@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo
> .
@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:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_head
{
this:
np:hasAssertion
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_assertion
;
np:hasProvenance
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_provenance
;
np:hasPublicationInfo
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_assertion
a
np:Assertion
.
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_provenance
a
np:Provenance
.
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_assertion
{
miriam-gene:9852
a
ncit:C16612
.
lld:C0751778
a
ncit:C7057
.
dgn-gda:DGNf3dd2e1d73dacff5adff4bd3d986b17c
sio:SIO_000628
miriam-gene:9852
,
lld:C0751778
;
a
sio:SIO_001121
.
}
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_provenance
{
dgn-np:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_assertion
dcterms:description
"[We have identified an interacting partner protein (encoded by the human EPM2AIP1 gene (approved symbol)) for laforin, the product of the EPM2A gene, which is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy.]. 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:12782127
;
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:NP502424.RAzXboXc0bOSUvD5befhM7uSIp06pL11moOtihbw6Epfo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:59+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" .
}