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GENE - TERM ANNOTATION REPORT

RGD ID: 1316157
Species: Mus musculus
RGD Object: Gene
Symbol: Ercc3
Name: excision repair cross-complementing rodent repair deficiency, complementation group 3
Acc ID: DOID:0110850
Term: xeroderma pigmentosum group B
Definition: A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16947863 "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)
Ercc3 ISOERCC3 (Homo sapiens)7240710OMIM  
Ercc3 ISOERCC3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ercc3 ISOERCC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Xeroderma pigmentosum group BPMID:16947863 PMID:2167179 PMID:24728327 PMID:25741868 PMID:26023681 PMID:26467025 PMID:26556299 PMID:26884178 PMID:27004399 PMID:27153395 PMID:27356891 PMID:27655433 PMID:28259476 PMID:28423363 PMID:28492532 PMID:28873162 PMID:29376097 PMID:29478780 PMID:29625052 PMID:30256826 PMID:30306255 PMID:30414346 PMID:30787465 PMID:31541171 PMID:31664448 PMID:31681265 PMID:31874108 PMID:32183364 PMID:32295625 PMID:32496904 PMID:33332384 PMID:34308104 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148
Ercc3 IAGP 13592920MouseDOOMIM:610651 
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