@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM
> .
@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:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_head
{
this:
np:hasAssertion
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_assertion
;
np:hasProvenance
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_provenance
;
np:hasPublicationInfo
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_assertion
a
np:Assertion
.
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_provenance
a
np:Provenance
.
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_assertion
{
miriam-gene:100
a
ncit:C16612
.
lld:C0085110
a
ncit:C7057
.
dgn-gda:DGNb86e14adf5030b41cb85fa2ee6eb3f4d
sio:SIO_000628
miriam-gene:100
,
lld:C0085110
;
a
sio:SIO_001121
.
}
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_provenance
{
dgn-np:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_assertion
dcterms:description
"[Approximately 20 years ago, Giblett and coworkers serendipitously discovered that in some patients with the syndrome of severe combined immunodeficiency, the disease is due to an inherited deficiency of the enzyme adenosine deaminase (ADA).]. 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:8433873
;
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:NP219766.RAk-A2pZRvJEtnS72hK0xoIp8X41d4WLf6VqTBY1UKEXM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:02+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" .
}