@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_head {
  this: np:hasAssertion dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_assertion;
    np:hasProvenance dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_provenance;
    np:hasPublicationInfo dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_assertion a np:Assertion .
  
  dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_provenance a np:Provenance .
  
  dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_assertion {
  miriam-gene:29954 a ncit:C16612 .
  
  lld:C0457133 a ncit:C7057 .
  
  dgn-gda:DGNc95bd48492cbb56d55889f0a6c7e1546 sio:SIO_000628 miriam-gene:29954, lld:C0457133;
    a sio:SIO_001121 .
}

dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_provenance {
  dgn-np:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_assertion dcterms:description
      "[While initially a clear correlation between gene defect and phenotype was observed for each of these 6 genes (for example, Walker Warburg syndrome was associated with mutations in POMT1 and POMT2, Fukuyama congenital muscular dystrophy associated with fukutin mutations, and Muscle Eye Brain disease associated with POMGnT1 mutations), we have recently demonstrated that allelic mutations in each of these 6 genes can result in a much wider spectrum of clinical conditions.]. 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:18646561;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP884257.RAcVnCfdp1rix496GIQICHN8FU5Twf-6auDH_scjZTpCI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:00+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}