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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:12583
Term: velocardiofacial syndrome
Definition: A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)
Definition Source(s): https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19243607 "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: Velocardiofacial syndromePMID:25741868
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