@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:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_head { this: np:hasAssertion dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion; np:hasProvenance dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance; np:hasPublicationInfo dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo; a np:Nanopublication . dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion a np:Assertion . dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance a np:Provenance . dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion { miriam-gene:861 a ncit:C16612 . lld:C0005818 a ncit:C7057 . dgn-gda:DGN9169d07e6e941e189f6c8f912f3ddbeb sio:SIO_000628 miriam-gene:861, lld:C0005818; a sio:SIO_001121 . } dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance { dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion dcterms:description "[Two hereditary human leukemia syndromes are severe congenital neutropenia (SCN), caused by mutations in the gene ELA2, encoding the protease neutrophil elastase, and familial platelet disorder with acute myelogenous leukemia (AML), caused by mutations in the gene AML1, encoding the transcription factor core-binding factor alpha (CBFalpha).]. 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:14594802; 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:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo { this: dcterms:created "2014-10-02T12:36:11+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" . }