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GENE - TERM ANNOTATION REPORT

RGD ID: 14298575
Species: Sus scrofa
RGD Object: Gene
Symbol: CEP152
Name: centrosomal protein 152
Acc ID: DOID:0070292
Term: primary autosomal recessive microcephaly 9
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20598275 "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)
CEP152 ISOCEP152 (Homo sapiens)7240710OMIM  
CEP152 ISOCEP152 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessivePMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 PMID:25741868 PMID:25996639 PMID:28454995 PMID:28492532 PMID:34402213
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