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GENE - TERM ANNOTATION REPORT

RGD ID: 8803732
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Msh6
Name: mutS homolog 6
Acc ID: DOID:12704
Term: ataxia telangiectasia
Definition: An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "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)
Msh6 ISOMSH6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia-telangiectasiaPMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 PMID:28492532 PMID:30267214
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