@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA> .
@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:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_head {
  this: np:hasAssertion dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion;
    np:hasProvenance dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance;
    np:hasPublicationInfo dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion a np:Assertion .
  
  dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance a np:Provenance .
  
  dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion {
  miriam-gene:3892 a ncit:C16612 .
  
  lld:C0546966 a ncit:C7057 .
  
  dgn-gda:DGNe4fc7ae9fbe838cd9401f95f59be37a5 sio:SIO_000628 miriam-gene:3892, lld:C0546966;
    a sio:SIO_001122 .
}

dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance {
  dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion dcterms:description
      "[Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu 410 Asp) in the helix termination motif of the type II hair keratin hHb6 have recently been identified in monilethrix patients of two unrelated families.]. 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:9402962;
    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:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:42+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 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" .
}