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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:0050539
Term: Charcot-Marie-Tooth disease type 2
Definition: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)
Definition Source(s): http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25098539 "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 disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa typePMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 PMID:25741868 PMID:26257172 PMID:28170084 PMID:28492532 PMID:30039206 PMID:30800049 PMID:31602195 PMID:32324310 PMID:32371413 PMID:32376792 PMID:37091313 PMID:9536098
MED25 ISOMED25 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa typePMID:16199547 PMID:17576681 PMID:25488817 PMID:25527630 PMID:25741868 PMID:26257172 PMID:28492532 PMID:30039206 PMID:30800049 PMID:9536098
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