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- source_evidence_literature type ECO_0000212 NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_assertion description "[Since Hey2 is one of the few Notch target genes, it is also conceivable that HEY2 mutations may account for cases of Alagille syndrome (AGS: variable combinations of heart, skeleton, eye, and facial malformations and cholestasis), in which the typical mutations of the Notch ligand JAG1 cannot be found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_assertion evidence source_evidence_literature NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_assertion SIO_000772 15389319 NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_assertion wasDerivedFrom befree-2016 NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_assertion wasGeneratedBy ECO_0000203 NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.
- befree-2016 importedOn "2016-02-19" NP461553.RAr3aFlcjQlgtPa798kUnwIMe-36J7eK99MyTVBA-b8H8130_provenance.