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GENE - TERM ANNOTATION REPORT

RGD ID: 1305852
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fkrp
Name: fukutin related protein
Acc ID: DOID:9884
Term: muscular dystrophy
Definition: A myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Muscular_dystrophy "DO" "DO", http://www.ninds.nih.gov/disorders/md/md.htm "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 ISOFKRP (Homo sapiens)11064865RGDDNA:missense mutations, nonsense mutations:exon:multiple 
Fkrp ISOFKRP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:29571322
Fkrp ISOFKRP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophyPMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740 PMID:31931849 PMID:34653404
Fkrp ISSFkrp (Mus musculus)13592920MouseDOOMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416 
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