@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs
> .
@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:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_head
{
this:
np:hasAssertion
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_assertion
;
np:hasProvenance
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_provenance
;
np:hasPublicationInfo
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_assertion
a
np:Assertion
.
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_provenance
a
np:Provenance
.
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_assertion
{
miriam-gene:5788
a
ncit:C16612
.
lld:C0085110
a
ncit:C7057
.
dgn-gda:DGN6627160499328dbdb6c3c87060284bf3
sio:SIO_000628
miriam-gene:5788
,
lld:C0085110
;
a
sio:SIO_001121
.
}
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_provenance
{
dgn-np:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_assertion
dcterms:description
"[Human severe combined immunodeficiency (SCID) can result from mutations in any one of at least seven different genes, including those for adenosine deaminase, the common cytokine receptor gamma chain, Janus kinase 3, IL-7 receptor alpha chain, recombinase activation genes 1 and 2, and CD45.]. 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:11339359
;
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:NP159516.RATPec0hAR7u7ULhpbwgL2Mze2tOuLv7ZPgdQbmZsYIgs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:26+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" .
}