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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:Congenital Heart Defects, Multiple Types
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Accession:DOID:9008565 term browser browse the term
Synonyms:xref: EFO:0600032


show annotations for term's descendants           Sort by:
Congenital Heart Defects, Multiple Types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pbx1 PBX homeobox 1 ISO RGD PMID:31625560 RGD:155630609 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594 		JBrowse link
G Pbx3 PBX homeobox 3 ISO DNA:missense mutation:CDS:pAla136Val (human) RGD PMID:22426282 RGD:155630639 NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25) RGD PMID:20493459 RGD:155663487 NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G C5h1orf127 similar to human chromosome 1 open reading frame 127 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:25741868 PMID:34768622 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia		 OMIM
CTD
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
Congenital Heart Defects, Multiple Types, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 | ClinVar Annotator: match by term: TAB2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20493459 PMID:25326635 PMID:25741868 PMID:27452334 PMID:28386937 More... NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
Congenital Heart Defects, Multiple Types, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 ClinVar PMID:21876083 PMID:24713400 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
Congenital Heart Defects, Multiple Types, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 ClinVar NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 ClinVar NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4		 OMIM
CTD
ClinVar		 PMID:10215630 PMID:24702954 PMID:25741868 PMID:27363585 PMID:28492532 More... NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		JBrowse link
G Xirp2 xin actin-binding repeat containing 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 ClinVar PMID:25741868 NCBI chr 3:52,126,213...52,213,094
Ensembl chr 3:51,870,092...52,213,091 		JBrowse link
Congenital Heart Defects, Multiple Types, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 | ClinVar Annotator: match by term: GATA5-related condition OMIM
ClinVar		 PMID:22641149 PMID:22961344 PMID:23031282 PMID:23040494 PMID:23175127 More... NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 8, with or without heterotaxy OMIM
ClinVar		 PMID:23665959 PMID:25741868 PMID:28492532 PMID:30157302 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
Congenital Heart Defects, Multiple Types, 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 OMIM
ClinVar		 PMID:2194395 PMID:8042678 PMID:24254849 PMID:25741868 PMID:28492532 More... NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244 		JBrowse link
multiple types of congenital heart defects 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      congenital heart disease 1349
        Congenital Heart Defects, Multiple Types 28
          CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
          Congenital Heart Defects, Multiple Types, 1, X-Linked 13
          Congenital Heart Defects, Multiple Types, 2 1
          Congenital Heart Defects, Multiple Types, 3 1
          Congenital Heart Defects, Multiple Types, 4 4
          Congenital Heart Defects, Multiple Types, 5 1
          Congenital Heart Defects, Multiple Types, 7 1
          Congenital Heart Defects, Multiple Types, 9 1
          multiple types of congenital heart defects 6 3
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Cardiovascular Abnormalities 1549
            congenital heart disease 1349
              Congenital Heart Defects, Multiple Types 28
                CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
                Congenital Heart Defects, Multiple Types, 1, X-Linked 13
                Congenital Heart Defects, Multiple Types, 2 1
                Congenital Heart Defects, Multiple Types, 3 1
                Congenital Heart Defects, Multiple Types, 4 4
                Congenital Heart Defects, Multiple Types, 5 1
                Congenital Heart Defects, Multiple Types, 7 1
                Congenital Heart Defects, Multiple Types, 9 1
                multiple types of congenital heart defects 6 3
paths to the root