@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:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_head { this: np:hasAssertion dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_assertion; np:hasProvenance dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_provenance; np:hasPublicationInfo dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_publicationInfo; a np:Nanopublication . dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_assertion a np:Assertion . dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_provenance a np:Provenance . dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_publicationInfo a np:PublicationInfo . } dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_assertion { miriam-gene:5290 a ncit:C16612 . lld:C0265552 a ncit:C7057 . dgn-gda:DGN5c6b100016e71740d60c8179b01b65ca sio:SIO_000628 miriam-gene:5290, lld:C0265552; a sio:SIO_001121 . } dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_provenance { dgn-np:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_assertion dcterms:description "[Affected tissue from individuals with facial infiltrating lipomatosis contains PIK3CA mutations that have previously been reported in cancers and in affected tissue from other nonheritable, overgrowth disorders, including congenital lipomatous overgrowth, vascular, epidermal, and skeletal anomalies syndrome, Klippel-Trenaunay syndrome, hemimegalencephaly, fibroadipose overgrowth, and macrodactyly.]. 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:24374682; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP621523.RALHKGhQg6__guX-kRJiX2RO5y2tX9d6YQr3NT8PlAhLU130_publicationInfo { this: dcterms:created "2015-08-25T14:43:52+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }