@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_head {
  this: np:hasAssertion dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_assertion;
    np:hasProvenance dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_provenance;
    np:hasPublicationInfo dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_assertion a np:Assertion .
  
  dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_provenance a np:Provenance .
  
  dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_assertion {
  miriam-gene:2643 a ncit:C16612 .
  
  lld:C0751435 a ncit:C7057 .
  
  dgn-gda:DGN92959e5d7edb1f3bc875710bcb24c0d6 sio:SIO_000628 miriam-gene:2643, lld:C0751435;
    a sio:SIO_001121 .
}

dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_provenance {
  dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_assertion dcterms:description
      "[The phenotypes of recessive GCH deficiency are severe and complex, such as hyperphenylalaninemia, muscle hypotonia, epilepsy, and fever episode, and may be caused by deficiencies of various neurotransmitters, including dopamine, norepinephrine, serotonin, and NO.]. 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:10321973;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}

dgn-np:NP252345.RApwe-MGSqDPXraZM3sIKOgTscM5BRld-4jX_RLqCRCPE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:40+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}