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GENE - TERM ANNOTATION REPORT

RGD ID: 621458
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nefl
Name: neurofilament light chain
Acc ID: DOID:0110165
Term: Charcot-Marie-Tooth disease type 2E
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10841809 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17620486 "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)7240710OMIM  
Nefl ISONEFL (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nefl ISONEFL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2EPMID:10841809 PMID:11220745 PMID:12393795 PMID:12477167 PMID:12481988 PMID:12566280 PMID:14733962 PMID:15111691 PMID:15241803 PMID:15282209 PMID:16199547 PMID:16452125 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17576681 PMID:17620486 PMID:17881652 PMID:18023247 PMID:19123978 PMID:19158810 PMID:19286384 PMID:19458545 PMID:20039262 PMID:20301384 PMID:20421365 PMID:21149811 PMID:21168446 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22730194 PMID:22765307 PMID:2288874 PMID:23230147 PMID:23618875 PMID:24078732 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25583183 PMID:25614874 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26392352 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:29888333 PMID:30373780 PMID:30393079 PMID:31211173 PMID:31372974 PMID:31574566 PMID:31788662 PMID:31827005 PMID:32376792 PMID:33201363 PMID:34476298 PMID:35044100 PMID:35771920 PMID:9536098
Nefl ISSNefl (Mus musculus)13592920MouseDOOMIM:607684 
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