@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE
> .
@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:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_head
{
this:
np:hasAssertion
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_assertion
;
np:hasProvenance
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_provenance
;
np:hasPublicationInfo
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_assertion
a
np:Assertion
.
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_provenance
a
np:Provenance
.
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C1959600
a
ncit:C7057
.
dgn-gda:DGN998db0bc939b77b0893946ad76dcbb0c
sio:SIO_000628
miriam-gene:1180
,
lld:C1959600
;
a
sio:SIO_001121
.
}
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_provenance
{
dgn-np:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_assertion
dcterms:description
"[Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. 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:7951242
;
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:NP393692.RA3H4f7tIYz3m9iO7jfXhFuRZRIOULbiXOY1fyYCGYZNE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:54+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" .
}