@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_head
{
this:
np:hasAssertion
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_assertion
;
np:hasProvenance
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_provenance
;
np:hasPublicationInfo
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_assertion
a
np:Assertion
.
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_provenance
a
np:Provenance
.
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_assertion
{
miriam-gene:7248
a
ncit:C16612
.
lld:C0041341
a
ncit:C7057
.
dgn-gda:DGNf9cc86baa5dac7bfa602b4297804f80c
sio:SIO_000628
miriam-gene:7248
,
lld:C0041341
;
a
sio:SIO_001121
.
}
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_provenance
{
dgn-np:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP758653.RA1kspi6dzGIugr9afwSHNn5uX8y1AziEwk7zPJIldGGs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:29+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}