@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk
> .
@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:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_head
{
this:
np:hasAssertion
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_assertion
;
np:hasProvenance
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_provenance
;
np:hasPublicationInfo
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_assertion
a
np:Assertion
.
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_provenance
a
np:Provenance
.
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_assertion
{
miriam-gene:8912
a
ncit:C16612
.
lld:C0014553
a
ncit:C7057
.
dgn-gda:DGNeaa87d3717e58c2dafb5cb3f38ef474a
sio:SIO_000628
miriam-gene:8912
,
lld:C0014553
;
a
sio:SIO_001121
.
}
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_provenance
{
dgn-np:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_assertion
dcterms:description
"[CACNA1H is a human gene encoding Ca(v)3.2 low-voltage-activated, T-type calcium channels associated with bursting behavior in neurons and has been linked to more than 30 mutations apparently predisposing to childhood absence epilepsy (CAE) and other idiopathic generalized epilepsies (IGEs).]. 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:16565161
;
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:NP208686.RA9yn7zhSglKEQuL4xnFNrynLXezi2aC_jLukNqsyjbCk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:55+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" .
}