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GENE - TERM ANNOTATION REPORT

RGD ID: 11932054
Species: Pan paniscus
RGD Object: Gene
Symbol: DNAJB2
Name: DnaJ heat shock protein family (Hsp40) member B2
Acc ID: DOID:0110209
Term: Charcot-Marie-Tooth disease X-linked dominant 1
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8266101 "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)
DNAJB2 ISODNAJB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532
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