@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:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_head { this: np:hasAssertion dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion; np:hasProvenance dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance; np:hasPublicationInfo dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo; a np:Nanopublication . dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion a np:Assertion . dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance a np:Provenance . dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo a np:PublicationInfo . } dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion { miriam-gene:4360 a ncit:C16612 . lld:C0376545 a ncit:C7057 . dgn-gda:DGN85bcf0402528e9420c27cac189941883 sio:SIO_000628 miriam-gene:4360, lld:C0376545; a sio:SIO_001121 . } dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance { dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion dcterms:description "[Heterozygous germ-line mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous MMR gene mutations children are diagnosed at an early age with de novo neurofibromatosis type 1 (NF1) and/or hematological malignancies.]. 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:15139004; 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:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo { this: dcterms:created "2014-10-02T12:35:59+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" . }