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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 blastoma
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Accession:DOID:4765 term browser browse the term
Definition:A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. (DO)
Synonyms:exact_synonym: blastoma of lung;   pulmonary blastomas
 primary_id: MESH:D018202
 xref: EFO:0007458;   NCI:C3732
For additional species annotation, visit the Alliance of Genome Resources.



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DICER1 syndrome 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 syndrome ClinVar PMID:28492532 NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: DICER1 syndrome OMIM
ClinVar
PMID:9295070 PMID:9345104 PMID:9536098 PMID:15987463 PMID:16095561 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
JBrowse link
G Gsc goosecoid homeobox ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111
JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
JBrowse link
G Ifi27l2b interferon, alpha-inducible protein 27 like 2B ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,545,029...122,563,651
Ensembl chr 6:122,545,061...122,563,644
JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
JBrowse link
G Serpina11 serpin family A member 11 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
JBrowse link
G Serpina12 serpin family A member 12 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,952,552...122,967,271
Ensembl chr 6:122,952,552...122,967,271
JBrowse link
G Serpina1f serpin family A member 1F ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
JBrowse link
G Serpina4 serpin family A member 4 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
JBrowse link
G Serpina5 serpin family A member 5 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:123,009,224...123,028,412
Ensembl chr 6:123,023,306...123,028,407
JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
JBrowse link
G Serpina9 serpin family A member 9 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,918,819...122,936,000
Ensembl chr 6:122,918,880...122,936,000
JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: DICER1 syndrome ClinVar PMID:28492532 NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
JBrowse link
pleuropulmonary blastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III 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:19556464 PMID:21036787 PMID:21266384 PMID:21501861 PMID:23728841 More... RGD:149735200, RGD:11552609 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Fgf9 fibroblast growth factor 9 ISS OMIM:601200 MouseDO NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
JBrowse link
G Yy1 YY1 transcription factor ISS OMIM:601200 MouseDO NCBI chr 6:127,706,739...127,731,907
Ensembl chr 6:127,707,596...127,732,747
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    disease of cellular proliferation 7348
      Neoplasms by Histologic Type 5063
        Complex and Mixed Neoplasms 264
          pulmonary blastoma 26
            DICER1 syndrome 24
            classic pulmonary blastoma 0
            epithelial predominant pulmonary blastoma 0
            pleuropulmonary blastoma 3
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      respiratory system disease 3409
        thoracic disease 1966
          Thoracic Neoplasms 1436
            Respiratory Tract Neoplasms 992
              respiratory system cancer 777
                lung cancer 745
                  pulmonary blastoma 26
                    DICER1 syndrome 24
                    classic pulmonary blastoma 0
                    epithelial predominant pulmonary blastoma 0
                    pleuropulmonary blastoma 3
paths to the root