@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio
> .
@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:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_head
{
this:
np:hasAssertion
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_assertion
;
np:hasProvenance
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_provenance
;
np:hasPublicationInfo
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_assertion
a
np:Assertion
.
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_provenance
a
np:Provenance
.
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_assertion
{
miriam-gene:5629
a
ncit:C16612
.
lld:C0024291
a
ncit:C7057
.
dgn-gda:DGN3962cbe7d740f82c8999601b91b0f569
sio:SIO_000628
miriam-gene:5629
,
lld:C0024291
;
a
sio:SIO_001121
.
}
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_provenance
{
dgn-np:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_assertion
dcterms:description
"[We suggest that dysregulation of PROX1 gene expression due to separation from its conserved upstream elements is likely to have caused the heart defects observed in this patient, and that PROX1 should be considered as a potential candidate gene for other cases of HLH.]. 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:19471316
;
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:NP326034.RA4V23MRz4RfVLQbOyd2vvHZVm5zj9UE3tMfxSDm47cio130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:10+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" .
}