Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_assertion description "[Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_assertion evidence source_evidence_literature NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_assertion SIO_000772 23561846 NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_assertion wasDerivedFrom befree-2016 NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_assertion wasGeneratedBy ECO_0000203 NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1066912.RA2qzitmQpVOTWdRITxzBoLSA76YM2vA2F6WwMMJB3PN4130_provenance.