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GENE - TERM ANNOTATION REPORT

RGD ID: 1310726
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cep135
Name: centrosomal protein 135
Acc ID: DOID:0070282
Term: primary autosomal recessive microcephaly 8
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22521416 "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)
Cep135 ISOCEP135 (Homo sapiens)7240710OMIM  
Cep135 ISOCEP135 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessivePMID:18414213 PMID:22521416 PMID:25741868 PMID:26657937 PMID:28492532 PMID:30214071 PMID:31696992 PMID:32643282
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