@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk
> .
@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:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_head
{
this:
np:hasAssertion
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_assertion
;
np:hasProvenance
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_provenance
;
np:hasPublicationInfo
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_assertion
a
np:Assertion
.
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_provenance
a
np:Provenance
.
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_assertion
{
miriam-gene:7226
a
ncit:C16612
.
lld:C0270853
a
ncit:C7057
.
dgn-gda:DGN5a3213896c782f30a1622b3dd9f8ada9
sio:SIO_000628
miriam-gene:7226
,
lld:C0270853
;
a
sio:SIO_001121
.
}
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_provenance
{
dgn-np:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_assertion
dcterms:description
"[These results reveal a positive regulatory action of EFHC1 on TRPM2 activity, suggesting that TRPM2 contributes to the expression of JME phenotypes by mediating disruptive effects of JME mutations of EFHC1 on biological processes including cell death.]. 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:22226147
;
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:NP230866.RAXk8kcupBIxd0p0_QWa7vM1TcwJX0IAXXqO-FOwoE-Mk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:09+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" .
}