@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_head {
  this: np:hasAssertion dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion;
    np:hasProvenance dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance;
    np:hasPublicationInfo dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion a np:Assertion .
  
  dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance a np:Provenance .
  
  dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion {
  miriam-gene:9241 a ncit:C16612 .
  
  lld:C1861385 a ncit:C7057 .
  
  dgn-gda:DGNc68c0030d15cb81cc96b22cd5b6870ee sio:SIO_000628 miriam-gene:9241, lld:C1861385;
    a sio:SIO_001122 .
}

dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance {
  dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion dcterms:description
      "[In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. 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:17668388;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:00+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}