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
Accession: DOID:0050830
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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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16321391
RGD:5686716
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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B2m
beta-2 microglobulin
severity
ISO
RGD
PMID:21314441
RGD:6482704
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27082954
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp8a
bone morphogenetic protein 8a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27082954
NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785
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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 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Dab2ip
DAB2 interacting protein
ISO
DNA:SNP:CDS:intron 1 (rs7025486) (human)
RGD
PMID:20622881
RGD:401901599
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Gch1
GTP cyclohydrolase 1
treatment
ISO
associated with Experimental Diabetes Mellitus
RGD
PMID:31623833
RGD:329961326
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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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 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Npy
neuropeptide Y
ISO
RGD
PMID:21468772
RGD:10448273
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Npy1r
neuropeptide Y receptor Y1
ISO
RGD
PMID:21468772
RGD:10448273
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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Npy2r
neuropeptide Y receptor Y2
ISO
RGD
PMID:21468772
RGD:10448273
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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Npy5r
neuropeptide Y receptor Y5
ISO
RGD
PMID:21468772
RGD:10448273
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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P2ry12
purinergic receptor P2Y12
ISO
RGD
PMID:14662702
RGD:1580188
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Serpine1
serpin family E member 1
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD
PMID:9201602
RGD:8547710
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade 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 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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