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GENE - TERM ANNOTATION REPORT

RGD ID: 14154832
Species: Sus scrofa
RGD Object: Gene
Symbol: CEP290
Name: centrosomal protein 290
Acc ID: DOID:0110873
Term: holoprosencephaly 9
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14581620 "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)
CEP290 ISOCEP290 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar cystPMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21245082 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31734136
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