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GENE - TERM ANNOTATION REPORT

RGD ID: 1307734
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tbx1
Name: T-box transcription factor 1
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)
Tbx1 ISOTBX1 (Homo sapiens)155641243RGD  
Tbx1 ISOTBX1 (Homo sapiens)7240710OMIM  
Tbx1 ISOTBX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndromePMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:18375573 PMID:25741868 PMID:25860641 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479
Tbx1 ISSTbx1 (Mus musculus)13592920MouseDOOMIM:192430 
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