@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64
> .
@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:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_head
{
this:
np:hasAssertion
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_assertion
;
np:hasProvenance
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_provenance
;
np:hasPublicationInfo
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_assertion
a
np:Assertion
.
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_provenance
a
np:Provenance
.
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_assertion
{
miriam-gene:1738
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNf2f467c257da31ff144064df8b7160dd
sio:SIO_000628
miriam-gene:1738
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_provenance
{
dgn-np:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_assertion
dcterms:description
"[This patient presents the clinical features of leukocyte adhesion deficiency type II (LAD II) including mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes.]. 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:11326280
;
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:NP316280.RA1WPV9XT7s-Z3nF9oW5H8kz8VPltWakTUUbb64wd9H64130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:09+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" .
}