@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_head {
   this: np:hasAssertion dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_assertion ;
    np:hasProvenance dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_provenance ;
    np:hasPublicationInfo dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_assertion a np:Assertion .
  dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_provenance a np:Provenance .
  dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_assertion {
   miriam-gene:57216 a ncit:C16612 .
  lld:C0080178 a ncit:C7057 .
  dgn-gda:DGNa579836f12c96f7f47225143d71c38f9 sio:SIO_000628 miriam-gene:57216 , lld:C0080178 ;
    a sio:SIO_001121 .
}
dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_provenance {
   dgn-np:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_assertion dcterms:description "[The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism.]. 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:11693783 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP651985.RA7qlNPsN9hsAUV5aOm7poerc_2wfNOV5EpRvjLMBeh78130_publicationInfo {
   this: dcterms:created "2014-10-02T12:38:33+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 <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" .
}