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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:Vein of Galen Aneurysm
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Accession:DOID:9003879 term browser browse the term
Synonyms:exact_synonym: Ectasia or varix of the vein of Galen;   Galen vein aneurysm;   Galenic arteriovenous malformation;   VGAM;   Vein of Galen aneurysm malformation
 primary_id: MESH:C536535
 xref: GARD:5467;   MONDO:0015196;   ORDO:1053


show annotations for term's descendants           Sort by:
Vein of Galen Aneurysm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:36,430,325...36,498,526 JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 IAGP ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        Nervous System Malformations 3265
          Central Nervous System Vascular Malformations 62
            arteriovenous malformations of the brain 35
              Vein of Galen Malformations 7
                Vein of Galen Aneurysm 7
Path 2
Term Annotations click to browse term
  disease 112207
    Developmental Disease 42111
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 35410
        Congenital Abnormalities 16239
          Cardiovascular Abnormalities 2249
            Vascular Malformations 147
              Central Nervous System Vascular Malformations 62
                arteriovenous malformations of the brain 35
                  Vein of Galen Malformations 7
                    Vein of Galen Aneurysm 7
paths to the root