@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw> .
@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/v3.0.0/void/> .
dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_head {
   this: np:hasAssertion dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_assertion ;
    np:hasProvenance dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_provenance ;
    np:hasPublicationInfo dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_assertion a np:Assertion .
  dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_provenance a np:Provenance .
  dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_assertion {
   miriam-gene:3892 a ncit:C16612 .
  lld:C0432306 a ncit:C7057 .
  dgn-gda:DGN4776c4dc5c25cce0f8a7675a8a2026fe sio:SIO_000628 miriam-gene:3892 , lld:C0432306 ;
    a sio:SIO_001121 .
}
dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_provenance {
   dgn-np:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_assertion dcterms:description "[These include ichthyosis bullosa of Siemens (K2e), epidermolytic palmoplantar keratoderma (K1, K9), pachyonychia congenita (K6a, K6b, K16, K17), white sponge nevus (K4, K13), Meesmann's corneal dystrophy (K3, K12), cryptogenic cirrhosis (K8, K18) and monilethrix (hHb6, hHb1).In general, these disorders are inherited as autosomal dominant traits and the mutations act in a dominant-negative manner.]. 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:12688839 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP529820.RAkSxIYWRrRDWqzhsrLWNRCHj87dhcXFdjKLPzNvIV6mw130_publicationInfo {
   this: dcterms:created "2015-08-25T14:42:53+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}