@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA
> .
@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:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_head
{
this:
np:hasAssertion
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_assertion
;
np:hasProvenance
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_provenance
;
np:hasPublicationInfo
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_assertion
a
np:Assertion
.
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_provenance
a
np:Provenance
.
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_assertion
{
miriam-gene:81704
a
ncit:C16612
.
lld:C1306759
a
ncit:C7057
.
dgn-gda:DGNb69704a6ea945f84ea421c5975f1cb9e
sio:SIO_000628
miriam-gene:81704
,
lld:C1306759
;
a
sio:SIO_001121
.
}
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_provenance
{
dgn-np:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_assertion
dcterms:description
"[DOCK8 deficiency is a newly described primary immune deficiency resulting in profound susceptibility to cutaneous viral infections, elevated IgE levels, and eosinophilia, but lacking in the skeletal manifestations commonly seen in hyper IgE syndrome, which it otherwise resembles.]. 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:21178274
;
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:NP861029.RAL0CVLlEOTWBYlm40-neu8kZQ5_d8MrkkCt0jtHBUTAA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:15+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" .
}