@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4
> .
@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:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_head
{
this:
np:hasAssertion
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_assertion
;
np:hasProvenance
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_provenance
;
np:hasPublicationInfo
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_assertion
a
np:Assertion
.
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_provenance
a
np:Provenance
.
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_assertion
{
miriam-gene:4599
a
ncit:C16612
.
lld:C0002171
a
ncit:C7057
.
dgn-gda:DGN9502c586c73e0291f4c7e117b33d9c5e
sio:SIO_000628
miriam-gene:4599
,
lld:C0002171
;
a
sio:SIO_001121
.
}
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_provenance
{
dgn-np:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_assertion
dcterms:description
"[Finally, the association of alopecia areata with Down's syndrome, the high frequency of alopecia areata in autoimmune polyglandular syndrome type I due to mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3 and the finding of association with MX1, another gene in the Down's syndrome region of chromosome 21 indicate this area of the genome as a promising target for future-family based investigations.]. 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:12190641
;
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:NP934316.RAYw1xQnQA7WsA4eGi2MbYXt47idRu1hpOXGEodq3Wxt4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:32+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" .
}