@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU
> .
@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:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_head
{
this:
np:hasAssertion
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_assertion
;
np:hasProvenance
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_provenance
;
np:hasPublicationInfo
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_assertion
a
np:Assertion
.
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_provenance
a
np:Provenance
.
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_assertion
{
miriam-gene:1861
a
ncit:C16612
.
lld:C1851945
a
ncit:C7057
.
dgn-gda:DGN68e5100f1fcca2917392343b0f528b4d
sio:SIO_000628
miriam-gene:1861
,
lld:C1851945
;
a
sio:SIO_001121
.
}
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_provenance
{
dgn-np:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_assertion
dcterms:description
"[Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the DYT1 gene on chromosome 9q34 at the heterozygote state.]. 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:14989804
;
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:NP433441.RAQ333v1e-5BEeYrLyvuSkgR4AKkoYGgGcOBBCia7InGU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:02+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" .
}