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GENE - TERM ANNOTATION REPORT

RGD ID: 621750
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Drp2
Name: dystrophin related protein 2
Acc ID: DOID:0050542
Term: Charcot-Marie-Tooth disease type X
Definition: A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (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)
Drp2 ISODRP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type XPMID:23999528 PMID:25741868 PMID:26227883 PMID:29473052 PMID:31217940
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