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GENE - TERM ANNOTATION REPORT

RGD ID: 18643655
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: KIF7
Name: kinesin family member 7
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)
KIF7 ISOKIF7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial aplasia of the vermisPMID:21633164 PMID:25741868 PMID:28492532
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