@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70
> .
@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/v4.0.0/void/
> .
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_head
{
this:
np:hasAssertion
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion
;
np:hasProvenance
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance
;
np:hasPublicationInfo
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion
a
np:Assertion
.
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance
a
np:Provenance
.
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion
{
miriam-gene:1827
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGN3cfe5df6b43c1e5b2df8dfda3e16ade7
sio:SIO_000628
miriam-gene:1827
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_provenance
{
dgn-np:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_assertion
dcterms:description
"[The Down syndrome critical region 1 (DSCR1) gene is present in the region of human chromosome 21 and the syntenic region of mouse chromosome 16, trisomy of which is associated with congenital heart defects observed in Down syndrome.]. 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:14738882
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP429166.RAl7FFpSl2RZBSTD4x1jRN27zMi9yW1bnKq803rqNVN70130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:59+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}