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GENE - TERM ANNOTATION REPORT

RGD ID: 1310255
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col9a3
Name: collagen type IX alpha 3 chain
Acc ID: DOID:0080463
Term: developmental and epileptic encephalopathy 33
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23033978 "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)
Col9a3 ISOCOL9A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059
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