Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_assertion description "[Background/Aims: Mutations in the HESX1 gene are associated with a broad spectrum of phenotypes: septo-optic dysplasia, midline defects, pituitary abnormalities with consequent hypopituitarism, isolated growth hormone (GH) deficiency or combined pituitary hormone deficiencies (CPHD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_assertion evidence source_evidence_literature NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_assertion SIO_000772 19844116 NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_assertion wasDerivedFrom befree-20140225 NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_assertion wasGeneratedBy ECO_0000203 NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP540182.RAshuMCdSOlJxHCZ3WNpvY-DJC8KzjHUnYkvK3-PVCqiw130_provenance.