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GENE - TERM ANNOTATION REPORT

RGD ID: 1350145
Species: Homo sapiens
RGD Object: Gene
Symbol: MED12
Name: mediator complex subunit 12
Acc ID: HP:0100543
Term: Cognitive impairment
Definition: Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
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)
MED12 IAGP 12910947RGDassociated with Mental Retardation, X-Linked;DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) 
MED12 IAGP 12910948RGDassociated with Opitz-Kaveggia Syndrome;DNA:missense mutation:cds:p.G958E(human) 
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