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GENE - TERM ANNOTATION REPORT

RGD ID: 8731282
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Mfn2
Name: mitofusin 2
Acc ID: DOID:0050541
Term: Charcot-Marie-Tooth disease type 4
Definition: A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "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)
Mfn2 ISOMFN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathyPMID:15549395 PMID:16437557 PMID:16762064 PMID:16835246 PMID:17444508 PMID:18996695 PMID:20008656 PMID:20301684 PMID:20350294 PMID:20587496 PMID:21508331 PMID:21707411 PMID:22206013 PMID:22492563 PMID:22762946 PMID:24604904 PMID:24819634 PMID:25448007 PMID:25741868 PMID:25802885 PMID:26085578 PMID:26467025 PMID:27549087 PMID:28063088 PMID:28492532 PMID:29898954 PMID:31673878 PMID:32376792
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