@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM
> .
@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:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_head
{
this:
np:hasAssertion
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_assertion
;
np:hasProvenance
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_provenance
;
np:hasPublicationInfo
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_assertion
a
np:Assertion
.
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_provenance
a
np:Provenance
.
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_assertion
{
miriam-gene:3630
a
ncit:C16612
.
lld:C1306341
a
ncit:C7057
.
dgn-gda:DGNf8b0cebde50862962ff543dafeaa1e2f
sio:SIO_000628
miriam-gene:3630
,
lld:C1306341
;
a
sio:SIO_001121
.
}
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_provenance
{
dgn-np:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_assertion
dcterms:description
"[The disorder, characterized by myotonia, muscle wasting and weakness, cataract, insulin resistance, and mental impairment, is caused by the expansion of an unstable CTG repeat located in the 3' untranslated region of DMPK.]. 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:11978764
;
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:NP304382.RACdE7g6AivbsXglUnb4i2-T2NtN6ZOsdp5iuLRLbe8TM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:55+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" .
}