@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g
> .
@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:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_head
{
this:
np:hasAssertion
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_assertion
;
np:hasProvenance
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_provenance
;
np:hasPublicationInfo
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_assertion
a
np:Assertion
.
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_provenance
a
np:Provenance
.
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_assertion
{
miriam-gene:2395
a
ncit:C16612
.
lld:C1883552
a
ncit:C7057
.
dgn-gda:DGN41df184a190f648c629f302f34734f7f
sio:SIO_000628
miriam-gene:2395
,
lld:C1883552
;
a
sio:SIO_001121
.
}
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_provenance
{
dgn-np:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_assertion
dcterms:description
"[Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an early onset (usually before the age of 25), progressive ataxia, sensory loss, absence of tendon reflexes and pyramidal weakness of the legs.]. 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:11586299
;
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:NP510808.RAcq7DjLhfKYnJTBzU_bIEIBa7ma4MuuY8qJJU77BnO2g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:04+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" .
}