@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:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_head { this: np:hasAssertion dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_assertion; np:hasProvenance dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_provenance; np:hasPublicationInfo dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_publicationInfo; a np:Nanopublication . dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_assertion a np:Assertion . dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_provenance a np:Provenance . dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_publicationInfo a np:PublicationInfo . } dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_assertion { miriam-gene:201163 a ncit:C16612 . lld:C0018552 a ncit:C7057 . dgn-gda:DGN4097d450e71bbf56c098b4bfa0c78e60 sio:SIO_000628 miriam-gene:201163, lld:C0018552; a sio:SIO_001121 . } dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_provenance { dgn-np:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_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-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:NP916311.RAr8s0A9LQEB_3GcNXe1c0u7ddpKd5fFNhi-_bGimU4_c130_publicationInfo { this: dcterms:created "2014-10-02T12:41:22+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }