@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY
> .
@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:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_head
{
this:
np:hasAssertion
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion
;
np:hasProvenance
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance
;
np:hasPublicationInfo
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion
a
np:Assertion
.
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance
a
np:Provenance
.
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion
{
miriam-gene:50943
a
ncit:C16612
.
lld:C0342288
a
ncit:C7057
.
dgn-gda:DGN47e989d19799cc88f78f56680f155575
sio:SIO_000628
miriam-gene:50943
,
lld:C0342288
;
a
sio:SIO_001121
.
}
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_provenance
{
dgn-np:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_assertion
dcterms:description
"[An 8-months-old male infant with a mutation in the polyadenylation site of FOXP3 gene, absence of FOXP3 protein expression and clinical manifestations of IPEX syndrome, including eczema, colitis, failure to thrive, TPN requirement, and elevated serum IgE, underwent matched unrelated hematopoietic stem cell transplant.]. 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:19471859
;
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:NP510039.RAhdw6PbMV48iqxIe6TGRXMsaHAtbJyaHTjscaQ_Iz2FY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:04+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" .
}