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GENE - TERM ANNOTATION REPORT

RGD ID: 1310512
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mpv17
Name: mitochondrial inner membrane protein MPV17
Acc ID: DOID:0111559
Term: Charcot-Marie-Tooth disease type 2EE
Definition: A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26437932 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "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)
Mpv17 ISOMPV17 (Homo sapiens)7240710OMIM  
Mpv17 ISOMPV17 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EEPMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:22964873 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25741916 PMID:25861990 PMID:26437932 PMID:26467025 PMID:26741492 PMID:27536553 PMID:27848944 PMID:28209105 PMID:28492532 PMID:28673863 PMID:29282788 PMID:29318572 PMID:30273399 PMID:30298599 PMID:30782936 PMID:30833296 PMID:31319225 PMID:31664948 PMID:31673878 PMID:32703289 PMID:33258288 PMID:33486010 PMID:34476298 PMID:34979697 PMID:9536098
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