@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo
> .
@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:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_head
{
this:
np:hasAssertion
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_assertion
;
np:hasProvenance
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_provenance
;
np:hasPublicationInfo
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_assertion
a
np:Assertion
.
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_provenance
a
np:Provenance
.
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_assertion
{
miriam-gene:6329
a
ncit:C16612
.
lld:C0221170
a
ncit:C7057
.
dgn-gda:DGNe930226bba404efc267740a091b5be45
sio:SIO_000628
miriam-gene:6329
,
lld:C0221170
;
a
sio:SIO_001121
.
}
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_provenance
{
dgn-np:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_assertion
dcterms:description
"[Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes.]. 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:23417379
;
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:NP558889.RA4pqTRiPJrLKChunfPwxbLlKmXFQ61cXiOTEfuOVhAKo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:37+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" .
}