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GENE - TERM ANNOTATION REPORT

RGD ID: 1320830
Species: Homo sapiens
RGD Object: Gene
Symbol: MTAP
Name: methylthioadenosine phosphorylase
Acc ID: DOID:9002013
Term: Facioscapulohumeral Muscular Dystrophy 4
Definition: A skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. Caused by the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (OMIM)
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)
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