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GENE - TERM ANNOTATION REPORT

RGD ID: 14285052
Species: Sus scrofa
RGD Object: Gene
Symbol: NEFL
Name: neurofilament light chain
Acc ID: DOID:0050538
Term: Charcot-Marie-Tooth disease type 1
Definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.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)
NEFL ISONEFL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IPMID:12566280 PMID:22765307 PMID:25741868 PMID:26467025 PMID:28492532
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