http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#head http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#provenance http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://rdf.disgenet.org/resource/gda/DGNc205150953f5bedbcb77aab82c97a650 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3767 http://rdf.disgenet.org/resource/gda/DGNc205150953f5bedbcb77aab82c97a650 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011847 http://rdf.disgenet.org/resource/gda/DGNc205150953f5bedbcb77aab82c97a650 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#provenance http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://purl.org/dc/terms/description [Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy. Identification of the genetic cause of permanent neonatal diabetes may fac]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#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/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15115830 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/GAD http://purl.org/pav/importedOn 2017-02-21 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/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/dc/terms/created 2017-10-17T13:14:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP616070.RAoZsQnG5L9FVuOw0mjMHddgHLgdHKsIKdKvpEeZTtkiM 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