@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ
> .
@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:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_head
{
this:
np:hasAssertion
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_assertion
;
np:hasProvenance
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_assertion
a
np:Assertion
.
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_provenance
a
np:Provenance
.
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_assertion
{
miriam-gene:6329
a
ncit:C16612
.
lld:C0221055
a
ncit:C7057
.
dgn-gda:DGNc68fa8347d29a198e2b4aa08d058986c
sio:SIO_000628
miriam-gene:6329
,
lld:C0221055
;
a
sio:SIO_001121
.
}
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_provenance
{
dgn-np:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_assertion
dcterms:description
"[Hyperkalaemic periodic paralysis, paramyotonia congenita and a small heterogeneous group of related 'pure' myotonias are autosomal dominant disorders and are due to at least 16 different mutations in the SCN4A (SkM1) adult skeletal muscle sodium channel gene on chromosome 17q23-25.]. 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:7735894
;
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:NP229044.RABEfSdL3eeU1Hzl0UY8lfZCeMtS1hDmDjHhN6YZ6PONQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:08+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" .
}