@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP616149.RAXn-jkw6FZYYquBdd_Omd_6CuK8t4Iw2WjaY6Yuka9II> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP616149.RAXn-jkw6FZYYquBdd_Omd_6CuK8t4Iw2WjaY6Yuka9II#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .

sub:head {
	this: np:hasAssertion sub:assertion ;
		np:hasProvenance sub:provenance ;
		np:hasPublicationInfo sub:publicationInfo ;
		a np:Nanopublication .
}

sub:assertion {
	dgn-gda:DGNae4f13b1109f7cf71ca3ee44e21247d8 sio:SIO_000628 miriam-gene:3767 , lld:C0011849 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms: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."@en ;
		wi:evidence dgn-void:source_evidence_literature ;
		sio:SIO_000772 miriam-pubmed:18998097 ;
		prov:wasDerivedFrom dgn-void:BEFREE ;
		prov:wasGeneratedBy eco:ECO_0000203 .
	
	dgn-void:BEFREE pav:importedOn "2017-02-19"^^xsd:date .
	
	dgn-void:source_evidence_literature a eco:ECO_0000212 ;
		rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
		rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

sub:publicationInfo {
	this: dcterms:created "2017-10-17T13:14:06+02:00"^^xsd:dateTime ;
		dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
		dcterms:rightsHolder dgn-void:IBIGroup ;
		dcterms:subject sio:SIO_000983 ;
		prv:usedData dgn-void:disgenetv3.0rdf ;
		pav:authoredBy <http://orcid.org/0000-0001-5999-6269> , <http://orcid.org/0000-0002-7534-7661> , <http://orcid.org/0000-0002-9383-528X> , <http://orcid.org/0000-0003-0169-8159> , <http://orcid.org/0000-0003-1244-7654> ;
		pav:createdBy <http://orcid.org/0000-0003-0169-8159> ;
		pav:version "v5.0.0.0" .
	
	dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}