@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:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_head { this: np:hasAssertion dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_assertion; np:hasProvenance dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_provenance; np:hasPublicationInfo dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_publicationInfo; a np:Nanopublication . dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_assertion a np:Assertion . dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_provenance a np:Provenance . dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_publicationInfo a np:PublicationInfo . } dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_assertion { miriam-gene:4292 a ncit:C16612 . lld:C1333990 a ncit:C7057 . dgn-gda:DGN1a18b3af1b79d885c7cca146da6d1cba sio:SIO_000628 miriam-gene:4292, lld:C1333990; a sio:SIO_001121 . } dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_provenance { dgn-np:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_assertion dcterms:description "[Examination of such familial clusters must take into consideration cancers of diverse anatomic sites, such as malignant melanoma in the familial atypical multiple melanoma (FAMMM) syndrome due to the CDKN2A (p16) germline mutation, and combinations of colorectal and endometrial carcinoma, ovarian carcinoma, and several other cancers in hereditary nonpolyposis colorectal cancer (HNPCC), which are due to mismatch repair germline mutations, the most common of which are MSH2 and MLH1 .]. 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:15516847; 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:NP466662.RAhN52IPBF7vc_wf2P9JI5OG_iDiS2BtfWtvWM8wSOP-g130_publicationInfo { this: dcterms:created "2016-05-13T12:45:16+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" . }