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GENE - TERM ANNOTATION REPORT

RGD ID: 3243
Species: Rattus norvegicus
RGD Object: Gene
Symbol: P2rx6
Name: purinergic receptor P2X 6
Acc ID: DOID:11198
Term: DiGeorge syndrome
Definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome "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)
P2rx6 ISOP2RX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndromePMID:31690835 PMID:32581362
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