@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M> .
@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:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_head {
  this: np:hasAssertion dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion;
    np:hasProvenance dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance;
    np:hasPublicationInfo dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion a np:Assertion .
  
  dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance a np:Provenance .
  
  dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion {
  miriam-gene:2592 a ncit:C16612 .
  
  lld:C0268151 a ncit:C7057 .
  
  dgn-gda:DGNe552b5aa220887a138c8d6a3484949f6 sio:SIO_000628 miriam-gene:2592, lld:C0268151;
    a sio:SIO_001122 .
}

dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance {
  dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion dcterms:description
      "[Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT.]. 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:1610789;
    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:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:59+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 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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}