@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk
> .
@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:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_head
{
this:
np:hasAssertion
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_assertion
;
np:hasProvenance
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_provenance
;
np:hasPublicationInfo
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_assertion
a
np:Assertion
.
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_provenance
a
np:Provenance
.
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_assertion
{
miriam-gene:8398
a
ncit:C16612
.
lld:C2931845
a
ncit:C7057
.
dgn-gda:DGNfc53dc91d6d18235d615cce43123fd9c
sio:SIO_000628
miriam-gene:8398
,
lld:C2931845
;
a
sio:SIO_001121
.
}
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_provenance
{
dgn-np:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_assertion
dcterms:description
"[PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurodegeneration with brain iron accumulation (type 2).]. 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:18570303
;
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:NP441490.RA9KXat6tq40tjIOTMtgZFCBYkst1ZO2AGq4o30ZiAxIk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:21+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" .
}