@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ
> .
@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/v3.0.0/void/
> .
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_head
{
this:
np:hasAssertion
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_assertion
;
np:hasProvenance
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_assertion
a
np:Assertion
.
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_provenance
a
np:Provenance
.
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_assertion
{
miriam-gene:326
a
ncit:C16612
.
lld:C0006840
a
ncit:C7057
.
dgn-gda:DGN68ed6e98f83d5549432d458aa7c8f27b
sio:SIO_000628
miriam-gene:326
,
lld:C0006840
;
a
sio:SIO_001121
.
}
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_provenance
{
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_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_curated
;
sio:SIO_000772
miriam-pubmed:12050215
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP6381.RAZpJFWqnDOmfnQMvbGsXWpg4v8QbzoeGanQaD3mj4itQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:45+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}