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GENE - TERM ANNOTATION REPORT

RGD ID: 1313886
Species: Mus musculus
RGD Object: Gene
Symbol: Mbd4
Name: methyl-CpG binding domain protein 4
Acc ID: DOID:9000676
Term: Tumor Predisposition Syndrome 2
Definition: An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. Caused by homozygous or compound heterozygous germline mutation in the MBD4 gene on chromosome 3q21.
Definition Source(s): OMIM:619975
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)
Mbd4susceptibilityISOMBD4 (Homo sapiens)7240710OMIM  
Mbd4 ISOMBD4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tumor predisposition syndrome 2PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:31322271 PMID:32239153 PMID:34106356 PMID:35460607
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