@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU
> .
@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:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_head
{
this:
np:hasAssertion
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion
;
np:hasProvenance
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion
a
np:Assertion
.
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance
a
np:Provenance
.
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0016719
a
ncit:C7057
.
dgn-gda:DGN5b6e6ce4a5fad31bacc2bbf9cfe3bc25
sio:SIO_000628
miriam-gene:2548
,
lld:C0016719
;
a
sio:SIO_001121
.
}
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_provenance
{
dgn-np:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_assertion
dcterms:description
"[Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene.]. 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:9331900
;
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:NP1382094.RA6f3Lrnk6oAwhRX6v7Gr6Z23NF0SlgHr0OuF0BTzyWXU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:12+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" .
}