@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:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_head { this: np:hasAssertion dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_assertion; np:hasProvenance dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_provenance; np:hasPublicationInfo dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_publicationInfo; a np:Nanopublication . dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_assertion a np:Assertion . dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_provenance a np:Provenance . dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_publicationInfo a np:PublicationInfo . } dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_assertion { miriam-gene:5728 a ncit:C16612 . lld:C0265326 a ncit:C7057 . dgn-gda:DGNce71b4417007d3e663f2be8511296e12 sio:SIO_000628 miriam-gene:5728, lld:C0265326; a sio:SIO_001122 . } dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_provenance { dgn-np:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_assertion dcterms:description "[Cowden's disease (CD) and Bannayan-Ruvalcaba-Riley syndrome (BRRS) are allelic disorders characterized by multiple hamartomatous overgrowths of the thyroid, breast, skin, and gastrointestinal tract, and an increased risk of developing benign and malignant tumors of the breast and thyroid gland, secondary to germline point mutations in the PTEN gene.]. 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:15067177; 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:NP438625.RAkSmPCW-i8805Mly0aokosaWCIxtN0Df-We_3aUI3U9c130_publicationInfo { this: dcterms:created "2016-05-13T12:45:04+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" . }