@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:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_head { this: np:hasAssertion dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_assertion; np:hasProvenance dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_provenance; np:hasPublicationInfo dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_publicationInfo; a np:Nanopublication . dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_assertion a np:Assertion . dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_provenance a np:Provenance . dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_publicationInfo a np:PublicationInfo . } dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_assertion { miriam-gene:2629 a ncit:C16612 . lld:C0017205 a ncit:C7057 . dgn-gda:DGNfa6a7dde565f16418c50f2645b4ccade sio:SIO_000628 miriam-gene:2629, lld:C0017205; a sio:SIO_001121 . } dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_provenance { dgn-np:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_assertion dcterms:description "[β-glucocerebrosidase, the enzyme deficient in Gaucher disease, also has an essential role in maintaining epidermal permeability function, by regulating the ratio of ceramides to glucosylceramides in the stratum corneum of the skin.]. 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:21982627; 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:NP929405.RAD0b99ZZSxPWeELnE9glECt0x5pxcINkqOFOglccMXYc130_publicationInfo { this: dcterms:created "2016-05-13T12:48:46+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" . }