@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP307857.RAw8V03aZAr__UlK23Wnoqd_aIoDObgP0pmj0NCfMRumM> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP307857.RAw8V03aZAr__UlK23Wnoqd_aIoDObgP0pmj0NCfMRumM#> .
@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:DGNaeb5aac55b1ade1a53c82800701d6d04 sio:SIO_000628 miriam-gene:1896 , lld:C0003028 ;
		a sio:SIO_001122 .
}

sub:provenance {
	sub:assertion dcterms:description "[Among 26 different EDA genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product.]. 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:21357618 ;
		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 "2017-10-17T13:12:08+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" .
}