@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s
> .
@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:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_head
{
this:
np:hasAssertion
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_assertion
;
np:hasProvenance
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_provenance
;
np:hasPublicationInfo
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_assertion
a
np:Assertion
.
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_provenance
a
np:Provenance
.
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_assertion
{
miriam-gene:8794
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNbd3b9b410f0fbb94bac71a116601a1d4
sio:SIO_000628
miriam-gene:8794
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_provenance
{
dgn-np:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_assertion
dcterms:description
"[Observations of patients with partial trisomy of the 21q22.2 fragment suggest that most of the signs of the syndrome, including mental retardation, could be influenced by the region referred to as the Down Minimal Chromosomal Region-1 (DCR-1) for that reason.]. 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:15520513
;
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:NP621108.RAUTMa4M4r2DoQRt6_88YnG53C5_wYr7YAPs4EraMK_2s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:15+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" .
}