@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg
> .
@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:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_head
{
this:
np:hasAssertion
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion
;
np:hasProvenance
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance
;
np:hasPublicationInfo
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion
a
np:Assertion
.
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance
a
np:Provenance
.
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion
{
miriam-gene:118460
a
ncit:C16612
.
lld:C0271093
a
ncit:C7057
.
dgn-gda:DGN469ef28ad29a8949d20a61a9cc60de68
sio:SIO_000628
miriam-gene:118460
,
lld:C0271093
;
a
sio:SIO_001121
.
}
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_provenance
{
dgn-np:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_assertion
dcterms:description
"[Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively.]. 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:8014971
;
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:NP677540.RAD0rVOse6aNcikCadH2gi0W8FFdG6-xekGZY0L9Os_wg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:49+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" .
}