@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_head
{
this:
np:hasAssertion
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_assertion
;
np:hasProvenance
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_provenance
;
np:hasPublicationInfo
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_assertion
a
np:Assertion
.
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_provenance
a
np:Provenance
.
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_assertion
{
miriam-gene:5189
a
ncit:C16612
.
lld:C0043459
a
ncit:C7057
.
dgn-gda:DGN1e343e1c25e2e61261688609821999c2
sio:SIO_000628
miriam-gene:5189
,
lld:C0043459
;
a
sio:SIO_001121
.
}
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_provenance
{
dgn-np:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_assertion
dcterms:description
"[Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients.]. 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:9671729
;
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:NP160811.RAKRPhJocM1Mh3le7CwSh9CDXkeiHEEKpRcvown9Wen48130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:27+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}