@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU
> .
@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:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_head
{
this:
np:hasAssertion
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_assertion
;
np:hasProvenance
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_provenance
;
np:hasPublicationInfo
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_assertion
a
np:Assertion
.
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_provenance
a
np:Provenance
.
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_assertion
{
miriam-gene:79840
a
ncit:C16612
.
lld:C0025958
a
ncit:C7057
.
dgn-gda:DGN6bc2f969d6d60521d987721a5d367ccf
sio:SIO_000628
miriam-gene:79840
,
lld:C0025958
;
a
sio:SIO_001121
.
}
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_provenance
{
dgn-np:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_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:NP914007.RAgUdP304usYAdRrc9QHrKMWK1G5WpANlrn2J4n4mXzoU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:21+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" .
}