@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo
> .
@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:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_head
{
this:
np:hasAssertion
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion
;
np:hasProvenance
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance
;
np:hasPublicationInfo
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion
a
np:Assertion
.
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance
a
np:Provenance
.
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion
{
miriam-gene:51124
a
ncit:C16612
.
lld:C0011847
a
ncit:C7057
.
dgn-gda:DGN0504129b385e7f41709ae449a6334188
sio:SIO_000628
miriam-gene:51124
,
lld:C0011847
;
a
sio:SIO_001121
.
}
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_provenance
{
dgn-np:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_assertion
dcterms:description
"[Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation.]. 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:22991235
;
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:NP895626.RAThBDP00sOsSvxSOxRFOkKTf4knE49Tuhy2Ci8UBkiMo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:10+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" .
}