@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY
> .
@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:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_head
{
this:
np:hasAssertion
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_assertion
;
np:hasProvenance
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_provenance
;
np:hasPublicationInfo
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_assertion
a
np:Assertion
.
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_provenance
a
np:Provenance
.
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_assertion
{
miriam-gene:1866
a
ncit:C16612
.
lld:C2930898
a
ncit:C7057
.
dgn-gda:DGN59927684e77748cdb9e45e9ae55f1178
sio:SIO_000628
miriam-gene:1866
,
lld:C2930898
;
a
sio:SIO_001121
.
}
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_provenance
{
dgn-np:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_assertion
dcterms:description
"[Adult-onset idiopathic focal dystonia affecting specific parts of the body, such as the eye (blepharospasm), neck (cervical dystonia), and hand (writer's cramp), is mostly associated with the DYT7 locus, which was originally mapped to chromosome 18p by genomewide linkage analysis in a large family showing autosomal dominant inheritance.]. 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:16541453
;
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:NP540637.RA34RVP0KjZDkVrJK7r0vRJ8q-jUxcTIX1Q-fWebWFWXY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:49+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" .
}