@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0
> .
@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:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_head
{
this:
np:hasAssertion
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion
;
np:hasProvenance
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance
;
np:hasPublicationInfo
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion
a
np:Assertion
.
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance
a
np:Provenance
.
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion
{
miriam-gene:51422
a
ncit:C16612
.
lld:C0149721
a
ncit:C7057
.
dgn-gda:DGNad98a37ddef262a39fe20f97ae156413
sio:SIO_000628
miriam-gene:51422
,
lld:C0149721
;
a
sio:SIO_001121
.
}
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance
{
dgn-np:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion
dcterms:description
"[Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.]. 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:15673802
;
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:NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:16+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" .
}