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GENE - TERM ANNOTATION REPORT

RGD ID: 1560168
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dis3l2
Name: DIS3-like 3'-5' exoribonuclease 2
Acc ID: DOID:0060476
Term: Perlman syndrome
Definition: A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Perlman_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/18780370, https://www.ncbi.nlm.nih.gov/pubmed/22306653
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:16047547240710OMIM  
 ISORGD:16047548554872ClinVarClinVar Annotator: match by OMIM:267000

 
 ISORGD:16047548554872ClinVarClinVar Annotator: match by OMIM:267000

PMID:10508986, PMID:22306653
 ISORGD:16047548554872ClinVarClinVar Annotator: match by OMIM:267000

PMID:22306653
 ISORGD:16047548554872ClinVarClinVar Annotator: match by OMIM:267000

PMID:22306653, PMID:6093533
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:22306653, PMID:25741868, PMID:28492532
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:22306653, PMID:28492532
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:25670083, PMID:25741868, PMID:28492532
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:25741868
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:25741868, PMID:28492532
 ISORGD:16047548554872ClinVarClinVar Annotator: match by term: Renal hamartomas nephroblastomatosis and fetal gigantism

PMID:28492532
 ISORGD:160475411554173CTDCTD Direct Evidence: marker/mechanism

PMID:22306653
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.