@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww
> .
@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:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_head
{
this:
np:hasAssertion
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_assertion
;
np:hasProvenance
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_provenance
;
np:hasPublicationInfo
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_assertion
a
np:Assertion
.
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_provenance
a
np:Provenance
.
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0019569
a
ncit:C7057
.
dgn-gda:DGN17e05ab419c344765466d73be7923988
sio:SIO_000628
miriam-gene:4763
,
lld:C0019569
;
a
sio:SIO_001121
.
}
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_provenance
{
dgn-np:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_assertion
dcterms:description
"[Conditions associated with an increased risk of HD suggest some common inherited factor and include Down's syndrome, Waardenburg syndrome (WS), dominant sensorineural deafness, neurofibromatosis, neuroblastoma, phaechromocytoma, the MEN type 2B syndrome, and other abnormalities.]. 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:9718653
;
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:NP587960.RA9SKEeXxLKkxZRDsnixtwE5G36NUDF8seuoAj_tOqAww130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:54+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" .
}