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GENE - TERM ANNOTATION REPORT

RGD ID: 1552280
Species: Mus musculus
RGD Object: Gene
Symbol: Nefl
Name: neurofilament, light polypeptide
Acc ID: DOID:11720
Term: distal myopathy
Definition: A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/distal-myopathy/ "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)
Nefl ISONEFL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal muscle weaknessPMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 PMID:19286384 PMID:20421365 PMID:21168446 PMID:21493625 PMID:2288874 PMID:23230147 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28501821 PMID:31211173 PMID:31574566
Nefl ISONEFL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distal muscle weaknessPMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:21168446 PMID:25741868 PMID:28492532
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