@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_head
{
this:
np:hasAssertion
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_assertion
;
np:hasProvenance
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_provenance
;
np:hasPublicationInfo
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_assertion
a
np:Assertion
.
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_provenance
a
np:Provenance
.
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_assertion
{
miriam-gene:326
a
ncit:C16612
.
lld:C0006840
a
ncit:C7057
.
dgn-gda:DGN54829ddc699446172a554578ed7c1171
sio:SIO_000628
miriam-gene:326
,
lld:C0006840
;
a
sio:SIO_001122
.
}
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_provenance
{
dgn-np:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_assertion
dcterms:description
"[The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations.]. 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:12050215
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP357006.RAswyfGUkyUJ39HdLrlXCjHOw5WtjvG_lhVXheYoHtEUE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:27+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}