@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGN5ecdb4cc2edc375f6e7cb82068833dbb sio:SIO_000628 miriam-gene:3552 , lld:C0002986 ; a sio:SIO_001122 . } sub:provenance { sub:assertion dcterms:description "[The majority of patients with Fabry disease have therefore a profile of low TNF-alpha (increased frequency of GG genotype of the TNF-alpha-308 polymorphism), high IL-10 production (preponderance of the C allele of the wild type or heterozygous state for the polymorphisms of IL-10 819; -592, but simultaneously increased production of the pro-inflammatory cytokines IL-1beta and IL-1alpha usually associated with a preponderance of the C allele of the wild type or heterozygous state for the polymorphisms of IL-1beta 3954; -511 and of IL-1 alpha-889.]. 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:17353161 ; prov:wasDerivedFrom dgn-void:GAD ; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:GAD pav:importedOn "2017-02-21"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:13:43+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }