@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc
> .
@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:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_head
{
this:
np:hasAssertion
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion
;
np:hasProvenance
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance
;
np:hasPublicationInfo
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion
a
np:Assertion
.
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance
a
np:Provenance
.
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C0700323
a
ncit:C7057
.
dgn-gda:DGNf8130d1cbacd7f82bb39a5372e3daadd
sio:SIO_000628
miriam-gene:1180
,
lld:C0700323
;
a
sio:SIO_001121
.
}
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_provenance
{
dgn-np:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_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:NP258454.RAlAPR2CNC6iRJPhlg_nbu2rsQ9K85ejxn_3QutoAH2Rc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:24+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" .
}