Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_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." NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_assertion evidence source_evidence_literature NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_assertion SIO_000772 18411068 NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_assertion wasDerivedFrom befree-2016 NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_assertion wasGeneratedBy ECO_0000203 NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.
- befree-2016 importedOn "2016-02-19" NP665722.RAtLTdWDvTZk7nfk57n8rDSuUfLC8m5IACyihcJYeXI7U130_provenance.