@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo
> .
@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:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_head
{
this:
np:hasAssertion
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_assertion
;
np:hasProvenance
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_provenance
;
np:hasPublicationInfo
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_assertion
a
np:Assertion
.
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_provenance
a
np:Provenance
.
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_assertion
{
miriam-gene:80025
a
ncit:C16612
.
lld:C0018523
a
ncit:C7057
.
dgn-gda:DGN408d235c0039e202a0808dcd57003505
sio:SIO_000628
miriam-gene:80025
,
lld:C0018523
;
a
sio:SIO_001121
.
}
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_provenance
{
dgn-np:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_assertion
dcterms:description
"[Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive (AR) disorder characterized by motor symptoms as such as dystonia or parkinsonism, mental retardation, retinitis pigmentosa and iron accumulation in the brain.]. 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:16962235
;
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:NP568508.RA20ccKFY8-anA4pVr7TeChfEDteDcSD7j5E_1mqp1BEo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:02+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" .
}