@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg> .
@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:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_head {
  this: np:hasAssertion dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_assertion;
    np:hasProvenance dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_provenance;
    np:hasPublicationInfo dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_assertion a np:Assertion .
  
  dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_provenance a np:Provenance .
  
  dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_assertion {
  miriam-gene:157680 a ncit:C16612 .
  
  lld:C0025362 a ncit:C7057 .
  
  dgn-gda:DGNae616ed448462873e1a17836735d3da1 sio:SIO_000628 miriam-gene:157680, lld:C0025362;
    a sio:SIO_001121 .
}

dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_provenance {
  dgn-np:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_assertion dcterms:description
      "[Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe myopia, progressive chorioretinal dystrophy, facial anomalies, slender limbs with narrow hands and feet, tapered fingers, short stature, kyphosis and/or scoliosis, pectus carinatum, joint hypermobility, pes calcaneovalgus, and, variably, truncal obesity.]. 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:18655112;
    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:NP848601.RABNVBaBSfcVakDsoJdMPdhwZjqYEY9Ep-Absf6HA_ngg130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:38+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" .
}