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GENE - TERM ANNOTATION REPORT

CRRD ID: 14285052
Species: Sus scrofa
CRRD Object: Gene
Symbol: NEFL
Name: neurofilament light
Acc ID: DOID:0110149
Term: Charcot-Marie-Tooth disease type 1F
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12566280
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13442387240710OMIM  
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f

PMID:25741868
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f

PMID:25741868, PMID:28492532
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1F

PMID:12477167, PMID:12566280, PMID:19158810, PMID:21840889, PMID:25448007, PMID:25552649, PMID:26645395, PMID:27206872, PMID:28492532
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1F

PMID:19158810
 ISSRGD:125450459068941ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1F

PMID:20039262
 ISSRGD:125450459068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.