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GENE - TERM ANNOTATION REPORT

RGD ID: 12689709
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Gnb1
Name: G protein subunit beta 1
Acc ID: DOID:0070072
Term: autosomal dominant intellectual developmental disorder 42
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27108799 "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)
Gnb1 ISOGNB1 (Homo sapiens)7240710OMIM  
Gnb1 ISOGNB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42PMID:19344873 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:25741909 PMID:27108799 PMID:27513193 PMID:27668284 PMID:27759915 PMID:28087732 PMID:28492532 PMID:29174093 PMID:29694806 PMID:30194818 PMID:30504930 PMID:31034681 PMID:31735425 PMID:31785789 PMID:32134617 PMID:32581362 PMID:32901917 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 PMID:9596582
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