@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:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_head { this: np:hasAssertion dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion; np:hasProvenance dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance; np:hasPublicationInfo dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo; a np:Nanopublication . dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion a np:Assertion . dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance a np:Provenance . dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo a np:PublicationInfo . } dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion { miriam-gene:4619 a ncit:C16612 . lld:C0009376 a ncit:C7057 . dgn-gda:DGNb16097d52f29272a504ee3ddaeccd858 sio:SIO_000628 miriam-gene:4619, lld:C0009376; a sio:SIO_001122 . } dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_provenance { dgn-np:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_assertion dcterms:description "[ A large frequency of biallelic MYH mutations (69%) was found in APC mutation negative patients belonging to families with attenuated polyposis; the highest percentage was observed in families presenting evidence for horizontal transmission of the disease. The high percentage of degeneration found in these patients suggests that colonoscopy with polypectomies is not sufficient and prophylactic colectomy is recommended. The identification of MYH associated polyposis is important to evaluate the level of risk, particularly for the siblings.]. 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:15932553; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP54174.RA1X_kk8o7mID-q4z2SjSWBcH_D_CS4YExBQmFGvEVR-c130_publicationInfo { this: dcterms:created "2014-10-02T12:32:25+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" . }