@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8
> .
@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:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_head
{
this:
np:hasAssertion
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_assertion
;
np:hasProvenance
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_provenance
;
np:hasPublicationInfo
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_assertion
a
np:Assertion
.
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_provenance
a
np:Provenance
.
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_assertion
{
miriam-gene:7389
a
ncit:C16612
.
lld:C0678236
a
ncit:C7057
.
dgn-gda:DGNd6ae4a8f04cfe65bf675e73634e3d957
sio:SIO_000628
miriam-gene:7389
,
lld:C0678236
;
a
sio:SIO_001121
.
}
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_provenance
{
dgn-np:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_assertion
dcterms:description
"[A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD.]. 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:9032642
;
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:NP643822.RAwbYZUVWBcZD0SR05yl9AoZaemLdXUP8_-cFuYhZ2lE8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}