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GENE - TERM ANNOTATION REPORT

RGD ID: 12551382
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ctnnb1
Name: catenin beta 1
Acc ID: DOID:0070049
Term: autosomal dominant intellectual developmental disorder 19
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ctnnb1 ISOCTNNB1 (Homo sapiens)7240710OMIM  
Ctnnb1 ISOCTNNB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTSPMID:10966653 PMID:18414213 PMID:23033978 PMID:24033266 PMID:24614104 PMID:24668549 PMID:25326635 PMID:25326637 PMID:25326669 PMID:25741868 PMID:2614104 PMID:26350204 PMID:26502894 PMID:27848944 PMID:27915094 PMID:27959697 PMID:28191889 PMID:28330790 PMID:28333917 PMID:28492532 PMID:28514307 PMID:28575650 PMID:28856709 PMID:31526516 PMID:32369273 PMID:33004838 PMID:33350591 PMID:33475177 PMID:35099645
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