@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY
> .
@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:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_head
{
this:
np:hasAssertion
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_assertion
;
np:hasProvenance
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_provenance
;
np:hasPublicationInfo
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_assertion
a
np:Assertion
.
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_provenance
a
np:Provenance
.
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_assertion
{
miriam-gene:2837
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNc462605e12b33ce27f34594854cc4cbb
sio:SIO_000628
miriam-gene:2837
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_provenance
{
dgn-np:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_assertion
dcterms:description
"[Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5' untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locus.]. 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:23356558
;
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:NP429337.RAdjVA0f892eYaB-5mpIpFYvjF0sedLE9G5dM95pLIVoY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:14+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" .
}