@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI
> .
@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 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:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_head
{
this:
np:hasAssertion
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion
;
np:hasProvenance
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion
a
np:Assertion
.
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance
a
np:Provenance
.
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion
{
miriam-gene:2055
a
ncit:C16612
.
lld:C1864923
a
ncit:C7057
.
dgn-gda:DGN99d5c165eb8d651df0d1c23b83307653
sio:SIO_000628
miriam-gene:2055
,
lld:C1864923
;
a
sio:SIO_001122
.
}
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_provenance
{
dgn-np:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_assertion
dc:description
"[Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. 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:21990111
;
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:NP1220.RAFLtIEVDFriGmxt3cf-Fk4P-oU1UIZ061fHQnF0f1jZI130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:58+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}