@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8> .
@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:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_head {
  this: np:hasAssertion dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_assertion;
    np:hasProvenance dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_provenance;
    np:hasPublicationInfo dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_assertion a np:Assertion .
  
  dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_provenance a np:Provenance .
  
  dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_assertion {
  miriam-gene:6768 a ncit:C16612 .
  
  lld:C0020758 a ncit:C7057 .
  
  dgn-gda:DGNa5bd769b1712e7484bee111f664e2738 sio:SIO_000628 miriam-gene:6768, lld:C0020758;
    a sio:SIO_001121 .
}

dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_provenance {
  dgn-np:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_assertion dcterms:description
      "[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. 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:18445049;
    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:NP668461.RALqrepnFKjFhls9j6BasL7Gv08Stjts5_KyQ5-0a1Aw8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:48+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" .
}