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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:pleuropulmonary blastoma
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Accession:DOID:4769 term browser browse the term
Definition:A pulmonary blastoma that derives_from the lung or pleural cavity. (DO)
Synonyms:exact_synonym: DICER1-RELATED PLEUROPULMONARY BLASTOMA CANCER PREDISPOSITION SYNDROME;   PPB;   PPB familial tumor and dysplasia syndrome;   PPBFTDS
 primary_id: MESH:C537516
 xref: EFO:0009052;   GARD:8757;   ICDO:8973/3;   NCI:C5669;   ORDO:64742
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
pleuropulmonary blastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASB2 ankyrin repeat and SOCS box containing 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,210,885...115,258,863
Ensembl chr 7:115,208,700...115,258,654 		JBrowse link
G BTBD7 BTB domain containing 7 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:114,617,489...114,707,056
Ensembl chr 7:114,617,508...114,707,095 		JBrowse link
G DDX24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,328,122...115,347,355
Ensembl chr 7:115,328,121...115,352,929 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma ClinVar PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224 		JBrowse link
G FAM181A family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,204,147...115,208,845 JBrowse link
G FGF9 fibroblast growth factor 9 ISO MouseDO NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408 		JBrowse link
G GSC goosecoid homeobox ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:116,099,053...116,101,153
Ensembl chr 7:116,098,327...116,101,338 		JBrowse link
G ISG12(A) putative ISG12(a) protein ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,356,619...115,361,537
Ensembl chr 7:115,356,517...115,361,538 		JBrowse link
G LOC100152306 interferon alpha-inducible protein 27-like protein 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,363,649...115,370,861 JBrowse link
G LOC100157117 kallistatin ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,781,772...115,792,469
Ensembl chr 7:115,783,931...115,792,466 		JBrowse link
G LOC100157935 cytochrome c oxidase subunit 8C, mitochondrial ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:114,727,841...114,729,102 JBrowse link
G LOC106504546 serpin A12 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,720,892...115,734,810
Ensembl chr 7:115,721,098...115,734,978 		JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,304,809...115,326,055
Ensembl chr 7:115,304,871...115,327,054 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,412,457...115,523,232
Ensembl chr 7:115,412,449...115,522,686 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,038,626...115,101,431
Ensembl chr 7:115,038,630...115,100,756 		JBrowse link
G SERPINA1 serpin family A member 1 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,666,071...115,681,890
Ensembl chr 7:115,666,070...115,681,790 		JBrowse link
G SERPINA3-2 alpha-1-antichymotrypsin 2 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,978,453...115,987,392
Ensembl chr 7:115,976,397...115,987,453 		JBrowse link
G SERPINA5 serpin family A member 5 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,799,414...115,810,825
Ensembl chr 7:115,802,150...115,810,824 		JBrowse link
G SERPINA6 serpin family A member 6 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:115,535,552...115,554,536
Ensembl chr 7:115,535,697...115,554,570 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:114,590,920...114,609,867
Ensembl chr 7:114,590,945...114,609,858 		JBrowse link
G UNC79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr 7:114,766,273...115,028,344
Ensembl chr 7:114,766,489...115,027,711 		JBrowse link
G YY1 YY1 transcription factor ISO OMIM:601200 MouseDO NCBI chr 7:121,132,168...121,170,699
Ensembl chr 7:121,132,191...121,170,697 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15347
    disease of cellular proliferation 7277
      Neoplasms by Histologic Type 5134
        Complex and Mixed Neoplasms 349
          pulmonary blastoma 23
            pleuropulmonary blastoma 23
Path 2
Term Annotations click to browse term
  disease 15347
    disease of anatomical entity 15038
      respiratory system disease 4851
        thoracic disease 3721
          Thoracic Neoplasms 985
            Respiratory Tract Neoplasms 982
              respiratory system cancer 784
                lung cancer 756
                  pulmonary blastoma 23
                    pleuropulmonary blastoma 23
paths to the root