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GENE - TERM ANNOTATION REPORT

RGD ID: 620312
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ppib
Name: peptidylprolyl isomerase B
Acc ID: DOID:0110349
Term: osteogenesis imperfecta type 9
Definition: An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19781681 "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)
Ppib ISOPPIB (Homo sapiens)7240710OMIM  
Ppib ISOPPIB (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ppib ISOPPIB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related conditionPMID:19781681 PMID:20089953 PMID:20484404 PMID:21239989 PMID:21282188 PMID:25741868 PMID:27509835 PMID:28492532 PMID:29620724
Ppib ISSPpib (Mus musculus)13592920MouseDOOMIM:259440 
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