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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:0070049
Term: autosomal dominant non-syndromic intellectual disability 19
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23033978
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:7337057240710OMIM  
 ISORGD:7337058554872ClinVarClinVar Annotator: match by OMIM:615075

 
 ISORGD:7337058554872ClinVarClinVar Annotator: match by OMIM:615075

PMID:25326637
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:11719191, PMID:15713948, PMID:15866163, PMID:15866164, PMID:18334222, PMID:1999432, PMID:21903672, PMID:22110128, PMID:22495309, PMID:22682243, PMID:23033978, PMID:23499309, PMID:24431282, PMID:24614104, PMID:24668549, PMID:25326635, PMID:25326669, PMID:25533962, PMID:25741868, PMID:27915094, PMID:28575650, PMID:8227220, PMID:8582267, PMID:9060476
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:23033978
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:23033978, PMID:25741868
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:24614104
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:24668549, PMID:25741868, PMID:2614104, PMID:27915094
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:25326635, PMID:25741868
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:25741868
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:25741868, PMID:27915094
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:28514307
 ISORGD:7337058554872ClinVarClinVar Annotator: match by term: Mental retardation, autosomal dominant 19

PMID:28575650
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.