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GENE - TERM ANNOTATION REPORT

RGD ID: 732037
Species: Mus musculus
RGD Object: Gene
Symbol: Surf1
Name: surfeit gene 1
Acc ID: DOID:0110187
Term: Charcot-Marie-Tooth disease type 4K
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24027061 "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)
Surf1 ISOSURF1 (Homo sapiens)7240710OMIM  
Surf1 ISOSURF1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Surf1 ISOSURF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4KPMID:10443880 PMID:12026244 PMID:12515039 PMID:12943968 PMID:16326995 PMID:16542579 PMID:19780766 PMID:22488715 PMID:23829769 PMID:24027061 PMID:24262866 PMID:24462369 PMID:25741868 PMID:27896082 PMID:28492532 PMID:29933018 PMID:32445240
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