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GENE - TERM ANNOTATION REPORT

RGD ID: 12503914
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pak3
Name: p21 (RAC1) activated kinase 3
Acc ID: DOID:0112051
Term: non-syndromic X-linked intellectual disability 30
Definition: A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10946356/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/9332663/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/9731525/ "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)
Pak3 ISOPAK3 (Homo sapiens)7240710OMIM  
Pak3 ISOPAK3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47PMID:10946356 PMID:12884430 PMID:17853471 PMID:18523455 PMID:25649377 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29246092 PMID:30542205 PMID:31843706 PMID:32050918 PMID:8826460 PMID:9332663 PMID:9731525
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