@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP80867.RAEgqSxP-Y1CrOVUkTT-b5yVjSvXAF2Oi77k3BwfeTMYA#> .
@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:DGNdfc6ad2844fe44798b58c8c9332f15e0 sio:SIO_000628 miriam-gene:367 , lld:C0268301 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[In 12 patients the cause was clarified.Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antim�llerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
		wi:evidence dgn-void:source_evidence_curated ;
		sio:SIO_000772 miriam-pubmed:9329414 ;
		prov:wasDerivedFrom dgn-void:UNIPROT ;
		prov:wasGeneratedBy eco:ECO_0000218 .
	
	dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date .
	
	dgn-void:source_evidence_curated a eco:ECO_0000205 ;
		rdfs:comment "Gene-disease associations manually curated."@en ;
		rdfs:label "DisGeNET evidence - CURATED"@en .
}

sub:publicationInfo {
	this: dcterms:created "2017-10-17T13:10:42+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" .
}