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GENE - TERM ANNOTATION REPORT

RGD ID: 11718348
Species: Pan paniscus
RGD Object: Gene
Symbol: SCAMP5
Name: secretory carrier membrane protein 5
Acc ID: DOID:0081206
Term: autosomal recessive intellectual developmental disorder 41
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25847626/ "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)
SCAMP5 ISOSCAMP5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41PMID:25741868 PMID:31439720 PMID:33390987
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