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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:3840
Term: craniopharyngioma
Definition: A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)
Definition Source(s): MESH:D003397
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:7337058554872ClinVarClinVar Annotator: match by term: Craniopharyngioma

PMID:10192393, PMID:25157968, PMID:26619011, PMID:26822237, PMID:9927029
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Craniopharyngioma

PMID:23265383, PMID:25157968, PMID:26619011, PMID:9927029
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Craniopharyngioma

PMID:25157968
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Craniopharyngioma

PMID:25157968, PMID:26619011
 ISORGD:73370511554173CTDCTD Direct Evidence: marker/mechanism

PMID:24413733
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.