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GENE - TERM ANNOTATION REPORT

RGD ID: 3802
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Syp
Name: synaptophysin
Acc ID: DOID:0112035
Term: non-syndromic X-linked intellectual disability 96
Definition: A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19377476/ "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)
Syp ISOSYP (Homo sapiens)7240710OMIM  
Syp ISOSYP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Syp ISOSYP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96PMID:19377476 PMID:23966691 PMID:25741868
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