@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4
> .
@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:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_head
{
this:
np:hasAssertion
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_assertion
;
np:hasProvenance
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_provenance
;
np:hasPublicationInfo
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_assertion
a
np:Assertion
.
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_provenance
a
np:Provenance
.
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_assertion
{
miriam-gene:5160
a
ncit:C16612
.
lld:C0013421
a
ncit:C7057
.
dgn-gda:DGN3156fd3d912a9dd7a80e70aa03bee63d
sio:SIO_000628
miriam-gene:5160
,
lld:C0013421
;
a
sio:SIO_001121
.
}
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_provenance
{
dgn-np:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_assertion
dcterms:description
"[Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.]. 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:15473177
;
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:NP245444.RAt6h9vcgBgBn5Szv33Uo8K9qJ-PkmEVCDu8PNs-rjQR4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:17+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" .
}