@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg
> .
@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:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_head
{
this:
np:hasAssertion
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_assertion
;
np:hasProvenance
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_provenance
;
np:hasPublicationInfo
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_assertion
a
np:Assertion
.
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_provenance
a
np:Provenance
.
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_assertion
{
miriam-gene:2670
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGNc62c2d5539f7b5e165a17983c5e2deb5
sio:SIO_000628
miriam-gene:2670
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_provenance
{
dgn-np:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_assertion
dcterms:description
"[Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level.]. 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:22403400
;
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:NP826297.RAvR3Psosw3opc_v3rY_90QQ2yo8OGDPrumEhqNyHwuOg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:26+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" .
}