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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:peripheral artery disease
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Accession:DOID:0050830 term browser browse the term
Definition:An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)
Synonyms:exact_synonym: peripheral arterial disease;   peripheral arterial diseases;   peripheral artery diseases
 primary_id: MESH:D058729
 xref: EFO:0004265


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peripheral artery disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:16321391 RGD:5686716 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169 		JBrowse link
G B2m beta-2 microglobulin severity ISO RGD PMID:21314441 RGD:6482704 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27082954 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27082954 NCBI chr 5:140,874,942...140,902,881
Ensembl chr 5:140,874,503...140,902,881 		JBrowse link
G Ccn1 cellular communication network factor 1 severity ISO associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human) RGD PMID:33222686 RGD:329845552 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:237,222,432...237,225,883 		JBrowse link
G Dab2ip DAB2 interacting protein ISO DNA:SNP:CDS:intron 1 (rs7025486) (human) RGD PMID:20622881 RGD:401901599 NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:39,312,745...39,483,730 		JBrowse link
G Gch1 GTP cyclohydrolase 1 treatment ISO associated with Experimental Diabetes Mellitus RGD PMID:31623833 RGD:329961326 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) RGD PMID:16274479 RGD:6893659 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Npy neuropeptide Y ISO RGD PMID:21468772 RGD:10448273 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310 		JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:27,804,416...27,814,070
Ensembl chr16:27,804,416...27,813,387 		JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:21468772 RGD:10448273 NCBI chr 2:170,200,027...170,210,286
Ensembl chr 2:170,200,027...170,210,448 		JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:27,822,055...27,830,012
Ensembl chr16:27,816,065...27,830,290 		JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:14662702 RGD:1580188 NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:145,629,967...145,633,410 		JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
Peripheral Arterial Occlusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina3n serpin family A member 3N ISO ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 ClinVar PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868 NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:129,088,398...129,097,415 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      cardiovascular system disease 4275
        vascular disease 3427
          artery disease 2558
            peripheral artery disease 15
              Peripheral Arterial Occlusive Disease 1 1
              Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      cardiovascular system disease 4275
        vascular disease 3427
          artery disease 2558
            arteriosclerosis 825
              arteriosclerotic cardiovascular disease 236
                atherosclerosis 236
                  peripheral artery disease 15
                    Peripheral Arterial Occlusive Disease 1 1
                    Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 0
paths to the root