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GENE - TERM ANNOTATION REPORT

RGD ID: 11700463
Species: Pan paniscus
RGD Object: Gene
Symbol: MED25
Name: mediator complex subunit 25
Acc ID: DOID:0110179
Term: Charcot-Marie-Tooth disease type 2B2
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19290556 "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)
MED25 ISOMED25 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2PMID:25488817 PMID:25741868 PMID:28492532 PMID:30039206 PMID:32324310 PMID:32371413 PMID:32376792 PMID:37091313
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