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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 chr12:103,287,401...103,322,260
Ensembl chr12:103,287,401...103,322,260 		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 chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:102,865,565...102,866,793
Ensembl chr12:102,865,575...102,866,785 		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 chr12:103,374,235...103,392,106
Ensembl chr12:103,374,241...103,392,089 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III IMP
ISO		 DNA:mutations:cds
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma		 CTD
ClinVar
RGD		 PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... RGD:149735200, RGD:11552609 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		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 chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324 		JBrowse link
G Fgf9 fibroblast growth factor 9 IAGP MouseDO NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177 		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 chr12:104,437,468...104,439,495
Ensembl chr12:104,437,468...104,439,589 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,400,448...103,406,504
Ensembl chr12:103,400,470...103,406,498 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,400,132...103,409,939
Ensembl chr12:103,408,426...103,409,939 		JBrowse link
G Otub2 OTU domain, 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 chr12:103,343,244...103,372,609
Ensembl chr12:103,354,941...103,372,609 		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 chr12:103,498,509...103,580,098
Ensembl chr12:103,498,542...103,580,090 		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 chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409 		JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703 		JBrowse link
G Serpina11 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,946,502...103,956,227
Ensembl chr12:103,946,502...103,956,216 		JBrowse link
G Serpina12 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,995,028...104,010,702
Ensembl chr12:103,995,028...104,010,702 		JBrowse link
G Serpina1f serine (or cysteine) peptidase inhibitor, clade A, member 1F ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,654,303...103,661,788
Ensembl chr12:103,654,303...103,661,788 		JBrowse link
G Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804 		JBrowse link
G Serpina4-ps1 serine (or cysteine) peptidase inhibitor, clade A, member 4, pseudogene 1 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:104,044,218...104,053,179
Ensembl chr12:104,046,908...104,052,983 		JBrowse link
G Serpina5 serine (or cysteine) peptidase inhibitor, clade A, member 5 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:104,065,572...104,072,397
Ensembl chr12:104,067,372...104,072,396 		JBrowse link
G Serpina6 serine (or cysteine) peptidase inhibitor, clade A, member 6 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471 		JBrowse link
G Serpina9 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:103,962,877...103,979,911
Ensembl chr12:103,961,002...103,980,014 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966 		JBrowse link
G Unc79 unc-79 homolog ISO ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr12:102,913,642...103,150,487
Ensembl chr12:102,915,118...103,150,324 		JBrowse link
G Yy1 YY1 transcription factor IAGP OMIM:601200 MouseDO NCBI chr12:108,758,841...108,786,074
Ensembl chr12:108,758,899...108,786,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16178
    disease of cellular proliferation 7617
      Neoplasms by Histologic Type 5378
        Complex and Mixed Neoplasms 367
          pulmonary blastoma 25
            pleuropulmonary blastoma 25
Path 2
Term Annotations click to browse term
  disease 16178
    disease of anatomical entity 15792
      respiratory system disease 3567
        thoracic disease 1929
          Thoracic Neoplasms 1496
            Respiratory Tract Neoplasms 1041
              respiratory system cancer 821
                lung cancer 791
                  pulmonary blastoma 25
                    pleuropulmonary blastoma 25
paths to the root