@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok
> .
@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:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_head
{
this:
np:hasAssertion
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_assertion
;
np:hasProvenance
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_provenance
;
np:hasPublicationInfo
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_assertion
a
np:Assertion
.
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_provenance
a
np:Provenance
.
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_assertion
{
miriam-gene:7248
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNdd6e271e648a85b3a4c151b5bffb5f32
sio:SIO_000628
miriam-gene:7248
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_provenance
{
dgn-np:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_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:NP758650.RAdBwMPe8DFSVlICCfaiZ3WcmrQDbe_YWYNPHiDqthDok130_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" .
}