@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns> .
@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:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_head {
  this: np:hasAssertion dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_assertion;
    np:hasProvenance dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_provenance;
    np:hasPublicationInfo dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_assertion a np:Assertion .
  
  dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_provenance a np:Provenance .
  
  dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_assertion {
  miriam-gene:79152 a ncit:C16612 .
  
  lld:C1823105 a ncit:C7057 .
  
  dgn-gda:DGNfc213ae916b33fd12760a09e4298a92c sio:SIO_000628 miriam-gene:79152, lld:C1823105;
    a sio:SIO_001122 .
}

dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_provenance {
  dgn-np:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_assertion dc:description
      "[Analogous to what has been reported previously for PLA2G6, the phenotypic spectrum of FA2H mutations is diverse based on our findings and those of prior investigators, because FA2H mutations have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial leukodystrophy.]. 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:20853438;
    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:NP2156.RALHTsxv-ipLE63JzMoctsTys-jtosx5M31kIy7Z_lRns130_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" .
}