@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU
> .
@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:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_head
{
this:
np:hasAssertion
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_assertion
;
np:hasProvenance
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_provenance
;
np:hasPublicationInfo
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_assertion
a
np:Assertion
.
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_provenance
a
np:Provenance
.
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_assertion
{
miriam-gene:4287
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN257eebaf19510e9d97b26d46b91e1735
sio:SIO_000628
miriam-gene:4287
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_provenance
{
dgn-np:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_assertion
dcterms:description
"[This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia).]. 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:10935859
;
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:NP291533.RACEDUOkYG7I1JOHsBM8Jr8aZTSteva_sHeopQZQRnNtU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:58+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" .
}