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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:Vascular Fistula
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Accession:DOID:9004252 term browser browse the term
Definition:An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein.
Synonyms:exact_synonym: Vascular Fistulas
 primary_id: MESH:D016157;   RDO:0004909
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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 chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP
protein:increased activity:heart left ventricle (rat) RGD PMID:22768235, PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:91,827,310...91,828,875 JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
protein:increased expression:ileal vein RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343, PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      cardiovascular system disease 4399
        vascular disease 3323
          Vascular Fistula 15
            Arterio-Arterial Fistula + 0
            Arteriovenous Fistula + 15
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        Congenital Abnormalities 5187
          Cardiovascular Abnormalities 1128
            Vascular Malformations 73
              Vascular Fistula 15
                Arterio-Arterial Fistula + 0
                Arteriovenous Fistula + 15
paths to the root