@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA> .
@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:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_head {
   this: np:hasAssertion dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_assertion ;
    np:hasProvenance dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_provenance ;
    np:hasPublicationInfo dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_assertion a np:Assertion .
  dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_provenance a np:Provenance .
  dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_assertion {
   miriam-gene:5251 a ncit:C16612 .
  lld:C3536984 a ncit:C7057 .
  dgn-gda:DGN8db33fd05b76e7f1e9514d681947c7ac sio:SIO_000628 miriam-gene:5251 , lld:C3536984 ;
    a sio:SIO_001121 .
}
dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_provenance {
   dgn-np:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_assertion dcterms:description "[A syndrome with a remarkably similar biochemical phenotype, namely, X-linked hypophosphatemic rickets (XLH), also has a circulating factor with properties similar, if not identical, to those of the tumor-derived factor, phosphatonin. The molecular defect in XLH has been shown to be due to a mutant endopeptidase, PHEX, whose substrate might be phosphatonin. Hypophosphatemia and other biochemical abnormalities in TIO are due to excessive production of phosphatonin with normal PHEX function, whereas the biochemical abnormalities in XLH are caused by a mutant PHEX enzyme that fails to process phosphatonin.]. 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:10962341 ;
    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:NP293466.RAvzX6sZWnb2tir6gGXAoKUM5Zn1VrAneTQIgP2N5vHzA130_publicationInfo {
   this: dcterms:created "2016-05-13T12:43:58+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" .
}