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GENE - TERM ANNOTATION REPORT

RGD ID: 1307366
Species: Rattus norvegicus
RGD Object: Gene
Symbol: C2cd3
Name: C2 domain containing 3 centriole elongation regulator
Acc ID: DOID:0110980
Term: Joubert syndrome 1
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19668216 "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)
C2cd3 ISOC2CD3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndromePMID:24997988 PMID:25741868 PMID:26092869
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