@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs
> .
@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:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_head
{
this:
np:hasAssertion
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_assertion
;
np:hasProvenance
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_provenance
;
np:hasPublicationInfo
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_assertion
a
np:Assertion
.
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_provenance
a
np:Provenance
.
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_assertion
{
miriam-gene:3981
a
ncit:C16612
.
lld:C1969799
a
ncit:C7057
.
dgn-gda:DGN33b0e3dd6f6b9e5b70bdf83b5f70d42c
sio:SIO_000628
miriam-gene:3981
,
lld:C1969799
;
a
sio:SIO_001121
.
}
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_provenance
{
dgn-np:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_assertion
dcterms:description
"[Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome).]. 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:22373003
;
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:NP463858.RAx-bBiFkdG79O0v6RILhXeriI7k1cWSyegzMs6swfQxs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:36+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" .
}