@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:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_head { this: np:hasAssertion dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_assertion; np:hasProvenance dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_provenance; np:hasPublicationInfo dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_publicationInfo; a np:Nanopublication . dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_assertion a np:Assertion . dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_provenance a np:Provenance . dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_publicationInfo a np:PublicationInfo . } dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_assertion { miriam-gene:4688 a ncit:C16612 . lld:C0018203 a ncit:C7057 . dgn-gda:DGN9b688d3d32407e99ecd21761779bd593 sio:SIO_000628 miriam-gene:4688, lld:C0018203; a sio:SIO_001121 . } dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_provenance { dgn-np:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_assertion dcterms:description "[X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively.]. 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:16937026; 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:NP194096.RALqJFOqHAxWcfFlrYBXu-YYUtratJAkFxFGXKOtGVjjo130_publicationInfo { this: dcterms:created "2014-10-02T12:33:47+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" . }