@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s> .
@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 ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@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-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .
dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_head {
   this: np:hasAssertion dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_assertion ;
    np:hasProvenance dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_provenance ;
    np:hasPublicationInfo dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_assertion a np:Assertion .
  dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_provenance a np:Provenance .
  dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_assertion {
   miriam-gene:1282 a ncit:C16612 .
  lld:C0265221 a ncit:C7057 .
  dgn-gda:DGN8de424c8ad9bae37dd475b789c596c21 sio:SIO_000628 miriam-gene:1282 , lld:C0265221 ;
    a sio:SIO_001121 .
}
dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_provenance {
   dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_assertion dcterms:description "[Defects in the genes POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5 and COL4A1 and ISPD have been described as causal for several types of MDDG including WWS, but can only be confirmed in about 60-70% of the clinically diagnosed individuals.]. 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:24120487 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}
dgn-np:NP1118529.RAvjOY8inUCoEFxXWzyv_lL5PT7pkrECIPkHssEl4A4_s130_publicationInfo {
   this: dcterms:created "2016-05-13T12:50:13+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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}