Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: ORDO:284343
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      DICER1 syndrome 24
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      respiratory system disease 3356
        thoracic disease 1928
          Thoracic Neoplasms 1397
            Respiratory Tract Neoplasms 949
              respiratory system cancer 709
                lung cancer 682
                  pulmonary blastoma 26
                    DICER1 syndrome 24
paths to the root