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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.


show annotations for term's descendants           Sort by:
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 chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831 		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 chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:heart right ventricle (rat) RGD PMID:16814320 RGD:11528528 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219 		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 chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336 		JBrowse link
G EDN1 endothelin 1 severity ISO protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974 		JBrowse link
G F13A1 coagulation factor XIII A chain ISO RGD PMID:12958612 RGD:1581021 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961 		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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157 		JBrowse link
G F5 coagulation factor V ISO RGD PMID:14996674 RGD:4892657 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:blood microparticle
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10910940 PMID:22014850 RGD:5688769 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FGB fibrinogen beta chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 4:146,929,561...146,937,665
Ensembl chr 4:158,747,659...158,755,766 		JBrowse link
G FGG fibrinogen gamma chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 4:146,970,671...146,979,348
Ensembl chr 4:158,788,966...158,797,237 		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 chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		JBrowse link
G KLKB1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300 		JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:15130911 PMID:19028587 RGD:1582496 NCBI chr2A:89,977,226...90,109,970
Ensembl chr2A:113,056,852...113,162,052 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16304337 RGD:1582630 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16304337 RGD:1582630 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NPPB natriuretic peptide B disease_progression ISO protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		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 chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779 		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 chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr2B:32,846,899...32,859,060
Ensembl chr2B:128,083,794...128,094,625 		JBrowse link
G SERPINF2 serpin family F member 2 severity ISO RGD PMID:12911586 RGD:1580302 NCBI chr17:1,725,469...1,738,887
Ensembl chr17:1,618,549...1,631,570 		JBrowse link
G TBXA2R thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chr19:2,621,606...2,632,800
Ensembl chr19:3,570,290...3,581,924 		JBrowse link
G TBXAS1 thromboxane A synthase 1 ISO RGD PMID:12639842 RGD:1601456 NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523 		JBrowse link
G THBD thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732 		JBrowse link
G XDH xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		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 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387 		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 chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      respiratory system disease 4887
        lower respiratory tract disease 2199
          lung disease 2159
            pulmonary artery disease 35
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary embolism + 34
paths to the root