@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo> .
@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/v4.0.0/void/> .

dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_head {
  this: np:hasAssertion dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_assertion;
    np:hasProvenance dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_provenance;
    np:hasPublicationInfo dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_assertion a np:Assertion .
  
  dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_provenance a np:Provenance .
  
  dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_assertion {
  miriam-gene:5781 a ncit:C16612 .
  
  lld:C0175704 a ncit:C7057 .
  
  dgn-gda:DGN0c7efd5e2e6115c3e79867a45f8b1c14 sio:SIO_000628 miriam-gene:5781, lld:C0175704;
    a sio:SIO_001122 .
}

dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_provenance {
  dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_assertion dcterms:description
      "[We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple café au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12.]. 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:12058348;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    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-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP2078.RAppYcq2TDAFdjFVI0hw5NQV4E8kvfeGZQKDIp36fnBvo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}