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GENE - TERM ANNOTATION REPORT

RGD ID: 69249
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pnck
Name: pregnancy up-regulated nonubiquitous CaM kinase
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", PMID: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)
Pnck ISOPNCK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephalyPMID:12180070 PMID:15841480 PMID:18562171 PMID:23810759 PMID:28492532
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