@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:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_head { this: np:hasAssertion dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion; np:hasProvenance dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance; np:hasPublicationInfo dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo; a np:Nanopublication . dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion a np:Assertion . dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance a np:Provenance . dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo a np:PublicationInfo . } dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion { miriam-gene:3988 a ncit:C16612 . lld:C0043208 a ncit:C7057 . dgn-gda:DGNe7b412b2521f38b81bb52ded1296506c sio:SIO_000628 miriam-gene:3988, lld:C0043208; a sio:SIO_001121 . } dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_provenance { dgn-np:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_assertion dcterms:description "[Wolman Disease (WD) and cholesteryl ester storage disease (CESD) represent two distinct phenotypes of the same recessive disorder caused by the complete or partial deficiency of lysosomal acidic lipase (LAL), 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:22227072; 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:NP354867.RAULj1k8UUQbB17L3mBgMsXCwhGAucSW_yPj2b2TxPdus130_publicationInfo { this: dcterms:created "2014-10-02T12:35:28+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" . }