@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:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_head { this: np:hasAssertion dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_assertion; np:hasProvenance dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_provenance; np:hasPublicationInfo dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_publicationInfo; a np:Nanopublication . dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_assertion a np:Assertion . dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_provenance a np:Provenance . dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_publicationInfo a np:PublicationInfo . } dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_assertion { miriam-gene:1028 a ncit:C16612 . lld:C0019247 a ncit:C7057 . dgn-gda:DGN83d46aeef2d1c8a7b8561825701a661f sio:SIO_000628 miriam-gene:1028, lld:C0019247; a sio:SIO_001121 . } dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_provenance { dgn-np:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_assertion dcterms:description "[Several lines of evidence support this hypothesis: (a) we have discovered a novel genetic alteration in cancer, loss of imprinting, which affects several of these genes, and is one of the most common genetic changes in human cancer; (b) we have found that the hereditary disorder Beckwith-Wiedemann syndrome, which predisposes to cancer and causes prenatal overgrowth, involves alterations in p57KIP2, IGF-II, H19, and KvLQT1; (c) we have found both genetic (somatic mutation in Wilms' tumor) and epigenetic alterations (DNA methylation) in cancer; and (d) we can partially reverse abnormal imprinting using an inhibitor of DNA methylation.]. 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:10197590; 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:NP843937.RAedCZt_pTSCiplZH2eyjfAecPvzcl_4o7neNZXy2MpXc130_publicationInfo { this: dcterms:created "2014-10-02T12:40:36+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" . }