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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:DICER1 syndrome
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Accession:DOID:0081063 term browser browse the term
Definition:A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)
Synonyms:exact_synonym: PPB familial tumor susceptibility syndrome;   Pleuro-pulmonary blastoma familial tumor susceptibility;   Pleuro-pulmonary blastoma familial tumor susceptibility syndrome;   Pleuropulmonary blastoma familial tumor susceptibility syndrome
 primary_id: OMIM:601200
 xref: EFO:0009068;   ORDO:284343


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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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:15242644 PMID:15987463 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,545,067...122,563,657
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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:123,323,623...123,331,181
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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 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:26545620 PMID:26555935 PMID:28492532 NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      DICER1 syndrome 24
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      respiratory system disease 3610
        thoracic disease 2002
          Thoracic Neoplasms 1471
            Respiratory Tract Neoplasms 1022
              respiratory system cancer 812
                lung cancer 781
                  pulmonary blastoma 25
                    DICER1 syndrome 24
paths to the root