http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_head http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://identifiers.org/ncbigene/3630 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0020459 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN7aea5efec8f2d167e10b285bfa62b3e4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3630 http://rdf.disgenet.org/resource/gda/DGN7aea5efec8f2d167e10b285bfa62b3e4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020459 http://rdf.disgenet.org/resource/gda/DGN7aea5efec8f2d167e10b285bfa62b3e4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://purl.org/dc/terms/description [Loss of function mutations in the KCNJ11 and ABCC8 genes that encode for Kir6.2 and SUR1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.Genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a K(ATP) channel mutation confirms a diagnosis of their disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18998097 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/dc/terms/created 2016-05-13T12:47:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP702624.RAcfFiwiZrls9UhoKEFt0sNN_iCyVqv8ZJsUJU4_Vxi5Q http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0