@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM
> .
@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:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_head
{
this:
np:hasAssertion
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_assertion
;
np:hasProvenance
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_provenance
;
np:hasPublicationInfo
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_assertion
a
np:Assertion
.
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_provenance
a
np:Provenance
.
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_assertion
{
miriam-gene:1789
a
ncit:C16612
.
lld:C0020534
a
ncit:C7057
.
dgn-gda:DGNcd661f5794a5b76d110bdd9f3e9f03ba
sio:SIO_000628
miriam-gene:1789
,
lld:C0020534
;
a
sio:SIO_001121
.
}
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_provenance
{
dgn-np:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_assertion
dcterms:description
"[In addition to the juxtacentromeric heterochromatic instability, the disease is characterized by variable reduction in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood as well as exhibit facial dysmorphism including hypertelorism, epicanthal folds, and low-set ears.]. 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:21120685
;
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:NP316922.RAYhQ8RAAT7Yn_bsWx48DRzDiXdKDNN1MJMoA2R82E8XM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:04+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" .
}