@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc
> .
@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:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_head
{
this:
np:hasAssertion
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_assertion
;
np:hasProvenance
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_provenance
;
np:hasPublicationInfo
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_assertion
a
np:Assertion
.
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_provenance
a
np:Provenance
.
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_assertion
{
miriam-gene:23250
a
ncit:C16612
.
lld:C0043459
a
ncit:C7057
.
dgn-gda:DGNced6ce40735b8dec33063df258f004f9
sio:SIO_000628
miriam-gene:23250
,
lld:C0043459
;
a
sio:SIO_001121
.
}
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_provenance
{
dgn-np:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_assertion
dcterms:description
"[The PEX1 gene, which encodes a cytoplasmic AAA ATPase, is the responsible gene in more than half of the Zellweger syndrome spectrum patients, and mutations in PEX1 can account for the full spectrum of phenotypes seen in these 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:10480353
;
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:NP651497.RAjUDo48b7Ev3e9a7pPKTF4Cu2k9F6mN1JITcnA6WNzgc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:32+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" .
}