@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_head
{
this:
np:hasAssertion
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_assertion
;
np:hasProvenance
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_provenance
;
np:hasPublicationInfo
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_assertion
a
np:Assertion
.
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_provenance
a
np:Provenance
.
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_assertion
{
miriam-gene:3558
a
ncit:C16612
.
lld:C0085110
a
ncit:C7057
.
dgn-gda:DGN9293e140e4f7e8af8e5bf81b99ec0278
sio:SIO_000628
miriam-gene:3558
,
lld:C0085110
;
a
sio:SIO_001121
.
}
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_provenance
{
dgn-np:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_assertion
dcterms:description
"[X-linked severe combined immunodeficiency (SCID) is characterized by profound defects in cellular and humoral immunity and, in humans, is associated with mutations in the gene for the gamma chain of the IL-2 receptor (IL-2R gamma).]. 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:7829104
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1323144.RAPh3EFZZfHNb5hH8sDcqJ6sEJ66_ZOpwYEE7X2fLR6ts130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:46+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}