@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk
> .
@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:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_head
{
this:
np:hasAssertion
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_assertion
;
np:hasProvenance
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_provenance
;
np:hasPublicationInfo
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_assertion
a
np:Assertion
.
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_provenance
a
np:Provenance
.
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_assertion
{
miriam-gene:2110
a
ncit:C16612
.
lld:C0025517
a
ncit:C7057
.
dgn-gda:DGN8b37efa35c1228fa924392097493658c
sio:SIO_000628
miriam-gene:2110
,
lld:C0025517
;
a
sio:SIO_001121
.
}
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_provenance
{
dgn-np:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_assertion
dcterms:description
"[In humans, deficiency of ETF or ETFDH leads to glutaric acidemia type II, an inherited metabolic disorder that can be fatal in its neonatal form and is characterized by severe hypoketotic hypoglycemia and acidosis.]. 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:8617498
;
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:NP677677.RAmzkKmLH3GmAxLeW-B8pcM8h5-X0BQO6YEkd_Lp1kxkk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:49+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" .
}