@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE> .
@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:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_head {
   this: np:hasAssertion dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion ;
    np:hasProvenance dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance ;
    np:hasPublicationInfo dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion a np:Assertion .
  dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance a np:Provenance .
  dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion {
   miriam-gene:5979 a ncit:C16612 .
  lld:C0019569 a ncit:C7057 .
  dgn-gda:DGN664ef9af900b02f3422800e7ff5287f1 sio:SIO_000628 miriam-gene:5979 , lld:C0019569 ;
    a sio:SIO_001121 .
}
dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_provenance {
   dgn-np:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_assertion dcterms:description "[It has been shown that distinct germline mutations in the RET proto-oncogene are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as Hirschsprung disease (HSCR), a congenital disorder characterised by absent enteric innervation.]. 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:8570194 ;
    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:NP1346082.RA-HdlL8CCC9uBB_gA-ndks2Ts793tV3xpwGW_LchfyPE130_publicationInfo {
   this: dcterms:created "2016-05-13T12:51:56+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" .
}