@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_head
{
this:
np:hasAssertion
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_assertion
;
np:hasProvenance
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_assertion
a
np:Assertion
.
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_provenance
a
np:Provenance
.
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_assertion
{
miriam-gene:1967
a
ncit:C16612
.
lld:C1858991
a
ncit:C7057
.
dgn-gda:DGN41d533cdf6912a0c105885b058a1bd65
sio:SIO_000628
miriam-gene:1967
,
lld:C1858991
;
a
sio:SIO_001122
.
}
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_provenance
{
dgn-np:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_assertion
dcterms:description
"[Leukoencephalopathy with vanishing white matter (VWM), also called childhood ataxia with central nervous system hypomyelination (CACH), is an autosomal recessive disease caused by mutations in any of the five genes encoding subunits of the eukaryotic translation initiation factor eIF2B.]. 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:16823698
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP558466.RAste0TPR_PY1D5W5o1BNbGih5dFr-sY89jOY8YLPsRJQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:58+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
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pav:version
"v4.0.0" .
}