@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ
> .
@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/v3.0.0/void/
> .
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_head
{
this:
np:hasAssertion
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_assertion
;
np:hasProvenance
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_assertion
a
np:Assertion
.
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_provenance
a
np:Provenance
.
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_assertion
{
miriam-gene:2710
a
ncit:C16612
.
lld:C0795887
a
ncit:C7057
.
dgn-gda:DGNf237cebcbdad0cba442d1a3a5ad979b3
sio:SIO_000628
miriam-gene:2710
,
lld:C0795887
;
a
sio:SIO_001121
.
}
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_provenance
{
dgn-np:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_assertion
dcterms:description
"[Complex glycerol kinase deficiency (GKD) results from the contiguous deletion on Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita (AHC) and /or Duchenne muscular dystrophy (DMD).]. 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:15684452
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP426742.RAqxSDDQITLDFHP42kLH6qSy_7iGibVJaO8KqMEpDGRFQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:48+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}