@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y
> .
@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:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_head
{
this:
np:hasAssertion
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_assertion
;
np:hasProvenance
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_assertion
a
np:Assertion
.
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_provenance
a
np:Provenance
.
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_assertion
{
miriam-gene:1674
a
ncit:C16612
.
lld:C1832370
a
ncit:C7057
.
dgn-gda:DGN5b73b4fbf5350401cbec46ff7194520b
sio:SIO_000628
miriam-gene:1674
,
lld:C1832370
;
a
sio:SIO_001121
.
}
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_provenance
{
dgn-np:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_assertion
dcterms:description
"[Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin intermediate network in the muscle fibers.]. 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:16010068
;
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:NP187354.RAhlqoyqFB4Dr2Ejf5v0494-6y0pM5T0whD9CGu-Ssa0Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:43+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" .
}