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- source_evidence_literature type ECO_0000212 NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_assertion description "[An SNP, Arg72Pro, of the TP53 gene encoding a DNA damage response protein showed the strongest association with squamous cell carcinoma risk (OR Pro/Pro vs. Arg/Arg = 2.2), while 2 other SNPs, Phe257Ser of the REV gene encoding a translesion DNA polymerase and Ile658Val of the LIG4 gene encoding a DNA double-strand break repair protein, also showed associations (OR Ser/Ser vs. Phe/Phe = 2.0 and OR Ile/Val vs. Ile/Ile = 0.4, respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_assertion evidence source_evidence_literature NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_assertion SIO_000772 15609317 NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_assertion wasDerivedFrom befree-2016 NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_assertion wasGeneratedBy ECO_0000203 NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.
- befree-2016 importedOn "2016-02-19" NP473546.RAtITIC4kHzJro7ydaiHHJZrniEPwPJRDbifv5mFN_nk4130_provenance.