@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4
> .
@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:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_head
{
this:
np:hasAssertion
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion
;
np:hasProvenance
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance
;
np:hasPublicationInfo
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion
a
np:Assertion
.
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance
a
np:Provenance
.
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion
{
miriam-gene:326
a
ncit:C16612
.
lld:C0001403
a
ncit:C7057
.
dgn-gda:DGN6a2d6114ed8166a8df0c0e2547aaf1b7
sio:SIO_000628
miriam-gene:326
,
lld:C0001403
;
a
sio:SIO_001121
.
}
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_provenance
{
dgn-np:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_assertion
dcterms:description
"[We describe two unrelated boys with autoimmune poly-endocrine-candidiasis-ectodermal dystrophy syndrome (APECED) who, in addition to manifesting the most common symptoms (chronic mucocutaneous candidiasis, hypoparathyroidism and Addison's disease), developed progressive muscular weakness in both the proximal and distal limbs, sensory loss and absent tendon reflexes.]. 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:18461357
;
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:NP859389.RA2ttAYsYaGGlMyQycG6aotVTQ2e33Ib-mtYU_0b9IXt4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:45+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" .
}