@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk
> .
@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:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_head
{
this:
np:hasAssertion
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_assertion
;
np:hasProvenance
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_provenance
;
np:hasPublicationInfo
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_assertion
a
np:Assertion
.
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_provenance
a
np:Provenance
.
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_assertion
{
miriam-gene:6687
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGNd8a2102e92048ae8a9b8fcd68d713cbd
sio:SIO_000628
miriam-gene:6687
,
lld:C0338508
;
a
sio:SIO_001121
.
}
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_provenance
{
dgn-np:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_assertion
dcterms:description
"[In addition, a missense mutation in exon 10 resulted in predominant optical nerve atrophy, which might suggest deleterious interactions of this SPG7 variant with its substrate OPA1, the mutated gene product in optic atrophy type 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:22964162
;
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:NP637099.RAI2_DdDYu-2QEa5zwIG1wxuxSsQxMW1_aUsBF-t4-mYk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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" .
}