@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU
> .
@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:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_head
{
this:
np:hasAssertion
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_assertion
;
np:hasProvenance
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_provenance
;
np:hasPublicationInfo
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_assertion
a
np:Assertion
.
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_provenance
a
np:Provenance
.
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_assertion
{
miriam-gene:131118
a
ncit:C16612
.
lld:C0018799
a
ncit:C7057
.
dgn-gda:DGN99532fade23493151de336d0fd71f4c6
sio:SIO_000628
miriam-gene:131118
,
lld:C0018799
;
a
sio:SIO_001121
.
}
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_provenance
{
dgn-np:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_assertion
dcterms:description
"[DNAJC19 deficiency causes a relatively specific finding in urinary organic acid analysis (methylglutaconic aciduria type V), which together with the clinical features of the ensuing cardiac disease, allows for effective screening before undertaking molecular genetic analysis.]. 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:22797137
;
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:NP270837.RAz9UMuz-3JLh2T2etV5d06VGGfcCZjIwTAVcLa8Yp0AU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:31+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" .
}