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GENE - TERM ANNOTATION REPORT

RGD ID: 11861635
Species: Pan paniscus
RGD Object: Gene
Symbol: MPZ
Name: myelin protein zero
Acc ID: DOID:0110195
Term: Charcot-Marie-Tooth disease type 4E
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15184631 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537424 "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)
MPZ ISOMPZ (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenitalPMID:10737979 PMID:11545686 PMID:12805115 PMID:12807974 PMID:12845552 PMID:12953275 PMID:15094849 PMID:15241803 PMID:17468193 PMID:19454582 PMID:20456450 PMID:23342407 PMID:24033266 PMID:25741868 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29687021 PMID:33179255 PMID:7527371 PMID:8664899 PMID:9187667
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