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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:A heart septal defect located_in in the septum that separates the two atria of the heart. (DO)
Synonyms:exact_synonym: Atrial Septal Defect;   Ostium Secundum Atrial Septal Defect;   atrial septal defects;   atrioseptal defect;   auricular septal defect;   congenital atrial septal defect;   interatrial septal defect;   interauricular septal defect;   persistent ostium primum
 primary_id: MESH:D006344
 xref: EFO:1000825;   ICD10CM:Q21.1;   MIM:PS108800;   NCI:C84473;   ORDO:1478
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Actc1 actin, alpha, cardiac muscle 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs762642(human) RGD PMID:25022354 RGD:13442496 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Gata4 GATA binding protein 4 ISO DNA:missense mutation: :p.G21V (human)
ClinVar Annotator: match by term: Atrial septal defect
DNA:mutation:cds:p.G115W (human)		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30755392 PMID:21373748 PMID:27418595 RGD:7207050, RGD:155883161 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Isl1 ISL LIM homeobox 1 susceptibility ISO DNA:SNP: :rs1017(human) RGD PMID:24634231 RGD:243049248 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 PMID:31834374 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651 		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
RGD		 PMID:15735645 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28416588 More... RGD:1580922 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:21055718 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29543232 More... NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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
RGD		 PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... RGD:12914794, RGD:12914795 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16740914 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect ClinVar PMID:25741868 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		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:25741868 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) RGD PMID:17143285 RGD:11063543 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) RGD PMID:30525309 RGD:401794416 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tbx20 T-box transcription factor 20 susceptibility ISO DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) RGD PMID:26675025 RGD:155882600 NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
atrial heart septal defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:108800 MouseDO NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28492532 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Ntf3 neurotrophin 3 ISS OMIM:108800 MouseDO NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: ASD II ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Atrial septal defect 1 ClinVar PMID:28359939 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		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
ISS		 ClinVar Annotator: match by term: Atrial septal defect 2
OMIM:607941
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12845333 PMID:15810002 PMID:15863664 PMID:17548362 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11815426 PMID:15735645 PMID:15998695 PMID:16199547 More... NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition		 OMIM
CTD
ClinVar		 PMID:17668378 PMID:18834961 PMID:19074289 PMID:19762328 PMID:25741868 More... NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 More... NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523 		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 term: TLL1-related condition
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.I263V (human)
DNA:deletion|insertion|mutations:exons:multiple (human		 OMIM
ClinVar
CTD
RGD		 PMID:10331975 PMID:18830233 PMID:25741868 PMID:28492532 PMID:31570783 More... RGD:155883161, RGD:155882583 NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543 		JBrowse link
atrial heart septal defect 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434 		JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157 		JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO
ISS		 ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome
OMIM:108900		 OMIM
ClinVar
MouseDO		 PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,520,383...16,524,604 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973 		JBrowse link
atrial heart septal defect 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Atrial septal defect 8 ClinVar PMID:28492532 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: Atrial septal defect 8 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		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 Atp6v0e1 ATPase H+ transporting V0 subunit e1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,479,656...16,502,732
Ensembl chr10:16,479,567...16,524,434 		JBrowse link
G Bnip1 BCL2 interacting protein 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,386,876...16,399,124
Ensembl chr10:16,386,841...16,399,157 		JBrowse link
G Crebrf CREB3 regulatory factor ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,399,170...16,479,650
Ensembl chr10:16,404,596...16,461,999 		JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,531,192...16,626,974
Ensembl chr10:16,531,194...16,626,957 		JBrowse link
G Neurl1b neuralized E3 ubiquitin protein ligase 1B ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,754,002...16,785,049
Ensembl chr10:16,757,208...16,785,119 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:1260978 PMID:9536098 PMID:9651244 PMID:10587520 PMID:10903346 More... NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Rpl26l1 ribosomal protein L26 like 1 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,520,383...16,524,604 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
G Stc2 stanniocalcin 2 ISO ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects ClinVar PMID:17891520 PMID:20456451 PMID:25205790 PMID:26014430 PMID:28492532 NCBI chr10:16,251,046...16,260,815
Ensembl chr10:16,250,853...16,262,973 		JBrowse link
Atrial Septal Defect, Secundum Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO DNA:missense mutation:CDS:p.E846K (mouse) RGD PMID:21041952 RGD:11064696 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ccn1 cellular communication network factor 1 ISS
ISO		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISS OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		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: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr15:7,524,257...7,550,553
Ensembl chr15:7,524,257...7,550,553 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665 		JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649 		JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081 		JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition ClinVar
OMIM		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,317,110...146,340,073
Ensembl chr 4:146,313,541...146,340,463 		JBrowse link
G Lmcd1 LIM and cysteine-rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,393,153...145,452,049
Ensembl chr 4:145,393,145...145,452,046 		JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317 		JBrowse link
G Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,735,654...145,821,102
Ensembl chr 4:145,735,654...145,821,069 		JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794 		JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575 		JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590 		JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,845,156...146,865,708
Ensembl chr 4:146,845,156...146,860,897 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246 		JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G Ctsb cathepsin B ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863 		JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689 		JBrowse link
G Mir1 microRNA 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,887,537...1,887,623 JBrowse link
G Mir133a1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,885,082...1,885,168 JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		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 chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		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 chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		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 chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:		 OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
central conducting lymphatic anomaly 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: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877 		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:25741868 PMID:28492532 NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
Holt-Oram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
RGD		 PMID:30067223 PMID:12843316 RGD:11556209 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO
ISS		 ClinVar Annotator: match by term: Heart-hand syndrome, type 1 | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition
OMIM:142900
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G125R (human)
DNA:missense mutations, deletion:cds:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... RGD:1578428, RGD:7327219, RGD:7327217 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Holt-Oram syndrome ClinVar PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 More... NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
Oculootofacial Dysplasia 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: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		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 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
patent foramen ovale term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		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 chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Patent foramen ovale ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		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: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		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:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Vps35l VPS35 endosomal protein sorting factor like ISO ClinVar Annotator: match by term: 3C syndrome ClinVar PMID:25741868 NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610 		JBrowse link
G Washc5 WASH complex subunit 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3C syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:24123792 PMID:25741868 PMID:26467025 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		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:31971710 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 ClinVar PMID:3812597 PMID:31474318 PMID:33894126 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 OMIM
ClinVar		 PMID:7604842 PMID:24065355 PMID:24824269 PMID:25741868 PMID:26467025 More... NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		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: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 OMIM
ClinVar		 PMID:19377476 PMID:21826058 PMID:23563313 PMID:24916641 PMID:25644381 More... NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		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 OMIM
ClinVar		 PMID:25741868 PMID:31712251 PMID:36113987 NCBI chr 1:173,076,219...173,179,663
Ensembl chr 1:173,076,099...173,180,610 		JBrowse link
Ritscher-Schinzel Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 OMIM
ClinVar		 PMID:3812597 PMID:25741868 PMID:31474318 PMID:33894126 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      congenital heart disease 1385
        heart septal defect 221
          atrial heart septal defect 127
            Atrial Septal Defect Ostium Primum 0
            Atrial Septal Defect Sinus Venosus 0
            Atrial Septal Defect with Atrioventricular Conduction Defects + 10
            Atrial Septal Defect, Secundum Type 1
            Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
            Ciuffo Syndrome 0
            Dursun Syndrome 1
            Holt-Oram syndrome + 3
            Lutembacher's syndrome 0
            Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
            Oculootofacial Dysplasia + 15
            Radial Ray Deficiency, X-Linked 0
            Ritscher-Schinzel syndrome + 4
            Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
            Tel Hashomer Camptodactyly Syndrome 0
            atrial heart septal defect 1 8
            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 10
            atrial heart septal defect 8 2
            atrial heart septal defect 9 1
            atrioventricular septal defect + 61
            central conducting lymphatic anomaly 3
            patent foramen ovale 5
            rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        Congenital Abnormalities 7762
          Cardiovascular Abnormalities 1585
            congenital heart disease 1385
              heart septal defect 221
                atrial heart septal defect 127
                  Atrial Septal Defect Ostium Primum 0
                  Atrial Septal Defect Sinus Venosus 0
                  Atrial Septal Defect with Atrioventricular Conduction Defects + 10
                  Atrial Septal Defect, Secundum Type 1
                  Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
                  Ciuffo Syndrome 0
                  Dursun Syndrome 1
                  Holt-Oram syndrome + 3
                  Lutembacher's syndrome 0
                  Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
                  Oculootofacial Dysplasia + 15
                  Radial Ray Deficiency, X-Linked 0
                  Ritscher-Schinzel syndrome + 4
                  Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects 0
                  Tel Hashomer Camptodactyly Syndrome 0
                  atrial heart septal defect 1 8
                  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 10
                  atrial heart septal defect 8 2
                  atrial heart septal defect 9 1
                  atrioventricular septal defect + 61
                  central conducting lymphatic anomaly 3
                  patent foramen ovale 5
                  rapadilino syndrome 1
paths to the root