@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs
> .
@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:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_head
{
this:
np:hasAssertion
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_assertion
;
np:hasProvenance
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_provenance
;
np:hasPublicationInfo
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_assertion
a
np:Assertion
.
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_provenance
a
np:Provenance
.
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_assertion
{
miriam-gene:3918
a
ncit:C16612
.
lld:C0024282
a
ncit:C7057
.
dgn-gda:DGNdec2e6462ec5b169e0c25ff3e28f8c3b
sio:SIO_000628
miriam-gene:3918
,
lld:C0024282
;
a
sio:SIO_001121
.
}
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_provenance
{
dgn-np:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_assertion
dcterms:description
"[Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection.]. 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:10442562
;
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:NP473385.RAVlj1Pv0On6PTx9gdsobVgDD7no7r76mvC8fVOV7-VRs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:43+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" .
}