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
Accession: DOID:9005605
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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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