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GENE - TERM ANNOTATION REPORT

RGD ID: 1354498
Species: Homo sapiens
RGD Object: Gene
Symbol: RPS6KA3
Name: ribosomal protein S6 kinase A3
Acc ID: HP:0001249
Term: Intellectual disability
Definition: Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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)
RPS6KA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nonprogressive mental retardation

PMID:11180593 PMID:19377476 PMID:25741868 PMID:28492532
RPS6KA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:25741868
RPS6KA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:25741868
RPS6KA3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:10094187 PMID:11180593 PMID:16879200 PMID:25741868
RPS6KA3 IAGP 8699517HPO OMIM:300844
RPS6KA3 IAGP 8699517HPO OMIM:303600
RPS6KA3 IAGP 8699517HPO ORPHA:192
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