@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion
;
np:hasProvenance
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance
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np:hasPublicationInfo
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion
a
np:Assertion
.
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance
a
np:Provenance
.
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:114548
a
ncit:C16612
.
lld:C2316212
a
ncit:C7057
.
dgn-gda:DGNda4d065cf76b32c3abadd2e2bf1a067e
sio:SIO_000628
miriam-gene:114548
,
lld:C2316212
;
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sio:SIO_001121
.
}
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_provenance
{
dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_assertion
dcterms:description
"[This report expands the spectrum of CIAS1 mutations associated to clinical disease, suggests that the same mutation can be associated with different clinical syndromes, and supports the evidence that CAPS patients should always be screened for mutations outside exon 3.]. 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:18080732
;
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 .
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dgn-np:NP290999.RAhY4EoUOCAoFDe5Zosd2SP8P_HkGDjZPBMmkw1nW8JuE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:45+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
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dgn-void:disgenetrdf
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"v2.1.0" .
}