@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc
> .
@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:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_head
{
this:
np:hasAssertion
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_assertion
;
np:hasProvenance
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_provenance
;
np:hasPublicationInfo
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_assertion
a
np:Assertion
.
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_provenance
a
np:Provenance
.
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_assertion
{
miriam-gene:8912
a
ncit:C16612
.
lld:C0014548
a
ncit:C7057
.
dgn-gda:DGN4ccbb436018a970576ffc1c024db48c6
sio:SIO_000628
miriam-gene:8912
,
lld:C0014548
;
a
sio:SIO_001121
.
}
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_provenance
{
dgn-np:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_assertion
dcterms:description
"[This isoform is also of particular interest because mutations in its gene (CACNA1H) that enhance channel activity have been associated with idiopathic generalized epilepsies, whereas mutations that disrupt its activity have been associated with autism spectrum disorders.]. 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:19903827
;
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:NP797451.RAK2SPHfXxKljcu88doYVVdFTlsUxYcqyn3WcAoew-CCc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:09+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" .
}