@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:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_head { this: np:hasAssertion dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_assertion; np:hasProvenance dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_provenance; np:hasPublicationInfo dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_publicationInfo; a np:Nanopublication . dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_assertion a np:Assertion . dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_provenance a np:Provenance . dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_publicationInfo a np:PublicationInfo . } dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0022336 a ncit:C7057 . dgn-gda:DGNe76e51fbd905e59863c815489e839c66 sio:SIO_000628 miriam-gene:1080, lld:C0022336; a sio:SIO_001121 . } dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_provenance { dgn-np:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_assertion dcterms:description "[The intragenic cis-interactions between the common polymorphisms and the pathogenic mutations of prion protein (PRNP) and cystic fibrosis transmembrane conductance regulator (CFTR) genes greatly influence the phenotypes and the disease penetrance of hereditary Creutzfeldt-Jakob disease and cystic fibrosis.]. 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:15829248; 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:NP489796.RAgFtKfW-18NbOEY1xHBZih3nrzi83cIBU9vbQm6wR6gU130_publicationInfo { this: dcterms:created "2016-05-13T12:45:27+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" . }