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GENE - TERM ANNOTATION REPORT

RGD ID: 1560056
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Usp9x
Name: ubiquitin specific peptidase 9, X-linked
Acc ID: DOID:0112025
Term: female-restricted syndromic X-linked intellectual disability 99
Definition: A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26833328/ "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)
Usp9x ISOUSP9X (Homo sapiens)7240710OMIM  
Usp9x ISOUSP9X (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Usp9x ISOUSP9X (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related conditionPMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892
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