@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY
> .
@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:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_head
{
this:
np:hasAssertion
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_assertion
;
np:hasProvenance
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_provenance
;
np:hasPublicationInfo
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_assertion
a
np:Assertion
.
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_provenance
a
np:Provenance
.
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_assertion
{
miriam-gene:5860
a
ncit:C16612
.
lld:C0848332
a
ncit:C7057
.
dgn-gda:DGN227960c614d18a72d79e026af6a5e765
sio:SIO_000628
miriam-gene:5860
,
lld:C0848332
;
a
sio:SIO_001121
.
}
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_provenance
{
dgn-np:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_assertion
dcterms:description
"[Diagnosis relies on the measurement of pterin metabolites in urine, dihydropteridine reductase in blood spots, neurotransmitters and pterins in the CSF and on the demonstration of reduced enzyme activity (red blood cells or fibroblasts) or causative mutations in the relative genes.]. 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:19234759
;
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:NP579079.RAn7NdrWXp0T7ZI66np-TTvLJl0uWYzrhALd-wSDfy1VY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:49+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" .
}