@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP905210.RAea5bkcBUq2u5eF-dZl_mRv8tyXf9xohgngA68Jwnztg> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP905210.RAea5bkcBUq2u5eF-dZl_mRv8tyXf9xohgngA68Jwnztg#> .
@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:DGN447be5dde5c1ec82479c047ea4f740da sio:SIO_000628 miriam-gene:5979 , lld:C0085758 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[The findings suggest that both RET and NTRK3 mutations acting together are necessary and sufficient for the appearance of the disease, and that the EDN3 mutation is acting as a phenotype-modifier factor in the context of this family, as two different HSCR phenotypes are seen among the affected members: a short segment form, and a total colonic aganglionosis.]. 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:19556619 ;
		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 "2017-10-17T13:15:57+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" .
}