@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_head
{
this:
np:hasAssertion
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_assertion
;
np:hasProvenance
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_provenance
;
np:hasPublicationInfo
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_assertion
a
np:Assertion
.
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_provenance
a
np:Provenance
.
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_assertion
{
miriam-gene:2332
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN60c615bcca0f7039e77ae1e4e65da5ed
sio:SIO_000628
miriam-gene:2332
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_provenance
{
dgn-np:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_assertion
dcterms:description
"[Fragile X syndrome linked to the FRAXA locus is the most common inherited genetic disease accounting for mental retardation and is usually caused by the expansion of an unstable CGG repeat in the first exon of the FMR1 gene on the X chromosome.]. 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:12215255
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP367102.RAEo_UVdy7XS1OrnOBr4uJrdxndFcfLqoYa63mMFsp_-s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:31+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}