@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk> .
@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:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_head {
  this: np:hasAssertion dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion;
    np:hasProvenance dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance;
    np:hasPublicationInfo dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion a np:Assertion .
  
  dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance a np:Provenance .
  
  dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion {
  miriam-gene:1605 a ncit:C16612 .
  
  lld:C2827469 a ncit:C7057 .
  
  dgn-gda:DGN99205820734ef801a26b10db970b4560 sio:SIO_000628 miriam-gene:1605, lld:C2827469;
    a sio:SIO_001121 .
}

dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_provenance {
  dgn-np:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_assertion dcterms:description
      "[CMD biochemical types include various abnormalities of alpha-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-alpha(2) and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders.]. 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:20425232;
    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:NP658083.RA2e8m7Mz5HmlXHCJD--_eC7CAehWhMai4mkB4K6XztSk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:36+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" .
}