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GENE - TERM ANNOTATION REPORT

RGD ID: 1562034
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cep41
Name: centrosomal protein 41
Acc ID: DOID:0111004
Term: Joubert syndrome 9
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18387594 "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)
Cep41 ISOCEP41 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 9/15, digenicPMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616
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