@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ
> .
@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:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_head
{
this:
np:hasAssertion
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_assertion
;
np:hasProvenance
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_assertion
a
np:Assertion
.
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_provenance
a
np:Provenance
.
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C1533847
a
ncit:C7057
.
dgn-gda:DGNf9deee9a88b436dc53de3ac98eecb0c5
sio:SIO_000628
miriam-gene:6261
,
lld:C1533847
;
a
sio:SIO_001121
.
}
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_provenance
{
dgn-np:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_assertion
dcterms:description
"[Defects in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia (MH), an autosomal dominant disorder of skeletal muscle and one of the main causes of death resulting from anaesthesia.]. 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:9138151
;
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:NP860664.RA-YscwJPnySxTDnQmKrEi9mgblXzn4xns8EJKbD6SMIQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:46+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" .
}