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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:0110158
Term: Charcot-Marie-Tooth disease type 2I
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10071056 "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)7240710OMIM  
MPZ ISOMPZ (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2IPMID:10071056 PMID:10214757 PMID:10329755 PMID:10399750 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11545686 PMID:11935267 PMID:12207153 PMID:12242557 PMID:12402337 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:14638973 PMID:14711881 PMID:15004559 PMID:15159512 PMID:15241803 PMID:15249646 PMID:15377707 PMID:16279991 PMID:16543539 PMID:16775239 PMID:16987171 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20385006 PMID:20461396 PMID:20556410 PMID:21149811 PMID:22433810 PMID:24053775 PMID:24444136 PMID:25326637 PMID:25429913 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:27639257 PMID:28286897 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 PMID:31902012 PMID:33179255 PMID:34008892 PMID:3467805 PMID:7505151 PMID:7506095 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:9595994 PMID:9633821
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