@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0
> .
@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:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_head
{
this:
np:hasAssertion
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_assertion
;
np:hasProvenance
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_provenance
;
np:hasPublicationInfo
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_assertion
a
np:Assertion
.
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_provenance
a
np:Provenance
.
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_assertion
{
miriam-gene:8170
a
ncit:C16612
.
lld:C0016667
a
ncit:C7057
.
dgn-gda:DGNd12ac1ed6bd21d15fb666e97d70b5472
sio:SIO_000628
miriam-gene:8170
,
lld:C0016667
;
a
sio:SIO_001121
.
}
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_provenance
{
dgn-np:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_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:NP279149.RApSsrWT6XFMm9hjh4G8RWoHMESwrcjm05x0yyH6ixZq0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:37+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" .
}