@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM
> .
@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:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_head
{
this:
np:hasAssertion
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_assertion
;
np:hasProvenance
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_assertion
a
np:Assertion
.
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_provenance
a
np:Provenance
.
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0016719
a
ncit:C7057
.
dgn-gda:DGNef3f6c87e172a06bb6389316cd325841
sio:SIO_000628
miriam-gene:2548
,
lld:C0016719
;
a
sio:SIO_001121
.
}
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_provenance
{
dgn-np:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_assertion
dcterms:description
"[Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein.]. 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:24705504
;
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:NP1170729.RAkF3xeWU4YCOPeoMTgiojvlyoPyrEzJeERbdxr1ArxaM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:36+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" .
}