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GENE - TERM ANNOTATION REPORT

RGD ID: 1550466
Species: Mus musculus
RGD Object: Gene
Symbol: Ctnnb1
Name: catenin (cadherin associated protein), beta 1
Acc ID: DOID:2154
Term: nephroblastoma
Definition: A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
Definition Source(s): MESH:D009396, http://en.wikipedia.org/wiki/Wilms%27_tumor
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:7337052289833RGDprotein:increased expression:kidney

 
 ISORGD:7337052289834RGDDNA:mutations: :multiple

 
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Wilms Tumor

PMID:10027390, PMID:10435629, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:24788118, PMID:25157968, PMID:26619011, PMID:26822237, PMID:9065403
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Wilms Tumor

PMID:26822237
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Wilms Tumor

PMID:26822237, PMID:9065402
 ISORGD:73370511554173CTDCTD Direct Evidence: marker/mechanism

PMID:21237236, PMID:28825729
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.