@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE
> .
@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:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_head
{
this:
np:hasAssertion
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_assertion
;
np:hasProvenance
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_provenance
;
np:hasPublicationInfo
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_assertion
a
np:Assertion
.
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_provenance
a
np:Provenance
.
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_assertion
{
miriam-gene:4942
a
ncit:C16612
.
lld:C1285162
a
ncit:C7057
.
dgn-gda:DGN3987e697d83734e612d9df7e2fa08a51
sio:SIO_000628
miriam-gene:4942
,
lld:C1285162
;
a
sio:SIO_001121
.
}
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_provenance
{
dgn-np:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_assertion
dcterms:description
"[A generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenerative disease of the choroid and retina of the eye that leads to blindness.]. 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:2793865
;
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:NP269968.RARM5Za2SFZM05A73oOitsYj8uVs_nStb3iMls4JkgajE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:30+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" .
}