@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8
> .
@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:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_head
{
this:
np:hasAssertion
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_assertion
;
np:hasProvenance
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_provenance
;
np:hasPublicationInfo
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_assertion
a
np:Assertion
.
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_provenance
a
np:Provenance
.
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN9c9d06984cd6d99962caa8f710f33b97
sio:SIO_000628
miriam-gene:1756
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_provenance
{
dgn-np:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_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-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:NP355318.RAKvM4OCe0uBuTa7kZrg9sGOu0DVRG416UaZ7XNMvWHy8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:04+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" .
}