@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM
> .
@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:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_head
{
this:
np:hasAssertion
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_assertion
;
np:hasProvenance
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_provenance
;
np:hasPublicationInfo
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_assertion
a
np:Assertion
.
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_provenance
a
np:Provenance
.
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_assertion
{
miriam-gene:6331
a
ncit:C16612
.
lld:C0018790
a
ncit:C7057
.
dgn-gda:DGNf3f6d2c4897ef0c7898bc13369ec4bf0
sio:SIO_000628
miriam-gene:6331
,
lld:C0018790
;
a
sio:SIO_001121
.
}
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_provenance
{
dgn-np:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_assertion
dcterms:description
"[Heterozygous SCN5A mutations have been associated with varied arrhythmia phenotypes; phenotype severity may range from asymptomatic electrocardiographic changes (mild phenotype) to symptomatic arrhythmias resulting in syncope, cardiac arrest, and sudden cardiac death (severe phenotype) even among family members carrying the same mutation.]. 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:22370247
;
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:NP722618.RAEgzXwjHxIZpO865lwevWrofakjEKn1EAKamIxRzkOEM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:18+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" .
}