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GENE - TERM ANNOTATION REPORT

RGD ID: 11125
Species: Mus musculus
RGD Object: Gene
Symbol: Pmp22
Name: peripheral myelin protein 22
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)
Pmp22 ISOPMP22 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2EPMID:20301384 PMID:21252112 PMID:21692910 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 PMID:9040737 PMID:9371959 PMID:9712007
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