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GENE - TERM ANNOTATION REPORT

RGD ID: 14080548
Species: Sus scrofa
RGD Object: Gene
Symbol: ADGRG2
Name: adhesion G protein-coupled receptor G2
Acc ID: DOID:0080467
Term: developmental and epileptic encephalopathy 2
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15492925 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22872100 "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)
ADGRG2 ISOADGRG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
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