@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY
> .
@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:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_head
{
this:
np:hasAssertion
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_assertion
;
np:hasProvenance
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_provenance
;
np:hasPublicationInfo
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_assertion
a
np:Assertion
.
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_provenance
a
np:Provenance
.
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_assertion
{
miriam-gene:26503
a
ncit:C16612
.
lld:C1096903
a
ncit:C7057
.
dgn-gda:DGN59d3a16b96cf4a41a297c3ffdd505682
sio:SIO_000628
miriam-gene:26503
,
lld:C1096903
;
a
sio:SIO_001121
.
}
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_provenance
{
dgn-np:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_assertion
dcterms:description
"[Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes.]. 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:16170568
;
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:NP833134.RAzRZDrTuwuffiGinLcPoGgSKfvQNo4VimFThboAU3fbY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:30+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" .
}