@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_head { this: np:hasAssertion dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion; np:hasProvenance dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance; np:hasPublicationInfo dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo; a np:Nanopublication . dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion a np:Assertion . dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance a np:Provenance . dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo a np:PublicationInfo . } dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion { miriam-gene:5979 a ncit:C16612 . lld:C1833921 a ncit:C7057 . dgn-gda:DGNdd8d14ce667ac2aa25fc1df994ecae1d sio:SIO_000628 miriam-gene:5979, lld:C1833921; a sio:SIO_001121 . } dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance { dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion dcterms:description "[Germline mutations affecting one of five cysteines (Cys609, 611, 618, 620 and 634) located in the juxtamembrane domain of the RET receptor are responsible for the vast majority of two cancer-prone disorders, multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC).]. 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:9879991; 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:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo { this: dcterms:created "2016-05-13T12:52:27+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }