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GENE - TERM ANNOTATION REPORT

RGD ID: 1589725
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tspan7
Name: tetraspanin 7
Acc ID: DOID:0112024
Term: non-syndromic X-linked intellectual disability 58
Definition: A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10449641/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/12070254/ "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)
Tspan7 ISOTSPAN7 (Homo sapiens)7240710OMIM  
Tspan7 ISOTSPAN7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tspan7 ISOTSPAN7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58PMID:10655063 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532
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