@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE
> .
@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:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_head
{
this:
np:hasAssertion
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_assertion
;
np:hasProvenance
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_provenance
;
np:hasPublicationInfo
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_assertion
a
np:Assertion
.
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_provenance
a
np:Provenance
.
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_assertion
{
miriam-gene:4976
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGN0b0cf9db9591e86ee511eed2a745efcc
sio:SIO_000628
miriam-gene:4976
,
lld:C0338508
;
a
sio:SIO_001122
.
}
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_provenance
{
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_assertion
dcterms:description
"[Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:19325939
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4666.RAM-61SA4kCjpDtNfZ5mUzQCBp2ugH6JDYMVvPjLBKkHE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}