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GENE - TERM ANNOTATION REPORT

RGD ID: 621608
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Egr2
Name: early growth response 2
Acc ID: DOID:0050538
Term: Charcot-Marie-Tooth disease type 1
Definition: A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (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)
Egr2 ISOEGR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:11734543 PMID:12471219 PMID:12525712 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20301384 PMID:20513111 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26204789 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27422849 PMID:27549087 PMID:28492532 PMID:30481651 PMID:30843326 PMID:30889162 PMID:31673878 PMID:31852952 PMID:31919945 PMID:32376792 PMID:32528171 PMID:32896048 PMID:34169998 PMID:37091313 PMID:9537424
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