@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY
> .
@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:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_head
{
this:
np:hasAssertion
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_assertion
;
np:hasProvenance
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_assertion
a
np:Assertion
.
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_provenance
a
np:Provenance
.
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0278134
a
ncit:C7057
.
dgn-gda:DGN8ea32af1e855c076220356a40e6a8a3b
sio:SIO_000628
miriam-gene:6261
,
lld:C0278134
;
a
sio:SIO_001121
.
}
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_provenance
{
dgn-np:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_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-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:NP1372266.RAFqmDaLHVV8R2_KWFzmBgFljLnk9Q2yTksTY4d2NckIY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:08+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" .
}