@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_head
{
this:
np:hasAssertion
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_assertion
;
np:hasProvenance
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_provenance
;
np:hasPublicationInfo
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_assertion
a
np:Assertion
.
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_provenance
a
np:Provenance
.
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C2936781
a
ncit:C7057
.
dgn-gda:DGN5e4fe2fa52c6eb2fe73f72b05f2143fc
sio:SIO_000628
miriam-gene:1180
,
lld:C2936781
;
a
sio:SIO_001121
.
}
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_provenance
{
dgn-np:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_assertion
dcterms:description
"[Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane.]. 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:22521272
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP976311.RAIVJy3LlDVd1FOKlBts0iT7I_iJODBQN4eIbooKahR2o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:07+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}