@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis
> .
@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:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_head
{
this:
np:hasAssertion
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion
;
np:hasProvenance
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance
;
np:hasPublicationInfo
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion
a
np:Assertion
.
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance
a
np:Provenance
.
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_assertion
{
miriam-gene:80025
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGN750ccd6441be9332ba1a00620f58c6d1
sio:SIO_000628
miriam-gene:80025
,
lld:C0393593
;
a
sio:SIO_001121
.
}
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_provenance
{
dgn-np:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_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-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:NP579342.RAk10vf5QvgaEbPrMy4kABWnX8OYg399sUfCDoB4QAgis130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:49+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: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" .
}