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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 embolism
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Accession:DOID:9477 term browser browse the term
Definition:Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.
Synonyms:exact_synonym: Pulmonary Thromboembolism;   pulmonary artery embolism;   pulmonary embolisms;   pulmonary embolus;   pulmonary thromboembolisms
 primary_id: MESH:D011655
 alt_id: RDO:0002265
 xref: ICD10CM:I26;   NCI:C50713
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 CTD PMID:20622881 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 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 chr13:76,513,463...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 2:168,365,364...168,381,533
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 Hp haptoglobin IEP
ISO
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 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
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 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:16199547 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 17445
    disease of anatomical entity 16777
      cardiovascular system disease 4542
        vascular disease 3461
          artery disease 2419
            pulmonary artery disease 33
              pulmonary embolism 33
                Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis 0
                Schimke immuno-osseous dysplasia 1
                puerperal pulmonary embolism 0
                pulmonary embolism and infarction 0
paths to the root