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GENE - TERM ANNOTATION REPORT

RGD ID: 628890
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gja8
Name: gap junction protein, alpha 8
Acc ID: DOID:0060411
Term: chromosome 1q21.1 deletion syndrome
Definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/1q211-microdeletion "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)
Gja8 ISOGJA8 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gja8 ISOGJA8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndromePMID:25741868 PMID:26694549 PMID:28492532
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