@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M
> .
@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:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_head
{
this:
np:hasAssertion
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_assertion
;
np:hasProvenance
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_provenance
;
np:hasPublicationInfo
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_assertion
a
np:Assertion
.
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_provenance
a
np:Provenance
.
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_assertion
{
miriam-gene:7248
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNf9e5c660f086f0deb9af2e86b78ea21f
sio:SIO_000628
miriam-gene:7248
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_provenance
{
dgn-np:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_assertion
dcterms:description
"[Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy.]. 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:19694899
;
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:NP300482.RAoDTTuSqow3bOWo2-ARxSsjBXCpTWWR5epLYTsorup7M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:50+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" .
}