@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0
> .
@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:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_head
{
this:
np:hasAssertion
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_assertion
;
np:hasProvenance
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_provenance
;
np:hasPublicationInfo
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_assertion
a
np:Assertion
.
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_provenance
a
np:Provenance
.
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_assertion
{
miriam-gene:6331
a
ncit:C16612
.
lld:C1720983
a
ncit:C7057
.
dgn-gda:DGNeb609beddcf580b15ce670e664c41e73
sio:SIO_000628
miriam-gene:6331
,
lld:C1720983
;
a
sio:SIO_001121
.
}
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_provenance
{
dgn-np:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_assertion
dcterms:description
"[Mutations in sodium channel alpha-subunit gene (SCN5A) result in multiple arrhythmic syndromes, including long QT3 (LQT3), Brugada syndrome (BS), an inherited cardiac conduction defect, sudden unexpected nocturnal death syndrome (SUNDS) and sudden infant death syndrome (SIDS), constituting a spectrum of disease entities termed Na+ channelopathies.]. 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:14753626
;
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:NP252890.RAP2u9Hmtc3V62NOvzBOpM99fO0qH4uksbzkmTz_Muig0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:21+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" .
}