Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_assertion description "[Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome (Leprechaunism), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_assertion evidence source_evidence_literature NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_assertion SIO_000772 18411068 NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_assertion wasDerivedFrom befree-2016 NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_assertion wasGeneratedBy ECO_0000203 NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.
- befree-2016 importedOn "2016-02-19" NP665723.RAa51hn1vjVE-0IMNIbBdGDao8XUwufcnCfHMWvZhGzxg130_provenance.