@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ
> .
@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:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_head
{
this:
np:hasAssertion
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_assertion
;
np:hasProvenance
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_assertion
a
np:Assertion
.
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_provenance
a
np:Provenance
.
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_assertion
{
miriam-gene:5897
a
ncit:C16612
.
lld:C1801959
a
ncit:C7057
.
dgn-gda:DGN3c7004d433a13167091781e2f199e3b5
sio:SIO_000628
miriam-gene:5897
,
lld:C1801959
;
a
sio:SIO_001121
.
}
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_provenance
{
dgn-np:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_assertion
dcterms:description
"[It has been recently shown that mutations in both of the recombination activating genes RAG1 and RAG2 are involved in each of the two different types of severe combined immunodeficiency (SCID) syndromes: T-B- SCID and Omenn's syndrome (OS).]. 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:15025726
;
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:NP193502.RALZAKJzGwLiiCsoVwAclYaukZiXBJlTRuvEq9zTNuGEQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:46+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: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" .
}