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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:Arteriovenous Fistula
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Accession:DOID:9005605 term browser browse the term
Definition:An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE.
Synonyms:exact_synonym: Arteriovenous Aneurysm;   Arteriovenous Fistulas
 primary_id: MESH:D001164
 xref: NCI:C36192

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show annotations for term's descendants           Sort by:
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr20:4,742,326...4,746,615 JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729 		JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154 		JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr10:105,312,348...105,320,869 JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr21:119,174,829...119,196,840 JBrowse link
G RBP4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chr17:28,377,959...28,394,508 JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      cardiovascular system disease 4399
        vascular disease 3000
          Vascular Fistula 15
            Arteriovenous Fistula 15
              Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
              Carotid-Cavernous Sinus Fistula 0
              Pulmonary Arteriovenous Fistulas 0
              Wyburn Mason's Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15416
    Developmental Disease 13504
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        Congenital Abnormalities 7666
          Cardiovascular Abnormalities 1575
            Vascular Malformations 122
              arteriovenous malformation 55
                Arteriovenous Fistula 15
                  Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                  Carotid-Cavernous Sinus Fistula 0
                  Pulmonary Arteriovenous Fistulas 0
                  Wyburn Mason's Syndrome 0
paths to the root