@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:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_head { this: np:hasAssertion dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_assertion; np:hasProvenance dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_provenance; np:hasPublicationInfo dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_publicationInfo; a np:Nanopublication . dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_assertion a np:Assertion . dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_provenance a np:Provenance . dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_publicationInfo a np:PublicationInfo . } dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_assertion { miriam-gene:5629 a ncit:C16612 . lld:C0018798 a ncit:C7057 . dgn-gda:DGN39dc8e982d6e9b7468714d8b62e1c0a8 sio:SIO_000628 miriam-gene:5629, lld:C0018798; a sio:SIO_001121 . } dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_provenance { dgn-np:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_assertion dcterms:description "[We suggest that dysregulation of PROX1 gene expression due to separation from its conserved upstream elements is likely to have caused the heart defects observed in this patient, and that PROX1 should be considered as a potential candidate gene for other cases of HLH.]. 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:19471316; 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:NP741193.RAt04Gv2jZKN11ktLZV1kFAn6hdey9eb1LwRf_S4_3oow130_publicationInfo { this: dcterms:created "2016-05-13T12:47:21+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" . }