@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo
> .
@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:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_head
{
this:
np:hasAssertion
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_assertion
;
np:hasProvenance
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_provenance
;
np:hasPublicationInfo
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_assertion
a
np:Assertion
.
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_provenance
a
np:Provenance
.
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_assertion
{
miriam-gene:28954
a
ncit:C16612
.
lld:C0795864
a
ncit:C7057
.
dgn-gda:DGN9e7adc63d908679480263f98cc7d1c67
sio:SIO_000628
miriam-gene:28954
,
lld:C0795864
;
a
sio:SIO_001121
.
}
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_provenance
{
dgn-np:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_assertion
dcterms:description
"[Although Smith-Magenis syndrome involves a deletion of proximal 17p, some of the clinical features of this mosaic trisomy 17 patient, such as decreased REM sleep and increased tolerance to pain, are suggestive of phenotypic features observed in Smith-Magenis syndrome.]. 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:8557263
;
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:NP309067.RAj6o2N5c_v9bsu_f1dQnCPBuMPEfZMcn56g0hYWDENbo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:57+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" .
}