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ventricular septal defect - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ventricular septal defect
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Accession:DOID:1657 term browser browse the term
Definition:A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)
Synonyms:exact_synonym: congenital ventricular septal defect;   interventricular septal defect;   intraventricular septal defect;   intraventricular septal defects;   ventricular heart septal defects;   ventricular septal abnormality;   ventricular septal defects
 primary_id: MESH:D006345
 xref: GARD:7853;   ICD10CM:Q21.0;   ICD9CM:745.4;   MIM:PS614429;   NCI:C84506;   ORDO:1480
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
ventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Acvr1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chrNW_004624732:7,929,997...8,004,235
Ensembl chrNW_004624732:7,929,583...8,005,072 		JBrowse link
G G ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177 		JBrowse link
G P ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544 		JBrowse link
G S Acvr1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chrNW_004936469:20,743,195...20,811,567
Ensembl chrNW_004936469:20,743,213...20,811,569 		JBrowse link
G D ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652 		JBrowse link
G B ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805 		JBrowse link
G C Acvr1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chrNW_004955449:15,587,958...15,706,432
Ensembl chrNW_004955449:15,640,230...15,708,694 		JBrowse link
G R Acvr1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr 3:63,387,378...63,506,980
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G M Acvr1 activin A receptor, type 1 IMP RGD PMID:22536403 RGD:329337340 NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169 		JBrowse link
G H ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330 		JBrowse link
G N Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G P BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G S Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G D BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G B BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G C Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G R Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G M Braf Braf transforming gene ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G H BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G N Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
G G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
G P CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G S Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936560:6,353,901...6,356,749
Ensembl chrNW_004936560:6,354,338...6,356,735 		JBrowse link
G D CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G B CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:137,134,142...137,136,550 JBrowse link
G C Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955436:20,370,950...20,372,677
Ensembl chrNW_004955436:20,370,950...20,372,677 		JBrowse link
G R Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G M Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G H CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G P EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		JBrowse link
G S Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G D EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G B EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G C Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355 		JBrowse link
G R Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G M Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G H EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G N Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chrNW_004624755:22,432,174...22,478,595
Ensembl chrNW_004624755:22,437,167...22,478,591 		JBrowse link
G G EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr27:41,853,475...41,944,584
Ensembl chr27:41,861,918...41,944,333 		JBrowse link
G P EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 8:4,808,622...4,891,236
Ensembl chr 8:4,810,093...4,891,165 		JBrowse link
G S Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chrNW_004936477:17,940,792...17,992,996
Ensembl chrNW_004936477:17,937,677...17,993,727 		JBrowse link
G D EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 3:70,937,957...71,007,431
Ensembl chr 3:70,937,926...71,016,115 		JBrowse link
G B EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 Ensembl chr 4:5,789,316...5,894,265 JBrowse link
G C Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chrNW_004955514:4,279,603...4,330,897
Ensembl chrNW_004955514:4,279,073...4,331,131 		JBrowse link
G R Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr14:77,680,901...77,722,608
Ensembl chr14:73,456,222...73,498,099 		JBrowse link
G M Evc EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238 		JBrowse link
G H EVC EvC ciliary complex subunit 1 IAGP DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G N Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G P FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G S Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G D FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G B FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G C Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chrNW_004955551:2,321,190...2,427,000 JBrowse link
G R Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G M Fgfr2 fibroblast growth factor receptor 2 IMP RGD PMID:16687131 RGD:155663670 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G H FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G N Flna filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G G FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G P FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G S Flna filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G D FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G B FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G C Flna filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G R Flna filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G M Flna filamin, alpha ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G H FLNA filamin A IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G N Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004624746:2,599,211...2,603,031
Ensembl chrNW_004624746:2,599,106...2,603,336 		JBrowse link
G G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661 		JBrowse link
G P FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659 		JBrowse link
G S Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004943883:4...1,756 JBrowse link
G D FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935 		JBrowse link
G B FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr16:67,183,416...67,188,211
Ensembl chr16:86,516,119...86,519,949 		JBrowse link
G C Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004955541:1,341,715...1,345,397
Ensembl chrNW_004955541:1,317,114...1,346,590 		JBrowse link
G R Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G M Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 8:121,811,100...121,814,883
Ensembl chr 8:121,811,125...121,814,883 		JBrowse link
G H FOXF1 forkhead box F1 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G N Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G P GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G S Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G D GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G B GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,442,921...7,526,731 JBrowse link
G C Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G R Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G M Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G H GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G N Gata5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chrNW_004624741:28,310,679...28,322,209
Ensembl chrNW_004624741:28,310,201...28,321,095 		JBrowse link
G G GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G P GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G S Gata5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541 		JBrowse link
G D GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858 		JBrowse link
G B GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 Ensembl chr20:60,148,359...60,158,886 JBrowse link
G C Gata5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979 		JBrowse link
G R Gata5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22961344 PMID:22536403 RGD:155260356, RGD:329337340 NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G M Gata5 GATA binding protein 5 ISO
IMP		 DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22961344 PMID:22536403 RGD:155260356, RGD:329337340 NCBI chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G H GATA5 GATA binding protein 5 IAGP
ISO		 DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22961344 PMID:22536403 RGD:155260356, RGD:329337340 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G N Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G G GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G P GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G S Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399 		JBrowse link
G D GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G B GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.D404Y (human)
DNA:missense mutation:cds:p.G220S (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr18:15,411,764...15,444,402 JBrowse link
G R Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G M Gata6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G H GATA6 GATA binding protein 6 IAGP DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872, RGD:13208873 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G N Igf2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G P IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G S Igf2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167 		JBrowse link
G D IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G B IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G C Igf2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G R Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G M Igf2 insulin-like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G H IGF2 insulin like growth factor 2 treatment IEP RGD PMID:21238444 RGD:13204804 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G N Isl1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chrNW_004624759:7,996,177...8,006,281
Ensembl chrNW_004624759:7,994,242...8,006,311 		JBrowse link
G G ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:SNP: :rs1017(human)
DNA:polymorphisms: :rs3762977,IVS1+17C(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G P ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907 		JBrowse link
G S Isl1 ISL LIM homeobox 1 susceptibility ISO DNA:SNP: :rs1017(human)
DNA:polymorphisms: :rs3762977,IVS1+17C(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chrNW_004936480:15,805,259...15,817,854
Ensembl chrNW_004936480:15,805,247...15,817,854 		JBrowse link
G D ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183 		JBrowse link
G B ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674 		JBrowse link
G C Isl1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chrNW_004955446:15,824,956...15,835,000
Ensembl chrNW_004955446:15,824,035...15,835,046 		JBrowse link
G R Isl1 ISL LIM homeobox 1 susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461, RGD:243049248 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G M Isl1 ISL1 transcription factor, LIM/homeodomain susceptibility ISO DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461, RGD:243049248 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G H ISL1 ISL LIM homeobox 1 susceptibility IAGP DNA:polymorphisms: :rs3762977,IVS1+17C(human)
DNA:SNP: :rs1017(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461, RGD:243049248 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G N Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G P MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G S Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G D MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G B MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G C Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G R Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G M Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G H MMP9 matrix metallopeptidase 9 severity IDA RGD PMID:21238444 RGD:13204804 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G N Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr14:91,685,376...91,692,091 JBrowse link
G P MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046 		JBrowse link
G S Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
G D MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G B MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G C Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		JBrowse link
G R Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G M Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G H MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G N Nfatc1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chrNW_004624806:905,487...1,022,784
Ensembl chrNW_004624806:905,174...1,022,800 		JBrowse link
G G NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G P NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139 		JBrowse link
G S Nfatc1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chrNW_004936616:484,062...584,950
Ensembl chrNW_004936616:484,045...587,891 		JBrowse link
G D NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588 		JBrowse link
G B NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G C Nfatc1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457 		JBrowse link
G R Nfatc1 nuclear factor of activated T-cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:23286482 PMID:21499900 RGD:243065234, RGD:268530901 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G M Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:23286482 PMID:21499900 RGD:243065234, RGD:268530901 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G H NFATC1 nuclear factor of activated T cells 1 susceptibility IAGP DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:23286482 PMID:21499900 RGD:243065234, RGD:268530901 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		JBrowse link
G N Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21165553 RGD:12914792 NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21165553 RGD:12914792 NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21165553 RGD:12914792 NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP
EXP		 DNA:missense mutation:exon:p.P59A (c.175C>G) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G N Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001 		JBrowse link
G G NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801 		JBrowse link
G P NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645 		JBrowse link
G S Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chrNW_004936555:7,111,678...7,114,944
Ensembl chrNW_004936555:7,111,678...7,114,944 		JBrowse link
G D NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G B NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643 		JBrowse link
G C Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chrNW_004955403:46,831,758...46,836,358
Ensembl chrNW_004955403:46,831,696...46,836,333 		JBrowse link
G R Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
G M Nkx2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		JBrowse link
G H NKX2-6 NK2 homeobox 6 susceptibility IAGP DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G N Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G P NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G S Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909 		JBrowse link
G D NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G B NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G C Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G R Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr14:81,057,727...81,135,866
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G M Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G H NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G N Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004624811:3,453,218...3,862,970 JBrowse link
G G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033 		JBrowse link
G P PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G S Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887 		JBrowse link
G D PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G B PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:48,480,607...48,943,331
Ensembl chr 9:74,745,761...75,220,502 		JBrowse link
G C Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004955512:2,914,834...3,333,440
Ensembl chrNW_004955512:2,917,243...3,333,688 		JBrowse link
G R Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G M Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr19:17,409,678...17,815,076
Ensembl chr19:17,409,683...17,814,996 		JBrowse link
G H PCSK5 proprotein convertase subtilisin/kexin type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:75,889,809...76,362,975
Ensembl chr 9:75,890,644...76,362,975 		JBrowse link
G N Robo1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G G ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		JBrowse link
G P ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G S Robo1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
G D ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G B ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308 		JBrowse link
G C Robo1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053 		JBrowse link
G R Robo1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G M Robo1 roundabout guidance receptor 1 IMP RGD PMID:25691540 RGD:243048427 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G N Robo2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004624745:800,963...2,121,445
Ensembl chrNW_004624745:804,797...1,390,551 		JBrowse link
G G ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr22:99,334,033...101,101,924 JBrowse link
G P ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr13:177,365,712...179,040,027
Ensembl chr13:177,365,772...179,013,542 		JBrowse link
G S Robo2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004936505:5,544,011...6,747,417
Ensembl chrNW_004936505:5,548,164...6,094,225 		JBrowse link
G D ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392 		JBrowse link
G B ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309 		JBrowse link
G C Robo2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004955407:14,301,689...15,549,561
Ensembl chrNW_004955407:14,305,498...14,842,790 		JBrowse link
G R Robo2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536 		JBrowse link
G M Robo2 roundabout guidance receptor 2 IGI RGD PMID:25691540 RGD:243048427 NCBI chr16:73,688,725...75,244,331
Ensembl chr16:73,688,727...74,889,765 		JBrowse link
G H ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964 		JBrowse link
G N Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G P RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G S Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G D RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G B RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G C Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G R Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G M Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G H RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G N Sall4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923 		JBrowse link
G G SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		JBrowse link
G P SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G S Sall4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R196W, p.S797C (human)		 CTD
RGD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chrNW_004936514:3,285,778...3,302,179
Ensembl chrNW_004936514:3,285,531...3,303,644 		JBrowse link
G D SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G B SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
G C Sall4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R196W, p.S797C (human)		 CTD
RGD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187 		JBrowse link
G R Sall4 spalt-like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:19619907 RGD:11556206 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G M Sall4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:19619907 RGD:11556206 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
G H SALL4 spalt like transcription factor 4 IAGP
EXP		 DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:30067223 PMID:19619907 RGD:11556206 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G N Slit2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266 		JBrowse link
G G SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr27:29,650,589...30,020,105
Ensembl chr27:29,650,337...29,803,612 		JBrowse link
G P SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,148,133 		JBrowse link
G S Slit2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004936477:8,111,212...8,448,567
Ensembl chrNW_004936477:8,109,228...8,446,653 		JBrowse link
G D SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955 		JBrowse link
G B SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656 		JBrowse link
G C Slit2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chrNW_004955480:3,982,977...4,314,160
Ensembl chrNW_004955480:3,984,586...4,313,908 		JBrowse link
G R Slit2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G M Slit2 slit guidance ligand 2 IMP RGD PMID:25691540 RGD:243048427 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075 		JBrowse link
G H SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561 		JBrowse link
G N Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:9,943,162...10,044,476 JBrowse link
G P SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295 		JBrowse link
G S Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
G D SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G B SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G C Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955495:2,021,671...2,105,155
Ensembl chrNW_004955495:2,021,566...2,105,397 		JBrowse link
G R Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G M Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G H SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G N Tbx1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G G TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G P TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G S Tbx1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G D TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G B TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr22:2,521,080...2,541,267 JBrowse link
G C Tbx1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G R Tbx1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G M Tbx1 T-box 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G H TBX1 T-box transcription factor 1 IAGP DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G N Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chrNW_004624740:25,645,526...25,698,235
Ensembl chrNW_004624740:25,645,895...25,697,132 		JBrowse link
G G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		JBrowse link
G P TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
G S Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564 		JBrowse link
G D TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507 		JBrowse link
G B TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 7:35,855,969...35,878,533 JBrowse link
G C Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chrNW_004955460:7,794,313...7,856,906
Ensembl chrNW_004955460:7,794,313...7,856,906 		JBrowse link
G R Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G M Tbx20 T-box 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599 		JBrowse link
G H TBX20 T-box transcription factor 20 IDA DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G N Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chrNW_004624942:890,465...893,679
Ensembl chrNW_004624942:890,365...893,811 		JBrowse link
G G TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr13:39,607,179...39,610,336
Ensembl chr13:39,607,182...39,610,388 		JBrowse link
G P TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 1:29,975,280...29,978,273
Ensembl chr 1:29,975,280...29,978,255 		JBrowse link
G S Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chrNW_004936560:1,733,903...1,736,895
Ensembl chrNW_004936560:1,733,903...1,736,890 		JBrowse link
G D TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 1:26,856,281...26,859,654
Ensembl chr 1:26,856,587...26,859,647 		JBrowse link
G B TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 6:131,656,582...131,662,983
Ensembl chr 6:135,754,896...135,761,294 		JBrowse link
G C Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chrNW_004955439:2,617,562...2,620,613
Ensembl chrNW_004955439:2,617,492...2,620,644 		JBrowse link
G R Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 1:24,520,499...24,523,358
Ensembl chr 1:22,701,353...22,704,202 		JBrowse link
G M Tcf21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr10:22,693,162...22,696,042
Ensembl chr10:22,693,180...22,696,073 		JBrowse link
G H TCF21 transcription factor 21 susceptibility IAGP DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr 6:133,889,113...133,895,537
Ensembl chr 6:133,889,113...133,895,553 		JBrowse link
G N Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004624770:11,190,103...11,275,823
Ensembl chrNW_004624770:11,190,595...11,221,512 		JBrowse link
G G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114 		JBrowse link
G P YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687 		JBrowse link
G D YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285 		JBrowse link
G B YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246 		JBrowse link
G C Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004955402:9,199,704...9,255,183
Ensembl chrNW_004955402:9,226,295...9,256,044 		JBrowse link
G R Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:113,200,256...113,299,837 		JBrowse link
G M Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401 		JBrowse link
G H YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546 		JBrowse link
G N Zfpm2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
G G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:100,138,867...100,620,355 JBrowse link
G P ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
G S Zfpm2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G D ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
G B ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
G C Zfpm2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
G R Zfpm2 zinc finger protein, multitype 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
G M Zfpm2 zinc finger protein, multitype 2 IMP RGD PMID:25196150 RGD:155882481 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		JBrowse link
G H ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bmp4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G G BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G P BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G S Bmp4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G D BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G B BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G C Bmp4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G R Bmp4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G M Bmp4 bone morphogenetic protein 4 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G H BMP4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G N Ccn1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667 		JBrowse link
G G CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997 		JBrowse link
G P CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150 		JBrowse link
G S Ccn1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chrNW_004936608:152,174...155,123
Ensembl chrNW_004936608:151,838...155,358 		JBrowse link
G D CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994 		JBrowse link
G B CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G C Ccn1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166 		JBrowse link
G R 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 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G M Ccn1 cellular communication network factor 1 IAGP
IMP		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G H 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 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G N Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624744:31,103,053...31,302,314
Ensembl chrNW_004624744:31,103,059...31,235,623 		JBrowse link
G G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
G P CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G S Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G D CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G B CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186 		JBrowse link
G C Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248 		JBrowse link
G R Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G M Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G H CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G N Dnah11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815 		JBrowse link
G G DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr21:36,350,606...36,722,018
Ensembl chr21:36,350,707...36,720,511 		JBrowse link
G P DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,092...90,768,353 		JBrowse link
G S Dnah11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004936546:7,370,180...7,681,835
Ensembl chrNW_004936546:7,370,381...7,681,020 		JBrowse link
G D DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806 		JBrowse link
G B DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485 		JBrowse link
G C Dnah11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004955410:24,045,333...24,352,626
Ensembl chrNW_004955410:24,044,886...24,352,626 		JBrowse link
G R Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G M Dnah11 dynein, axonemal, heavy chain 11 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G H DNAH11 dynein axonemal heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G N Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
G G ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr28:8,999,164...9,048,703 JBrowse link
G P ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G S Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G D ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G B ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532
G C Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G R Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G M Eln elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G H ELN elastin IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G N Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131 		JBrowse link
G G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G P FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G S Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324 		JBrowse link
G D FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397 		JBrowse link
G B FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G C Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923 		JBrowse link
G R Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
G M Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682 		JBrowse link
G H FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G N Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G P GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G S Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G D GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G B GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,442,921...7,526,731 JBrowse link
G C Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G R Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G M Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G H GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G N Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G P GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G S Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399 		JBrowse link
G D GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,932,114...65,962,574 JBrowse link
G B GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:15,411,764...15,444,402 JBrowse link
G R Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G M Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G H GATA6 GATA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G N Glyr1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004624824:2,655,909...2,692,546
Ensembl chrNW_004624824:2,655,909...2,692,522 		JBrowse link
G G GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 5:4,473,222...4,518,150
Ensembl chr 5:4,475,227...4,518,071 		JBrowse link
G P GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 3:37,555,357...37,593,492
Ensembl chr 3:37,555,394...37,593,559 		JBrowse link
G S Glyr1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004936530:4,761,838...4,794,191
Ensembl chrNW_004936530:4,761,823...4,794,729 		JBrowse link
G D GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:36,582,438...36,618,265
Ensembl chr 6:36,582,461...36,616,206 		JBrowse link
G B GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:3,727,358...3,771,554
Ensembl chr16:4,892,827...4,936,615 		JBrowse link
G C Glyr1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004955442:12,654,805...12,694,090
Ensembl chrNW_004955442:12,654,805...12,694,090 		JBrowse link
G R Glyr1 glyoxylate reductase 1 homolog ISS OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:11,038,577...11,074,093
Ensembl chr10:10,532,154...10,567,637 		JBrowse link
G M Glyr1 glyoxylate reductase 1 homolog (Arabidopsis) IAGP OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:4,831,766...4,867,780
Ensembl chr16:4,831,773...4,867,727 		JBrowse link
G H GLYR1 glyoxylate reductase 1 homolog ISS OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:4,803,203...4,847,288
Ensembl chr16:4,803,203...4,847,288 		JBrowse link
G N Ift172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933 		JBrowse link
G G IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:80,130,436...80,171,259 JBrowse link
G P IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G S Ift172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G D IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:21,389,462...21,426,970
Ensembl chr17:21,389,482...21,426,796 		JBrowse link
G B IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G C Ift172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G R Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G M Ift172 intraflagellar transport 172 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G H IFT172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G N Mks1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742 		JBrowse link
G G MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G P MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G S Mks1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		JBrowse link
G D MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		JBrowse link
G B MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G C Mks1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G R Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G M Mks1 MKS transition zone complex subunit 1 IAGP OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G H MKS1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr15:68,632,142...68,668,467
Ensembl chr15:68,632,197...68,665,258 		JBrowse link
G P NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr13:10,756,954...10,791,219
Ensembl chr13:10,756,926...10,791,210 		JBrowse link
G S Nr1d2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chrNW_004936473:15,624,597...15,646,875 JBrowse link
G D NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr23:19,758,907...19,787,725
Ensembl chr23:19,762,052...19,787,614 		JBrowse link
G B NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr 3:23,857,317...23,892,533
Ensembl chr 3:24,185,798...24,215,831 		JBrowse link
G C Nr1d2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chrNW_004955430:15,812,449...15,834,341
Ensembl chrNW_004955430:15,812,448...15,834,412 		JBrowse link
G R 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 chr15:9,955,034...9,981,329
Ensembl chr15:7,524,257...7,550,553 		JBrowse link
G M Nr1d2 nuclear receptor subfamily 1, group D, member 2 IAGP
ISO		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr14:4,230,549...4,265,639
Ensembl chr14:4,230,569...4,265,642 		JBrowse link
G H NR1D2 nuclear receptor subfamily 1 group D member 2 ISS
IAGP		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr 3:23,945,286...23,980,617
Ensembl chr 3:23,945,286...23,980,637 		JBrowse link
G N Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		JBrowse link
G P SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G S Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599 		JBrowse link
G D SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		JBrowse link
G B SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G C Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G R Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G M Shh sonic hedgehog IMP RGD PMID:19538633 RGD:12801428 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G H SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G N Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004624823:8,645,340...8,708,039
Ensembl chrNW_004624823:8,644,826...8,706,591 		JBrowse link
G G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr10:102,253,187...102,319,356
Ensembl chr10:102,255,453...102,319,330 		JBrowse link
G P 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 chr15:118,627,734...118,688,005
Ensembl chr15:118,627,497...118,688,396 		JBrowse link
G S Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
G D 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 chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248 		JBrowse link
G B SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
G C Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chrNW_004955453:16,724,286...16,784,129
Ensembl chrNW_004955453:16,719,931...16,784,709 		JBrowse link
G R Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:81,689,446...81,735,406
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G M Smarcal1 SNF2 related chromatin remodeling ATPase like 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G H SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G N Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chrNW_004624747:18,307,294...18,348,040
Ensembl chrNW_004624747:18,307,294...18,348,040 		JBrowse link
G G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr11:109,638,694...109,696,619
Ensembl chr11:109,638,715...109,689,177 		JBrowse link
G P TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr14:37,772,205...37,826,015
Ensembl chr14:37,774,171...37,825,401 		JBrowse link
G S Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chrNW_004936558:7,408,229...7,454,897
Ensembl chrNW_004936558:7,408,222...7,454,901 		JBrowse link
G D TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr26:11,462,541...11,549,699
Ensembl chr26:11,463,653...11,506,446 		JBrowse link
G B TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:111,954,222...112,009,261
Ensembl chr12:115,333,609...115,389,739 		JBrowse link
G C Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chrNW_004955455:16,133,130...16,217,894
Ensembl chrNW_004955455:16,132,975...16,217,953 		JBrowse link
G R Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G M Tbx5 T-box 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr 5:119,934,581...120,023,285
Ensembl chr 5:119,970,733...120,023,284 		JBrowse link
G H TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870 		JBrowse link
G P 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 chr13:66,075,926...66,093,986
Ensembl chr13:66,056,890...66,123,977 		JBrowse link
G D 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 chr20:8,441,994...8,453,131
Ensembl chr20:8,442,788...8,453,057 		JBrowse link
G B 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 3:9,744,055...9,758,627
Ensembl chr 3:9,981,934...9,996,250 		JBrowse link
G C 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 chrNW_004955561:1,314,299...1,327,300
Ensembl chrNW_004955561:1,314,299...1,327,300 		JBrowse link
G R 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 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G M Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409 		JBrowse link
G H ARPC4 actin related protein 2/3 complex subunit 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G H ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
G N Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996 		JBrowse link
G G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G P ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G S Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		JBrowse link
G D ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G B ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		JBrowse link
G C Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907 		JBrowse link
G R Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665 		JBrowse link
G M Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G H ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G N 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 chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617 		JBrowse link
G 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 chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G P 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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G S 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 chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736 		JBrowse link
G D 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 chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G B 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 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G C 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 chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618 		JBrowse link
G R 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 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G M Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G H BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G N Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,364,870...4,381,581
Ensembl chrNW_004624731:4,364,565...4,383,157 		JBrowse link
G G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390 		JBrowse link
G P BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445 		JBrowse link
G S Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,419,873...3,436,119
Ensembl chrNW_004936602:3,420,445...3,436,119 		JBrowse link
G D BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,493,183...8,508,785
Ensembl chr20:8,493,167...8,506,449 		JBrowse link
G B BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,684,091...9,700,376
Ensembl chr 3:9,922,769...9,939,016 		JBrowse link
G C Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015 		JBrowse link
G R 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 M Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821 		JBrowse link
G H BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G N Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,388,373...4,399,762
Ensembl chrNW_004624731:4,383,927...4,399,369 		JBrowse link
G G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		JBrowse link
G P CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,044,713...66,055,290
Ensembl chr13:66,044,720...66,055,295 		JBrowse link
G S Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,402,559...3,413,323
Ensembl chrNW_004936602:3,401,005...3,414,935 		JBrowse link
G D CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,475,902...8,486,214
Ensembl chr20:8,475,716...8,486,214 		JBrowse link
G B CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,708,782...9,721,433
Ensembl chr 3:9,945,609...9,959,560 		JBrowse link
G C Camk1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,282,970...1,292,710
Ensembl chrNW_004955561:1,282,970...1,294,972 		JBrowse link
G R Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:146,481,196...146,492,081 		JBrowse link
G M Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945 		JBrowse link
G H CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992 		JBrowse link
G N Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G P CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G S Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:4,264,896...4,278,160
Ensembl chrNW_004936602:4,264,889...4,278,161 		JBrowse link
G D CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G B CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942 		JBrowse link
G C Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G R Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G M Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G H CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G N Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894 		JBrowse link
G 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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G P CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703 		JBrowse link
G S Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,312,146...3,323,009
Ensembl chrNW_004936602:3,313,208...3,322,604 		JBrowse link
G D CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		JBrowse link
G B 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 3:9,811,995...9,836,069
Ensembl chr 3:10,048,554...10,173,107 		JBrowse link
G C Cidec cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,363,907...1,376,144 JBrowse link
G R 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 4:148,124,924...148,137,806
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G M Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
G H CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G N Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,341,091...4,363,112
Ensembl chrNW_004624731:4,342,172...4,362,931 		JBrowse link
G G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,714,168...45,738,368 JBrowse link
G P CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,994,369...66,019,080
Ensembl chr13:65,995,534...66,019,077 		JBrowse link
G S Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,439,172...3,462,951
Ensembl chrNW_004936602:3,438,888...3,463,510 		JBrowse link
G D CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,511,267...8,529,630
Ensembl chr20:8,511,350...8,529,473 		JBrowse link
G B CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,655,280...9,682,266
Ensembl chr 3:9,893,662...9,920,728 		JBrowse link
G C Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,238,916...1,258,000
Ensembl chrNW_004955561:1,238,862...1,258,045 		JBrowse link
G R 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 M Cpne9 copine family member IX ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588 		JBrowse link
G H CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908 		JBrowse link
G N 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
G 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G P 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G S 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		JBrowse link
G D 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr20:8,333,911...8,342,429 JBrowse link
G B 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr 3:9,878,265...9,889,826 JBrowse link
G C 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G R 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G M 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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G H CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
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:9536098 PMID:11376440 PMID:12632326 PMID:15857420 PMID:16199547 More... NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G N 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 chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602 		JBrowse link
G 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 chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712 		JBrowse link
G P 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 chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935 		JBrowse link
G S 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 chrNW_004936602:3,220,545...3,239,913
Ensembl chrNW_004936602:3,220,253...3,240,050 		JBrowse link
G D 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 chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426 		JBrowse link
G B 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 3:9,907,446...9,932,140
Ensembl chr 3:10,256,276...10,280,626 		JBrowse link
G C 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 chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988 		JBrowse link
G R 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 4:148,218,686...148,234,595
Ensembl chr 4:146,663,067...146,679,029 		JBrowse link
G M Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613 		JBrowse link
G H EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G N Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765 		JBrowse link
G G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G P FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		JBrowse link
G S Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868 		JBrowse link
G D FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G B FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190 		JBrowse link
G C Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		JBrowse link
G R Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G M Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G H FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G N Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071 		JBrowse link
G G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		JBrowse link
G P FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		JBrowse link
G S Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044 		JBrowse link
G D FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G B FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702 		JBrowse link
G C Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		JBrowse link
G R Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G M Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G H FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G N Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:5,257,813...5,262,878
Ensembl chrNW_004624731:5,257,830...5,262,473 		JBrowse link
G G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G P GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G D GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G B GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,221,829...10,229,229
Ensembl chr 3:10,573,537...10,580,723 		JBrowse link
G C Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812 		JBrowse link
G R Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G M Ghrl ghrelin ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841 		JBrowse link
G H GHRL ghrelin and obestatin prepropeptide IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G H GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903 		JBrowse link
G N Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624773:18,088,942...19,110,838
Ensembl chrNW_004624773:18,089,300...19,109,716 		JBrowse link
G G GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:42,901,451...43,779,815 JBrowse link
G P GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:63,318,002...64,203,982
Ensembl chr13:63,318,171...64,203,173 		JBrowse link
G S Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:5,111,406...5,488,506
Ensembl chrNW_004936602:5,110,995...5,488,555 		JBrowse link
G D GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:10,230,568...11,058,693
Ensembl chr20:10,230,557...11,058,703 		JBrowse link
G B GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,811,005...7,691,344
Ensembl chr 3:6,907,180...7,933,536 		JBrowse link
G C Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955421:5,723,662...6,542,557
Ensembl chrNW_004955421:5,724,797...6,542,475 		JBrowse link
G R Grm7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:145,286,714...146,169,099
Ensembl chr 4:143,731,259...144,612,344 		JBrowse link
G M Grm7 glutamate receptor, metabotropic 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:110,622,304...111,544,191
Ensembl chr 6:110,622,542...111,544,191 		JBrowse link
G H GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G N Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858 		JBrowse link
G G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164 		JBrowse link
G P IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,179,298...66,194,750 JBrowse link
G S Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,267,397...3,281,985
Ensembl chrNW_004936602:3,267,425...3,282,040 		JBrowse link
G D IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387 		JBrowse link
G B IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,861,423...9,878,154
Ensembl chr 3:10,210,241...10,226,796 		JBrowse link
G C Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023 		JBrowse link
G R Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,174,573...148,187,071
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G M Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101 		JBrowse link
G H IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,929,339...45,943,749 JBrowse link
G P IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,164,492...66,177,967 JBrowse link
G S Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,282,792...3,294,396
Ensembl chrNW_004936602:3,283,294...3,294,324 		JBrowse link
G D IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658 		JBrowse link
G B IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,846,319...9,860,735
Ensembl chr 3:10,195,209...10,208,958 		JBrowse link
G C Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999 		JBrowse link
G R Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,160,384...148,173,830
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G M Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719 		JBrowse link
G H IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G N Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481 		JBrowse link
G G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G P IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827 		JBrowse link
G S Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,073,910...3,129,344
Ensembl chrNW_004936602:3,073,889...3,129,408 		JBrowse link
G D IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G B IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G C Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197 		JBrowse link
G R Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G M Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G H IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250 		JBrowse link
G P JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,154,855...66,158,329 JBrowse link
G S Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555 		JBrowse link
G D JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		JBrowse link
G B JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,835,123...9,838,398
Ensembl chr 3:10,183,760...10,187,064 		JBrowse link
G C Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107 		JBrowse link
G R Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,147,213...148,151,915
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G M Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G H JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G N Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,194,321...4,222,400
Ensembl chrNW_004624731:4,194,321...4,222,105 		JBrowse link
G G LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,502,763...45,556,828 JBrowse link
G P LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,867,124...65,920,887
Ensembl chr13:65,869,652...65,919,781 		JBrowse link
G S Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,532,979...3,564,062
Ensembl chrNW_004936602:3,532,005...3,564,680 		JBrowse link
G D LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,630,981...8,663,918
Ensembl chr20:8,630,747...8,660,389 		JBrowse link
G B LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,453,628...9,506,434
Ensembl chr 3:9,695,091...9,745,722 		JBrowse link
G C Lhfpl4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,066,799...1,142,099
Ensembl chrNW_004955561:1,066,799...1,142,099 		JBrowse link
G R 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 M Lhfpl4 lipoma HMGIC fusion partner-like protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,145,048...113,172,345
Ensembl chr 6:113,145,051...113,172,345 		JBrowse link
G H LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822 		JBrowse link
G H LINC00312 long intergenic non-protein coding RNA 312 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,571,782...8,574,668 JBrowse link
G N Lmcd1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,158,682...3,218,253
Ensembl chrNW_004624731:3,158,561...3,218,658 		JBrowse link
G G LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,531,441...44,598,612 JBrowse link
G P LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:64,933,692...64,994,204
Ensembl chr13:64,933,700...64,994,228 		JBrowse link
G S Lmcd1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:4,420,600...4,478,384
Ensembl chrNW_004936602:4,420,597...4,478,384 		JBrowse link
G D LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,524,393...9,582,939
Ensembl chr20:9,524,413...9,583,529 		JBrowse link
G B LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,448,143...8,521,214 JBrowse link
G C Lmcd1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:151,315...213,904
Ensembl chrNW_004955561:151,308...214,476 		JBrowse link
G R Lmcd1 LIM and cysteine-rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:146,948,993...147,007,878
Ensembl chr 4:145,393,145...145,452,046 		JBrowse link
G M Lmcd1 LIM and cysteine-rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,250,747...112,307,384
Ensembl chr 6:112,250,719...112,307,386 		JBrowse link
G H LMCD1 LIM and cysteine rich domains 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668 		JBrowse link
G N Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,290,107...4,340,978
Ensembl chrNW_004624731:4,289,938...4,340,980 		JBrowse link
G G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G P MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820 		JBrowse link
G S Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,466,547...3,513,628
Ensembl chrNW_004936602:3,466,549...3,513,628 		JBrowse link
G D MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,530,682...8,576,911
Ensembl chr20:8,530,711...8,576,913 		JBrowse link
G B MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,600,866...9,653,860
Ensembl chr 3:9,839,821...9,892,055 		JBrowse link
G C Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,195,689...1,237,852
Ensembl chrNW_004955561:1,195,650...1,237,997 		JBrowse link
G R 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 M Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353 		JBrowse link
G H MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G N Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,383,000...4,388,486
Ensembl chrNW_004624731:4,383,434...4,388,196 		JBrowse link
G G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,757,414...45,763,690 JBrowse link
G P OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,038,669...66,045,478 JBrowse link
G S Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831 		JBrowse link
G D OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G B OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G C Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793 		JBrowse link
G R Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G M Ogg1 8-oxoguanine DNA-glycosylase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G H OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G N Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G P OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G S Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:4,241,743...4,259,866
Ensembl chrNW_004936602:4,241,737...4,260,549 		JBrowse link
G D OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G B OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,701,344...8,721,706 JBrowse link
G C Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G R Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G M Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		JBrowse link
G H OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G N Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677 		JBrowse link
G 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 chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076 		JBrowse link
G P PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449 		JBrowse link
G S Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004936602:3,252,655...3,257,400
Ensembl chrNW_004936602:3,248,628...3,257,291 		JBrowse link
G D PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954 		JBrowse link
G B 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 3:9,890,336...9,897,263
Ensembl chr 3:10,238,720...10,246,127 		JBrowse link
G C Prrt3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670 		JBrowse link
G R 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 M Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892 		JBrowse link
G H PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G N Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,510,430...3,698,859
Ensembl chrNW_004624731:3,597,779...3,697,138 		JBrowse link
G G RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,878,015...44,960,610
Ensembl chr22:44,875,292...44,960,089 		JBrowse link
G P RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,253,416...65,359,506
Ensembl chr13:65,253,424...65,359,174 		JBrowse link
G S Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:4,030,353...4,134,119
Ensembl chrNW_004936602:4,030,459...4,081,931 		JBrowse link
G D RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,163,322...9,271,224
Ensembl chr20:9,163,428...9,263,730 		JBrowse link
G B RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,832,910...8,918,067
Ensembl chr 3:9,076,500...9,161,585 		JBrowse link
G C Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:463,586...602,354
Ensembl chrNW_004955561:464,343...599,789 		JBrowse link
G R Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,291,463...147,376,904
Ensembl chr 4:145,735,654...145,821,069 		JBrowse link
G M Rad18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,596,812...112,673,650
Ensembl chr 6:112,596,811...112,673,647 		JBrowse link
G H RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773 		JBrowse link
G N Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,463,848...4,467,541
Ensembl chrNW_004624731:4,463,980...4,467,491 		JBrowse link
G G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117 		JBrowse link
G P RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,126,126...66,133,774
Ensembl chr13:66,126,124...66,133,747 		JBrowse link
G S Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,330,160...3,355,805
Ensembl chrNW_004936602:3,330,142...3,335,697 		JBrowse link
G D RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,406,549...8,414,029
Ensembl chr20:8,406,571...8,413,004 		JBrowse link
G B RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,788,950...9,795,189
Ensembl chr 3:10,025,320...10,031,639 		JBrowse link
G C Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,358,003...1,361,634
Ensembl chrNW_004955561:1,358,197...1,361,619 		JBrowse link
G R 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 M Rpusd3 RNA pseudouridylate synthase domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301 		JBrowse link
G H RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602 		JBrowse link
G N 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 chrNW_004624731:5,194,852...5,217,821
Ensembl chrNW_004624731:5,194,961...5,217,821 		JBrowse link
G 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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723 		JBrowse link
G P 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 chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384 		JBrowse link
G S 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 chrNW_004936602:3,013,490...3,030,489
Ensembl chrNW_004936602:3,013,337...3,030,486 		JBrowse link
G D 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 chr20:8,041,485...8,075,078
Ensembl chr20:8,041,544...8,075,076 		JBrowse link
G B 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 3:10,237,101...10,257,694
Ensembl chr 3:10,588,644...10,608,754 		JBrowse link
G C 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 chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862 		JBrowse link
G R 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 4:148,433,344...148,446,735
Ensembl chr 4:146,875,524...146,891,173 		JBrowse link
G M Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704 		JBrowse link
G H SEC13 SEC13 homolog, nuclear pore and COPII coat complex component IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112 		JBrowse link
G N Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555 		JBrowse link
G G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G P SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506 		JBrowse link
G S Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G D SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G B SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G C Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G R Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G M Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G H SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G N Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624943:632,534...662,924
Ensembl chrNW_004624943:631,632...662,902 		JBrowse link
G G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844 		JBrowse link
G P SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107 		JBrowse link
G S Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:2,359,151...2,397,346
Ensembl chrNW_004936602:2,357,607...2,379,061 		JBrowse link
G D SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287 		JBrowse link
G B SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624 		JBrowse link
G C Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389 		JBrowse link
G R Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:147,466,965...147,482,293 		JBrowse link
G M Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493 		JBrowse link
G H SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G N Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624943:694,447...803,993
Ensembl chrNW_004624943:692,513...804,023 		JBrowse link
G G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088 		JBrowse link
G P SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907 		JBrowse link
G S Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:2,437,653...2,564,309
Ensembl chrNW_004936602:2,439,813...2,564,313 		JBrowse link
G D SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564 		JBrowse link
G B SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948 		JBrowse link
G C Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690 		JBrowse link
G R Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443 		JBrowse link
G M Slc6a11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913 		JBrowse link
G H SLC6A11 solute carrier family 6 member 11 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G N Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,707,934...3,937,175
Ensembl chrNW_004624731:3,712,361...3,824,206 		JBrowse link
G 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 chr22:44,979,675...45,355,753
Ensembl chr22:44,984,615...45,246,209 		JBrowse link
G P SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,367,596...65,759,892
Ensembl chr13:65,367,608...65,721,405 		JBrowse link
G S Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,770,323...4,020,043
Ensembl chrNW_004936602:3,770,259...4,016,536 		JBrowse link
G D SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,894,150...9,147,060
Ensembl chr20:8,894,155...9,142,066 		JBrowse link
G B 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 3:8,935,179...9,315,264
Ensembl chr 3:9,183,641...9,327,559 		JBrowse link
G C Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:612,152...835,209
Ensembl chrNW_004955561:617,001...835,221 		JBrowse link
G R 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 M Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,694,932...112,924,466
Ensembl chr 6:112,694,932...112,924,227 		JBrowse link
G H SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053 		JBrowse link
G M Ssu2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:112,336,283...112,365,160
Ensembl chr 6:112,336,285...112,364,984 		JBrowse link
G N Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:3,265,644...3,289,618
Ensembl chrNW_004624731:3,258,226...3,288,523 		JBrowse link
G G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		JBrowse link
G P SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369 		JBrowse link
G S Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:4,343,667...4,367,705
Ensembl chrNW_004936602:4,348,667...4,364,162 		JBrowse link
G D SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986 		JBrowse link
G B SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,573,866...8,599,956
Ensembl chr 3:8,818,553...8,844,625 		JBrowse link
G C Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:254,876...274,581
Ensembl chrNW_004955561:244,675...274,551 		JBrowse link
G R Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:147,058,767...147,077,640
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
G H SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040 		JBrowse link
G N Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,409,550...4,420,498
Ensembl chrNW_004624731:4,408,918...4,419,545 		JBrowse link
G G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019 		JBrowse link
G P TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023 		JBrowse link
G S Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,375,971...3,388,787
Ensembl chrNW_004936602:3,376,033...3,388,820 		JBrowse link
G D TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,453,269...8,464,921
Ensembl chr20:8,453,489...8,464,913 		JBrowse link
G B TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,462...9,744,513
Ensembl chr 3:9,969,550...9,982,389 		JBrowse link
G C Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,304,222...1,314,092
Ensembl chrNW_004955561:1,304,232...1,348,121 		JBrowse link
G R Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,065,859...148,077,347
Ensembl chr 4:146,510,246...146,521,590 		JBrowse link
G M Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844 		JBrowse link
G H TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011 		JBrowse link
G N Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:5,263,741...5,289,601
Ensembl chrNW_004624731:5,262,848...5,289,717 		JBrowse link
G G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710 		JBrowse link
G P TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980 		JBrowse link
G S Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,047,798...3,072,216
Ensembl chrNW_004936602:3,048,006...3,072,684 		JBrowse link
G D TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,101,994...8,131,578 JBrowse link
G B TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,184,220...10,217,099
Ensembl chr 3:10,536,852...10,568,824 		JBrowse link
G C Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407 		JBrowse link
G R 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 M Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030 		JBrowse link
G H TATDN2 TatD DNase domain containing 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218 		JBrowse link
G N Thumpd3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004624731:4,052,618...4,078,639
Ensembl chrNW_004624731:4,052,631...4,077,486 		JBrowse link
G G THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,355,889...45,378,134
Ensembl chr22:45,355,579...45,377,941 		JBrowse link
G P THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:65,720,556...65,747,989
Ensembl chr13:65,721,475...65,747,076 		JBrowse link
G S Thumpd3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004936602:3,664,354...3,689,130
Ensembl chrNW_004936602:3,661,967...3,689,159 		JBrowse link
G D THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,779,442...8,802,286
Ensembl chr20:8,779,442...8,802,215 		JBrowse link
G B THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157 		JBrowse link
G C Thumpd3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:933,168...956,457
Ensembl chrNW_004955561:933,173...956,457 		JBrowse link
G R 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 M Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,023,292...113,045,239
Ensembl chr 6:113,023,186...113,045,234 		JBrowse link
G H THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791 		JBrowse link
G G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,817,048...45,843,878 JBrowse link
G P TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr13:66,094,069...66,123,984
Ensembl chr13:66,056,890...66,123,977 		JBrowse link
G D TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr20:8,414,289...8,439,071
Ensembl chr20:8,415,723...8,439,056 		JBrowse link
G B TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,759,871...9,786,690
Ensembl chr 3:9,999,144...10,035,633 		JBrowse link
G C Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chrNW_004955561:1,330,378...1,353,217 JBrowse link
G R Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 4:148,088,575...148,113,526
Ensembl chr 4:146,533,953...146,557,889 		JBrowse link
G M Ttll3 tubulin tyrosine ligase-like family, member 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548 		JBrowse link
G H TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138 		JBrowse link
G N Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
G 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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G P VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
G S Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G D VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G B 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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G C Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G R 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 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G M Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G H VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G 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 chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G P GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G S Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G D GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G B GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G C Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G R Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G M Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G H GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624758:25,129,922...25,180,180
Ensembl chrNW_004624758:25,129,853...25,181,761 		JBrowse link
G 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 chr 8:7,547,200...7,618,645
Ensembl chr 8:7,547,299...7,569,188 		JBrowse link
G P 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 chr14:14,688,489...14,745,946
Ensembl chr14:14,688,943...14,745,947 		JBrowse link
G S 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 chrNW_004936675:3,228,982...3,246,617
Ensembl chrNW_004936675:3,229,154...3,246,292 		JBrowse link
G D 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 chr25:26,336,253...26,357,494
Ensembl chr25:26,336,892...26,358,015 		JBrowse link
G B 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 chr 8:7,637,680...7,708,914 JBrowse link
G C 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 chrNW_004955403:52,825,397...52,874,007
Ensembl chrNW_004955403:52,832,604...52,874,264 		JBrowse link
G R 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 chr15:41,802,701...41,841,004
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G M Blk B lymphoid kinase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,610,286...63,654,636
Ensembl chr14:63,610,285...63,654,486 		JBrowse link
G H BLK BLK proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G N 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 chrNW_004624758:25,366,120...25,384,554
Ensembl chrNW_004624758:25,366,840...25,373,954 		JBrowse link
G 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 chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854 		JBrowse link
G P CTSB cathepsin B ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877 		JBrowse link
G D 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 chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801 		JBrowse link
G B 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 chr 8:7,333,498...7,359,264 JBrowse link
G C 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 chrNW_004955403:53,086,236...53,100,217
Ensembl chrNW_004955403:53,085,574...53,093,809 		JBrowse link
G R 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 chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G M Ctsb cathepsin B ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372 		JBrowse link
G H CTSB cathepsin B IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533 		JBrowse link
G N Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chrNW_004624758:25,340,142...25,363,669
Ensembl chrNW_004624758:25,340,074...25,366,299 		JBrowse link
G G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,272,580...7,306,859
Ensembl chr 8:7,271,509...7,306,760 		JBrowse link
G P FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,074...15,016,227 		JBrowse link
G S Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chrNW_004936628:3,599,435...3,600,061 JBrowse link
G D FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr25:26,060,031...26,093,515
Ensembl chr25:26,060,386...26,093,582 		JBrowse link
G B FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,363,250...7,399,863 JBrowse link
G C Fdft1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chrNW_004955403:53,068,011...53,081,499
Ensembl chrNW_004955403:53,067,637...53,081,499 		JBrowse link
G R 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 chr15:41,588,114...41,616,168
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G M Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,382,599...63,419,136
Ensembl chr14:63,382,599...63,417,027 		JBrowse link
G H FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
G N 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 chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G 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 chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G P GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G S 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 chrNW_004936675:3,408,549...3,420,828 JBrowse link
G D 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 chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G B 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 chr 8:7,442,921...7,526,731 JBrowse link
G C 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 chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G R 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 chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G M Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G H GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G H LOC110120689 VISTA enhancer hs508 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,746,673...11,747,186 JBrowse link
G H LOC110121280 VISTA enhancer hs2204 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,699,806...11,703,497 JBrowse link
G H LOC110121281 VISTA enhancer hs2205 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,739,275...11,744,047 JBrowse link
G H LOC111365225 HNF4 motif-containing MPRA enhancer 121 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,718,788...11,718,932 JBrowse link
G H LOC129999900 ATAC-STARR-seq lymphoblastoid silent region 18936 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,704,234...11,704,283 JBrowse link
G H LOC129999901 ATAC-STARR-seq lymphoblastoid active region 27031 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,736,400...11,736,449 JBrowse link
G N 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 chrNW_004624758:25,324,115...25,334,009
Ensembl chrNW_004624758:25,325,480...25,333,233 		JBrowse link
G 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 chr 8:7,319,721...7,338,683
Ensembl chr 8:7,319,585...7,338,602 		JBrowse link
G P 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 chr14:14,945,129...14,966,305
Ensembl chr14:14,945,135...14,966,291 		JBrowse link
G S 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...
G D 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 chr25:26,102,652...26,117,418
Ensembl chr25:26,103,111...26,117,544 		JBrowse link
G B 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 chr 8:7,415,540...7,433,270 JBrowse link
G C 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 chrNW_004955403:53,037,008...53,044,996
Ensembl chrNW_004955403:53,037,743...53,048,723 		JBrowse link
G R 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
G M Neil2 nei like 2 (E. coli) ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr14:63,419,888...63,431,604
Ensembl chr14:63,419,892...63,431,305 		JBrowse link
G H NEIL2 nei like DNA glycosylase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:11,769,710...11,787,345
Ensembl chr 8:11,769,639...11,787,345 		JBrowse link
G H SNORA99 small nucleolar RNA, H/ACA box 99 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,705,362...11,705,558 JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G 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 chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G P 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 chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G S 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 chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399 		JBrowse link
G D 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 chr 7:65,932,114...65,962,574 JBrowse link
G B 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 chr18:15,411,764...15,444,402 JBrowse link
G R 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 chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G M Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G H GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G N Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chrNW_004624770:9,936,202...10,051,018
Ensembl chrNW_004624770:9,941,706...10,051,024 		JBrowse link
G G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:58,628,381...58,759,692
Ensembl chr18:58,633,926...58,759,609 		JBrowse link
G P MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 6:106,917,995...107,043,144
Ensembl chr 6:106,917,718...107,040,079 		JBrowse link
G S Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chrNW_004936550:1,439,652...1,577,804
Ensembl chrNW_004936550:1,439,646...1,573,637 		JBrowse link
G D MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 7:66,173,414...66,289,477
Ensembl chr 7:66,178,594...66,289,491 		JBrowse link
G B MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:14,944,432...15,113,313
Ensembl chr18:18,641,135...18,740,813 		JBrowse link
G C Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chrNW_004955402:10,392,308...10,502,576
Ensembl chrNW_004955402:10,392,308...10,502,576 		JBrowse link
G R Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:2,075,309...2,199,774
Ensembl chr18:1,802,519...1,920,689 		JBrowse link
G M Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,725,523...10,822,969
Ensembl chr18:10,725,548...10,818,704 		JBrowse link
G H MIB1 MIB E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G R Mir1 microRNA 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:2,160,327...2,160,413 JBrowse link
G D MIR1-2 microRNA mir-1-2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 7:66,214,380...66,214,438
Ensembl chr 7:66,214,366...66,214,450 		JBrowse link
G H MIR1-2 microRNA 1-2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088 		JBrowse link
G D MIR133A microRNA mir-133a ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 7:66,217,486...66,217,572
Ensembl chr 7:66,217,486...66,217,572 		JBrowse link
G M Mir133a-1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,782,909...10,782,976
Ensembl chr18:10,782,909...10,782,976 		JBrowse link
G P MIR133A-2 microRNA mir-133a-2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr 6:106,998,899...106,998,971
Ensembl chr 6:106,998,896...106,998,982 		JBrowse link
G R Mir133a1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:2,157,872...2,157,958 JBrowse link
G H MIR133A1 microRNA 133a-1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785 		JBrowse link
G M Mir1a-2 microRNA 1a-2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:10,785,481...10,785,552
Ensembl chr18:10,785,481...10,785,552 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G 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 chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G P 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 chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G S 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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G D 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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G B 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 chr 6:119,213,513...119,227,617 JBrowse link
G C 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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G R 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 chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G M Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G H GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
Common Ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G P FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G S Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729 		JBrowse link
G D FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G B FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G C Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056 		JBrowse link
G R Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G M Flt4 FMS-like tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G H FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G H LOC126807632 CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 IAGP ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 ClinVar PMID:25741868 NCBI chr 5:180,619,831...180,621,030 JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 9930012K11Rik RIKEN cDNA 9930012K11 gene ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,391,854...70,396,951
Ensembl chr14:70,391,854...70,396,951 		JBrowse link
G N Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006 		JBrowse link
G G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778 		JBrowse link
G P ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650 		JBrowse link
G S Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152 		JBrowse link
G D ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G B ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012 		JBrowse link
G C Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917 		JBrowse link
G R Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G M Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652 		JBrowse link
G H ADD1 adducin 1 IAGP DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076 		JBrowse link
G N Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,121,125...18,163,142
Ensembl chrNW_004624758:18,121,125...18,163,044 		JBrowse link
G G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,700,664...20,748,775
Ensembl chr 8:20,701,390...20,725,210 		JBrowse link
G P BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,874,281...6,926,950
Ensembl chr14:6,874,300...6,889,133 		JBrowse link
G D BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,615,683...34,659,739
Ensembl chr25:34,615,249...34,659,755 		JBrowse link
G B BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,870,784...21,919,077
Ensembl chr 8:18,809,582...18,858,912 		JBrowse link
G C Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,042,885...46,085,029
Ensembl chrNW_004955403:46,042,885...46,085,029 		JBrowse link
G R Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,583,474...51,622,329
Ensembl chr15:45,173,732...45,212,604 		JBrowse link
G M Bin3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,337,538...70,375,413
Ensembl chr14:70,337,554...70,375,655 		JBrowse link
G H BIN3 bridging integrator 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,620,418...22,669,121
Ensembl chr 8:22,620,418...22,669,148 		JBrowse link
G N Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,745,344...17,788,183
Ensembl chrNW_004624758:17,744,821...17,788,510 		JBrowse link
G G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,234,242...20,281,768
Ensembl chr 8:20,234,184...20,283,467 		JBrowse link
G P BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,443,773...6,489,066
Ensembl chr14:6,443,912...6,489,063 		JBrowse link
G S Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,990,822...6,023,864
Ensembl chrNW_004936555:5,990,836...6,023,878 		JBrowse link
G D BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,043,594...35,087,282
Ensembl chr25:35,020,751...35,087,545 		JBrowse link
G B BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,410,139...21,457,144
Ensembl chr 8:18,349,836...18,396,796 		JBrowse link
G C Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,660,591...45,693,724
Ensembl chrNW_004955403:45,660,588...45,693,724 		JBrowse link
G R Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G M Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674 		JBrowse link
G H BMP1 bone morphogenetic protein 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G R C15h8orf58 similar to human chromosome 8 open reading frame 58 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,228,615...45,235,274
Ensembl chr15:45,228,615...45,233,254 		JBrowse link
G D C25H8orf58 chromosome 25 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,674,918...34,679,389
Ensembl chr25:34,674,756...34,679,454 		JBrowse link
G B C7H8orf58 chromosome 7 C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,849,622...21,854,234
Ensembl chr 8:18,783,612...18,792,386 		JBrowse link
G H C8orf58 chromosome 8 open reading frame 58 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,599,599...22,604,142
Ensembl chr 8:22,599,599...22,604,150 		JBrowse link
G N Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,106,621...18,120,910
Ensembl chrNW_004624758:18,106,606...18,120,907 		JBrowse link
G G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,685,482...20,700,424
Ensembl chr 8:20,686,504...20,699,707 		JBrowse link
G P CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,860,052...6,874,334
Ensembl chr14:6,859,664...6,874,327 		JBrowse link
G S Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,341,455...6,356,677
Ensembl chrNW_004936555:6,341,390...6,356,668 		JBrowse link
G D CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,660,026...34,674,129
Ensembl chr25:34,660,553...34,674,037 		JBrowse link
G B CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,854,803...21,870,556
Ensembl chr 8:18,794,027...18,808,571 		JBrowse link
G C Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,027,997...46,042,154
Ensembl chrNW_004955403:46,027,998...46,042,154 		JBrowse link
G R Ccar2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,622,519...51,637,911
Ensembl chr15:45,212,803...45,227,636 		JBrowse link
G M Ccar2 cell cycle activator and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,375,617...70,391,272
Ensembl chr14:70,375,613...70,391,260 		JBrowse link
G H CCAR2 cell cycle and apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,604,757...22,621,514
Ensembl chr 8:22,604,757...22,620,964 		JBrowse link
G N Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,524,338...18,538,909
Ensembl chrNW_004624758:18,524,290...18,538,083 		JBrowse link
G G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,370,334...21,390,036
Ensembl chr 8:21,373,968...21,387,698 		JBrowse link
G P CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,390,066...7,403,657
Ensembl chr14:7,390,061...7,403,654 		JBrowse link
G S Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,730,284...6,757,816
Ensembl chrNW_004936555:6,745,738...6,756,467 		JBrowse link
G D CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,242,671...34,257,268
Ensembl chr25:34,244,022...34,257,211 		JBrowse link
G B CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,497,479...22,513,005
Ensembl chr 8:19,434,829...19,450,221 		JBrowse link
G C Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,467,463...46,478,897
Ensembl chrNW_004955403:46,467,463...46,478,897 		JBrowse link
G R Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,200,759...51,215,992
Ensembl chr15:44,790,996...44,806,216 		JBrowse link
G M Chmp7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,954,428...69,970,019
Ensembl chr14:69,954,449...69,969,990 		JBrowse link
G H CHMP7 charged multivesicular body protein 7 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,243,637...23,261,999
Ensembl chr 8:23,243,637...23,262,000 		JBrowse link
G N CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,099,118...18,106,056
Ensembl chrNW_004624758:18,101,772...18,105,212 		JBrowse link
G G CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,680,207...20,684,351
Ensembl chr 8:20,680,342...20,684,332 		JBrowse link
G S CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,336,092...6,340,862
Ensembl chrNW_004936555:6,336,522...6,340,032 		JBrowse link
G C CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,024,484...46,027,834
Ensembl chrNW_004955403:46,023,610...46,026,997 		JBrowse link
G N Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,640,938...17,672,709
Ensembl chrNW_004624758:17,655,803...17,671,666 		JBrowse link
G G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,120,054...20,154,368
Ensembl chr 8:20,125,703...20,152,985 		JBrowse link
G P DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,315,643...6,346,722
Ensembl chr14:6,321,870...6,346,865 		JBrowse link
G S Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,884,746...5,911,171
Ensembl chrNW_004936555:5,896,471...5,910,098 		JBrowse link
G D DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,163,867...35,188,761
Ensembl chr25:35,165,876...35,176,754 		JBrowse link
G B DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,293,759...21,327,600
Ensembl chr 8:18,251,886...18,266,229 		JBrowse link
G C Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,566,180...45,579,062
Ensembl chrNW_004955403:45,566,180...45,578,079 		JBrowse link
G R Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,087,667...52,111,956
Ensembl chr15:45,677,977...45,705,601 		JBrowse link
G M Dmtn dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,839,624...70,873,488
Ensembl chr14:70,838,703...70,873,418 		JBrowse link
G H DMTN dematin actin binding protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,048,931...22,082,525
Ensembl chr 8:22,048,995...22,082,527 		JBrowse link
G N Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,180,787...18,186,148
Ensembl chrNW_004624758:18,180,123...18,186,196 		JBrowse link
G G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,767,219...20,772,838
Ensembl chr 8:20,767,224...20,772,682 		JBrowse link
G P EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,943,184...6,948,507
Ensembl chr14:6,944,935...6,948,580 		JBrowse link
G S Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,347,446...6,393,784
Ensembl chrNW_004936555:6,356,691...6,393,825
Ensembl chrNW_004936555:6,356,691...6,393,825 		JBrowse link
G D EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,591,691...34,597,144
Ensembl chr25:34,591,863...34,594,346 		JBrowse link
G B EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,937,516...21,943,646
Ensembl chr 8:18,877,396...18,882,874 		JBrowse link
G C Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,105,447...46,108,149
Ensembl chrNW_004955403:46,105,447...46,108,149 		JBrowse link
G R Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,560,482...51,565,778
Ensembl chr15:45,150,567...45,154,627 		JBrowse link
G M Egr3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,314,766...70,320,062
Ensembl chr14:70,314,652...70,320,063 		JBrowse link
G H EGR3 early growth response 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,687,659...22,693,480
Ensembl chr 8:22,687,659...22,693,480 		JBrowse link
G N Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,670,609...18,697,594
Ensembl chrNW_004624758:18,670,041...18,697,619 		JBrowse link
G G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,528,520...21,574,330
Ensembl chr 8:21,543,888...21,574,311 		JBrowse link
G P ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,565,610...7,604,464
Ensembl chr14:7,565,604...7,594,057 		JBrowse link
G S Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,896,661...6,920,333
Ensembl chrNW_004936555:6,893,393...6,919,584 		JBrowse link
G D ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,032,104...34,067,772
Ensembl chr25:34,032,055...34,063,281 		JBrowse link
G B ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,678,746...22,707,408
Ensembl chr 8:19,571,337...19,635,150 		JBrowse link
G C Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,609,211...46,637,622
Ensembl chrNW_004955403:46,609,211...46,637,643 		JBrowse link
G R Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,630,878...44,658,654
Ensembl chr15:44,630,873...44,658,706 		JBrowse link
G M Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,574,600...69,604,191
Ensembl chr14:69,574,623...69,604,719 		JBrowse link
G H ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,429,162...23,457,647
Ensembl chr 8:23,385,783...23,457,695 		JBrowse link
G N Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,634,606...17,640,590
Ensembl chrNW_004624758:17,634,994...17,640,560 		JBrowse link
G G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,111,858...20,119,785
Ensembl chr 8:20,116,561...20,119,746 		JBrowse link
G P FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882 		JBrowse link
G S Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,869,156...5,877,674
Ensembl chrNW_004936555:5,872,586...5,878,099 		JBrowse link
G D FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,194,400...35,204,787
Ensembl chr25:35,194,394...35,199,792 		JBrowse link
G B FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,284,451...21,293,633
Ensembl chr 8:18,224,461...18,233,537 		JBrowse link
G C Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,544,114...45,548,659
Ensembl chrNW_004955403:45,544,114...45,548,659 		JBrowse link
G R Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,118,141...52,132,083
Ensembl chr15:45,711,998...45,717,063 		JBrowse link
G M Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,873,643...70,880,064
Ensembl chr14:70,873,643...70,879,708 		JBrowse link
G H FGF17 fibroblast growth factor 17 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G N Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,677,862...17,690,799
Ensembl chrNW_004624758:17,677,843...17,689,446 		JBrowse link
G G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,159,036...20,173,973
Ensembl chr 8:20,167,153...20,172,511 		JBrowse link
G P FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,360,333...6,376,941
Ensembl chr14:6,360,412...6,376,922 		JBrowse link
G S Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,918,354...5,928,036
Ensembl chrNW_004936555:5,918,339...5,928,539 		JBrowse link
G D FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,144,949...35,157,228
Ensembl chr25:35,146,390...35,162,394 		JBrowse link
G B FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,333,581...21,349,344
Ensembl chr 8:18,279,023...18,287,880 		JBrowse link
G C Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,587,970...45,597,700
Ensembl chrNW_004955403:45,587,970...45,597,700 		JBrowse link
G R Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,656,641...45,674,603
Ensembl chr15:45,656,647...45,674,105 		JBrowse link
G M Fhip2b FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,820,733...70,837,309
Ensembl chr14:70,820,736...70,837,275 		JBrowse link
G H FHIP2B FHF complex subunit HOOK interacting protein 2B IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,089,150...22,104,911
Ensembl chr 8:22,089,150...22,104,911 		JBrowse link
G N Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		JBrowse link
G G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144 		JBrowse link
G P FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G S Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039 		JBrowse link
G D FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G B FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G C Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512 		JBrowse link
G R Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G M Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect
DNA:misense mutations:cds:multiple		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G H FOXH1 forkhead box H1 IAGP DNA:misense mutations:cds:multiple
ClinVar Annotator: match by term: Conotruncal defect		 ClinVar
RGD		 PMID:25741868 PMID:32003456 PMID:32003456 RGD:155791676 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G N Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G P GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G S Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399 		JBrowse link
G D GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr 7:65,932,114...65,962,574 JBrowse link
G B GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G R Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G M Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G H GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29101065 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G N Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482 		JBrowse link
G G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700 		JBrowse link
G P HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,903...6,407,031 		JBrowse link
G S Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
G D HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		JBrowse link
G B HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151 		JBrowse link
G C Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,605,870...45,624,386
Ensembl chrNW_004955403:45,605,510...45,624,402 		JBrowse link
G R Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G M Hr lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988 		JBrowse link
G H HR HR lysine demethylase and nuclear receptor corepressor IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G N Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,729,290...17,737,677
Ensembl chrNW_004624758:17,726,018...17,737,740 		JBrowse link
G G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,216,373...20,226,744
Ensembl chr 8:20,216,372...20,225,599 		JBrowse link
G P LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,419,100...6,429,266
Ensembl chr14:6,419,592...6,428,563 		JBrowse link
G S Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,966,617...5,973,898
Ensembl chrNW_004936555:5,966,577...5,973,954 		JBrowse link
G D LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,097,464...35,105,930
Ensembl chr25:35,097,566...35,105,940 		JBrowse link
G B LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,391,765...21,401,770
Ensembl chr 8:18,330,815...18,340,403 		JBrowse link
G C Lgi3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,634,237...45,644,172
Ensembl chrNW_004955403:45,634,237...45,644,172 		JBrowse link
G R Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,605,611...45,612,739
Ensembl chr15:45,605,611...45,612,739 		JBrowse link
G M Lgi3 leucine-rich repeat LGI family, member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,765,982...70,775,764
Ensembl chr14:70,768,125...70,775,764 		JBrowse link
G H LGI3 leucine rich repeat LGI family member 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,146,830...22,156,806
Ensembl chr 8:22,146,830...22,157,084 		JBrowse link
G D LOC100688321 tumor necrosis factor receptor superfamily member 26-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr18:47,008,850...47,029,029 JBrowse link
G P LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,344,788...7,371,086 JBrowse link
G G LOC103215471 tumor necrosis factor receptor superfamily member 10D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,242,378...21,300,551 JBrowse link
G G LOC103215717 uncharacterized LOC103215717 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,172,978...21,216,474 JBrowse link
G N Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,567,367...18,644,528
Ensembl chrNW_004624758:18,568,607...18,621,785 		JBrowse link
G G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854 		JBrowse link
G P LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,435,861...7,540,699
Ensembl chr14:7,435,867...7,540,704 		JBrowse link
G S Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,781,563...6,865,662
Ensembl chrNW_004936555:6,781,321...6,865,768 		JBrowse link
G D LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969 		JBrowse link
G B LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522 		JBrowse link
G C Loxl2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,503,226...46,583,807
Ensembl chrNW_004955403:46,504,440...46,584,016 		JBrowse link
G R Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,091,547...51,182,843
Ensembl chr15:44,683,880...44,773,067 		JBrowse link
G M Loxl2 lysyl oxidase-like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,846,085...69,933,283
Ensembl chr14:69,846,517...69,933,283 		JBrowse link
G H LOXL2 lysyl oxidase like 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328 		JBrowse link
G M Mir320 microRNA 320 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,680,950...70,681,031
Ensembl chr14:70,680,950...70,681,031 		JBrowse link
G R Mir320a microRNA 320a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G H MIR320A microRNA 320a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,244,966...22,245,037
Ensembl chr 8:22,244,962...22,245,043 		JBrowse link
G N Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G P MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G S Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G D MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G B MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G C Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G R Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G M Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G H MTHFR methylenetetrahydrofolate reductase no_association IAGP DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Conotruncal cardiac defects
ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G N Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004624758:18,908,988...18,914,794
Ensembl chrNW_004624758:18,911,010...18,914,001 		JBrowse link
G G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801 		JBrowse link
G P NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr14:7,811,200...7,815,553
Ensembl chr14:7,811,200...7,815,645 		JBrowse link
G S Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004936555:7,111,678...7,114,944
Ensembl chrNW_004936555:7,111,678...7,114,944 		JBrowse link
G D NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr25:33,781,294...33,787,460
Ensembl chr25:33,781,249...33,785,761 		JBrowse link
G B NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:22,949,843...22,955,391
Ensembl chr 8:19,884,480...19,888,643 		JBrowse link
G C Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chrNW_004955403:46,831,758...46,836,358
Ensembl chrNW_004955403:46,831,696...46,836,333 		JBrowse link
G R Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr15:50,852,965...50,857,060
Ensembl chr15:44,443,101...44,447,247 		JBrowse link
G M Nkx2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr14:69,409,251...69,412,989
Ensembl chr14:69,409,251...69,412,967 		JBrowse link
G H NKX2-6 NK2 homeobox 6 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations		 OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G N Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,874,399...18,876,982
Ensembl chrNW_004624758:18,875,475...18,876,971 		JBrowse link
G G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319 		JBrowse link
G P NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,783,296...7,787,036
Ensembl chr14:7,783,323...7,787,033 		JBrowse link
G S Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:7,087,677...7,091,334
Ensembl chrNW_004936555:7,088,577...7,091,334 		JBrowse link
G D NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,815,343...33,817,465
Ensembl chr25:33,815,095...33,817,474 		JBrowse link
G B NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,926,145...22,930,396
Ensembl chr 8:19,863,275...19,864,942 		JBrowse link
G C Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,807,846...46,809,924
Ensembl chrNW_004955403:46,806,178...46,836,310 		JBrowse link
G R Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:50,883,661...50,886,253
Ensembl chr15:44,473,851...44,476,441 		JBrowse link
G M Nkx3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,428,141...69,432,107
Ensembl chr14:69,428,087...69,432,111 		JBrowse link
G H NKX3-1 NK3 homeobox 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938 		JBrowse link
G N Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,691,790...17,695,027
Ensembl chrNW_004624758:17,691,803...17,694,945 		JBrowse link
G G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,176,500...20,184,637 JBrowse link
G P NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,378,987...6,381,712
Ensembl chr14:6,377,815...6,381,596 		JBrowse link
G S Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,929,262...5,932,334
Ensembl chrNW_004936555:5,928,601...5,932,400 		JBrowse link
G D NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,139,580...35,144,066
Ensembl chr25:35,140,969...35,143,063 		JBrowse link
G B NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,351,840...21,356,915
Ensembl chr 8:18,293,555...18,297,078 		JBrowse link
G C Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,598,813...45,601,940 JBrowse link
G R Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,060,297...52,062,822
Ensembl chr15:45,650,664...45,653,963 		JBrowse link
G M Nudt18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,815,264...70,820,128
Ensembl chr14:70,815,077...70,820,128 		JBrowse link
G H NUDT18 nudix hydrolase 18 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,106,878...22,110,482
Ensembl chr 8:22,105,748...22,109,419 		JBrowse link
G N Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,085,818...18,098,621 JBrowse link
G G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,658,642...20,674,915
Ensembl chr 8:20,659,361...20,674,900 		JBrowse link
G P PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,834,116...6,848,536
Ensembl chr14:6,834,779...6,848,526 		JBrowse link
G S Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,318,813...6,331,556
Ensembl chrNW_004936555:6,318,762...6,331,575 		JBrowse link
G D PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,684,954...34,699,144
Ensembl chr25:34,684,964...34,699,166 		JBrowse link
G B PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,828,923...21,844,483
Ensembl chr 8:18,767,142...18,783,658 		JBrowse link
G C Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,006,255...46,019,865 JBrowse link
G R Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,647,195...51,659,904
Ensembl chr15:45,237,477...45,249,242 		JBrowse link
G M Pdlim2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,401,667...70,415,140
Ensembl chr14:70,401,667...70,415,130 		JBrowse link
G H PDLIM2 PDZ and LIM domain 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,578,741...22,598,026
Ensembl chr 8:22,578,279...22,598,025 		JBrowse link
G N Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,203,239...18,394,891 JBrowse link
G G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,792,718...21,066,746
Ensembl chr 8:20,792,707...21,004,134 		JBrowse link
G P PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,966,861...7,173,255
Ensembl chr14:6,966,862...7,173,347 		JBrowse link
G S Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,433,243...6,648,014
Ensembl chrNW_004936555:6,433,237...6,620,072 		JBrowse link
G D PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,329,160...34,574,086
Ensembl chr25:34,317,421...34,574,066 		JBrowse link
G B PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,963,297...22,250,024
Ensembl chr 8:18,902,734...19,117,025 		JBrowse link
G C Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,126,263...46,317,830
Ensembl chrNW_004955403:46,125,150...46,333,200 		JBrowse link
G R Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,920,946...45,134,188
Ensembl chr15:44,921,886...45,134,191 		JBrowse link
G M Pebp4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,077,856...70,297,367
Ensembl chr14:70,077,869...70,297,367 		JBrowse link
G H PEBP4 phosphatidylethanolamine binding protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,713,251...22,941,077
Ensembl chr 8:22,713,251...23,000,000 		JBrowse link
G N Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,793,805...17,804,637
Ensembl chrNW_004624758:17,792,745...17,804,964 		JBrowse link
G G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,289,215...20,301,495
Ensembl chr 8:20,289,512...20,297,577 		JBrowse link
G P PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,494,395...6,506,747
Ensembl chr14:6,494,402...6,506,546 		JBrowse link
G S Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,029,393...6,040,622
Ensembl chrNW_004936555:6,029,347...6,040,758 		JBrowse link
G D PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,025,823...35,038,513
Ensembl chr25:35,026,692...35,037,163 		JBrowse link
G B PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,464,544...21,477,197
Ensembl chr 8:18,404,176...18,417,035 		JBrowse link
G C Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,698,936...45,710,921
Ensembl chrNW_004955403:45,695,638...45,710,187 		JBrowse link
G R Phyhip phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,943,670...51,954,921
Ensembl chr15:45,533,974...45,545,221 		JBrowse link
G M Phyhip phytanoyl-CoA hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,694,957...70,706,266
Ensembl chr14:70,694,916...70,706,272 		JBrowse link
G H PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,219,703...22,232,099
Ensembl chr 8:22,219,703...22,232,101 		JBrowse link
G N Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,834,268...17,911,886
Ensembl chrNW_004624758:17,834,191...17,902,575 		JBrowse link
G G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,347,998...20,436,016
Ensembl chr 8:20,352,771...20,433,947 		JBrowse link
G P PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,560,402...6,632,524
Ensembl chr14:6,560,565...6,632,523 		JBrowse link
G S Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,078,681...6,133,184
Ensembl chrNW_004936555:6,078,681...6,133,020 		JBrowse link
G D PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,911,120...34,987,287
Ensembl chr25:34,912,358...34,987,339 		JBrowse link
G B PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,520,166...21,608,374
Ensembl chr 8:18,463,173...18,544,186 		JBrowse link
G C Piwil2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,737,674...45,819,478
Ensembl chrNW_004955403:45,737,674...45,819,873 		JBrowse link
G R Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,841,104...51,907,729
Ensembl chr15:45,431,703...45,497,702 		JBrowse link
G M Piwil2 piwi-like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,609,926...70,674,338
Ensembl chr14:70,609,926...70,666,832 		JBrowse link
G H PIWIL2 piwi like RNA-mediated gene silencing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,275,316...22,357,568
Ensembl chr 8:22,275,316...22,357,568 		JBrowse link
G N Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,817,716...17,823,442
Ensembl chrNW_004624758:17,817,690...17,824,427 		JBrowse link
G G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,314,020...20,320,118
Ensembl chr 8:20,314,081...20,319,455 		JBrowse link
G P POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,520,962...6,529,526
Ensembl chr14:6,521,024...6,532,156 		JBrowse link
G S Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,051,528...6,057,165
Ensembl chrNW_004936555:6,051,476...6,057,164 		JBrowse link
G D POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,011,189...35,016,617
Ensembl chr25:35,011,861...35,016,605 		JBrowse link
G B POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,489,492...21,499,948
Ensembl chr 8:18,429,013...18,435,060 		JBrowse link
G C Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,721,266...45,727,214
Ensembl chrNW_004955403:45,721,266...45,727,214 		JBrowse link
G R Polr3d RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,921,283...51,925,952
Ensembl chr15:45,511,589...45,516,353 		JBrowse link
G M Polr3d polymerase (RNA) III (DNA directed) polypeptide D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,676,188...70,680,911
Ensembl chr14:70,676,197...70,680,887 		JBrowse link
G H POLR3D RNA polymerase III subunit D IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,245,133...22,254,601
Ensembl chr 8:22,245,133...22,254,601 		JBrowse link
G N Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,969,777...18,048,476
Ensembl chrNW_004624758:17,969,705...18,049,904 		JBrowse link
G G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,522,829...20,621,445 JBrowse link
G P PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,711,789...6,799,318
Ensembl chr14:6,711,442...6,794,667 		JBrowse link
G S Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,216,202...6,283,012
Ensembl chrNW_004936555:6,236,464...6,283,012 		JBrowse link
G D PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,732,268...34,839,743
Ensembl chr25:34,725,226...34,838,994 		JBrowse link
G B PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,690,598...21,791,335
Ensembl chr 8:18,629,261...18,729,995 		JBrowse link
G C Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,915,985...45,969,350
Ensembl chrNW_004955403:45,916,002...45,968,185 		JBrowse link
G R Ppp3cc protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,699,586...51,771,763
Ensembl chr15:45,290,373...45,361,832 		JBrowse link
G M Ppp3cc protein phosphatase 3, catalytic subunit, gamma isoform ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,455,314...70,526,979
Ensembl chr14:70,455,314...70,526,920 		JBrowse link
G H PPP3CC protein phosphatase 3 catalytic subunit gamma IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,441,078...22,541,125
Ensembl chr 8:22,440,819...22,541,142 		JBrowse link
G N R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,559,670...18,566,342
Ensembl chrNW_004624758:18,545,859...18,566,179 		JBrowse link
G G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,407,791...21,415,927 JBrowse link
G P R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,419,558...7,434,938
Ensembl chr14:7,405,792...7,434,935 		JBrowse link
G S R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,773,104...6,779,608
Ensembl chrNW_004936555:6,773,045...6,782,983 		JBrowse link
G D R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,187,691...34,206,970
Ensembl chr25:34,160,856...34,206,970 		JBrowse link
G B R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,538,046...22,546,405
Ensembl chr 8:19,474,061...19,482,437 		JBrowse link
G C R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,482,255...46,502,194
Ensembl chrNW_004955403:46,491,031...46,502,049 		JBrowse link
G R R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:44,774,552...44,781,864
Ensembl chr15:44,774,554...44,791,800 		JBrowse link
G M R3hcc1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,934,753...69,952,258
Ensembl chr14:69,934,756...69,945,033 		JBrowse link
G H R3HCC1 R3H domain and coiled-coil containing 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,288,092...23,296,279
Ensembl chr 8:23,270,120...23,296,279 		JBrowse link
G N Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,720,917...17,724,741
Ensembl chrNW_004624758:17,720,700...17,724,702 		JBrowse link
G G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,207,609...20,211,509
Ensembl chr 8:20,207,592...20,211,417 		JBrowse link
G P REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,411,510...6,415,612
Ensembl chr14:6,411,513...6,415,590 		JBrowse link
G S Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,958,586...5,962,472
Ensembl chrNW_004936555:5,958,352...5,962,524 		JBrowse link
G D REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,109,210...35,113,152
Ensembl chr25:35,109,236...35,117,048 		JBrowse link
G B REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,382,943...21,386,871
Ensembl chr 8:18,322,302...18,326,212 		JBrowse link
G C Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,627,750...45,631,481
Ensembl chrNW_004955403:45,627,750...45,631,481 		JBrowse link
G R Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:45,620,317...45,623,524
Ensembl chr15:45,619,941...45,623,526 		JBrowse link
G M Reep4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,782,666...70,786,375
Ensembl chr14:70,782,691...70,786,373 		JBrowse link
G H REEP4 receptor accessory protein 4 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,138,020...22,141,907
Ensembl chr 8:22,138,020...22,141,951 		JBrowse link
G N Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,444,684...18,463,988
Ensembl chrNW_004624758:18,444,608...18,464,071 		JBrowse link
G G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,069,255...21,098,000
Ensembl chr 8:21,079,411...21,097,026 		JBrowse link
G P RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,223,209...7,254,813
Ensembl chr14:7,222,981...7,254,780 		JBrowse link
G S Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,664,811...6,684,756
Ensembl chrNW_004936555:6,664,768...6,682,822 		JBrowse link
G D RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,299,363...34,329,052
Ensembl chr25:34,300,780...34,322,217 		JBrowse link
G B RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420 		JBrowse link
G C Rhobtb2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,367,390...46,390,551
Ensembl chrNW_004955403:46,371,054...46,390,551 		JBrowse link
G R Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,278,024...51,298,209
Ensembl chr15:44,870,376...44,888,651 		JBrowse link
G M Rhobtb2 Rho-related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,022,439...70,062,296
Ensembl chr14:70,022,439...70,043,085 		JBrowse link
G H RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G N Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655 		JBrowse link
G G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020 		JBrowse link
G P SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G S Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011 		JBrowse link
G D SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G B SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,402,060...21,409,438
Ensembl chr 8:18,345,940...18,348,764 		JBrowse link
G C Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,649,149...45,651,421
Ensembl chrNW_004955403:45,649,122...45,651,837 		JBrowse link
G R Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G M Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G H SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G N Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,753,465...18,792,025
Ensembl chrNW_004624758:18,753,336...18,792,088 		JBrowse link
G G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,646,854...21,691,812
Ensembl chr 8:21,646,869...21,694,938 		JBrowse link
G P SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:7,665,002...7,709,998
Ensembl chr14:7,665,007...7,706,768 		JBrowse link
G S Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,980,239...7,016,490
Ensembl chrNW_004936555:6,980,194...7,018,134 		JBrowse link
G D SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:33,923,108...33,965,577
Ensembl chr25:33,894,132...33,965,398 		JBrowse link
G B SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,778,309...22,824,871
Ensembl chr 8:19,713,441...19,759,993 		JBrowse link
G C Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:46,697,560...46,739,082
Ensembl chrNW_004955403:46,697,560...46,739,903 		JBrowse link
G R Slc25a37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:50,944,085...50,986,506
Ensembl chr15:44,536,727...44,577,199 		JBrowse link
G M Slc25a37 solute carrier family 25, member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:69,479,297...69,522,993
Ensembl chr14:69,479,297...69,522,561 		JBrowse link
G H SLC25A37 solute carrier family 25 member 37 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,528,956...23,575,463
Ensembl chr 8:23,528,956...23,575,463 		JBrowse link
G N Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:17,911,889...17,954,870
Ensembl chrNW_004624758:17,912,827...17,953,294 		JBrowse link
G G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,446,756...20,502,585 JBrowse link
G P SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,639,485...6,687,929
Ensembl chr14:6,639,206...6,687,924 		JBrowse link
G S Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004939045:1...7,491 JBrowse link
G D SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,854,371...34,901,030
Ensembl chr25:34,846,653...34,869,695 		JBrowse link
G B SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,617,529...21,672,726
Ensembl chr 8:18,555,895...18,621,510 		JBrowse link
G C Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,828,247...45,867,309
Ensembl chrNW_004955403:45,827,942...45,867,309 		JBrowse link
G R Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,786,517...51,833,260
Ensembl chr15:45,376,917...45,423,524 		JBrowse link
G M Slc39a14 solute carrier family 39 (zinc transporter), member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,540,916...70,588,873
Ensembl chr14:70,540,918...70,588,874 		JBrowse link
G H SLC39A14 solute carrier family 39 member 14 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G N Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,058,972...18,083,509
Ensembl chrNW_004624758:18,058,306...18,084,378 		JBrowse link
G G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,627,947...20,655,700
Ensembl chr 8:20,630,437...20,656,154 		JBrowse link
G P SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:6,802,944...6,831,152
Ensembl chr14:6,808,166...6,828,975 		JBrowse link
G S Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004936555:6,292,213...6,316,264
Ensembl chrNW_004936555:6,292,205...6,316,306 		JBrowse link
G D SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr25:34,701,495...34,725,231
Ensembl chr25:34,702,238...34,709,811 		JBrowse link
G B SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,794,805...21,825,675
Ensembl chr 8:18,733,776...18,763,861 		JBrowse link
G C Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004955403:45,973,381...46,003,807
Ensembl chrNW_004955403:45,977,245...46,006,355 		JBrowse link
G R Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,662,639...51,699,161
Ensembl chr15:45,253,379...45,284,758 		JBrowse link
G M Sorbs3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,417,917...70,449,472
Ensembl chr14:70,417,917...70,449,438 		JBrowse link
G H SORBS3 sorbin and SH3 domain containing 3 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,544,973...22,575,788
Ensembl chr 8:22,544,986...22,575,788 		JBrowse link
G N Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G P TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G S Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G D TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G B TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr22:2,521,080...2,541,267 JBrowse link
G C Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G R Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G M Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G H TBX1 T-box transcription factor 1 IAGP ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations
ClinVar Annotator: match by term: Conotruncal anomaly face syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G N Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447 		JBrowse link
G G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880 		JBrowse link
G P TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513 		JBrowse link
G S Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004936490:2,769,264...2,778,342
Ensembl chrNW_004936490:2,769,231...2,805,238 		JBrowse link
G D TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr 9:35,237,323...35,245,066
Ensembl chr 9:35,235,649...35,245,736 		JBrowse link
G B TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G C Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chrNW_004955451:2,458,612...2,466,264
Ensembl chrNW_004955451:2,457,568...2,466,639 		JBrowse link
G R Tbx2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G M Tbx2 T-box 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G H TBX2 T-box transcription factor 2 susceptibility IAGP DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G G TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673 		JBrowse link
G B TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724 		JBrowse link
G H TNFRSF10A TNF receptor superfamily member 10a IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102 		JBrowse link
G N Tnfrsf10b TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chrNW_004624758:18,464,005...18,498,740 JBrowse link
G G TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,101,945...21,150,362
Ensembl chr 8:21,102,267...21,150,267 		JBrowse link
G B TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498 		JBrowse link
G R Tnfrsf10b TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr15:51,249,883...51,278,091
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G M Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G H TNFRSF10B TNF receptor superfamily member 10b IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031 		JBrowse link
G B TNFRSF10C TNF receptor superfamily member 10c ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,352,777...22,368,737
Ensembl chr 8:19,292,020...19,307,719 		JBrowse link
G H TNFRSF10C TNF receptor superfamily member 10c IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,102,921...23,117,445
Ensembl chr 8:23,102,921...23,117,445 		JBrowse link
G B TNFRSF10D TNF receptor superfamily member 10d ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:22,385,592...22,414,142
Ensembl chr 8:19,324,232...19,352,766 		JBrowse link
G H TNFRSF10D TNF receptor superfamily member 10d IAGP ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:23,135,588...23,164,027
Ensembl chr 8:23,135,588...23,164,027 		JBrowse link
G R Tnfrsf22 tumor necrosis factor receptor superfamily, member 22 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 1:198,840,452...198,860,713
Ensembl chr 1:198,840,453...198,856,309 		JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760 		JBrowse link
G G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G P CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670 		JBrowse link
G S Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004936596:2,442,978...2,467,184
Ensembl chrNW_004936596:2,442,991...2,467,184 		JBrowse link
G D CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,216,568...44,231,820 JBrowse link
G B CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G C Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370 		JBrowse link
G R Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G M Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G H CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G R Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:217095 MouseDO NCBI chr 9:44,234,997...44,247,846
Ensembl chr 9:36,739,071...36,751,930 		JBrowse link
G M Cfc1 cryptic, EGF-CFC family member 1 IAGP OMIM:217095 MouseDO NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394 		JBrowse link
G H CFC1 cryptic, EGF-CFC family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11799476 NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575 		JBrowse link
G P CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr15:56,943,183...56,951,929 JBrowse link
G B CFC1B cryptic, EGF-CFC family member 1B ISO OMIM:217095 MouseDO NCBI chr2B:29,354,004...29,362,161 JBrowse link
G H CFC1B cryptic, EGF-CFC family member 1B ISS OMIM:217095 MouseDO NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G N Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284 		JBrowse link
G G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G P DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G S Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004936471:4,320,235...4,330,251
Ensembl chrNW_004936471:4,320,933...4,330,253 		JBrowse link
G D DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		JBrowse link
G B DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G C Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chrNW_004955416:7,807,049...7,816,346
Ensembl chrNW_004955416:7,807,049...7,817,420 		JBrowse link
G R Dll4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G M Dll4 delta like canonical Notch ligand 4 susceptibility IMP RGD PMID:34859965 RGD:155663381 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G H DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G N Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004624764:6,222,301...6,318,423
Ensembl chrNW_004624764:6,221,867...6,318,477 		JBrowse link
G G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821 		JBrowse link
G P ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,326...79,466,152 		JBrowse link
G S Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004936474:7,034,134...7,083,005
Ensembl chrNW_004936474:7,034,134...7,083,005 		JBrowse link
G D ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114 		JBrowse link
G B ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr 1:20,166,019...20,290,803
Ensembl chr 1:21,206,199...21,278,909 		JBrowse link
G C Ece1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489 		JBrowse link
G R Ece1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G M Ece1 endothelin converting enzyme 1 IAGP OMIM:217095 MouseDO NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540 		JBrowse link
G H ECE1 endothelin converting enzyme 1 ISS OMIM:217095 MouseDO NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572 		JBrowse link
G N Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953 		JBrowse link
G G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G P GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G S Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chrNW_004936596:2,467,428...2,469,213
Ensembl chrNW_004936596:2,467,431...2,471,476 		JBrowse link
G D GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr20:44,233,304...44,234,072 JBrowse link
G B GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G R Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle		 CTD
ClinVar		 PMID:17924340 PMID:25741868 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G M Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle		 CTD
ClinVar		 PMID:17924340 PMID:25741868 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G H GDF1 growth differentiation factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Double outlet right ventricle		 CTD
ClinVar		 PMID:17924340 PMID:25741868 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G N Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004624759:7,996,177...8,006,281
Ensembl chrNW_004624759:7,994,242...8,006,311 		JBrowse link
G G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G P ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907 		JBrowse link
G S Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004936480:15,805,259...15,817,854
Ensembl chrNW_004936480:15,805,247...15,817,854 		JBrowse link
G D ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:63,638,009...63,648,492
Ensembl chr 4:63,637,443...63,648,183 		JBrowse link
G B ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674 		JBrowse link
G C Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chrNW_004955446:15,824,956...15,835,000
Ensembl chrNW_004955446:15,824,035...15,835,046 		JBrowse link
G R Isl1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G M Isl1 ISL1 transcription factor, LIM/homeodomain ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225 		JBrowse link
G H ISL1 ISL LIM homeobox 1 IAGP DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G G LOC103247122 cryptic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11799476
G H LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:21919901 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G D LOC609557 cryptic protein ISO OMIM:217095 MouseDO NCBI chr19:20,318,937...20,384,369 JBrowse link
G N Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004624865:780,163...785,776 JBrowse link
G G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr14:91,685,376...91,692,091 JBrowse link
G P MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046 		JBrowse link
G S Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315 		JBrowse link
G D MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr17:11,720,857...11,724,308 JBrowse link
G B MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G C Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chrNW_004955487:9,219,528...9,224,818
Ensembl chrNW_004955487:9,219,528...9,224,818 		JBrowse link
G R Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G M Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G H MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G N Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004624731:4,098,137...4,170,889
Ensembl chrNW_004624731:4,098,091...4,172,555 		JBrowse link
G G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G P SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506 		JBrowse link
G S Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004936602:3,577,543...3,654,179
Ensembl chrNW_004936602:3,577,525...3,654,269 		JBrowse link
G D SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G B SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G C Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G R Setd5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G M Setd5 SET domain containing 5 IMP RGD PMID:34050709 RGD:155794379 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G H SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G N Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004624770:11,190,103...11,275,823
Ensembl chrNW_004624770:11,190,595...11,221,512 		JBrowse link
G G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114 		JBrowse link
G P YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 6:105,505,944...105,600,694
Ensembl chr 6:105,505,479...105,600,687 		JBrowse link
G D YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 7:67,532,790...67,598,285
Ensembl chr 7:67,532,790...67,598,285 		JBrowse link
G B YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:13,513,124...13,605,379
Ensembl chr18:15,848,765...17,245,246 		JBrowse link
G C Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chrNW_004955402:9,199,704...9,255,183
Ensembl chrNW_004955402:9,226,295...9,256,044 		JBrowse link
G R Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:113,200,256...113,299,837 		JBrowse link
G M Yes1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr 5:32,768,502...32,844,410
Ensembl chr 5:32,768,515...32,844,401 		JBrowse link
G H YES1 YES proto-oncogene 1, Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:721,588...812,753
Ensembl chr18:721,588...812,546 		JBrowse link
G N Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
G G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:100,138,867...100,620,355 JBrowse link
G P ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
G S Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G D ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
G B ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
G C Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
G R Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
G M Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		JBrowse link
G H ZFPM2 zinc finger protein, FOG family member 2 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G H ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17568391 PMID:20807224 PMID:21919901 PMID:25741868 PMID:28492532 NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chrNW_004624764:18,615,213...18,624,585
Ensembl chrNW_004624764:18,615,910...18,624,687 		JBrowse link
G G NCDN neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr20:97,307,993...97,316,945
Ensembl chr20:97,307,962...97,316,579 		JBrowse link
G P NCDN neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 6:91,747,550...91,756,812
Ensembl chr 6:91,747,892...91,756,808 		JBrowse link
G S Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chrNW_004936474:18,110,143...18,119,347
Ensembl chrNW_004936474:18,110,113...18,119,341 		JBrowse link
G D NCDN neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr15:6,573,936...6,583,168
Ensembl chr15:6,574,614...6,583,109 		JBrowse link
G B NCDN neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 1:34,825,694...34,834,729
Ensembl chr 1:36,002,890...36,011,889 		JBrowse link
G C Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chrNW_004955452:13,650,016...13,659,382
Ensembl chrNW_004955452:13,649,539...13,659,436 		JBrowse link
G R Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 5:144,322,287...144,332,117
Ensembl chr 5:139,037,819...139,047,568 		JBrowse link
G M Ncdn neurochondrin ISO ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 4:126,637,548...126,647,203
Ensembl chr 4:126,637,543...126,647,231 		JBrowse link
G H NCDN neurochondrin IAGP ClinVar Annotator: match by term: Floating-Harbor syndrome ClinVar PMID:25741868 NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274 		JBrowse link
G N Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624782:13,818,019...13,862,379
Ensembl chrNW_004624782:13,817,999...13,862,046 		JBrowse link
G G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 5:27,386,923...27,428,360
Ensembl chr 5:27,389,572...27,427,953 		JBrowse link
G P SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 3:17,662,374...17,702,862
Ensembl chr 3:17,664,349...17,700,219 		JBrowse link
G S Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936501:13,095,690...13,131,183
Ensembl chrNW_004936501:13,096,840...13,131,183 		JBrowse link
G D SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 6:17,437,097...17,470,724 JBrowse link
G B SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312 		JBrowse link
G C Srcap Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955493:7,554,724...7,602,560
Ensembl chrNW_004955493:7,559,723...7,602,535 		JBrowse link
G R Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:182,118,416...182,176,610 		JBrowse link
G M Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 		JBrowse link
G H SRCAP Snf2 related CREBBP activator protein IAGP
EXP		 ClinVar Annotator: match by term: Floating-Harbor syndrome
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition
ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: SRCAP-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:16199547 PMID:17576681 More... NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chrNW_004624756:23,060,065...23,062,407
Ensembl chrNW_004624756:23,060,751...23,062,343 		JBrowse link
G G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		JBrowse link
G P FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G D FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868
G B FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G R Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G M Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G H FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		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 N Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
G G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G P CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G S Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		JBrowse link
G D CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr20:8,333,911...8,342,429 JBrowse link
G B CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G C Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G R 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 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G M Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome		 CTD
ClinVar		 PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G H CRELD1 cysteine rich with EGF like domains 1 EXP
IAGP		 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 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624775:13,917,215...13,989,093
Ensembl chrNW_004624775:13,916,883...13,989,153 		JBrowse link
G G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G P ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G S Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		JBrowse link
G D ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G B ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		JBrowse link
G C Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190 		JBrowse link
G R Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:58,142,625...58,210,622 		JBrowse link
G M Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G H ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G N Bmp10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chrNW_004624762:4,482,708...4,493,295
Ensembl chrNW_004624762:4,482,674...4,493,329 		JBrowse link
G G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr14:38,253,093...38,260,027
Ensembl chr14:38,253,890...38,259,621 		JBrowse link
G P BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr 3:73,519,904...73,530,448
Ensembl chr 3:73,519,934...73,529,950 		JBrowse link
G S Bmp10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chrNW_004936491:13,180,086...13,186,004
Ensembl chrNW_004936491:13,180,086...13,186,004 		JBrowse link
G D BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr10:67,717,047...67,724,778
Ensembl chr10:67,717,980...67,724,739 		JBrowse link
G B BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr2A:68,901,944...68,912,559
Ensembl chr2A:70,023,655...70,034,420 		JBrowse link
G C Bmp10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chrNW_004955424:16,124,526...16,130,723
Ensembl chrNW_004955424:16,124,464...16,134,012 		JBrowse link
G R Bmp10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 4:121,423,936...121,439,094
Ensembl chr 4:119,872,045...119,878,627 		JBrowse link
G M Bmp10 bone morphogenetic protein 10 IAGP OMIM:187500 MouseDO NCBI chr 6:87,405,976...87,411,494
Ensembl chr 6:87,405,976...87,414,659 		JBrowse link
G H BMP10 bone morphogenetic protein 10 ISS OMIM:187500 MouseDO NCBI chr 2:68,860,909...68,871,397
Ensembl chr 2:68,860,909...68,871,397 		JBrowse link
G N Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004624741:23,658,214...23,743,227
Ensembl chrNW_004624741:23,658,004...23,737,742 		JBrowse link
G G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G P BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		JBrowse link
G S Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		JBrowse link
G D BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G B BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		JBrowse link
G C Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795 		JBrowse link
G R Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G M Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G H BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G N Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chrNW_004624908:1,937,007...1,949,780
Ensembl chrNW_004624908:1,941,393...1,949,760 		JBrowse link
G G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G P CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr 2:58,951,463...58,972,692
Ensembl chr 2:58,951,727...58,974,670 		JBrowse link
G S Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chrNW_004936596:2,442,978...2,467,184
Ensembl chrNW_004936596:2,442,991...2,467,184 		JBrowse link
G D CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr20:44,216,568...44,231,820 JBrowse link
G B CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G C Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370 		JBrowse link
G R Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G M Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G H CERS1 ceramide synthase 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727 		JBrowse link
G R Cfc1 cripto, FRL-1, cryptic family 1 ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 9:44,234,997...44,247,846
Ensembl chr 9:36,739,071...36,751,930 		JBrowse link
G M Cfc1 cryptic, EGF-CFC family member 1 ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 1:34,574,729...34,583,392
Ensembl chr 1:34,574,729...34,583,394 		JBrowse link
G P CFC1B cryptic, EGF-CFC family member 1B ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr15:56,943,183...56,951,929 JBrowse link
G B CFC1B cryptic, EGF-CFC family member 1B ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr2B:29,354,004...29,362,161 JBrowse link
G H CFC1B cryptic, EGF-CFC family member 1B IDA DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G N Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
G G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
G P CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G S Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chrNW_004936560:6,353,901...6,356,749
Ensembl chrNW_004936560:6,354,338...6,356,735 		JBrowse link
G D CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G B CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr 6:137,134,142...137,136,550 JBrowse link
G C Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chrNW_004955436:20,370,950...20,372,677
Ensembl chrNW_004955436:20,370,950...20,372,677 		JBrowse link
G R Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISS OMIM:187500 MouseDO NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G M Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP OMIM:187500 MouseDO NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G H CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISS OMIM:187500 MouseDO NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G N Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
G G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G P CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G S Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		JBrowse link
G D CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr20:8,333,911...8,342,429 JBrowse link
G B CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,878,265...9,889,826 JBrowse link
G C Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G R Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G M Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G H CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G N Dnah5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chrNW_004624751:10,799,102...11,110,180
Ensembl chrNW_004624751:10,799,892...11,050,403 		JBrowse link
G G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr 4:13,401,980...13,718,900
Ensembl chr 4:13,401,092...13,652,755 		JBrowse link
G P DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr16:3,114,267...3,366,189
Ensembl chr16:3,114,273...3,430,341 		JBrowse link
G S Dnah5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chrNW_004936665:2,267,272...2,545,765
Ensembl chrNW_004936665:2,314,175...2,545,579 		JBrowse link
G D DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr34:816,088...1,040,052
Ensembl chr34:805,455...1,038,273 		JBrowse link
G B DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358 		JBrowse link
G C Dnah5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chrNW_004955426:3,105,631...3,406,587
Ensembl chrNW_004955426:3,106,410...3,353,502 		JBrowse link
G R Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 2:80,668,182...80,985,918
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G M Dnah5 dynein, axonemal, heavy chain 5 IAGP OMIM:187500 MouseDO NCBI chr15:28,155,000...28,472,191
Ensembl chr15:28,203,898...28,472,198 		JBrowse link
G H DNAH5 dynein axonemal heavy chain 5 ISS OMIM:187500 MouseDO NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G N Dock1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chrNW_004624737:19,575,012...20,105,406
Ensembl chrNW_004624737:19,574,948...20,105,265 		JBrowse link
G G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr 9:119,519,230...120,064,767 JBrowse link
G P DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr14:136,199,747...136,745,488
Ensembl chr14:136,257,807...136,741,882 		JBrowse link
G S Dock1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chrNW_004936486:14,583,042...15,092,164
Ensembl chrNW_004936486:14,692,532...15,092,307 		JBrowse link
G D DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr28:35,862,267...36,397,666
Ensembl chr28:35,861,523...36,396,883 		JBrowse link
G B DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr10:123,485,345...124,041,337
Ensembl chr10:127,803,236...128,288,897 		JBrowse link
G C Dock1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955477:4,725,780...5,243,812
Ensembl chrNW_004955477:4,725,039...5,243,866 		JBrowse link
G R Dock1 dedicator of cyto-kinesis 1 ISS OMIM:187500 MouseDO NCBI chr 1:189,467,143...189,983,777
Ensembl chr 1:189,467,143...189,983,768 		JBrowse link
G M Dock1 dedicator of cytokinesis 1 IAGP OMIM:187500 MouseDO NCBI chr 7:134,272,416...134,775,376
Ensembl chr 7:134,272,383...134,775,368 		JBrowse link
G H DOCK1 dedicator of cytokinesis 1 ISS OMIM:187500 MouseDO NCBI chr10:126,905,428...127,452,516
Ensembl chr10:126,905,409...127,452,517 		JBrowse link
G N Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G P EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G S Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637 		JBrowse link
G D EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324 		JBrowse link
G B EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G C Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004955573:132,328...150,879
Ensembl chrNW_004955573:132,328...152,595 		JBrowse link
G R Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G M Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G H EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G N Fgf8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629 		JBrowse link
G P FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G S Fgf8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chrNW_004936600:4,004,847...4,010,626
Ensembl chrNW_004936600:4,004,824...4,010,689 		JBrowse link
G D FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G B FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G C Fgf8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
G R Fgf8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G M Fgf8 fibroblast growth factor 8 IAGP OMIM:187500 MouseDO NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G H FGF8 fibroblast growth factor 8 ISS OMIM:187500 MouseDO NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G N Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chrNW_004624783:7,334,421...7,360,795
Ensembl chrNW_004624783:7,334,312...7,361,134 		JBrowse link
G G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		JBrowse link
G P FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618 		JBrowse link
G S Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chrNW_004936479:15,756,370...15,784,365
Ensembl chrNW_004936479:15,756,370...15,784,359 		JBrowse link
G D FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr14:7,792,708...7,819,723
Ensembl chr14:7,793,449...7,819,940 		JBrowse link
G B FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896 		JBrowse link
G C Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chrNW_004955479:9,633,817...9,661,725
Ensembl chrNW_004955479:9,633,598...9,661,777 		JBrowse link
G R Flnc filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G M Flnc filamin C, gamma ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 6:29,433,150...29,461,888
Ensembl chr 6:29,433,255...29,461,882 		JBrowse link
G H FLNC filamin C IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G N Flt4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		JBrowse link
G G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G P FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G S Flt4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chrNW_004936739:240,572...281,925
Ensembl chrNW_004936739:236,510...281,729 		JBrowse link
G D FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G B FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G C Flt4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chrNW_004955408:98,995...137,922
Ensembl chrNW_004955408:107,056...140,056 		JBrowse link
G R Flt4 Fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G M Flt4 FMS-like tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G H FLT4 fms related receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G N Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004624756:23,060,065...23,062,407
Ensembl chrNW_004624756:23,060,751...23,062,343 		JBrowse link
G G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		JBrowse link
G P FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G D FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829
G B FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:1,429,051...1,433,180 JBrowse link
G R Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G M Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G H FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G N Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
G G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		JBrowse link
G P FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 6:2,552,141...2,555,041
Ensembl chr 6:2,552,862...2,554,367 		JBrowse link
G S Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004936641:2,236,224...2,238,501
Ensembl chrNW_004936641:2,236,873...2,238,375 		JBrowse link
G D FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G B FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:67,237,476...67,239,545 JBrowse link
G R Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr19:66,094,718...66,097,420
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G M Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		JBrowse link
G H FOXC2 forkhead box C2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G N Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		JBrowse link
G G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144 		JBrowse link
G P FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G S Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039 		JBrowse link
G D FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G B FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G C Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512 		JBrowse link
G R Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G M Foxh1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		JBrowse link
G H FOXH1 forkhead box H1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G N Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G P GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G S Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G D GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G B GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G C Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G R Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G M Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot		 OMIM
CTD
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G H GATA4 GATA binding protein 4 IAGP
EXP		 ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G N Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chrNW_004624741:28,310,679...28,322,209
Ensembl chrNW_004624741:28,310,201...28,321,095 		JBrowse link
G G GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G P GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G S Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chrNW_004936514:10,061,675...10,070,541
Ensembl chrNW_004936514:10,061,675...10,070,541 		JBrowse link
G D GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr24:46,417,404...46,427,617
Ensembl chr24:46,417,391...46,429,858 		JBrowse link
G B GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 Ensembl chr20:60,148,359...60,158,886 JBrowse link
G C Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979 		JBrowse link
G R Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 3:187,796,140...187,804,327
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
G M Gata5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G H GATA5 GATA binding protein 5 IAGP DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G N Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G P GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,849...107,314,626 		JBrowse link
G S Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chrNW_004936550:1,814,336...1,844,399
Ensembl chrNW_004936550:1,814,336...1,844,399 		JBrowse link
G D GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr 7:65,932,114...65,962,574 JBrowse link
G B GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr18:15,411,764...15,444,402 JBrowse link
G R Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G M Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635 		JBrowse link
G H GATA6 GATA binding protein 6 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G N Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chrNW_004624908:1,935,525...1,937,012
Ensembl chrNW_004624908:1,935,539...1,936,953 		JBrowse link
G G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G P GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G S Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chrNW_004936596:2,467,428...2,469,213
Ensembl chrNW_004936596:2,467,431...2,471,476 		JBrowse link
G D GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr20:44,233,304...44,234,072 JBrowse link
G B GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:28492532 NCBI chr19:18,306,513...18,334,328
Ensembl chr19:19,317,173...19,342,487 		JBrowse link
G R Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:28492532 NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G M Gdf1 growth differentiation factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:28492532 NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 		JBrowse link
G H GDF1 growth differentiation factor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tetralogy of Fallot		 CTD
ClinVar		 PMID:17924340 PMID:28492532 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G N Gja1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
G G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G P GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G S Gja1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G D GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G B GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G C Gja1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G R Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G M Gja1 gap junction protein, alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G H GJA1 gap junction protein alpha 1 IEP RGD PMID:16010294 RGD:1582666 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G N Gja5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chrNW_004624772:16,810,723...16,828,328
Ensembl chrNW_004624772:16,813,011...16,814,084 		JBrowse link
G G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464
G P GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr 4:99,854,129...99,871,288
Ensembl chr 4:99,854,392...99,871,286 		JBrowse link
G S Gja5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chrNW_004936867:269,477...279,549 JBrowse link
G D GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr17:58,289,327...58,305,315
Ensembl chr17:58,289,327...58,305,315 		JBrowse link
G B GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413 		JBrowse link
G C Gja5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464 NCBI chrNW_004955568:635,319...652,692
Ensembl chrNW_004955568:635,042...653,349 		JBrowse link
G R Gja5 gap junction protein, alpha 5 ISO
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G M Gja5 gap junction protein, alpha 5 ISO
IAGP		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G H GJA5 gap junction protein alpha 5 IAGP
ISS		 DNA:duplications
OMIM:187500		 MouseDO
RGD		 PMID:22199024 RGD:7207464 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G N Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004624769:5,035,669...5,038,333
Ensembl chrNW_004624769:5,033,932...5,038,343 		JBrowse link
G G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:119,635,697...119,639,415
Ensembl chr 7:119,634,741...119,638,546 		JBrowse link
G P HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,459,971...16,462,207 		JBrowse link
G S Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004936516:4,692,926...4,695,625
Ensembl chrNW_004936516:4,692,926...4,695,632 		JBrowse link
G D HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr25:24,140,496...24,143,143
Ensembl chr25:24,141,243...24,152,958 		JBrowse link
G B HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:165,755,000...165,758,735 JBrowse link
G C Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chrNW_004955403:33,478,034...33,481,613
Ensembl chrNW_004955403:33,478,924...33,481,608 		JBrowse link
G R Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr16:37,928,145...37,931,488
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G M Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668 		JBrowse link
G H HAND2 heart and neural crest derivatives expressed 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G N Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chrNW_004624753:375,163...394,402
Ensembl chrNW_004624753:375,279...384,379 		JBrowse link
G G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr13:47,965,808...47,977,435
Ensembl chr13:47,964,847...47,977,346 		JBrowse link
G P HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385 		JBrowse link
G S Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chrNW_004936639:3,705,225...3,714,696
Ensembl chrNW_004936639:3,703,447...3,716,820 		JBrowse link
G D HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 1:64,630,656...64,646,546 JBrowse link
G B HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056 		JBrowse link
G C Hey2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chrNW_004955436:7,060,930...7,070,610
Ensembl chrNW_004955436:7,060,930...7,070,030 		JBrowse link
G R Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G M Hey2 hairy/enhancer-of-split related with YRPW motif 2 IAGP OMIM:187500 MouseDO NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797 		JBrowse link
G H HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISS OMIM:187500 MouseDO NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G G HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G P HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409 		JBrowse link
G D HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559 		JBrowse link
G R Hira histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr11:95,528,831...95,637,565
Ensembl chr11:82,024,469...82,133,529 		JBrowse link
G M Hira histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		JBrowse link
G H HIRA histone cell cycle regulator IEP mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G N Invs inversin ISO OMIM:187500 MouseDO NCBI chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353 		JBrowse link
G G INVS inversin ISO OMIM:187500 MouseDO NCBI chr12:39,138,586...39,333,758
Ensembl chr12:39,139,505...39,333,661 		JBrowse link
G P INVS inversin ISO OMIM:187500 MouseDO NCBI chr 1:241,897,685...242,058,293
Ensembl chr 1:241,897,764...242,059,050 		JBrowse link
G S Invs inversin ISO OMIM:187500 MouseDO NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		JBrowse link
G D INVS inversin ISO OMIM:187500 MouseDO NCBI chr11:57,040,005...57,196,465
Ensembl chr11:57,040,070...57,195,281 		JBrowse link
G B INVS inversin ISO OMIM:187500 MouseDO NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		JBrowse link
G C Invs inversin ISO OMIM:187500 MouseDO NCBI chrNW_004955419:25,445,404...25,584,244
Ensembl chrNW_004955419:25,444,582...25,581,201 		JBrowse link
G R Invs inversin ISS OMIM:187500 MouseDO NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G M Invs inversin IAGP OMIM:187500 MouseDO NCBI chr 4:48,279,707...48,431,956
Ensembl chr 4:48,279,760...48,431,954 		JBrowse link
G H INVS inversin ISS OMIM:187500 MouseDO NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G N Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842 		JBrowse link
G G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:1,712,382...1,723,284
Ensembl chr 4:1,718,737...1,723,403 		JBrowse link
G P IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269 		JBrowse link
G S Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004936815:90,707...94,138
Ensembl chrNW_004936815:90,942...94,147 		JBrowse link
G D IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164 		JBrowse link
G B IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 Ensembl chr 5:1,929,977...1,939,622 JBrowse link
G C Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004955504:937,152...940,842
Ensembl chrNW_004955504:937,621...940,787 		JBrowse link
G R Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 1:31,859,101...31,868,089
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G M Irx4 Iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G H IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G N Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488 		JBrowse link
G G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G P JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G S Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G D JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		JBrowse link
G B JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G C Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G R Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... RGD:1582344 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G M Jag1 jagged 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... RGD:1582344 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G H JAG1 jagged canonical Notch ligand 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 More... RGD:1582344 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G N Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G P KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G S Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G D KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G B KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G C Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G R Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G M Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G H KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G B LOC100977781 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr22:2,087,846...2,191,192
Ensembl chr22:17,765,598...17,847,084 		JBrowse link
G N LOC101713307 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chrNW_004624747:9...95,643 JBrowse link
G S LOC101957075 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chrNW_004936619:3,282,170...3,380,151
Ensembl chrNW_004936619:3,282,173...3,380,151 		JBrowse link
G C LOC102009660 protein HIRA ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		JBrowse link
G H LOC126860469 BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot
ClinVar Annotator: match by term: Fallot tetralogy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:105,802,217...105,803,416 JBrowse link
G D LOC609557 cryptic protein ISO DNA:hypermethylation:promoter: RGD PMID:24479926 RGD:155226880 NCBI chr19:20,318,937...20,384,369 JBrowse link
G N Mks1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742 		JBrowse link
G G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G P MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187 		JBrowse link
G S Mks1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		JBrowse link
G D MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr 9:32,865,972...32,878,712
Ensembl chr 9:32,860,995...32,879,338 		JBrowse link
G B MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G C Mks1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G R Mks1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G M Mks1 MKS transition zone complex subunit 1 IAGP OMIM:187500 MouseDO NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G H MKS1 MKS transition zone complex subunit 1 ISS OMIM:187500 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G P MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G D MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G R Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G M mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G H MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G P MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890 		JBrowse link
G D MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,034...7,717
Ensembl chr MT:7,034...7,717 		JBrowse link
G R Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G M mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G H MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G P MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583 		JBrowse link
G D MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G R Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G M mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G H MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G N Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		JBrowse link
G G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952 		JBrowse link
G P MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,387 		JBrowse link
G S Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chrNW_004936495:8,100,977...8,170,244
Ensembl chrNW_004936495:8,100,912...8,171,800 		JBrowse link
G D MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453 		JBrowse link
G B MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		JBrowse link
G C Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chrNW_004955466:5,422,141...5,485,773
Ensembl chrNW_004955466:5,420,702...5,485,773 		JBrowse link
G R Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G M Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr12:76,301,180...76,366,594
Ensembl chr12:76,302,072...76,366,577 		JBrowse link
G H MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G N Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G P MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G S Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G D MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G B MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G C Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chrNW_004955486:2,096,379...2,112,240
Ensembl chrNW_004955486:2,096,379...2,112,240 		JBrowse link
G R Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G M Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G H MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G N Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004624759:17,899,152...18,078,213
Ensembl chrNW_004624759:17,899,152...17,999,295 		JBrowse link
G G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:35,748,112...35,940,075
Ensembl chr 4:35,829,386...35,941,271 		JBrowse link
G P NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821 		JBrowse link
G S Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004936518:4,870,686...5,041,099
Ensembl chrNW_004936518:4,869,546...4,969,450 		JBrowse link
G D NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852 		JBrowse link
G B NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G C Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chrNW_004955426:21,666,958...21,841,515
Ensembl chrNW_004955426:21,666,857...21,841,515 		JBrowse link
G R Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G M Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G H NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO
ISS		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO
IAGP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism
OMIM:187500		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP
ISS
EXP		 DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... RGD:1581133 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G N Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531 		JBrowse link
G G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G P NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138
G S Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G D NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277 		JBrowse link
G B NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G C Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G R Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G M Notch1 notch 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G H NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G N Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chrNW_004624805:8,438,485...8,574,845
Ensembl chrNW_004624805:8,438,498...8,574,508 		JBrowse link
G G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 9:32,474,787...32,632,746
Ensembl chr 9:32,474,309...32,633,101 		JBrowse link
G P NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:56,280,673...56,430,832
Ensembl chr10:56,280,665...56,430,777 		JBrowse link
G S Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chrNW_004936574:1,694,433...1,834,720
Ensembl chrNW_004936574:1,694,336...1,834,720 		JBrowse link
G D NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 2:3,416,062...3,553,929
Ensembl chr 2:3,413,821...3,552,483 		JBrowse link
G B NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648 		JBrowse link
G C Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chrNW_004955462:4,101,997...4,241,012
Ensembl chrNW_004955462:4,101,999...4,241,012 		JBrowse link
G R Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr19:73,256,557...73,411,705
Ensembl chr19:56,359,455...56,513,633 		JBrowse link
G M Nrp1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 8:129,085,553...129,231,957
Ensembl chr 8:129,085,085...129,229,844 		JBrowse link
G H NRP1 neuropilin 1 susceptibility IAGP DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262 		JBrowse link
G N Ntf3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chrNW_004624860:2,416,448...2,479,216
Ensembl chrNW_004624860:2,416,503...2,479,225 		JBrowse link
G G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr11:5,477,208...5,542,404 JBrowse link
G P NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788 		JBrowse link
G S Ntf3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552 		JBrowse link
G D NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G B NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989 		JBrowse link
G C Ntf3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491 		JBrowse link
G R Ntf3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G M Ntf3 neurotrophin 3 IAGP OMIM:187500 MouseDO NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G H NTF3 neurotrophin 3 ISS OMIM:187500 MouseDO NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G N Phc1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chrNW_004624860:4,720,722...4,747,456 JBrowse link
G G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr11:8,733,769...8,759,430
Ensembl chr11:8,733,988...8,758,600 		JBrowse link
G P PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr 5:62,557,774...62,580,640
Ensembl chr 5:62,557,776...62,580,651 		JBrowse link
G S Phc1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chrNW_004936870:275,764...300,460
Ensembl chrNW_004936870:277,252...303,125 		JBrowse link
G D PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr27:36,797,327...36,816,726
Ensembl chr27:36,797,927...36,819,386 		JBrowse link
G B PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr12:8,999,018...9,025,900
Ensembl chr12:9,231,394...9,257,806 		JBrowse link
G C Phc1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chrNW_004955413:6,156,934...6,176,460 JBrowse link
G R Phc1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr 4:157,182,348...157,205,504
Ensembl chr 4:155,510,274...155,533,959 		JBrowse link
G M Phc1 polyhomeotic 1 IAGP OMIM:187500 MouseDO NCBI chr 6:122,294,690...122,317,551
Ensembl chr 6:122,294,690...122,317,520 		JBrowse link
G H PHC1 polyhomeotic homolog 1 ISS OMIM:187500 MouseDO NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467 		JBrowse link
G N Ptpn11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G P PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G S Ptpn11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chrNW_004936668:2,602,261...2,687,903
Ensembl chrNW_004936668:2,628,706...2,682,448 		JBrowse link
G D PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G B PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G C Ptpn11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G R Ptpn11 protein tyrosine phosphatase, non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G M Ptpn11 protein tyrosine phosphatase, non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G H PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility IAGP DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G N Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G P RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G S Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G D RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G B RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G C Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		JBrowse link
G R Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G M Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G H RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G N Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690 		JBrowse link
G G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		JBrowse link
G P ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481 		JBrowse link
G S Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chrNW_004936505:4,329,428...4,711,310
Ensembl chrNW_004936505:4,330,303...4,709,655 		JBrowse link
G D ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		JBrowse link
G B ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308 		JBrowse link
G C Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chrNW_004955407:12,593,911...13,485,723
Ensembl chrNW_004955407:13,107,235...13,487,053 		JBrowse link
G R Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G M Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr16:71,824,406...72,844,379
Ensembl chr16:72,105,194...72,842,983 		JBrowse link
G H ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G N Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G P TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G S Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G D TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G B TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr22:2,521,080...2,541,267 JBrowse link
G C Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G R Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr11:95,913,610...95,923,392
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G M Tbx1 T-box 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G H TBX1 T-box transcription factor 1 IAGP
EXP		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G N Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chrNW_004624740:25,645,526...25,698,235
Ensembl chrNW_004624740:25,645,895...25,697,132 		JBrowse link
G G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		JBrowse link
G P TBX20 T-box transcription factor 20 ISO mRNA:increased expression:heart (human)
DNA:hypomethylation:promoter		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
G S Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chrNW_004936478:10,887,900...10,939,510
Ensembl chrNW_004936478:10,888,045...10,939,564 		JBrowse link
G D TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr14:46,891,706...46,946,899
Ensembl chr14:46,896,228...46,947,507 		JBrowse link
G B TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr 7:35,855,969...35,878,533 JBrowse link
G C Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chrNW_004955460:7,794,313...7,856,906
Ensembl chrNW_004955460:7,794,313...7,856,906 		JBrowse link
G R Tbx20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175 		JBrowse link
G M Tbx20 T-box 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 9:24,632,108...24,685,580
Ensembl chr 9:24,629,434...24,685,599 		JBrowse link
G H TBX20 T-box transcription factor 20 IDA
IEP		 DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:31138201 PMID:18275040 RGD:155882584, RGD:155882585 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G N Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544 		JBrowse link
G G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G P TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G S Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chrNW_004936471:23,643,645...23,670,775
Ensembl chrNW_004936471:23,643,613...23,670,775 		JBrowse link
G D TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442 		JBrowse link
G B TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530 		JBrowse link
G C Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chrNW_004955450:12,197,241...12,223,372
Ensembl chrNW_004955450:12,194,755...12,224,011 		JBrowse link
G R Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 8:76,516,654...76,543,661
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
G M Tpm1 tropomyosin 1, alpha ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr 9:66,929,872...66,956,954
Ensembl chr 9:66,929,872...66,956,688 		JBrowse link
G H TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G N Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chrNW_004624763:21,388,060...21,708,969
Ensembl chrNW_004624763:21,388,244...21,707,953 		JBrowse link
G G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 8:100,138,867...100,620,355 JBrowse link
G P ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287 		JBrowse link
G S Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
G D ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
G B ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 8:101,872,850...102,430,622
Ensembl chr 8:104,023,062...104,576,688 		JBrowse link
G C Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
G R Zfpm2 zinc finger protein, multitype 2 ISO
ISS		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:71,678,880...72,116,205 		JBrowse link
G M Zfpm2 zinc finger protein, multitype 2 ISO
IAGP		 ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:
OMIM:187500		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr15:40,518,438...40,967,988
Ensembl chr15:40,518,431...40,967,988 		JBrowse link
G H ZFPM2 zinc finger protein, FOG family member 2 IAGP
ISS
EXP
IDA		 ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Tetralogy of Fallot
OMIM:187500
CTD Direct Evidence: marker/mechanism
DNA,mRNA:hypermethylation,decreased expression:promoter,heart:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... RGD:1580641, RGD:155882486 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G H ZFPM2-AS1 ZFPM2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Fallot tetralogy
ClinVar Annotator: match by term: Tetralogy of Fallot		 ClinVar PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:25741868 More... NCBI chr 8:105,780,410...106,060,503
Ensembl chr 8:105,546,089...106,060,524 		JBrowse link
Ventricular Septal Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624741:7,706,205...7,717,677
Ensembl chrNW_004624741:7,706,236...7,719,484 		JBrowse link
G G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G P BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195 		JBrowse link
G S Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454 		JBrowse link
G D BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217 		JBrowse link
G B BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		JBrowse link
G C Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G R Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G M Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G H BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G N Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004624741:23,658,214...23,743,227
Ensembl chrNW_004624741:23,658,004...23,737,742 		JBrowse link
G G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G P BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		JBrowse link
G S Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004936530:71,965...143,940
Ensembl chrNW_004936530:71,920...143,940 		JBrowse link
G D BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G B BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:53,509,484...53,606,889
Ensembl chr20:54,788,974...54,885,021 		JBrowse link
G C Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795 		JBrowse link
G R Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G M Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114 		JBrowse link
G H BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G N Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256 		JBrowse link
G G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G P CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		JBrowse link
G S Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		JBrowse link
G D CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr20:8,333,911...8,342,429 JBrowse link
G B CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 3:9,878,265...9,889,826 JBrowse link
G C Creld1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314 		JBrowse link
G R Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G M Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G H CRELD1 cysteine rich with EGF like domains 1 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G N Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318 		JBrowse link
G G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G P GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941 		JBrowse link
G S Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chrNW_004936675:3,408,549...3,420,828 JBrowse link
G D GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr25:26,126,172...26,211,474
Ensembl chr25:26,127,853...26,182,989 		JBrowse link
G B GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr 8:7,442,921...7,526,731 JBrowse link
G C Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chrNW_004955403:52,958,318...53,029,267
Ensembl chrNW_004955403:52,987,644...53,029,267 		JBrowse link
G R Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G M Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G H GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar
OMIM		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G N Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004624751:913,127...916,583
Ensembl chrNW_004624751:913,691...916,842 		JBrowse link
G G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 4:1,712,382...1,723,284
Ensembl chr 4:1,718,737...1,723,403 		JBrowse link
G P IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269 		JBrowse link
G S Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004936815:90,707...94,138
Ensembl chrNW_004936815:90,942...94,147 		JBrowse link
G D IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr34:10,926,042...10,929,142
Ensembl chr34:10,923,097...10,929,164 		JBrowse link
G B IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar Ensembl chr 5:1,929,977...1,939,622 JBrowse link
G C Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chrNW_004955504:937,152...940,842
Ensembl chrNW_004955504:937,621...940,787 		JBrowse link
G R Irx4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 1:31,859,101...31,868,089
Ensembl chr 1:30,030,561...30,039,549 		JBrowse link
G M Irx4 Iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G H IRX4 iroquois homeobox 4 IAGP ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
Ventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chrNW_004624753:14,630,842...14,633,245
Ensembl chrNW_004624753:14,630,827...14,632,536 		JBrowse link
G G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
G P CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr 1:25,155,652...25,158,517
Ensembl chr 1:25,155,664...25,160,279 		JBrowse link
G S Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chrNW_004936560:6,353,901...6,356,749
Ensembl chrNW_004936560:6,354,338...6,356,735 		JBrowse link
G D CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G B CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr 6:137,134,142...137,136,550 JBrowse link
G C Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chrNW_004955436:20,370,950...20,372,677
Ensembl chrNW_004955436:20,370,950...20,372,677 		JBrowse link
G R Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G M Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr10:17,598,452...17,601,422
Ensembl chr10:17,598,966...17,601,422 		JBrowse link
G H CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP ClinVar Annotator: match by term: Ventricular septal defect 2
ClinVar Annotator: match by term: CITED2-related condition		 ClinVar
OMIM		 PMID:16287139 PMID:25741868 PMID:28492532 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G H LOC129997307 ATAC-STARR-seq lymphoblastoid silent region 17609 IAGP ClinVar Annotator: match by term: Ventricular septal defect 2
ClinVar Annotator: match by term: CITED2-related condition		 ClinVar PMID:16287139 PMID:28492532 NCBI chr 6:139,373,357...139,373,456 JBrowse link
Ventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Ventricular septal defect 3 ClinVar
OMIM		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital heart disease 14506
        heart septal defect 2292
          ventricular septal defect 1681
            Aneurysm of Interventricular Septum 0
            Brachydactyly, Intraventricular Septal Defect, and Deafness 0
            Common Ventricle 10
            Floating-Harbor syndrome 20
            Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
            Laurence Prosser Rocker Syndrome 0
            Partial Atrioventricular Canal 0
            Ventricular Septal Defect 1 50
            Ventricular Septal Defect 2 11
            Ventricular Septal Defect 3 10
            atrioventricular septal defect + 600
            double outlet right ventricle + 567
            tetralogy of Fallot + 459
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        Congenital Abnormalities 85100
          Cardiovascular Abnormalities 16483
            congenital heart disease 14506
              heart septal defect 2292
                ventricular septal defect 1681
                  Aneurysm of Interventricular Septum 0
                  Brachydactyly, Intraventricular Septal Defect, and Deafness 0
                  Common Ventricle 10
                  Floating-Harbor syndrome 20
                  Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                  Laurence Prosser Rocker Syndrome 0
                  Partial Atrioventricular Canal 0
                  Ventricular Septal Defect 1 50
                  Ventricular Septal Defect 2 11
                  Ventricular Septal Defect 3 10
                  atrioventricular septal defect + 600
                  double outlet right ventricle + 567
                  tetralogy of Fallot + 459
paths to the root