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GENE - TERM ANNOTATION REPORT

RGD ID: 1307139
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ercc3
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
Acc ID: DOID:0111869
Term: photosensitive trichothiodystrophy 2
Definition: A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/9012405/ "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)13207496RGDDNA:missense mutation:cds:p.T119P (human) 
Ercc3 ISOERCC3 (Homo sapiens)7240710OMIM  
Ercc3 ISOERCC3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Ercc3 ISOERCC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitivePMID:16947863 PMID:24728327 PMID:25741868 PMID:26556299 PMID:27153395 PMID:27356891 PMID:28259476 PMID:28423363 PMID:28492532 PMID:29625052 PMID:30306255 PMID:30414346 PMID:31664448 PMID:31874108 PMID:32183364 PMID:32295625 PMID:32496904 PMID:9012405
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