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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,127,119...135,138,302
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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...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: Visceral heterotaxia ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO 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
ClinVar		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:136,123,662...136,134,295
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 OMIM
ClinVar		 PMID:20493459 PMID:25326635 PMID:25741868 PMID:27452334 PMID:28386937 More... NCBI chr 1:2,375,026...2,424,759
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 Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 OMIM
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
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 OMIM
ClinVar		 PMID:22961344 PMID:23031282 PMID:23175127 PMID:24638895 PMID:25741868 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:24033266 PMID:25741868 PMID:28991257 PMID:30232381 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 OMIM
ClinVar		 PMID:23665959 PMID:30157302 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		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: Dextro-looped transposition of the great arteries 3 ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 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: Dextro-looped transposition of the great arteries 3 OMIM
ClinVar		 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      congenital heart disease 1191
        Congenital Heart Defects, Multiple Types 20
          CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
          Congenital Heart Defects, Multiple Types, 1, X-Linked 12
          Congenital Heart Defects, Multiple Types, 2 1
          Congenital Heart Defects, Multiple Types, 3 1
          Congenital Heart Defects, Multiple Types, 4 1
          Congenital Heart Defects, Multiple Types, 5 1
          Congenital Heart Defects, Multiple Types, 7 1
          multiple types of congenital heart defects 6 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Cardiovascular Abnormalities 1253
            congenital heart disease 1191
              Congenital Heart Defects, Multiple Types 20
                CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY 1
                Congenital Heart Defects, Multiple Types, 1, X-Linked 12
                Congenital Heart Defects, Multiple Types, 2 1
                Congenital Heart Defects, Multiple Types, 3 1
                Congenital Heart Defects, Multiple Types, 4 1
                Congenital Heart Defects, Multiple Types, 5 1
                Congenital Heart Defects, Multiple Types, 7 1
                multiple types of congenital heart defects 6 2
paths to the root