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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 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		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 IAGP DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) RGD PMID:37203835 RGD:329853743 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288 		JBrowse link
G CAT catalase EXP CTD Direct Evidence: therapeutic CTD PMID:2510358 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:heart right ventricle (rat) RGD PMID:16814320 RGD:11528528 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:right ventricle (rat) RGD PMID:19602618 RGD:2314488 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 treatment ISO RGD PMID:23578461 RGD:9491777 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		JBrowse link
G DAB2IP DAB2 interacting protein EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:CDS:intron 1 (rs7025486) (human)		 CTD
RGD		 PMID:20622881 PMID:20622881 RGD:401901599 NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G EDN1 endothelin 1 severity ISO protein:increased secretion:plasma (rat) RGD PMID:20559433 RGD:4144858 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:12670338 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G F13A1 coagulation factor XIII A chain IDA RGD PMID:12958612 RGD:1581021 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility
no_association		 IAGP DNA:SNP:3' utr:19911A>G (human)
DNA:SNP:3' utr:20221C>T (human)		 RGD PMID:25316662 PMID:25316662 RGD:10449427, RGD:10449427 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP RGD PMID:14996674 RGD:4892657 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FGA fibrinogen alpha chain ISO
EXP		 protein:increased expression:blood microparticle
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10910940 PMID:22014850 RGD:5688769 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FGB fibrinogen beta chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain ISO protein:increased expression:blood microparticle RGD PMID:22014850 RGD:5688769 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human) RGD PMID:25161014 RGD:329901770 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G HP haptoglobin ISO
IEP		 mRNA, protein:increased expression:lung, liver, serum
protein:decreased expression:blood microparticle		 RGD PMID:17203959 PMID:22014850 PMID:19566548 PMID:19943874 RGD:1626365, RGD:5688769, RGD:5147425, RGD:5147419 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G KLKB1 kallikrein B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25339356 NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471 		JBrowse link
G MERTK MER proto-oncogene, tyrosine kinase ISO
EXP		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:19028587 PMID:15130911 RGD:1582496 NCBI chr 2:111,898,607...112,029,561
Ensembl chr 2:111,898,607...112,029,561 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:16304337 RGD:1582630 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16304337 RGD:1582630 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19123085 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA, protein:increased expression:lung RGD PMID:17219957 RGD:2292151 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NPPB natriuretic peptide B disease_progression IEP protein:increased expression:plasma RGD PMID:23562569 RGD:7247621 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G PLAT plasminogen activator, tissue type EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1899825 PMID:2123154 PMID:3105914 PMID:3122266 PMID:8082347 More... NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1098216 PMID:4430106 PMID:4884574 PMID:9038699 PMID:9266785 More... NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IEP RGD PMID:10936861 RGD:11100014 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G PROS1 protein S TAS RGD PMID:12907438 RGD:1578677 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G SERPINF2 serpin family F member 2 severity ISO RGD PMID:12911586 RGD:1580302 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265 		JBrowse link
G TBXA2R thromboxane A2 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7740511 NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875 		JBrowse link
G TBXAS1 thromboxane A synthase 1 ISO RGD PMID:12639842 RGD:1601456 NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325 		JBrowse link
G THBD thrombomodulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:7811989 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO protein:increased expression:lung RGD PMID:19915157 RGD:7240517 NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045 		JBrowse link
G XDH xanthine dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:2510358 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		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 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DPB1*0202 (human) RGD PMID:19165231 RGD:5143999 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112806077 Sharpr-MPRA regulatory region 13820 IAGP ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia ClinVar PMID:25741868 NCBI chr 2:216,412,246...216,412,593 JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP
ISS
EXP		 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 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      respiratory system disease 18368
        lower respiratory tract disease 5600
          lung disease 5553
            pulmonary artery disease 67
              pulmonary artery choriocarcinoma 0
              pulmonary artery leiomyosarcoma 0
              pulmonary embolism + 66
paths to the root