@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA> .
@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:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_head {
  this: np:hasAssertion dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion;
    np:hasProvenance dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance;
    np:hasPublicationInfo dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion a np:Assertion .
  
  dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance a np:Provenance .
  
  dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion {
  miriam-gene:25974 a ncit:C16612 .
  
  lld:C0042847 a ncit:C7057 .
  
  dgn-gda:DGN93bdd30d1e0cbc45e38d29c587ba5913 sio:SIO_000628 miriam-gene:25974, lld:C0042847;
    a sio:SIO_001121 .
}

dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance {
  dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion dcterms:description
      "[The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency.]. 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:25740848;
    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:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:21+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" .
}