@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk
> .
@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:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_head
{
this:
np:hasAssertion
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_assertion
;
np:hasProvenance
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_provenance
;
np:hasPublicationInfo
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_assertion
a
np:Assertion
.
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_provenance
a
np:Provenance
.
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0795887
a
ncit:C7057
.
dgn-gda:DGN26d1879642d7bce8f646fcdb4ec66ab1
sio:SIO_000628
miriam-gene:1756
,
lld:C0795887
;
a
sio:SIO_001121
.
}
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_provenance
{
dgn-np:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_assertion
dcterms:description
"[Clinical experience has suggested that patients with the contiguous gene syndrome, complex glycerol kinase deficiency (cGKD), will have mental retardation (MR) if they have deletions extending from the GK gene into the DMD gene and/or involving a significant extension telomeric from DAX1.]. 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:15300857
;
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:NP334068.RAxz-aSNXCWUMairIF3FntBjIv1BE4OrvgcMkMvBN2pdk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:16+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" .
}