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GENE - TERM ANNOTATION REPORT

RGD ID: 1560340
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ercc4
Name: ERCC excision repair 4, endonuclease catalytic subunit
Acc ID: DOID:0050427
Term: xeroderma pigmentosum
Definition: A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)
Definition Source(s): http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract "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)
Ercc4 ISOERCC4 (Homo sapiens)1601093RGDDNA:deletion, point mutation:2281delTCTC, p.R788W 
Ercc4 ISOERCC4 (Homo sapiens)7246919RGD  
Ercc4 ISOERCC4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Xeroderma pigmentosumPMID:15159313 PMID:15886521 PMID:16199547 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:27607234 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:31692161 PMID:32008151 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35477182 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660
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