Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_assertion description "[Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_assertion evidence source_evidence_literature NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_assertion SIO_000772 21932603 NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_assertion wasDerivedFrom befree-20140225 NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_assertion wasGeneratedBy ECO_0000203 NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP269162.RACXDPX8z35s-9FeNwWKXafQqchA6zFwWOWkgGFl67ugk130_provenance.