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GENE - TERM ANNOTATION REPORT

RGD ID: 1353175
Species: Homo sapiens
RGD Object: Gene
Symbol: IQSEC2
Name: IQ motif and Sec7 domain ArfGEF 2
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)
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:25167861
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:21686261 PMID:25741868 PMID:26793055 PMID:27665735 PMID:28492532 PMID:30666632 PMID:33368194
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:25741868 PMID:28492532
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:21686261 PMID:25741868 PMID:26633542 PMID:26793055 PMID:27665735 PMID:28492532
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:25741868
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

 
IQSEC2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability

PMID:20473311 PMID:25741868 PMID:3177466
IQSEC2 IAGP 8699517HPO OMIM:309530
IQSEC2 IAGP 8699517HPO ORPHA:217377
IQSEC2 IAGP 8699517HPO ORPHA:819
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