@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg
> .
@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:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_head
{
this:
np:hasAssertion
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion
;
np:hasProvenance
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion
a
np:Assertion
.
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance
a
np:Provenance
.
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion
{
miriam-gene:2055
a
ncit:C16612
.
lld:C1838570
a
ncit:C7057
.
dgn-gda:DGN28b5658935fa9a9be7faf9b2dcf5bbf6
sio:SIO_000628
miriam-gene:2055
,
lld:C1838570
;
a
sio:SIO_001122
.
}
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance
{
dgn-np:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion
dcterms: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:NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:58+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" .
}