@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg
> .
@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:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_head
{
this:
np:hasAssertion
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion
;
np:hasProvenance
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance
;
np:hasPublicationInfo
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion
a
np:Assertion
.
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance
a
np:Provenance
.
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion
{
miriam-gene:1859
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN87536c8a68d222606592c907d506fdce
sio:SIO_000628
miriam-gene:1859
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_provenance
{
dgn-np:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_assertion
dcterms:description
"[Because four patients previously reported with intragenic DYRK1A rearrangements or 21q22 microdeletions including only DYRK1A presented with overlapping phenotypes, we hypothesised that DYRK1A mutations could be responsible for syndromic ID with severe microcephaly and epilepsy.]. 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:23099646
;
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:NP756422.RA84qUC-S9QWI0ftVc51o9YU9CVLBsKfcaNK2shUTT1cg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:38+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" .
}