@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A
> .
@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:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_head
{
this:
np:hasAssertion
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_assertion
;
np:hasProvenance
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_provenance
;
np:hasPublicationInfo
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_assertion
a
np:Assertion
.
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_provenance
a
np:Provenance
.
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_assertion
{
miriam-gene:9968
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGN59a988faf409e8fe7dbc7cb831c3b551
sio:SIO_000628
miriam-gene:9968
,
lld:C0338508
;
a
sio:SIO_001121
.
}
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_provenance
{
dgn-np:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_assertion
dcterms:description
"[Heterozygous optic atrophy type1 (OPA1) mutations are responsible for dominant optic atrophy, and the down regulation of OPA1 expression in patients with Leber hereditary optic neuropathy may imply that Opa1 protein levels in mitochondria play a role in other spontaneous optic neuropathies as well.]. 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:21552501
;
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:NP892500.RAFuKvuCv6nS3DEb6BIR_8kizwvwg3khZ6KcJA3ftqb2A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:29+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" .
}