@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M
> .
@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:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_head
{
this:
np:hasAssertion
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_assertion
;
np:hasProvenance
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_provenance
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np:hasPublicationInfo
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_assertion
a
np:Assertion
.
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_provenance
a
np:Provenance
.
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_assertion
{
miriam-gene:1789
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGNda93605e5168690916b41fbd554d8eab
sio:SIO_000628
miriam-gene:1789
,
lld:C0026850
;
a
sio:SIO_001121
.
}
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_provenance
{
dgn-np:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_assertion
dcterms:description
"[Hypomethylation of D4Z4 is also observed in patients with phenotypic FSHD without contraction of D4Z4 and in patients with the immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome, an unrelated disease that does not present with muscular dystrophy and is in part caused by DNMT3B mutations.]. 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:17785671
;
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:NP764695.RAg-lAXbtVA2tK4S_dnlyYGS_4RgT4pngAu30CFlLtt9M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:43+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
<
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> , <
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
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"v2.1.0" .
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