G RREB1 ras responsive element binding protein 1 JBrowse link 6 7,107,743 7,251,980 RGD:8699517
G SALL1 spalt like transcription factor 1 JBrowse link 16 51,135,975 51,151,270 RGD:8699517
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:8699517
G SEC24C SEC24 homolog C, COPII coat complex component JBrowse link 10 73,744,164 73,772,167 RGD:8699517
G SEMA3E semaphorin 3E JBrowse link 7 83,363,238 83,649,139 RGD:8699517
G SETBP1 SET binding protein 1 JBrowse link 18 44,680,072 45,068,510 RGD:8699517
G SETD5 SET domain containing 5 JBrowse link 3 9,397,615 9,478,154 RGD:8699517
G SH2B1 SH2B adaptor protein 1 JBrowse link 16 28,846,600 28,874,213 RGD:8699517
G SHOC2 SHOC2 leucine rich repeat scaffold protein JBrowse link 10 110,919,370 111,013,667 RGD:8699517
G SIK3 SIK family kinase 3 JBrowse link 11 116,843,410 117,098,453 RGD:8699517
G SKIV2L Ski2 like RNA helicase JBrowse link 6 31,959,157 31,969,852 RGD:8699517
G SLC19A2 solute carrier family 19 member 2 JBrowse link 1 169,463,909 169,485,970 RGD:8699517
G SLC25A24 solute carrier family 25 member 24 JBrowse link 1 108,134,043 108,200,343 RGD:8699517
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 71,319,253 71,363,390 RGD:8699517
G SLX4 SLX4 structure-specific endonuclease subunit JBrowse link 16 3,579,653 3,611,639 RGD:8699517
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 17 40,624,962 40,647,818 RGD:8699517
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 53,374,149 53,422,728 RGD:8699517
G SMC3 structural maintenance of chromosomes 3 JBrowse link 10 110,567,695 110,606,048 RGD:8699517
G SMN1 survival of motor neuron 1, telomeric JBrowse link 5 70,924,941 70,953,015 RGD:8699517
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 20 2,461,642 2,470,789 RGD:8699517
G SON SON DNA binding protein JBrowse link 21 33,543,038 33,577,514 RGD:8699517
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like JBrowse link 22 24,270,817 24,417,740 RGD:8699517
G SRCAP Snf2 related CREBBP activator protein JBrowse link 16 30,699,171 30,741,409 RGD:8699517
G STK4 serine/threonine kinase 4 JBrowse link 20 44,966,470 45,080,021 RGD:8699517
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 15 74,179,466 74,212,267 RGD:8699517
G STRADA STE20 related adaptor alpha JBrowse link 17 63,702,832 63,741,986 RGD:8699517
G TALDO1 transaldolase 1 JBrowse link 11 747,464 765,012 RGD:8699517
G TBL2 transducin beta like 2 JBrowse link 7 73,567,537 73,578,605 RGD:8699517
G TBX1 T-box transcription factor 1 JBrowse link 22 19,756,703 19,783,593 RGD:8699517
G TBX2 T-box transcription factor 2 JBrowse link 17 61,399,843 61,409,466 RGD:8699517
G TBX22 T-box transcription factor 22 JBrowse link X 80,014,753 80,031,774 RGD:8699517
G TBX4 T-box transcription factor 4 JBrowse link 17 61,452,422 61,485,110 RGD:8699517
G TBX5 T-box transcription factor 5 JBrowse link 12 114,353,911 114,408,708 RGD:8699517
G TGDS TDP-glucose 4,6-dehydratase JBrowse link 13 94,574,054 94,596,274 RGD:8699517
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 9 99,104,038 99,154,192 RGD:8699517
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 3 30,606,472 30,694,142 RGD:8699517
G TLL1 tolloid like 1 JBrowse link 4 165,873,124 166,105,178 RGD:8699517
G TMCO1 transmembrane and coiled-coil domains 1 JBrowse link 1 165,724,291 165,768,922 RGD:8699517
G TMEM260 transmembrane protein 260 JBrowse link 14 56,579,792 56,660,629 RGD:8699517
G TRAIP TRAF interacting protein JBrowse link 3 49,828,595 49,856,584 RGD:8699517
G TRIP13 thyroid hormone receptor interactor 13 JBrowse link 5 892,884 919,348 RGD:8699517
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 95,463,894 95,554,980 RGD:8699517
G UBE2T ubiquitin conjugating enzyme E2 T JBrowse link 1 202,331,657 202,341,966 RGD:8699517
G UBE3B ubiquitin protein ligase E3B JBrowse link 12 109,477,410 109,543,628 RGD:8699517
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 15 42,942,897 43,106,038 RGD:8699517
G UFD1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 22 19,449,911 19,479,193 RGD:8699517
G UMPS uridine monophosphate synthetase JBrowse link 3 124,730,366 124,749,273 RGD:8699517
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 119,805,311 119,853,028 RGD:8699517
G USP9X ubiquitin specific peptidase 9 X-linked JBrowse link X 41,085,420 41,236,579 RGD:8699517
G VAC14 VAC14 component of PIKFYVE complex JBrowse link 16 70,687,439 70,801,158 RGD:8699517
G VPS33B VPS33B late endosome and lysosome associated JBrowse link 15 90,998,416 91,022,839 RGD:8699517
G WASHC5 WASH complex subunit 5 JBrowse link 8 125,024,260 125,091,819 RGD:8699517
G WT1 WT1 transcription factor JBrowse link 11 32,387,775 32,435,539 RGD:8699517
G XRCC2 X-ray repair cross complementing 2 JBrowse link 7 152,644,776 152,676,141 RGD:8699517
G XYLT2 xylosyltransferase 2 JBrowse link 17 50,346,126 50,361,185 RGD:8699517
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 JBrowse link X 129,803,288 129,843,886 RGD:8699517
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,081 144,520,119 RGD:8699517
G ZIC3 Zic family member 3 JBrowse link X 137,566,127 137,577,691 RGD:8699517
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8699517
Patent foramen ovale term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACADVL acyl-CoA dehydrogenase very long chain JBrowse link 17 7,217,125 7,225,267 RGD:8699517
G ALG12 ALG12 alpha-1,6-mannosyltransferase JBrowse link 22 49,860,163 49,918,469 RGD:8699517
G AMMECR1 AMMECR nuclear protein 1 JBrowse link X 110,194,186 110,440,233 RGD:8699517
G ASCC1 activating signal cointegrator 1 complex subunit 1 JBrowse link 10 72,096,032 72,218,777 RGD:8699517
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 11 62,615,296 62,621,986 RGD:8699517
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 12 1,969,552 2,697,950 RGD:8699517
G CACNA1D calcium voltage-gated channel subunit alpha1 D JBrowse link 3 53,494,611 53,813,733 RGD:8699517
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 71,964,395 72,013,562 RGD:8699517
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:8699517
G DSE dermatan sulfate epimerase JBrowse link 6 116,254,171 116,444,861 RGD:8699517
G DVL3 dishevelled segment polarity protein 3 JBrowse link 3 184,155,311 184,173,614 RGD:8699517
G FANCI FA complementation group I JBrowse link 15 89,243,973 89,317,259 RGD:8699517
G FLCN folliculin JBrowse link 17 17,206,946 17,237,188 RGD:8699517
G GATA6 GATA binding protein 6 JBrowse link 18 22,169,437 22,202,528 RGD:8699517
G HSPA9 heat shock protein family A (Hsp70) member 9 JBrowse link 5 138,553,756 138,575,401 RGD:8699517
G IGF1R insulin like growth factor 1 receptor JBrowse link 15 98,648,539 98,964,530 RGD:8699517
G LTBP4 latent transforming growth factor beta binding protein 4 JBrowse link 19 40,593,166 40,629,820 RGD:8699517
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 JBrowse link 6 90,513,579 90,587,072 RGD:8699517
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,219 RGD:8699517
G NCAPG2 non-SMC condensin II complex subunit G2 JBrowse link 7 158,631,169 158,704,816 RGD:8699517
G NKX2-1 NK2 homeobox 1 JBrowse link 14 36,516,397 36,520,232 RGD:8699517
G NONO non-POU domain containing octamer binding JBrowse link X 71,283,192 71,301,168 RGD:8699517
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,546,048 RGD:8699517
G PACS1 phosphofurin acidic cluster sorting protein 1 JBrowse link 11 66,070,272 66,244,744 RGD:8699517
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,934 119,744,218 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G PLD1 phospholipase D1 JBrowse link 3 171,600,404 171,810,483 RGD:8699517
G PPP1CB protein phosphatase 1 catalytic subunit beta JBrowse link 2 28,751,748 28,802,940 RGD:8699517
G RAC1 Rac family small GTPase 1 JBrowse link 7 6,374,527 6,403,967 RGD:8699517
G RERE arginine-glutamic acid dipeptide repeats JBrowse link 1 8,352,404 8,817,640 RGD:8699517
G STAT1 signal transducer and activator of transcription 1 JBrowse link 2 190,968,989 191,014,250 RGD:8699517
G TALDO1 transaldolase 1 JBrowse link 11 747,464 765,012 RGD:8699517
G TBX20 T-box transcription factor 20 JBrowse link 7 35,199,936 35,254,100 RGD:8699517
G TGFB3 transforming growth factor beta 3 JBrowse link 14 75,958,061 75,983,011 RGD:8699517
G TKT transketolase JBrowse link 3 53,224,707 53,256,114 RGD:8699517
G TMEM94 transmembrane protein 94 JBrowse link 17 75,441,159 75,500,452 RGD:8699517
G TRIP4 thyroid hormone receptor interactor 4 JBrowse link 15 64,387,836 64,455,303 RGD:8699517
G TRRAP transformation/transcription domain associated protein JBrowse link 7 98,878,490 99,013,243 RGD:8699517
G TSFM Ts translation elongation factor, mitochondrial JBrowse link 12 57,782,745 57,802,856 RGD:8699517
G UBE2A ubiquitin conjugating enzyme E2 A JBrowse link X 119,574,563 119,584,423 RGD:8699517
G WDR35 WD repeat domain 35 JBrowse link 2 19,910,260 19,990,105 RGD:8699517
Primum atrial septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA4 GATA binding protein 4 JBrowse link 8 11,676,931 11,760,002 RGD:8699517
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,646 121,449,727 RGD:8699517
Secundum atrial septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA6 GATA binding protein 6 JBrowse link 18 22,169,437 22,202,528 RGD:8699517
G GDF1 growth differentiation factor 1 JBrowse link 19 18,868,545 18,896,158 RGD:8699517
G MYH6 myosin heavy chain 6 JBrowse link 14 23,381,990 23,408,277 RGD:8699517
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8699517
G NKX2-5 NK2 homeobox 5 JBrowse link 5 173,232,109 173,235,321 RGD:8699517
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,192,312 23,194,245 RGD:8699517
G RPL11 ribosomal protein L11 JBrowse link 1 23,691,779 23,696,835 RGD:8699517
G TBX5 T-box transcription factor 5 JBrowse link 12 114,353,911 114,408,708 RGD:8699517
G TRIP4 thyroid hormone receptor interactor 4 JBrowse link 15 64,387,836 64,455,303 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the cardiovascular system 2278
        Abnormality of cardiovascular system morphology 1418
          Abnormal heart morphology 1126
            Abnormal cardiac atrium morphology 305
              Atrial septal defect 294
                Patent foramen ovale 41
                Primum atrial septal defect 2
                Secundum atrial septal defect 9
                Sinus venosus atrial septal defect 0
                Swiss cheese atrial septal defect 0
                Unroofed coronary sinus 0
Path 2
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the cardiovascular system 2278
        Abnormality of cardiovascular system morphology 1418
          Abnormal heart morphology 1126
            Abnormal cardiac septum morphology 493
              Abnormal atrial septum morphology 296
                Atrial septal defect 294
                  Patent foramen ovale 41
                  Primum atrial septal defect 2
                  Secundum atrial septal defect 9
                  Sinus venosus atrial septal defect 0
                  Swiss cheese atrial septal defect 0
                  Unroofed coronary sinus 0
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.