@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE
> .
@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:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_head
{
this:
np:hasAssertion
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_assertion
;
np:hasProvenance
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_provenance
;
np:hasPublicationInfo
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_assertion
a
np:Assertion
.
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_provenance
a
np:Provenance
.
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_assertion
{
miriam-gene:2010
a
ncit:C16612
.
lld:C0741933
a
ncit:C7057
.
dgn-gda:DGN9160d8079529f26141d6d2ea5f9c0543
sio:SIO_000628
miriam-gene:2010
,
lld:C0741933
;
a
sio:SIO_001121
.
}
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_provenance
{
dgn-np:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_assertion
dcterms:description
"[Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.]. 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:17620497
;
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:NP923247.RAfQBvTdbqgGb--FeXrnpVel3ZtC6HdOzLhiY0PTNR2aE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:26+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" .
}