@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8
> .
@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:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_head
{
this:
np:hasAssertion
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_assertion
;
np:hasProvenance
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_provenance
;
np:hasPublicationInfo
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_assertion
a
np:Assertion
.
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_provenance
a
np:Provenance
.
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_assertion
{
miriam-gene:5728
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGNd48db54c6055c3dcf26445fd293dd44d
sio:SIO_000628
miriam-gene:5728
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_provenance
{
dgn-np:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_assertion
dcterms:description
"[We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.]. 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:11496368
;
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:NP642619.RAA6N2hxqeUTOACqpzlxy7a3FzwP5c3UI7887NNt46Up8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:27+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" .
}