@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0
> .
@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:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_head
{
this:
np:hasAssertion
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_assertion
;
np:hasProvenance
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_provenance
;
np:hasPublicationInfo
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_assertion
a
np:Assertion
.
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_provenance
a
np:Provenance
.
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_assertion
{
miriam-gene:2395
a
ncit:C16612
.
lld:C1285162
a
ncit:C7057
.
dgn-gda:DGN5487b8e02f9803ce978e9715c57c8de9
sio:SIO_000628
miriam-gene:2395
,
lld:C1285162
;
a
sio:SIO_001121
.
}
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_provenance
{
dgn-np:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_assertion
dcterms:description
"[Friedreich's ataxia (FRDA), the autosomal recessive degenerative disorder of nervous and muscles tissue, is caused by the massive expansion of (GAA) repeats that occur in the first intron of Frataxin gene X25 on chromosome 9q13-q21.1.]. 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:22750988
;
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:NP675611.RAsQQbAHT2oASklLzhqS_cs-UgL4QbXr2E6jAOm1U0zF0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:48+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" .
}