Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_assertion description "[In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_assertion evidence source_evidence_literature NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_assertion SIO_000772 15868462 NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_assertion wasDerivedFrom befree-2016 NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_assertion wasGeneratedBy ECO_0000203 NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.
- befree-2016 importedOn "2016-02-19" NP492920.RAHbbMfDVjiphOcSD6sH92egYNGHCUbjYqREt6pjZHFSA130_provenance.