@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I
> .
@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:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_head
{
this:
np:hasAssertion
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_assertion
;
np:hasProvenance
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_provenance
;
np:hasPublicationInfo
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_assertion
a
np:Assertion
.
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_provenance
a
np:Provenance
.
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_assertion
{
miriam-gene:3459
a
ncit:C16612
.
lld:C3266863
a
ncit:C7057
.
dgn-gda:DGNa59426f496260f88197fa5e10d32e70d
sio:SIO_000628
miriam-gene:3459
,
lld:C3266863
;
a
sio:SIO_001121
.
}
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_provenance
{
dgn-np:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_assertion
dcterms:description
"[Mutations in five genes (IFNGR1, IFNGR2, STAT1, IL12B and IL12RB1) have been shown to be responsible for MSMD and further allelic heterogeneity accounts for the existence of nine distinct inherited disorders.]. 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:12009568
;
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:NP481448.RAWHae_6evwBKgg1ZrpTc4VEIxldl4fYSLmBHwzybk70I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}