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GENE - TERM ANNOTATION REPORT

RGD ID: 736723
Species: Homo sapiens
RGD Object: Gene
Symbol: NEFH
Name: neurofilament heavy chain
Acc ID: DOID:0110180
Term: Charcot-Marie-Tooth disease axonal type 2CC
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27040688 "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)
NEFH IAGP 7240710OMIM  
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CCPMID:27040688
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CCPMID:27040688 PMID:28492532 PMID:29587262 PMID:30992180
NEFH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related conditionPMID:28492532
NEFH IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEFH-related condition 
NEFH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related conditionPMID:25741868 PMID:28492532
NEFH IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related conditionPMID:25741868
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEFH-related conditionPMID:25741868 PMID:28492532 PMID:28749476 PMID:35047667
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CCPMID:25741868 PMID:30992180
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEFH-related conditionPMID:25741868 PMID:28492532 PMID:29411640
NEFH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEFH-related conditionPMID:25741868 PMID:28430856 PMID:28492532 PMID:32293029 PMID:38775181 PMID:7849698
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