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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:VACTERL association
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Accession:DOID:14679 term browser browse the term
Definition:A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)
Synonyms:exact_synonym: VACTEL association;   VACTERL Syndrome;   VACTERL/VATER association;   VATER Association;   Vertebral Anal Tracheoesophageal Esophageal Radial anomalies;   vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia
 related_synonym: VATER syndrome
 primary_id: MESH:C536495;   MESH:C536534
 alt_id: OMIM:192350
 xref: GARD:5443;   NCI:C99105
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:75,345,153...75,350,544
Ensembl chr 6:75,345,259...75,349,943 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G FN1 fibronectin 1 ISO protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr 6:2,579,348...2,598,122
Ensembl chr 6:2,592,993...2,597,659 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G HOXD13 homeobox D13 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:19006232 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO DNA:mutation:exon:p.C470R(mouse)
CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950		 RGD
CTD
MouseDO		 PMID:18519639 RGD:11556208 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:12632369 RGD:12801426 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO OMIM:192350 | OMIM:276950 MouseDO NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: VACTERL association ClinVar PMID:25741868 NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:11,384,912...11,409,057 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly ClinVar PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:25741868 NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704 		JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus OMIM
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9945
      VACTERL association 20
        X-linked VACTERL association 6
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12325
        Congenital Abnormalities 7329
          Digestive System Abnormalities 487
            Anorectal Malformations 116
              imperforate anus 111
                VACTERL association 20
                  X-linked VACTERL association 6
paths to the root