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GENE - TERM ANNOTATION REPORT

RGD ID: 621890
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dag1
Name: dystroglycan 1
Acc ID: DOID:0050559
Term: Fukuyama congenital muscular dystrophy
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy "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)
Dag1 ISODAG1 (Homo sapiens)11537476RGDprotein:decreased expression:brain, heart, skeletal muscle 
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