@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8
> .
@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:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_head
{
this:
np:hasAssertion
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_assertion
;
np:hasProvenance
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_provenance
;
np:hasPublicationInfo
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_assertion
a
np:Assertion
.
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_provenance
a
np:Provenance
.
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_assertion
{
miriam-gene:7337
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN03c20391ade419f6364a0b35245946bd
sio:SIO_000628
miriam-gene:7337
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_provenance
{
dgn-np:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_assertion
dcterms:description
"[Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy, due to deficient UBE3A gene expression that may be caused by various abnormalities of chromosome 15.]. 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:19874386
;
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:NP749276.RA2L4H_a1x9Ed-huzlYDp0t8FgElk1sS0euK9eEjb-gi8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:34+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" .
}