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GENE - TERM ANNOTATION REPORT

RGD ID: 1307932
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cldn4
Name: claudin 4
Acc ID: DOID:1928
Term: Williams-Beuren syndrome
Definition: A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/williams-syndrome "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/williams-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1249/ "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)
Cldn4 ISOCLDN4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Williams syndromePMID:25741868
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