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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 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,934,166...93,976,570
Ensembl chr14:93,934,166...93,976,739 		JBrowse link
G BTBD7 BTB domain containing 7 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,237,550...93,333,036
Ensembl chr14:93,237,550...93,333,092 		JBrowse link
G COX8C cytochrome c oxidase subunit 8C IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,347,182...93,348,356
Ensembl chr14:93,347,182...93,348,356 		JBrowse link
G DDX24 DEAD-box helicase 24 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,048,287...94,081,202
Ensembl chr14:94,048,287...94,081,202 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP
ISO
EXP		 ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma
DNA:mutations:cds
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9295070 PMID:9345104 PMID:9536098 PMID:15242644 PMID:15987463 More... RGD:149735200, RGD:11552609 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G FAM181A family with sequence similarity 181 member A IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,918,894...93,929,608
Ensembl chr14:93,918,894...93,929,608 		JBrowse link
G FGF9 fibroblast growth factor 9 ISS MouseDO NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GSC goosecoid homeobox IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113 		JBrowse link
G IFI27 interferon alpha inducible protein 27 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,105,894...94,116,690
Ensembl chr14:94,104,836...94,116,695 		JBrowse link
G IFI27L1 interferon alpha inducible protein 27 like 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,081,310...94,102,709
Ensembl chr14:94,081,301...94,103,846 		JBrowse link
G IFI27L2 interferon alpha inducible protein 27 like 2 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,127,781...94,129,604
Ensembl chr14:94,127,779...94,130,253 		JBrowse link
G LOC130056358 ATAC-STARR-seq lymphoblastoid silent region 6042 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar NCBI chr14:95,157,240...95,157,699 JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,026,340...94,048,930
Ensembl chr14:94,026,340...94,048,930 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,174,322...94,279,734
Ensembl chr14:94,146,128...94,279,734 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,718,298...93,788,994
Ensembl chr14:93,718,298...93,788,485 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA10 serpin family A member 10 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268 		JBrowse link
G SERPINA11 serpin family A member 11 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,442,464...94,452,800
Ensembl chr14:94,442,464...94,452,800 		JBrowse link
G SERPINA12 serpin family A member 12 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,487,279...94,517,844
Ensembl chr14:94,487,274...94,517,844 		JBrowse link
G SERPINA2 serpin family A member 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,364,318...94,366,702
Ensembl chr14:94,364,316...94,366,698 		JBrowse link
G SERPINA3 serpin family A member 3 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055 		JBrowse link
G SERPINA4 serpin family A member 4 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913 		JBrowse link
G SERPINA5 serpin family A member 5 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,581,426...94,593,118
Ensembl chr14:94,561,442...94,593,118 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SERPINA9 serpin family A member 9 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:94,462,721...94,476,197
Ensembl chr14:94,462,717...94,479,689 		JBrowse link
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215 		JBrowse link
G UNC79 unc-79 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ClinVar PMID:26545620 PMID:26555935 PMID:28492532 NCBI chr14:93,333,182...93,707,876
Ensembl chr14:93,333,219...93,707,876 		JBrowse link
G YY1 YY1 transcription factor ISS OMIM:601200 MouseDO NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97544
    disease of cellular proliferation 22976
      Neoplasms by Histologic Type 18684
        Complex and Mixed Neoplasms 409
          pulmonary blastoma 28
            pleuropulmonary blastoma 28
Path 2
Term Annotations click to browse term
  disease 97544
    disease of anatomical entity 91158
      respiratory system disease 10507
        thoracic disease 5083
          Thoracic Neoplasms 4567
            Respiratory Tract Neoplasms 2139
              respiratory system cancer 1903
                lung cancer 1865
                  pulmonary blastoma 28
                    pleuropulmonary blastoma 28
paths to the root