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GENE - TERM ANNOTATION REPORT

RGD ID: 621543
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Chek2
Name: checkpoint kinase 2
Acc ID: DOID:0111252
Term: vestibular schwannomatosis
Definition: A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/35674741/ "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)
Chek2 ISOCHEK2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurofibromatosis, type 2PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 PMID:9643284 PMID:9817927
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