@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo
> .
@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/v3.0.0/void/
> .
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_head
{
this:
np:hasAssertion
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_assertion
;
np:hasProvenance
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_provenance
;
np:hasPublicationInfo
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_assertion
a
np:Assertion
.
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_provenance
a
np:Provenance
.
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0543874
a
ncit:C7057
.
dgn-gda:DGN4ac126ca1885a31d9fdf1444f1146c55
sio:SIO_000628
miriam-gene:54840
,
lld:C0543874
;
a
sio:SIO_001121
.
}
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_provenance
{
dgn-np:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_assertion
dcterms:description
"[Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal.]. 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:15164193
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP914797.RAlFrEkhhGpdXBKefVbJza6JX5rBO1h0iQhd5CzQ_KBYo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:58+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}