@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g
> .
@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:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_head
{
this:
np:hasAssertion
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_assertion
;
np:hasProvenance
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_provenance
;
np:hasPublicationInfo
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_assertion
a
np:Assertion
.
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_provenance
a
np:Provenance
.
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_assertion
{
miriam-gene:2108
a
ncit:C16612
.
lld:C1865349
a
ncit:C7057
.
dgn-gda:DGN88720a8e8e38e9aad22e0f9dc6bc1bfe
sio:SIO_000628
miriam-gene:2108
,
lld:C1865349
;
a
sio:SIO_001121
.
}
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_provenance
{
dgn-np:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_assertion
dcterms:description
"[To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA).]. 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:16183799
;
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:NP633936.RAOEGNXgLfX1q2XJNGejTvv9BybMtxv1gmRQKnGp2IY0g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:22+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" .
}