@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo
> .
@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:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_head
{
this:
np:hasAssertion
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_assertion
;
np:hasProvenance
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_provenance
;
np:hasPublicationInfo
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_assertion
a
np:Assertion
.
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_provenance
a
np:Provenance
.
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_assertion
{
miriam-gene:5009
a
ncit:C16612
.
lld:C0013264
a
ncit:C7057
.
dgn-gda:DGNcba7743619e4e2d26e6b847a3e68616e
sio:SIO_000628
miriam-gene:5009
,
lld:C0013264
;
a
sio:SIO_001121
.
}
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_provenance
{
dgn-np:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_assertion
dcterms:description
"[MLS is an X-linked multi-system disorder caused by absence of XK alone, or when the disorder is caused by large deletions, it may be accompanied with Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CYBB), retinitis pigmentosa (RPGR), and ornithine transcarbamylase deficiency (OTC).]. 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:17300882
;
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:NP444392.RAZDb3ehR4MMl5zh4LWgnKQKpPNXs4QIXcPX5ZaoJt7Xo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:25+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" .
}