@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo
> .
@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:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_head
{
this:
np:hasAssertion
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_assertion
;
np:hasProvenance
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_provenance
;
np:hasPublicationInfo
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_assertion
a
np:Assertion
.
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_provenance
a
np:Provenance
.
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_assertion
{
miriam-gene:25836
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN75ccd2dbc0d20dc59f322ac95f53e161
sio:SIO_000628
miriam-gene:25836
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_provenance
{
dgn-np:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_assertion
dcterms:description
"[Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.]. 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:23085304
;
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:NP636743.RAG4WZzgyb34uwNRFAgl2DRh5_4S_VlcIXMJhENPhNMxo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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" .
}