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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:atrial heart septal defect
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Accession:DOID:1882 term browser browse the term
Definition:Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.
Synonyms:exact_synonym: Atrial Septal Defect;   Atrial Septal Defects;   Ostium Secundum Atrial Septal Defect;   Persistent Ostium Primum;   atrioseptal defect;   auricular septal defect;   congenital atrial septal defect;   interatrial septal defect;   interauricular septal defect
 primary_id: MESH:D006344
 alt_id: RDO:0000304
 xref: ICD10CM:Q21.1;   NCI:C84473;   OMIM:PS108800;   ORDO:1478
For additional species annotation, visit the Alliance of Genome Resources.


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atrial heart septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs762642(human) RGD PMID:25022354 RGD:13442496 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Gata4 GATA binding protein 4 ISO DNA:missense mutation: :p.G21V (human)
ClinVar Annotator: match by term: Atrial septal defect
ClinVar PMID:25741868, PMID:21373748 RGD:7207050 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:31834374 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Myh6 myosin heavy chain 6 ISO DNA:missense mutation:p.I820N (human)
ClinVar Annotator: match by term: Atrial septal defect
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15735645 PMID:24033266 PMID:25741868 PMID:28416588 PMID:28492532, PMID:15735645 RGD:1580922 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:21055718 PMID:24033266 PMID:28492532 PMID:29543232 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:frameshift mutation, missense mutations: :p.P43Gfs*59, p.C46W, p.S179F (human)
ClinVar Annotator: match by term: Atrial septal defect
DNA:frameshift mutation:exon:p.G206Fs*231 (human)
ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532, PMID:21188375, PMID:25742962 RGD:12914794, RGD:12914795 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16740914 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
atrial heart septal defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccn1 cellular communication network factor 1 ISS OMIM:108800 MouseDO NCBI chr 2:251,529,354...251,532,312
Ensembl chr 2:251,529,354...251,532,312
JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:108800 MouseDO NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect 1
ClinVar Annotator: match by term: ASD II
ClinVar PMID:25741868 PMID:29555671 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28359939 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
atrial heart septal defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrial septal defect 2
ClinVar Annotator: match by OMIM:607941
OMIM
ClinVar
PMID:12845333 PMID:15810002 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21110066 PMID:21519287 PMID:24033266 PMID:25741868 PMID:26490186 PMID:26997702 PMID:27374936 PMID:27535533 PMID:28132688 PMID:28492532 PMID:29377543 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
atrial heart septal defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Atrial septal defect 3
ClinVar Annotator: match by OMIM:614089
OMIM
ClinVar
PMID:15735645 PMID:15998695 PMID:20215591 PMID:20656787 PMID:21483645 PMID:22011241 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26656175 PMID:27789736 PMID:28166811 PMID:28416588 PMID:28492532 PMID:28600387 PMID:28771489 PMID:28797094 PMID:28991257 PMID:29875424 PMID:31513939 PMID:32004434 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
atrial heart septal defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Atrial septal defect 4
ClinVar Annotator: match by OMIM:611363
OMIM
ClinVar
PMID:17668378 PMID:19762328 PMID:25741868 PMID:28492532 NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
atrial heart septal defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect 5
ClinVar Annotator: match by OMIM:612794
OMIM
ClinVar
PMID:17947298 PMID:22555271 PMID:23054336 PMID:24033266 PMID:25741868 PMID:27532257 PMID:28138913 PMID:28492532 NCBI chr 3:105,507,403...105,512,939
Ensembl chr 3:105,507,403...105,512,939
JBrowse link
atrial heart septal defect 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tll1 tolloid-like 1 ISO ClinVar Annotator: match by term: Atrial septal defect 6
ClinVar Annotator: match by OMIM:613087
OMIM
ClinVar
PMID:18830233 PMID:25741868 NCBI chr16:27,399,467...27,597,240
Ensembl chr16:27,399,467...27,597,240
JBrowse link
atrial heart septal defect 7 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: Atrial septal defect 7 with or without atrioventricular conduction defects
ClinVar Annotator: match by term: ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ClinVar Annotator: match by OMIM:108900
OMIM
ClinVar
PMID:1260978 PMID:9651244 PMID:10021345 PMID:10587520 PMID:10903346 PMID:10943630 PMID:10948187 PMID:11714651 PMID:12414819 PMID:12798584 PMID:14607454 PMID:15342699 PMID:15689439 PMID:15810002 PMID:15917268 PMID:16418214 PMID:16896344 PMID:17891434 PMID:17891520 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:21110066 PMID:21561848 PMID:21677783 PMID:22920929 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:24880466 PMID:25028484 PMID:25205790 PMID:25319568 PMID:25741868 PMID:25742962 PMID:26014430 PMID:26805889 PMID:27013732 PMID:27904570 PMID:28166811 PMID:28492532 PMID:28536625 PMID:29037160 PMID:29745128 PMID:30240412 PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrial heart septal defect 8 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: Atrial septal defect 8
ClinVar Annotator: match by OMIM:614433
OMIM
ClinVar
PMID:16287139 PMID:25741868 NCBI chr 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
atrial heart septal defect 9 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: Atrial septal defect 9 OMIM
ClinVar
PMID:20631719 PMID:25741868 PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
Atrial Septal Defect with Atrioventricular Conduction Defects 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: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:18414213 PMID:18976153 PMID:19073351 PMID:19181906 PMID:19464101 PMID:19533775 PMID:19678963 PMID:19933292 PMID:19948535 PMID:20022124 PMID:20456451 PMID:20725931 PMID:20807224 PMID:20981092 PMID:21091212 PMID:22995991 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:251,529,354...251,532,312
Ensembl chr 2:251,529,354...251,532,312
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 ISS
ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: Atrioventricular septal defect
MouseDO
ClinVar
PMID:27058611 NCBI chr15:8,730,871...8,757,165
Ensembl chr15:8,730,871...8,757,165
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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 2 ClinVar PMID:28492532 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,289,300...145,300,146
Ensembl chr 4:145,288,996...145,300,177
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,238,011...145,262,444
Ensembl chr 4:145,238,947...145,262,442
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2
ClinVar Annotator: match by term: CRELD1-related condition
ClinVar
OMIM
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 PMID:24697899 PMID:25516202 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,471,466...145,487,375
Ensembl chr 4:145,471,454...145,487,426
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,413,157...145,426,608
Ensembl chr 4:145,413,230...145,426,603
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,449,574...145,458,900
Ensembl chr 4:145,450,861...145,454,834
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,361,937...145,370,992
Ensembl chr 4:145,366,765...145,370,992
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,318,417...145,330,291
Ensembl chr 4:145,318,435...145,329,878
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:145,341,059...145,366,614
Ensembl chr 4:145,342,193...145,365,496
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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 OMIM
ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar
PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:15863664 PMID:16199547 PMID:17352393 PMID:17576681 PMID:17592645 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19353638 PMID:19678963 PMID:20347099 PMID:20659440 PMID:20854389 PMID:20874241 PMID:20981092 PMID:21055141 PMID:21110066 PMID:21373748 PMID:21519287 PMID:21631294 PMID:21637475 PMID:21834050 PMID:21933911 PMID:22011241 PMID:22318994 PMID:22498567 PMID:22500510 PMID:23239632 PMID:23626780 PMID:23696316 PMID:24033266 PMID:24127225 PMID:25205790 PMID:25516202 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27130165 PMID:27139165 PMID:27374936 PMID:27391137 PMID:27535533 PMID:27899157 PMID:28132688 PMID:28161810 PMID:28166811 PMID:28492532 PMID:28798025 PMID:29368431 PMID:29377543 PMID:31322791 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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:18414213 PMID:20581743 PMID:20631719 PMID:22158542 PMID:23223019 PMID:24310933 PMID:25741868 PMID:27756709 PMID:28166811 PMID:28381408 PMID:28492532 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
JBrowse link
Dursun Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:19118303 PMID:20799326 PMID:25491320 PMID:25741868 PMID:28492532 PMID:31564432 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:22772368 PMID:23102774 PMID:26854089 PMID:28492532 NCBI chr13:104,049,263...104,080,680
Ensembl chr13:104,049,386...104,080,631
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:30067223, PMID:12843316 RGD:11556209 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar Annotator: match by OMIM:142900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
DNA:missense mutation:cds:p.G125R (human)
DNA:missense mutations, deletion:cds:multiple
OMIM
ClinVar
CTD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10077762 PMID:10842287 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15710732 PMID:15735645 PMID:16183809 PMID:16199547 PMID:16380715 PMID:16917909 PMID:17534187 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:22333898 PMID:24033266 PMID:24664498 PMID:25260786 PMID:25263169 PMID:25326637 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28166811 PMID:28492532 PMID:29755943, PMID:11572777, PMID:18451335, PMID:20519243 RGD:1578428, RGD:7327219, RGD:7327217 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:1631557 PMID:3476488 PMID:8819159 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22772368 PMID:22772371 PMID:23102774 PMID:24033266 PMID:24440784 PMID:24465802 PMID:24577266 PMID:25046559 PMID:25049390 PMID:25644172 PMID:25741868 PMID:26017485 PMID:26854089 PMID:27782106 PMID:28468283 PMID:28492532 PMID:28633253 PMID:28655553 PMID:29392890 PMID:29510914 PMID:29543232 PMID:29907982 PMID:31191903 PMID:31915033 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125 PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
patent foramen ovale term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type ClinVar PMID:25741868 PMID:29555671 NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rapadilino syndrome
ClinVar Annotator: match by OMIM:266280
OMIM
ClinVar
PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:16199547 PMID:17250975 PMID:18504617 PMID:18716613 PMID:19291770 PMID:22885111 PMID:23238538 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25741868 PMID:25966250 PMID:27247962 PMID:28486640 PMID:28492532 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
Ritscher-Schinzel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
Ritscher-Schinzel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:19377476 PMID:21826058 PMID:24916641 PMID:31971710 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:31474318 NCBI chr 6:26,939,696...27,024,129
Ensembl chr 6:26,939,697...27,024,129
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar
PMID:7604842 PMID:17160902 PMID:23455931 PMID:24065355 PMID:25741868 PMID:27957547 PMID:28492532 PMID:31971710 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
Ritscher-Schinzel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2 OMIM
ClinVar
PMID:19377476 PMID:21826058 PMID:24916641 PMID:25741868 PMID:28492532 PMID:31971710 NCBI chr  X:15,742,978...15,754,925
Ensembl chr  X:15,742,978...15,754,925
JBrowse link
Ritscher-Schinzel Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 3 ClinVar
OMIM
PMID:31712251 NCBI chr 1:188,448,517...188,552,268
Ensembl chr 1:188,448,478...188,552,272
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      congenital heart disease 1077
        heart septal defect 133
          atrial heart septal defect 81
            Atrial Septal Defect Ostium Primum 0
            Atrial Septal Defect Sinus Venosus 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 1
            Atrial Septal Defect, Secundum Type 0
            Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
            Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
            Ciuffo Syndrome 0
            Dursun Syndrome 1
            Holt-Oram syndrome 4
            Irons Bhan Syndrome 0
            Lutembacher's syndrome 0
            Lymphatic Malformation 7 1
            Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
            Oculootofacial Dysplasia + 15
            Radial Ray Deficiency, X-Linked 0
            Ritscher-Schinzel syndrome + 4
            Tel Hashomer Camptodactyly Syndrome 0
            atrial heart septal defect 1 4
            atrial heart septal defect 2 1
            atrial heart septal defect 3 1
            atrial heart septal defect 4 1
            atrial heart septal defect 5 1
            atrial heart septal defect 6 1
            atrial heart septal defect 7 1
            atrial heart septal defect 8 1
            atrial heart septal defect 9 1
            atrioventricular septal defect + 36
            patent foramen ovale 2
            rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Cardiovascular Abnormalities 1134
            congenital heart disease 1077
              heart septal defect 133
                atrial heart septal defect 81
                  Atrial Septal Defect Ostium Primum 0
                  Atrial Septal Defect Sinus Venosus 0
                  Atrial Septal Defect with Atrioventricular Conduction Defects + 1
                  Atrial Septal Defect, Secundum Type 0
                  Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                  Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
                  Ciuffo Syndrome 0
                  Dursun Syndrome 1
                  Holt-Oram syndrome 4
                  Irons Bhan Syndrome 0
                  Lutembacher's syndrome 0
                  Lymphatic Malformation 7 1
                  Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
                  Oculootofacial Dysplasia + 15
                  Radial Ray Deficiency, X-Linked 0
                  Ritscher-Schinzel syndrome + 4
                  Tel Hashomer Camptodactyly Syndrome 0
                  atrial heart septal defect 1 4
                  atrial heart septal defect 2 1
                  atrial heart septal defect 3 1
                  atrial heart septal defect 4 1
                  atrial heart septal defect 5 1
                  atrial heart septal defect 6 1
                  atrial heart septal defect 7 1
                  atrial heart septal defect 8 1
                  atrial heart septal defect 9 1
                  atrioventricular septal defect + 36
                  patent foramen ovale 2
                  rapadilino syndrome 1
paths to the root