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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 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		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 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:heart right ventricle (rat) RGD PMID:16814320 RGD:11528528 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 treatment IEP RGD PMID:23578461 RGD:9491777 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 treatment IEP RGD PMID:23578461 RGD:9491777 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:intron 1 (rs7025486) (human)		 CTD
RGD		 PMID:20622881 PMID:20622881 RGD:401901599 NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Edn1 endothelin 1 severity IEP protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12670338 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO RGD PMID:12958612 RGD:1581021 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		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 PMID:25316662 RGD:10449427, RGD:10449427 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F5 coagulation factor V ISO RGD PMID:14996674 RGD:4892657 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fga fibrinogen alpha chain IEP
ISO		 protein:increased expression:blood microparticle
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10910940 PMID:22014850 RGD:5688769 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fgb fibrinogen beta chain IEP protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979 		JBrowse link
G Fgg fibrinogen gamma chain IEP protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		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 chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Hp haptoglobin IEP
ISO		 mRNA, protein:increased expression:lung, liver, serum
protein:decreased expression:blood microparticle		 RGD PMID:17203959 PMID:19943874 PMID:19566548 PMID:22014850 RGD:1626365, RGD:5147419, RGD:5147425, RGD:5688769 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Klkb1 kallikrein B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:19028587 PMID:15130911 RGD:1582496 NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IDA RGD PMID:16304337 RGD:1582630 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 IDA RGD PMID:16304337 RGD:1582630 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppb natriuretic peptide B disease_progression ISO protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		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 chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		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 chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Pros1 protein S ISO RGD PMID:12907438 RGD:1578677 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Serpinf2 serpin family F member 2 severity ISO RGD PMID:12911586 RGD:1580302 NCBI chr10:60,272,400...60,280,506
Ensembl chr10:60,272,400...60,281,243 		JBrowse link
G Tbxa2r thromboxane A2 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
G Tbxas1 thromboxane A synthase 1 IDA RGD PMID:12639842 RGD:1601456 NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        lower respiratory tract disease 2296
          lung disease 2259
            pulmonary artery disease 37
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary embolism + 36
paths to the root