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GENE - TERM ANNOTATION REPORT

RGD ID: 1359454
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sdhc
Name: succinate dehydrogenase complex subunit C
Acc ID: DOID:0110200
Term: Charcot-Marie-Tooth disease dominant intermediate D
Definition: A Charcot-Marie-Tooth disease intermediate type 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/10406984 "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)
Sdhc ISOSDHC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate DPMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892
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