@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE> .
@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:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_head {
  this: np:hasAssertion dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_assertion;
    np:hasProvenance dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_provenance;
    np:hasPublicationInfo dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_assertion a np:Assertion .
  
  dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_provenance a np:Provenance .
  
  dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_assertion {
  miriam-gene:80144 a ncit:C16612 .
  
  lld:C1855425 a ncit:C7057 .
  
  dgn-gda:DGNdefe2e1c330321b5cfabcdc1f5323425 sio:SIO_000628 miriam-gene:80144, lld:C1855425;
    a sio:SIO_001121 .
}

dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_provenance {
  dgn-np:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_assertion dcterms:description
      "[We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related 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:16894541;
    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:NP604422.RApY-AMyokUd__3mEidj3aykY8TrLFo-SPju2pRwVK1SE130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:03+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" .
}