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GENE - TERM ANNOTATION REPORT

RGD ID: 2323961
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cdrt4
Name: CMT1A duplicated region transcript 4
Acc ID: DOID:0060843
Term: hereditary neuropathy with liability to pressure palsies
Definition: A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12682341 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2540008 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8422677 "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)
Cdrt4 ISOCDRT4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Tomaculous neuropathyPMID:12439896 PMID:18698610 PMID:21670407 PMID:7825607 PMID:8422677 PMID:8541860
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