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GENE - TERM ANNOTATION REPORT

RGD ID: 1349232
Species: Homo sapiens
RGD Object: Gene
Symbol: MECP2
Name: methyl-CpG binding protein 2
Acc ID: DOID:0050776
Term: non-syndromic X-linked intellectual disability
Definition: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7011032 "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)
MECP2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Non-syndromic X-linked intellectual disabilityPMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567
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