@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_head
{
this:
np:hasAssertion
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_assertion
;
np:hasProvenance
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_assertion
a
np:Assertion
.
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_provenance
a
np:Provenance
.
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_assertion
{
miriam-gene:7415
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGNe054c79d8e5a9d88a1eaca5040c7de94
sio:SIO_000628
miriam-gene:7415
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_provenance
{
dgn-np:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_assertion
dcterms:description
"[Dominant mutations in the valosin-containing protein (VCP) gene cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, and frontotemporal dementia.]. 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:25388089
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1236699.RAhkmVoeg7Srg7Ll7GT1-NhcLjhTOhlD3393Mcku38mi8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:06+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}