@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY
> .
@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:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_head
{
this:
np:hasAssertion
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_assertion
;
np:hasProvenance
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_provenance
;
np:hasPublicationInfo
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_assertion
a
np:Assertion
.
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_provenance
a
np:Provenance
.
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_assertion
{
miriam-gene:326
a
ncit:C16612
.
lld:C0494261
a
ncit:C7057
.
dgn-gda:DGN9c6aed8819ba53b3bbcbd04539968270
sio:SIO_000628
miriam-gene:326
,
lld:C0494261
;
a
sio:SIO_001121
.
}
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_provenance
{
dgn-np:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_assertion
dcterms:description
"[Characterization of the molecular and cellular mechanisms involved in APECED, and recognition that AIRE expression is sustained by effective thymopoiesis, has recently allowed to define that the autoimmunity of Omenn syndrome, a combined immunodeficiency due to defects of V(D)J recombination, also results from defective expression of AIRE.]. 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:16682278
;
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:NP847570.RAg2BLnKu4pquSu1dVYasS5smmRWpHK_-nRsnuwkqRduY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:38+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" .
}