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- source_evidence_literature type ECO_0000212 NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_assertion description "[In humans, there are five RECQ helicase genes, and mutations in three of them-BLM, WRN, and RECQL4-are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_assertion evidence source_evidence_literature NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_assertion SIO_000772 24924172 NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_assertion wasDerivedFrom befree-2016 NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_assertion wasGeneratedBy ECO_0000203 NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.
- befree-2016 importedOn "2016-02-19" NP1191459.RA4ydXLJbZEKBPRSx5wwLkvhQcgfHzqIJQL6-ZTXzI2ag130_provenance.