@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw
> .
@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:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_head
{
this:
np:hasAssertion
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_assertion
;
np:hasProvenance
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_provenance
;
np:hasPublicationInfo
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_assertion
a
np:Assertion
.
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_provenance
a
np:Provenance
.
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_assertion
{
miriam-gene:959
a
ncit:C16612
.
lld:C0029118
a
ncit:C7057
.
dgn-gda:DGNda287bb9f49e7a3a24c9a44abf7f8295
sio:SIO_000628
miriam-gene:959
,
lld:C0029118
;
a
sio:SIO_001121
.
}
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_provenance
{
dgn-np:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_assertion
dcterms:description
"[X-linked hyper IgM syndrome (XHIM), caused by mutations of the CD40 ligand (CD40L) gene, is characterized by recurrent bacterial and opportunistic infections, an increased incidence of autoimmunity and malignancies, and immunodeficiency due to abnormal T/B cell interaction.]. 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:11237554
;
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:NP721531.RA_uXhpIQdxESFAHfHFstGtpmCX42H6Pjz9_RSaZAYsQw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:18+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" .
}