@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw> .
@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 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:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_head {
  this: np:hasAssertion dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion;
    np:hasProvenance dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance;
    np:hasPublicationInfo dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion a np:Assertion .
  
  dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance a np:Provenance .
  
  dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion {
  miriam-gene:3730 a ncit:C16612 .
  
  lld:C1563719 a ncit:C7057 .
  
  dgn-gda:DGNf359bbce99fb3d4f324daf6288f00305 sio:SIO_000628 miriam-gene:3730, lld:C1563719;
    a sio:SIO_001122 .
}

dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance {
  dgn-np:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion dc:description
      "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. 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:15001591;
    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:NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_publicationInfo {
  this: dc:created "2014-10-02T12:31:59+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: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" .
}