@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:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_head { this: np:hasAssertion dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_assertion; np:hasProvenance dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_provenance; np:hasPublicationInfo dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_publicationInfo; a np:Nanopublication . dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_assertion a np:Assertion . dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_provenance a np:Provenance . dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_publicationInfo a np:PublicationInfo . } dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_assertion { miriam-gene:5476 a ncit:C16612 . lld:C0268226 a ncit:C7057 . dgn-gda:DGN41d2f0dce309ee4970e2208e34563921 sio:SIO_000628 miriam-gene:5476, lld:C0268226; a sio:SIO_001121 . } dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_provenance { dgn-np:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_assertion dcterms:description "[Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A.]. 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:16361247; 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:NP726470.RAqa1MfC3A-Gl5Utg95Im9aaFwMp4jWi9apguIPq3AHqI130_publicationInfo { this: dcterms:created "2014-10-02T12:39:21+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" . }