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GENE - TERM ANNOTATION REPORT

RGD ID: 620810
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rtn4r
Name: reticulon 4 receptor
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)
Rtn4r ISORTN4R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndromePMID:25741868
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