http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#head http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#provenance http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://rdf.disgenet.org/resource/gda/DGNbc88a867f001a53977d318b89fa9c119 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3643 http://rdf.disgenet.org/resource/gda/DGNbc88a867f001a53977d318b89fa9c119 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020456 http://rdf.disgenet.org/resource/gda/DGNbc88a867f001a53977d318b89fa9c119 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#provenance http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18411068 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/dc/terms/created 2017-10-17T13:13:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP597423.RAQzQpCqZnM2KM4H5RvoKfhN4aEorwGoKgZB-Lrk7j3Uk http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0