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GENE - TERM ANNOTATION REPORT

RGD ID: 12154847
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TEKT3
Name: tektin 3
Acc ID: DOID:0050540
Term: Charcot-Marie-Tooth disease type 3
Definition: A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease "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)
TEKT3 ISOTEKT3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndromePMID:12439896 PMID:18698610 PMID:21670407 PMID:7825607 PMID:8422677 PMID:8541860
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