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GENE - TERM ANNOTATION REPORT

RGD ID: 8799538
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Timm8b
Name: translocase of inner mitochondrial membrane 8 homolog B
Acc ID: DOID:0080533
Term: Carney-Stratakis syndrome
Definition: A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10643/index "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/31174229 "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)
Timm8b ISOTIMM8B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Carney-Stratakis syndromePMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532
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