Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 621548
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Zbtb18
Name: zinc finger and BTB domain containing 18
Acc ID: DOID:0070052
Term: autosomal dominant intellectual developmental disorder 22
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24193349 "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)
Zbtb18 ISOZBTB18 (Homo sapiens)7240710OMIM  
Zbtb18 ISOZBTB18 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Zbtb18 ISOZBTB18 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder | ClinVar Annotator: match by term: ZBTB18-related conditionPMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:28492532 PMID:29158550 PMID:29573576 PMID:31238879 PMID:33608456
Go Back to source page   Continue to Ontology report