@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU
> .
@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:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_head
{
this:
np:hasAssertion
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_assertion
;
np:hasProvenance
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_provenance
;
np:hasPublicationInfo
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_assertion
a
np:Assertion
.
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_provenance
a
np:Provenance
.
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_assertion
{
miriam-gene:2643
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGN73689cde95eb2472138976fe7a692eba
sio:SIO_000628
miriam-gene:2643
,
lld:C0393593
;
a
sio:SIO_001121
.
}
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_provenance
{
dgn-np:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_assertion
dcterms:description
"[Hereditary Progressive Dystonia with marked diurnal fluctuation (HPD) is an autosomally dominantly inherited dystonia which is characterized by marked diurnal fluctuation of symptoms and by marked and sustained response to levodopa associated with mutations in guanosine triphosphate cyclohydrolase (GCH-1) deficiency gene.]. 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:15959854
;
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:NP499873.RAU51YZRR788aii93rt0_fnqIvJ6uUoRLPIphDPqT3ebU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:31+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" .
}