@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA
> .
@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:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_head
{
this:
np:hasAssertion
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_assertion
;
np:hasProvenance
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_provenance
;
np:hasPublicationInfo
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_assertion
a
np:Assertion
.
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_provenance
a
np:Provenance
.
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0028738
a
ncit:C7057
.
dgn-gda:DGN1eddf46945b0833ad124dded6b408b21
sio:SIO_000628
miriam-gene:57216
,
lld:C0028738
;
a
sio:SIO_001121
.
}
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_provenance
{
dgn-np:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_assertion
dcterms:description
"[Thus, many of the hereditary or congenital pigmentary disorders of the skin are associated with similar pigmentary abnormalities in the eye, such as iris heterochromia or changes in pigmentation of the fundus; however, more commonly, the associated eye finding is a defect in ocular motility, i.e., strabismus and nystagmus, suggesting a concomitant defect in neurologic development.]. 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:1617818
;
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:NP404827.RAgwIYELQKglBeEShx2mJblZhhSeSpoM1Jq1qNY_BhmLA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:01+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" .
}