@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs
> .
@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:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_head
{
this:
np:hasAssertion
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_assertion
;
np:hasProvenance
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_provenance
;
np:hasPublicationInfo
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_assertion
a
np:Assertion
.
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_provenance
a
np:Provenance
.
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_assertion
{
miriam-gene:54982
a
ncit:C16612
.
lld:C0022340
a
ncit:C7057
.
dgn-gda:DGNcfe01715f58ba13459d3906cb3ff8f0e
sio:SIO_000628
miriam-gene:54982
,
lld:C0022340
;
a
sio:SIO_001121
.
}
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_provenance
{
dgn-np:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_assertion
dcterms:description
"[Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes.]. 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:21359198
;
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:NP576549.RAY0VZ9kbRxYxd22Dwj0s6kBI15ZaE_4PvL-xVJo0Nghs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:47+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" .
}