@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4
> .
@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:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_head
{
this:
np:hasAssertion
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_assertion
;
np:hasProvenance
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_provenance
;
np:hasPublicationInfo
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_assertion
a
np:Assertion
.
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_provenance
a
np:Provenance
.
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_assertion
{
miriam-gene:424
a
ncit:C16612
.
lld:C0349788
a
ncit:C7057
.
dgn-gda:DGN3d19cd3143fbd45aaa801490cc5ea7b0
sio:SIO_000628
miriam-gene:424
,
lld:C0349788
;
a
sio:SIO_001121
.
}
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_provenance
{
dgn-np:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_assertion
dcterms:description
"[Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2).]. 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:15336972
;
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:NP715352.RAHiqNQQI3WNhiykowezso_jzZ7egNyWD7PxxBqa5Hjy4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:14+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" .
}