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GENE - TERM ANNOTATION REPORT

CRRD ID: 8701935
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Cspg4
Name: chondroitin sulfate proteoglycan 4
Acc ID: DOID:0060395
Term: chromosome 15q24 deletion syndrome
Definition: A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)
Definition Source(s): https://www.omim.org/entry/613406
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:117524509068941ClinVarClinVar Annotator: match by term: 15q24 Microdeletion Syndrome

PMID:18755302, PMID:19557438, PMID:21681106
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.