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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 chrNW_004936740:1,295,299...1,298,441
Ensembl chrNW_004936740:1,295,319...1,296,812
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chrNW_004936615:4,472,261...4,524,537
Ensembl chrNW_004936615:4,472,247...4,524,556
JBrowse link
G Arrb1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004936498:4,089,621...4,172,749
Ensembl chrNW_004936498:4,094,893...4,172,755
JBrowse link
G Arrb2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004936677:3,173,054...3,181,475
Ensembl chrNW_004936677:3,172,925...3,181,520
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 chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562
JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
JBrowse link
G Rbp4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chrNW_004936602:1,488,993...1,496,108
Ensembl chrNW_004936602:1,489,545...1,495,478
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 chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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 chrNW_004936803:1,393,918...1,423,086
Ensembl chrNW_004936803:1,393,954...1,423,068
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 chrNW_004936621:2,088,606...2,128,579
Ensembl chrNW_004936621:2,088,802...2,128,657
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      cardiovascular system disease 4264
        vascular disease 2910
          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 14637
    Developmental Disease 12844
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12086
        Congenital Abnormalities 7345
          Cardiovascular Abnormalities 1533
            Vascular Malformations 122
              arteriovenous malformation 56
                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