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GENE - TERM ANNOTATION REPORT

RGD ID: 1314134
Species: Mus musculus
RGD Object: Gene
Symbol: Fkrp
Name: fukutin related protein
Acc ID: DOID:0050588
Term: muscular dystrophy-dystroglycanopathy type B1
Definition: A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)
Definition Source(s): https://www.omim.org/entry/613155 "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)
Fkrp IAGP 13592920MouseDOOMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 
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