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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_004936487:9,749,755...9,802,787
Ensembl chrNW_004936487:9,764,944...9,802,841 		JBrowse link
pulmonary embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chrNW_004936473:28,508,726...28,535,640
Ensembl chrNW_004936473:28,510,523...28,535,627 		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_004936487:10,056,809...10,243,021
Ensembl chrNW_004936487:10,145,278...10,243,174 		JBrowse link
G Edn1 endothelin 1 severity ISO protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 NCBI chrNW_004936543:742,722...745,332
Ensembl chrNW_004936543:743,537...745,343 		JBrowse link
G F13a1 coagulation factor XIII A chain ISO RGD PMID:12958612 RGD:1581021 NCBI chrNW_004936534:6,199,066...6,360,374
Ensembl chrNW_004936534:6,199,066...6,361,476 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility
no_association		 ISO DNA:SNP:3' utr:19911A>G (human)
DNA:SNP:3' utr:20221C>T (human)		 RGD PMID:25316662 RGD:10449427 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F5 coagulation factor V ISO RGD PMID:14996674 RGD:4892657 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		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_004936576:1,322,406...1,329,743 JBrowse link
G Fgb fibrinogen beta chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chrNW_004936576:1,306,076...1,313,485
Ensembl chrNW_004936576:1,306,109...1,313,386 		JBrowse link
G Fgg fibrinogen gamma chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143 		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_004936475:6,321,725...6,689,410
Ensembl chrNW_004936475:6,321,711...6,689,588 		JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chrNW_004936554:3,227,395...3,256,710
Ensembl chrNW_004936554:3,228,735...3,256,710 		JBrowse link
G LOC101972215 betaine--homocysteine S-methyltransferase 1 susceptibility ISO DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) RGD PMID:37203835 RGD:329853743 NCBI chrNW_004936549:6,938,100...6,956,380
Ensembl chrNW_004936549:6,938,092...6,957,363 		JBrowse link
G LOC101976500 haptoglobin ISO protein:decreased expression:blood microparticle
mRNA, protein:increased expression:lung, liver, serum		 RGD PMID:17203959 PMID:19566548 PMID:19943874 PMID:22014850 RGD:1626365 RGD:5147419 RGD:5147425 RGD:5688769 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:15130911 PMID:19028587 RGD:1582496 NCBI chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:16304337 RGD:1582630 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16304337 RGD:1582630 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Nppb natriuretic peptide B disease_progression ISO protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665 		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_004936785:476,200...503,371
Ensembl chrNW_004936785:476,078...503,321 		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_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Serpinf2 serpin family F member 2 severity ISO RGD PMID:12911586 RGD:1580302 NCBI chrNW_004936538:7,870,898...7,877,279
Ensembl chrNW_004936538:7,870,898...7,877,219 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chrNW_004936588:2,040,712...2,044,635
Ensembl chrNW_004936588:2,040,630...2,045,110 		JBrowse link
G Tbxas1 thromboxane A synthase 1 ISO RGD PMID:12639842 RGD:1601456 NCBI chrNW_004936592:4,038,163...4,192,772
Ensembl chrNW_004936592:4,038,074...4,192,808 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chrNW_004936748:785,491...802,791
Ensembl chrNW_004936748:785,455...803,048 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		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 LOC101963197 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_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145 		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_004936586:828,661...887,988
Ensembl chrNW_004936586:828,650...888,047 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      respiratory system disease 4639
        lower respiratory tract disease 2083
          lung disease 2044
            pulmonary artery disease 35
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary embolism + 34
paths to the root