@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs
> .
@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:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_head
{
this:
np:hasAssertion
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_assertion
;
np:hasProvenance
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_provenance
;
np:hasPublicationInfo
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_assertion
a
np:Assertion
.
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_provenance
a
np:Provenance
.
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0007194
a
ncit:C7057
.
dgn-gda:DGNc76bfaba9a7fcc62a6380572c23f6a7d
sio:SIO_000628
miriam-gene:2548
,
lld:C0007194
;
a
sio:SIO_001121
.
}
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_provenance
{
dgn-np:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_assertion
dcterms:description
"[In conclusion, the size of the GAA repeat on the smaller allele in the frataxin gene is associated with the degree of left ventricular hypertrophy in patients with Friedreich's ataxia but is not related to the severity of hypertrophic cardiomyopathy.]. 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:11269509
;
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:NP619031.RAxODOT3GMavEAmpHa9LM3XXr60-ks6UXlpFp8KeTkQKs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:14+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" .
}