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GENE - TERM ANNOTATION REPORT

RGD ID: 1319264
Species: Homo sapiens
RGD Object: Gene
Symbol: ERCC2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Acc ID: DOID:0060655
Term: autosomal recessive congenital ichthyosis
Definition: An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "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)
ERCC2 IAGP 1601069RGDtrichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P 
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