@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg
> .
@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:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_head
{
this:
np:hasAssertion
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_assertion
;
np:hasProvenance
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_provenance
;
np:hasPublicationInfo
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_assertion
a
np:Assertion
.
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_provenance
a
np:Provenance
.
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_assertion
{
miriam-gene:103
a
ncit:C16612
.
lld:C0406775
a
ncit:C7057
.
dgn-gda:DGN77893248aab10dee86ca32286efdeeeb
sio:SIO_000628
miriam-gene:103
,
lld:C0406775
;
a
sio:SIO_001121
.
}
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_provenance
{
dgn-np:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_assertion
dcterms:description
"[Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms.]. 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:19017046
;
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:NP311412.RAedtYsIe8v9EEO-mDKj866noSw0a-jNuErTF09L7Yegg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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: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" .
}