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GENE - TERM ANNOTATION REPORT

RGD ID: 18929797
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Slc25a5
Name: solute carrier family 25 member 5
Acc ID: DOID:0060821
Term: syndromic X-linked intellectual disability 14
Definition: A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)
Definition Source(s): PMID:17704778 "DO" "DO", PMID:22957832 "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)
Slc25a5 ISOSLC25A5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532
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