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- source_evidence_literature type ECO_0000212 NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_assertion description "[CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphomannose isomerase, EC 5.3.1.8), due to mutations in the MPI gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_assertion evidence source_evidence_literature NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_assertion SIO_000772 10980531 NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_assertion wasDerivedFrom befree-2016 NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_assertion wasGeneratedBy ECO_0000203 NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.
- befree-2016 importedOn "2016-02-19" NP294565.RAqkYm_tqTnNm3XG75AgWDsjOQpVWJJAC1G0xJ7yniVoU130_provenance.