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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:pulmonary artery disease
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Accession:DOID:60001 term browser browse the term
Definition:An artery disease that is located in the lungs. (DO)
For additional species annotation, visit the Alliance of Genome Resources.

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pulmonary artery disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin severity ISO associated with ischemia RGD PMID:12654637 RGD:329333024 NCBI chrNW_004624760:13,943,680...14,004,660
Ensembl chrNW_004624760:13,943,888...13,969,905 		JBrowse link
pulmonary embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt betaine--homocysteine S-methyltransferase susceptibility ISO DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) RGD PMID:37203835 RGD:329853743 NCBI chrNW_004624869:3,618,895...3,639,621
Ensembl chrNW_004624869:3,617,948...3,642,860 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chrNW_004624746:28,677,956...28,688,638
Ensembl chrNW_004624746:28,677,709...28,689,122 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452 		JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:intron 1 (rs7025486) (human)		 CTD
RGD		 PMID:20622881 RGD:401901599 NCBI chrNW_004624760:13,472,500...13,658,070
Ensembl chrNW_004624760:13,472,672...13,657,930 		JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029 		JBrowse link
G F13a1 coagulation factor XIII A chain ISO RGD PMID:12958612 RGD:1581021 NCBI chrNW_004624756:19,103,064...19,259,632
Ensembl chrNW_004624756:19,103,327...19,259,964 		JBrowse link
G F2 coagulation factor II, thrombin no_association
susceptibility		 ISO DNA:SNP:3' utr:20221C>T (human)
DNA:SNP:3' utr:19911A>G (human)		 RGD PMID:25316662 RGD:10449427 NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958 		JBrowse link
G F5 coagulation factor V ISO RGD PMID:14996674 RGD:4892657 NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012 		JBrowse link
G Fga fibrinogen alpha chain ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:blood microparticle		 CTD
RGD		 PMID:10910940 PMID:22014850 RGD:5688769 NCBI chrNW_004624858:5,848,817...5,856,448 JBrowse link
G Fgb fibrinogen beta chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chrNW_004624858:5,866,104...5,874,173
Ensembl chrNW_004624858:5,864,784...5,874,869 		JBrowse link
G Fgg fibrinogen gamma chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chrNW_004624858:5,828,334...5,836,382
Ensembl chrNW_004624858:5,827,316...5,838,170 		JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human) RGD PMID:25161014 RGD:329901770 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480 		JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chrNW_004624769:17,066,055...17,088,587
Ensembl chrNW_004624769:17,067,342...17,087,408 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15130911 PMID:19028587 RGD:1582496 NCBI chrNW_004624749:337,441...444,730
Ensembl chrNW_004624749:341,289...443,640 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16304337 RGD:1582630 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16304337 RGD:1582630 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Nppb natriuretic peptide B disease_progression ISO protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chrNW_004624818:1,139,776...1,141,010 JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1899825 PMID:2123154 PMID:3105914 PMID:3122266 PMID:8082347 More... NCBI chrNW_004624780:1,014,429...1,063,636
Ensembl chrNW_004624780:1,028,085...1,063,649 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1098216 PMID:4430106 PMID:4884574 PMID:9038699 PMID:9266785 More... NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chrNW_004624732:13,915,361...13,922,182
Ensembl chrNW_004624732:13,915,402...13,923,593 		JBrowse link
G Serpinf2 serpin family F member 2 severity ISO RGD PMID:12911586 RGD:1580302 NCBI chrNW_004624786:4,441,912...4,450,487
Ensembl chrNW_004624786:4,443,249...4,449,743 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chrNW_004624828:6,291,010...6,312,438
Ensembl chrNW_004624828:6,291,167...6,309,482 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO RGD PMID:12639842 RGD:1601456 NCBI chrNW_004624765:20,145,769...20,314,992
Ensembl chrNW_004624765:20,146,138...20,315,797 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chrNW_004624741:22,880,481...22,883,962 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chrNW_004624857:3,606,573...3,625,991
Ensembl chrNW_004624857:3,606,431...3,627,063 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chrNW_004624738:13,116,317...13,180,935
Ensembl chrNW_004624738:13,115,982...13,181,352 		JBrowse link
Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101697345 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chrNW_004624754:23,661,031...23,672,549
Ensembl chrNW_004624754:23,658,339...23,672,663 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia OMIM
ClinVar		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... NCBI chrNW_004624823:8,645,340...8,708,039
Ensembl chrNW_004624823:8,644,826...8,706,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    disease of anatomical entity 13931
      respiratory system disease 4529
        lower respiratory tract disease 2024
          lung disease 1985
            pulmonary artery disease 33
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary embolism + 32
paths to the root