@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:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_head { this: np:hasAssertion dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion; np:hasProvenance dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance; np:hasPublicationInfo dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo; a np:Nanopublication . dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion a np:Assertion . dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance a np:Provenance . dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo a np:PublicationInfo . } dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion { miriam-gene:201163 a ncit:C16612 . lld:C0007134 a ncit:C7057 . dgn-gda:DGN5b3d8b2719429679fc5edf25137fff60 sio:SIO_000628 miriam-gene:201163, lld:C0007134; a sio:SIO_001121 . } dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance { dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion dcterms:description "[Germline mutation of the folliculin gene (BHD) at chromosome 17p11.2 is associated with the development of multiplex hamartomas of the hair follicles, chromophobe renal cell carcinomas (RCC) and renal oncocytomas (RO).]. 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:14961590; 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:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo { this: dcterms:created "2016-05-13T12:45:01+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" . }