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GENE - TERM ANNOTATION REPORT

RGD ID: 1311509
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ercc6
Name: ERCC excision repair 6, chromatin remodeling factor
Acc ID: DOID:0112158
Term: De Sanctis-Cacchione syndrome
Definition: A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10767341/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2168777/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/28491977/ "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)
Ercc6 ISOERCC6 (Homo sapiens)7240710OMIM  
Ercc6 ISOERCC6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:10767341
Ercc6 ISOERCC6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROMEPMID:10196384 PMID:10767341 PMID:11809892 PMID:1339317 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18628313 PMID:18784753 PMID:19894250 PMID:20122405 PMID:20456449 PMID:21143350 PMID:21228398 PMID:22661500 PMID:22904069 PMID:23311583 PMID:23422418 PMID:23428416 PMID:24033266 PMID:24154677 PMID:25136123 PMID:25326635 PMID:25356239 PMID:25463447 PMID:25677497 PMID:25741868 PMID:25820262 PMID:26206375 PMID:26218421 PMID:26620705 PMID:27004399 PMID:27186691 PMID:27356891 PMID:28170084 PMID:28440418 PMID:28492532 PMID:29203878 PMID:29572252 PMID:29915382 PMID:30111349 PMID:31130284 PMID:31501894 PMID:32453336 PMID:32496904 PMID:32504035 PMID:32557569 PMID:32853555 PMID:33904453 PMID:34005834 PMID:34052969 PMID:38177409 PMID:7063265 PMID:887325 PMID:9150142 PMID:9443879 PMID:9536098
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