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GENE - TERM ANNOTATION REPORT

RGD ID: 12017676
Species: Pan paniscus
RGD Object: Gene
Symbol: GABRD
Name: gamma-aminobutyric acid type A receptor subunit delta
Acc ID: DOID:0110994
Term: Joubert syndrome 25
Definition: A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26477546 "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)
GABRD ISOGABRD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 25PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594
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