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GENE - TERM ANNOTATION REPORT

RGD ID: 1347094
Species: Homo sapiens
RGD Object: Gene
Symbol: IKBKG
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Acc ID: DOID:0111932
Term: severe congenital encephalopathy due to MECP2 mutation
Definition: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/12615169/ "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)
IKBKG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephalyPMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532
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