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GENE - TERM ANNOTATION REPORT

RGD ID: 18618807
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: CIB2
Name: calcium and integrin binding family member 2
Acc ID: DOID:0110826
Term: Usher syndrome type 1
Definition: An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/usher-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1265/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "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)
CIB2 ISOCIB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Usher syndrome type 1PMID:18505454 PMID:20301442 PMID:23023331
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