@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI> .
@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 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:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_head {
  this: np:hasAssertion dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_assertion ;
    np:hasProvenance dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_provenance ;
    np:hasPublicationInfo dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_assertion a np:Assertion .
  dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_provenance a np:Provenance .
  dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_assertion {
  miriam-gene:3849 a ncit:C16612 .
  lld:C0432306 a ncit:C7057 .
  dgn-gda:DGN4d0c7c2e56710d29b4eb3346b9a20e92 sio:SIO_000628 miriam-gene:3849 , lld:C0432306 ;
    a sio:SIO_001122 .
}
dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_provenance {
  dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_assertion dc:description "[In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:15949009 ;
    prov:wasDerivedFrom dgn-void:uniprot-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP2399.RA2v1SRSfhp0WAP6U5uGH1GdIqDI2Ctzf6i2sQ3F0j4yI130_publicationInfo {
  this: dc:created "2015-08-25T14:37:43+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}