@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI
> .
@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:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_head
{
this:
np:hasAssertion
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion
;
np:hasProvenance
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion
a
np:Assertion
.
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance
a
np:Provenance
.
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0751951
a
ncit:C7057
.
dgn-gda:DGN85ea95525ab8089108bb52cf26ae3d97
sio:SIO_000628
miriam-gene:6261
,
lld:C0751951
;
a
sio:SIO_001121
.
}
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_provenance
{
dgn-np:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_assertion
dcterms:description
"[Malignant hyperthermia (MH), Central Core Disease (CCD), Exertional/environmental Heat Stroke (EHS) and Multiminicore disease (MmD) are inherited disorders of calcium homeostasis in skeletal muscles directly related to mutations of genes coding for proteins of the CRU, primarily ryanodine receptor (RYR1).]. 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:25424378
;
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:NP1240066.RAroiW0_h323cVeb2722lDlZg9fgtMpts1YDmDrZW4uUI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:08+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" .
}