@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#> .
@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 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-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .
sub:head {
  this: np:hasAssertion sub:assertion ;
    np:hasProvenance sub:provenance ;
    np:hasPublicationInfo sub:publicationInfo ;
    a np:Nanopublication .
}
sub:assertion {
  dgn-gda:DGN9e8c2949d36d6e1c5fd7c3b8850ec3dd sio:SIO_000628 miriam-gene:4627 , lld:C2751260 ;
    a sio:SIO_001122 .
}
sub:provenance {
  sub:assertion dcterms:description "[To date, 31 mutations of the MYH9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid approximately 1400 are more likely associated with syndromic manifestations than the downstream mutations.]. 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:19408192 ;
    prov:wasDerivedFrom dgn-void:BEFREE ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}
sub:publicationInfo {
  this: dcterms:created "2017-10-17T13:14:54+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 "v5.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}