@prefix dct: .
@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 np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_head {
this: np:hasAssertion dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_assertion;
np:hasProvenance dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_provenance;
np:hasPublicationInfo dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_publicationInfo;
a np:Nanopublication .
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_assertion a np:Assertion .
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_provenance a np:Provenance .
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_assertion {
miriam-gene:3423 a ncit:C16612 .
lld:C0026705 a ncit:C7057 .
dgn-gda:DGNedb7e0ac6b4f6d7a13641cfbc698b79a sio:SIO_000628 miriam-gene:3423, lld:C0026705;
a sio:SIO_001122 .
}
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_provenance {
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_assertion dct:description
"[Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:16699754;
prov:wasDerivedFrom dgn-void:uniprot-2016;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP4526.RAE1a1Ep2XGEEjlnMjy-iNwo1s-Vrha9PpMgbbVZBadOg130_publicationInfo {
this: dct:created "2016-05-13T12:41:52+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct: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" .
}