@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40
> .
@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:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_head
{
this:
np:hasAssertion
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_assertion
;
np:hasProvenance
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_provenance
;
np:hasPublicationInfo
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_assertion
a
np:Assertion
.
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_provenance
a
np:Provenance
.
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_assertion
{
miriam-gene:2475
a
ncit:C16612
.
lld:C0011860
a
ncit:C7057
.
dgn-gda:DGNd37342345e6258b44be746e6971b0b87
sio:SIO_000628
miriam-gene:2475
,
lld:C0011860
;
a
sio:SIO_001121
.
}
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_provenance
{
dgn-np:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_assertion
dcterms:description
"[Mutations in several mTOR pathway component genes are known to cause specific monogenic human genetic diseases and this signalling cascade has been shown to be of relevance for Alzheimer's disease, type 2 diabetes, obesity and hypertrophy.]. 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:19286253
;
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:NP507216.RAcZb21fylW8636bkDKBQ9KwaVZZ97N3LNtFmooi1Pk40130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:02+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" .
}