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GENE - TERM ANNOTATION REPORT

RGD ID: 18405073
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: TPP2
Name: tripeptidyl peptidase 2
Acc ID: DOID:0110878
Term: holoprosencephaly 5
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9771712 "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)
TPP2 ISOTPP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly 5PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992
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