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GENE - TERM ANNOTATION REPORT

RGD ID: 10534
Species: Mus musculus
RGD Object: Gene
Symbol: Ercc5
Name: excision repair cross-complementing rodent repair deficiency, complementation group 5
Acc ID: DOID:0110849
Term: xeroderma pigmentosum group G
Definition: A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11841555 "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)
Ercc5 ISOERCC5 (Homo sapiens)7240710OMIM  
Ercc5 ISOERCC5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ercc5 ISOERCC5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Xeroderma pigmentosum, group GPMID:10026181 PMID:11219864 PMID:11841555 PMID:12060391 PMID:15082767 PMID:15682379 PMID:16550608 PMID:17466625 PMID:22821389 PMID:23255472 PMID:23370536 PMID:24033266 PMID:24354460 PMID:24700531 PMID:24728327 PMID:25714468 PMID:25741868 PMID:25741915 PMID:25795128 PMID:26149386 PMID:26580448 PMID:26884178 PMID:27104957 PMID:28492532 PMID:28654958 PMID:29641532 PMID:29891518 PMID:30086788 PMID:30306255 PMID:30919937 PMID:32522879 PMID:33219753 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355
Ercc5 IAGP 13592920MouseDOOMIM:278780 
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