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GENE - TERM ANNOTATION REPORT

RGD ID: 1308094
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tbx15
Name: T-box transcription factor 15
Acc ID: DOID:0050722
Term: PHGDH deficiency
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase "DO" "DO", http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 "DO" "DO", http://www.omim.org/entry/601815 "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)
Tbx15 ISOTBX15 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PHGDH deficiencyPMID:14645240 PMID:24836451 PMID:28492532
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