@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8
> .
@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:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_head
{
this:
np:hasAssertion
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_assertion
;
np:hasProvenance
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_provenance
;
np:hasPublicationInfo
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_assertion
a
np:Assertion
.
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_provenance
a
np:Provenance
.
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_assertion
{
miriam-gene:2641
a
ncit:C16612
.
lld:C0270952
a
ncit:C7057
.
dgn-gda:DGN01c3f70c2e8de505eea06dfbee0839f7
sio:SIO_000628
miriam-gene:2641
,
lld:C0270952
;
a
sio:SIO_001121
.
}
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_provenance
{
dgn-np:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_assertion
dcterms:description
"[Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene.]. 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:15725589
;
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:NP418895.RApDrHql31iZB3jAG81GCHXJiU3DFeAB94ZPZ0-KZcRs8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:08+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" .
}